#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MIIP	60672	broad.mit.edu	37	1	12091849	12091849	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:12091849C>T	ENST00000235332.4	+	10	1320	c.1151C>T	c.(1150-1152)cCa>cTa	p.P384L	MIIP_ENST00000436478.2_Missense_Mutation_p.H352Y|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	384								p.P384L(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCCCACGTCCCACGGCAGAAG	0.672																																						uc001ato.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1150-1152)CCA>CTA		invasion inhibitory protein 45							47.0	52.0	51.0					1																	12091849		2203	4300	6503	SO:0001583	missense	60672							g.chr1:12091849C>T	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.1151C>T	1.37:g.12091849C>T	ENSP00000235332:p.Pro384Leu						p.P384L	NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN			10	1331	+			384					C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.1151C>T	CCDS143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.96|12.96	2.094392|2.094392	0.36952|0.36952	.|.	.|.	ENSG00000116691|ENSG00000116691	ENST00000436478|ENST00000235332	T|T	0.19806|0.16457	2.12|2.34	4.6|4.6	2.59|2.59	0.31030|0.31030	.|.	.|0.260691	.|0.30528	.|N	.|0.009434	T|T	0.15522|0.15522	0.0374|0.0374	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|B	.|0.27932	.|0.194	.|B	.|0.26094	.|0.066	T|T	0.18935|0.18935	-1.0321|-1.0321	7|10	0.23891|0.87932	T|D	0.37|0	-5.0213|-5.0213	5.8043|5.8043	0.18432|0.18432	0.0:0.6983:0.1972:0.1046|0.0:0.6983:0.1972:0.1046	.|.	.|384	.|Q5JXC2	.|MIIP_HUMAN	Y|L	352|384	ENSP00000392417:H352Y|ENSP00000235332:P384L	ENSP00000392417:H352Y|ENSP00000235332:P384L	H|P	+|+	1|2	0|0	MIIP|MIIP	12014436|12014436	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.009000|0.009000	0.06853|0.06853	0.794000|0.794000	0.26958|0.26958	1.301000|1.301000	0.44836|0.44836	-0.136000|-0.136000	0.14681|0.14681	CAC|CCA		PASS	0.672	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		34	59	34	59	---	---	---	---
PLA2G5	5322	broad.mit.edu	37	1	20412684	20412684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:20412684G>A	ENST00000375108.3	+	3	417	c.149G>A	c.(148-150)tGg>tAg	p.W50*	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	50					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)	p.W50*(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TACTGCGGCTGGGGCGGCCGA	0.542																																						uc001bcy.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(148-150)TGG>TAG		phospholipase A2, group V precursor							84.0	79.0	81.0					1																	20412684		2203	4300	6503	SO:0001587	stop_gained	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20412684G>A	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.149G>A	1.37:g.20412684G>A	ENSP00000364249:p.Trp50*					PLA2G5_uc001bcw.2_RNA|PLA2G5_uc001bcx.2_Nonsense_Mutation_p.W81*	p.W50*	NM_000929	NP_000920	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	3	417	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	50					Q8N435	Nonsense_Mutation	SNP	ENST00000375108.3	37	c.149G>A	CCDS202.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582469	0.86748	.	.	ENSG00000127472	ENST00000375108	.	.	.	5.26	2.08	0.27032	.	0.418073	0.21040	N	0.081183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0309	11.5368	0.50641	0.0:0.0:0.545:0.455	.	.	.	.	X	50	.	ENSP00000364249:W50X	W	+	2	0	PLA2G5	20285271	0.299000	0.24426	1.000000	0.80357	0.718000	0.41266	0.083000	0.14871	0.671000	0.31185	0.655000	0.94253	TGG		PASS	0.542	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		19	33	19	33	---	---	---	---
TMEM234	56063	broad.mit.edu	37	1	32687602	32687602	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:32687602C>T	ENST00000344461.3	-	2	49	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	TMEM234_ENST00000373593.1_Missense_Mutation_p.V12M|TMEM234_ENST00000309777.6_Missense_Mutation_p.V12M|EIF3I_ENST00000373586.1_5'Flank|TMEM234_ENST00000545122.1_Missense_Mutation_p.V12M			Q8WY98	TM234_HUMAN	transmembrane protein 234	12						integral component of membrane (GO:0016021)		p.V12M(1)		kidney(2)|lung(3)	5						GCCACCAGCACCAGAGCCAAC	0.697																																						uc009vub.1																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)GTG>ATG		RecName: Full=UPF0546 membrane protein C1orf91;							34.0	42.0	39.0					1																	32687602		2202	4299	6501	SO:0001583	missense	56063					integral to membrane		g.chr1:32687602C>T	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.34G>A	1.37:g.32687602C>T	ENSP00000344021:p.Val12Met					C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA|C1orf91_uc010oha.1_RNA|C1orf91_uc001buq.3_Missense_Mutation_p.V12M|EIF3I_uc001bur.3_5'UTR|EIF3I_uc009vuc.2_5'Flank|EIF3I_uc001bus.2_5'Flank	p.V12M			Q8WY98	TM234_HUMAN			2	37	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	12			Helical; (Potential).		B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37	c.34G>A		.	.	.	.	.	.	.	.	.	.	C	17.45	3.392449	0.62066	.	.	ENSG00000160055	ENST00000545122;ENST00000309777;ENST00000373593;ENST00000344461	.	.	.	4.63	3.62	0.41486	.	0.116022	0.40908	D	0.000993	T	0.75095	0.3803	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.998;0.991	D;P	0.64410	0.925;0.845	T	0.78280	-0.2265	9	0.72032	D	0.01	-6.8811	12.5158	0.56032	0.0:0.7148:0.2852:0.0	.	12;12	Q8WY98-2;Q8WY98-3	.;.	M	12	.	ENSP00000309792:V12M	V	-	1	0	TMEM234	32460189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.651000	0.24873	2.484000	0.83849	0.650000	0.86243	GTG		PASS	0.697	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		19	37	19	37	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37291414	37291414	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:37291414G>T	ENST00000373091.3	-	11	1560	c.1544C>A	c.(1543-1545)gCc>gAc	p.A515D	GRIK3_ENST00000373093.4_Missense_Mutation_p.A515D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	515					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.A515D(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GGGGGCCACGGCCAGATCTGC	0.522																																						uc001caz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1543-1545)GCC>GAC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						85.0	81.0	82.0					1																	37291414		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37291414G>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1544C>A	1.37:g.37291414G>T	ENSP00000362183:p.Ala515Asp					GRIK3_uc001cba.1_Missense_Mutation_p.A515D	p.A515D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			11	1679	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	515			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1544C>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706397	0.89018	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.14766	2.48;2.48	5.25	5.25	0.73442	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	M	0.90759	3.145	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.58702	-0.7590	10	0.87932	D	0	.	18.8546	0.92246	0.0:0.0:1.0:0.0	.	515;515	A9Z1Z8;Q13003	.;GRIK3_HUMAN	D	515	ENSP00000362183:A515D;ENSP00000362185:A515D	ENSP00000362183:A515D	A	-	2	0	GRIK3	37064001	1.000000	0.71417	0.989000	0.46669	0.847000	0.48162	9.740000	0.98839	2.443000	0.82685	0.462000	0.41574	GCC		PASS	0.522	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		24	95	24	95	---	---	---	---
MANEAL	149175	broad.mit.edu	37	1	38265828	38265828	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:38265828C>T	ENST00000373045.6	+	4	1708	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.R221C|MANEAL_ENST00000525897.1_Missense_Mutation_p.R249C|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	443						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.R221C(1)|p.R443C(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCTGACACGCCGCTGGGCGGA	0.582																																						uc001cby.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1327-1329)CGC>TGC		mannosidase, endo-alpha-like isoform 3							52.0	58.0	56.0					1																	38265828		2179	4276	6455	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265828C>T	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1327C>T	1.37:g.38265828C>T	ENSP00000362136:p.Arg443Cys					MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.R221C	p.R443C	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN			4	1408	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	443			Lumenal (Potential).		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.1327C>T	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837418	0.50951	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	5.62	0.85841	.	0.208079	0.45361	D	0.000366	T	0.49287	0.1548	L	0.48642	1.525	0.48901	D	0.999729	B;B	0.29531	0.067;0.247	B;B	0.24269	0.005;0.052	T	0.50154	-0.8861	9	0.52906	T	0.07	-18.3464	12.0497	0.53500	0.268:0.732:0.0:0.0	.	221;443	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	C	443;249;221	.	ENSP00000328770:R221C	R	+	1	0	MANEAL	38038415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.852000	0.55934	2.662000	0.90505	0.655000	0.94253	CGC		PASS	0.582	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		24	75	24	75	---	---	---	---
SCMH1	22955	broad.mit.edu	37	1	41579063	41579063	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:41579063C>G	ENST00000326197.7	-	7	906	c.607G>C	c.(607-609)Ggg>Cgg	p.G203R	SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397171.2_Missense_Mutation_p.G142R|SCMH1_ENST00000372596.1_Missense_Mutation_p.G142R|SCMH1_ENST00000402904.2_Missense_Mutation_p.G203R|SCMH1_ENST00000372595.1_Missense_Mutation_p.G142R|SCMH1_ENST00000372597.1_Missense_Mutation_p.G156R|SCMH1_ENST00000337495.5_Missense_Mutation_p.G213R|SCMH1_ENST00000361705.3_Missense_Mutation_p.G156R|SCMH1_ENST00000397174.2_Missense_Mutation_p.G183R|SCMH1_ENST00000361191.5_Missense_Mutation_p.G142R					sex comb on midleg homolog 1 (Drosophila)									p.G156R(1)|p.G213R(1)|p.G203R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCTCGCCACCCATCAAAAGTG	0.567																																						uc001cgo.2																			3	Substitution - Missense(3)		lung(3)		0						c.(607-609)GGG>CGG		sex comb on midleg 1 isoform 1							110.0	105.0	107.0					1																	41579063		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41579063C>G	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.607G>C	1.37:g.41579063C>G	ENSP00000318094:p.Gly203Arg					SCMH1_uc010ojr.1_Intron|SCMH1_uc001cgp.2_Missense_Mutation_p.G142R|SCMH1_uc001cgr.2_Missense_Mutation_p.G142R|SCMH1_uc001cgs.2_Missense_Mutation_p.G213R|SCMH1_uc001cgt.2_Missense_Mutation_p.G142R|SCMH1_uc001cgq.2_Missense_Mutation_p.G156R|SCMH1_uc010ojs.1_RNA	p.G203R	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN			8	918	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	203			MBT 2.			Missense_Mutation	SNP	ENST00000326197.7	37	c.607G>C	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104697	0.94245	.	.	ENSG00000010803	ENST00000361705;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.72	5.72	0.89469	.	0.054644	0.64402	D	0.000001	T	0.76955	0.4060	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.989	D	0.84211	0.0456	10	0.87932	D	0	.	18.4399	0.90662	0.0:1.0:0.0:0.0	.	213;156;203	Q96GD3-2;Q96GD3-4;Q96GD3	.;.;SCMH1_HUMAN	R	156;203;183;142;142;156;142;213;142;203	ENSP00000354996:G156R;ENSP00000386079:G203R;ENSP00000380359:G183R;ENSP00000380356:G142R;ENSP00000354656:G142R;ENSP00000361678:G156R;ENSP00000361677:G142R;ENSP00000337352:G213R;ENSP00000361676:G142R;ENSP00000318094:G203R	ENSP00000318094:G203R	G	-	1	0	SCMH1	41351650	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.704000	0.92352	0.557000	0.71058	GGG		PASS	0.567	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			27	96	27	96	---	---	---	---
AGBL4	84871	broad.mit.edu	37	1	49100272	49100272	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:49100272A>T	ENST00000371839.1	-	9	960	c.844T>A	c.(844-846)Tct>Act	p.S282T	AGBL4_ENST00000371838.1_Missense_Mutation_p.S282T|AGBL4_ENST00000334103.7_Missense_Mutation_p.S15T	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	282					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.S282T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CCCATCAGAGAACACCTAGGC	0.453																																						uc001cru.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(844-846)TCT>ACT		ATP/GTP binding protein-like 4							73.0	74.0	74.0					1																	49100272		1949	4136	6085	SO:0001583	missense	84871				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr1:49100272A>T	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.844T>A	1.37:g.49100272A>T	ENSP00000360905:p.Ser282Thr					AGBL4_uc010omw.1_Missense_Mutation_p.S15T|AGBL4_uc010omx.1_Missense_Mutation_p.S294T|AGBL4_uc001crv.1_Missense_Mutation_p.S135T|AGBL4_uc010omy.1_Missense_Mutation_p.S105T	p.S282T	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN		Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)	9	1002	-			282					B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	c.844T>A	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789818	0.70337	.	.	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103;ENST00000371838	T;T;T	0.10573	2.86;2.86;2.86	5.6	5.6	0.85130	Peptidase M14, carboxypeptidase A (1);	0.205940	0.53938	D	0.000059	T	0.29945	0.0749	M	0.76002	2.32	0.50632	D	0.999883	D;D;D;B;P	0.62365	0.969;0.991;0.989;0.277;0.592	P;P;P;B;B	0.62560	0.795;0.73;0.904;0.145;0.348	T	0.01570	-1.1322	9	.	.	.	-25.914	13.709	0.62656	1.0:0.0:0.0:0.0	.	97;294;15;127;282	A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57	.;.;.;.;CBPC6_HUMAN	T	282;276;15;282	ENSP00000360905:S282T;ENSP00000335516:S15T;ENSP00000360904:S282T	.	S	-	1	0	AGBL4	48872859	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.149000	0.89632	2.129000	0.65627	0.379000	0.24179	TCT		PASS	0.453	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		4	11	4	11	---	---	---	---
C8A	731	broad.mit.edu	37	1	57383376	57383376	+	Missense_Mutation	SNP	C	C	A	rs143726641	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:57383376C>A	ENST00000361249.3	+	11	1838	c.1742C>A	c.(1741-1743)aCg>aAg	p.T581K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	581	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.T581M(1)|p.T581K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAAGTACAGACGCAGGCTTGC	0.537																																						uc001cyo.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1741-1743)ACG>AAG		complement component 8, alpha polypeptide							52.0	52.0	52.0					1																	57383376		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57383376C>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1742C>A	1.37:g.57383376C>A	ENSP00000354458:p.Thr581Lys						p.T581K	NM_000562	NP_000553	P07357	CO8A_HUMAN			11	1874	+			581			TSP type-1 2.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1742C>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540221	0.45176	.	.	ENSG00000157131	ENST00000361249	T	0.58060	0.36	4.82	2.86	0.33363	.	0.335476	0.36268	N	0.002698	T	0.55194	0.1905	M	0.67953	2.075	0.32797	N	0.500365	P	0.50443	0.935	P	0.49953	0.627	T	0.65142	-0.6240	10	0.36615	T	0.2	-20.7724	9.1602	0.37019	0.0:0.7117:0.1964:0.0919	.	581	P07357	CO8A_HUMAN	K	581	ENSP00000354458:T581K	ENSP00000354458:T581K	T	+	2	0	C8A	57155964	0.780000	0.28664	0.460000	0.27093	0.003000	0.03518	1.169000	0.31871	1.254000	0.44035	-0.222000	0.12452	ACG		PASS	0.537	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		24	49	24	49	---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65855118	65855118	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:65855118C>T	ENST00000395325.3	+	10	1359	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M	DNAJC6_ENST00000263441.7_Missense_Mutation_p.T388M|DNAJC6_ENST00000371069.4_Missense_Mutation_p.T458M	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.T401M(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CATCAAGATACGCTGGCCTTA	0.418																																						uc001dcd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1201-1203)ACG>ATG		DnaJ (Hsp40) homolog, subfamily C, member 6							135.0	117.0	123.0					1																	65855118		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65855118C>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1202C>T	1.37:g.65855118C>T	ENSP00000378735:p.Thr401Met					DNAJC6_uc001dcc.1_Missense_Mutation_p.T432M|DNAJC6_uc010opc.1_Missense_Mutation_p.T388M|DNAJC6_uc001dce.1_Missense_Mutation_p.T458M	p.T401M	NM_014787	NP_055602	O75061	AUXI_HUMAN			10	1366	+			401					B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.1202C>T	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524013	0.64747	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.93076	-3.15;-3.16;-3.16	5.46	5.46	0.80206	.	0.058040	0.85682	D	0.000000	D	0.83285	0.5221	N	0.19112	0.55	0.52501	D	0.999956	B;B;B	0.34200	0.441;0.314;0.361	B;B;B	0.28385	0.089;0.041;0.06	T	0.82705	-0.0325	10	0.31617	T	0.26	.	19.5125	0.95148	0.0:1.0:0.0:0.0	.	458;401;388	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	M	388;401;458	ENSP00000263441:T388M;ENSP00000378735:T401M;ENSP00000360108:T458M	ENSP00000263441:T388M	T	+	2	0	DNAJC6	65627706	1.000000	0.71417	0.887000	0.34795	0.418000	0.31294	7.320000	0.79064	2.840000	0.97914	0.655000	0.94253	ACG		PASS	0.418	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			26	79	26	79	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66067630	66067630	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:66067630T>A	ENST00000349533.6	+	10	1575	c.1390T>A	c.(1390-1392)Ttg>Atg	p.L464M	LEPR_ENST00000371060.3_Missense_Mutation_p.L464M|LEPR_ENST00000371059.3_Missense_Mutation_p.L464M|LEPR_ENST00000344610.8_Missense_Mutation_p.L464M|LEPR_ENST00000371058.1_Missense_Mutation_p.L464M|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.L464M(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CACTTTGCAATTGAGGTATCA	0.348																																						uc001dci.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1390-1392)TTG>ATG		leptin receptor isoform 1							154.0	165.0	161.0					1																	66067630		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66067630T>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1390T>A	1.37:g.66067630T>A	ENSP00000330393:p.Leu464Met					LEPR_uc001dcg.2_Missense_Mutation_p.L464M|LEPR_uc001dch.2_Missense_Mutation_p.L464M|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.L464M|LEPR_uc001dck.2_Missense_Mutation_p.L464M	p.L464M	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	10	1592	+			464			Extracellular (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1390T>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321908	0.41096	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.91	-1.82	0.07857	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.252568	0.37761	N	0.001947	T	0.40247	0.1109	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.996	T	0.41502	-0.9505	10	0.72032	D	0.01	-10.0991	6.2375	0.20772	0.1109:0.3269:0.0:0.5622	.	464;464;464	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	M	464	ENSP00000340884:L464M;ENSP00000330393:L464M;ENSP00000360099:L464M;ENSP00000360098:L464M;ENSP00000360097:L464M	ENSP00000340884:L464M	L	+	1	2	LEPR	65840218	0.983000	0.35010	0.972000	0.41901	0.364000	0.29643	-0.041000	0.12084	-0.660000	0.05352	0.377000	0.23210	TTG		PASS	0.348	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		58	141	58	141	---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67804309	67804309	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:67804309C>T	ENST00000262345.1	+	8	1601	c.961C>T	c.(961-963)Cct>Tct	p.P321S	IL12RB2_ENST00000371000.1_Missense_Mutation_p.P321S|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P321S|IL12RB2_ENST00000541374.1_Missense_Mutation_p.P321S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	321	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.P321S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGAAACAGAGCCTACTGGGAT	0.348																																						uc001ddu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(961-963)CCT>TCT		interleukin 12 receptor, beta 2 precursor							112.0	120.0	117.0					1																	67804309		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67804309C>T	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.961C>T	1.37:g.67804309C>T	ENSP00000262345:p.Pro321Ser					IL12RB2_uc010oqi.1_Missense_Mutation_p.P321S|IL12RB2_uc010oqj.1_Missense_Mutation_p.P321S|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.P321S|IL12RB2_uc010oqm.1_Missense_Mutation_p.P321S|IL12RB2_uc010oqn.1_RNA	p.P321S	NM_001559	NP_001550	Q99665	I12R2_HUMAN			8	1601	+			321			Fibronectin type-III 3.|Extracellular (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.961C>T	CCDS638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.51|19.51	3.841508|3.841508	0.71488|0.71488	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000441640|ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	.|T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;0.73	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Fibronectin, type III (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79009|0.79009	0.4374|0.4374	M|M	0.86953|0.86953	2.85|2.85	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;1.0;0.999	T|T	0.81982|0.81982	-0.0683|-0.0683	5|10	.|0.66056	.|D	.|0.02	-20.0953|-20.0953	16.4166|16.4166	0.83744|0.83744	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|321;321;321;321	.|B4DGA4;F5H7L6;Q99665-2;Q99665	.|.;.;.;I12R2_HUMAN	V|S	188|321	.|ENSP00000262345:P321S;ENSP00000360039:P321S;ENSP00000445276:P321S;ENSP00000442443:P321S	.|ENSP00000262345:P321S	A|P	+|+	2|1	0|0	IL12RB2|IL12RB2	67576897|67576897	0.999000|0.999000	0.42202|0.42202	0.990000|0.990000	0.47175|0.47175	0.866000|0.866000	0.49608|0.49608	4.458000|4.458000	0.60095|0.60095	2.662000|2.662000	0.90505|0.90505	0.563000|0.563000	0.77884|0.77884	GCC|CCT		PASS	0.348	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		31	83	31	83	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037023	75037023	+	Silent	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:75037023T>A	ENST00000326665.5	-	14	4589	c.4371A>T	c.(4369-4371)gcA>gcT	p.A1457A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1457	Glu-rich.							p.A1457A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCAGTGGCTGCCTCCTGGC	0.592																																						uc001dgg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4369-4371)GCA>GCT		hypothetical protein LOC127254							101.0	95.0	97.0					1																	75037023		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037023T>A																												ENST00000326665.5:c.4371A>T	1.37:g.75037023T>A							p.A1457A	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4590	-			1457			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4371A>T	CCDS30755.1																																																																																				PASS	0.592	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			47	129	47	129	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038490	75038490	+	Silent	SNP	G	G	A	rs373308732		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:75038490G>A	ENST00000326665.5	-	14	3122	c.2904C>T	c.(2902-2904)gaC>gaT	p.D968D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		968	Glu-rich.							p.D968D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCAGAACCGTCCTCTCTCT	0.522																																						uc001dgg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2902-2904)GAC>GAT		hypothetical protein LOC127254		A		1,4405	826.1+/-416.6	0,1,2202	142.0	132.0	136.0		2904	-5.1	0.0	1		136	0,8600		0,0,4300	no	coding-synonymous	C1orf173	NM_001002912.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		968/1531	75038490	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038490G>A																												ENST00000326665.5:c.2904C>T	1.37:g.75038490G>A							p.D968D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3123	-			968			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2904C>T	CCDS30755.1																																																																																				PASS	0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			50	117	50	117	---	---	---	---
ZNHIT6	54680	broad.mit.edu	37	1	86142970	86142970	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:86142970G>A	ENST00000370574.3	-	8	1329	c.1196C>T	c.(1195-1197)aCt>aTt	p.T399I	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.T360I			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	399					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.T399I(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CTGAACCCCAGTCTGAGAGCG	0.313																																						uc001dlh.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1195-1197)ACT>ATT		zinc finger, HIT type 6							60.0	66.0	64.0					1																	86142970		2203	4287	6490	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86142970G>A	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1196C>T	1.37:g.86142970G>A	ENSP00000359606:p.Thr399Ile					ZNHIT6_uc010osc.1_Missense_Mutation_p.T360I	p.T399I	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN			8	1330	-			399					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.1196C>T	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075548	0.55646	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.47528	0.87;0.84	5.27	3.35	0.38373	.	0.497230	0.21363	N	0.075771	T	0.36082	0.0954	L	0.53249	1.67	0.30194	N	0.799261	D;D	0.67145	0.993;0.996	P;P	0.53649	0.484;0.731	T	0.18745	-1.0327	10	0.51188	T	0.08	-0.9609	8.3272	0.32165	0.0835:0.0:0.7614:0.1551	.	360;399	B4DP13;Q9NWK9	.;BCD1_HUMAN	I	360;399	ENSP00000414344:T360I;ENSP00000359606:T399I	ENSP00000359606:T399I	T	-	2	0	ZNHIT6	85915558	0.995000	0.38212	0.730000	0.30809	0.952000	0.60782	2.038000	0.41184	0.671000	0.31185	0.585000	0.79938	ACT		PASS	0.313	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		31	89	31	89	---	---	---	---
BARHL2	343472	broad.mit.edu	37	1	91177965	91177965	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:91177965C>A	ENST00000370445.4	-	3	1109	c.1068G>T	c.(1066-1068)ctG>ctT	p.L356L		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	356					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.L356L(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CACGGGGCACCAGGGGCCGCT	0.677																																					GBM(199;3561 4100 22440)	uc001dns.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1066-1068)CTG>CTT		BarH-like homeobox 2							16.0	20.0	19.0					1																	91177965		2199	4298	6497	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91177965C>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.1068G>T	1.37:g.91177965C>A							p.L356L	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	3	1110	-		all_lung(203;0.0263)|Lung SC(238;0.128)	356					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.1068G>T	CCDS730.1																																																																																				PASS	0.677	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			8	21	8	21	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92182160	92182160	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:92182160C>T	ENST00000525962.1	-	10	1733	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	TGFBR3_ENST00000370399.2_Missense_Mutation_p.D557N|TGFBR3_ENST00000212355.4_Missense_Mutation_p.D558N			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	558	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.D558N(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGGAAGCATCTCCTTCATCC	0.468																																						uc001doh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1672-1674)GAT>AAT		transforming growth factor, beta receptor III							248.0	253.0	251.0					1																	92182160		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92182160C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1672G>A	1.37:g.92182160C>T	ENSP00000436127:p.Asp558Asn					TGFBR3_uc009wde.2_Missense_Mutation_p.D335N|TGFBR3_uc010osy.1_Missense_Mutation_p.D516N|TGFBR3_uc001doi.2_Missense_Mutation_p.D557N|TGFBR3_uc001doj.2_Missense_Mutation_p.D557N	p.D558N	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	11	2138	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	558			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1672G>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062699	0.76187	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.13	4.21	0.49690	Zona pellucida sperm-binding protein (3);	0.514845	0.21419	N	0.074853	T	0.28928	0.0718	L	0.60455	1.87	0.34695	D	0.726198	P;P;P	0.49307	0.922;0.903;0.922	P;P;P	0.55785	0.784;0.63;0.724	T	0.09015	-1.0694	10	0.16896	T	0.51	-5.1472	14.9809	0.71311	0.1439:0.8561:0.0:0.0	.	558;557;558	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	N	558;557;558;557	ENSP00000212355:D558N;ENSP00000359426:D557N;ENSP00000436127:D558N;ENSP00000432638:D557N	ENSP00000212355:D558N	D	-	1	0	TGFBR3	91954748	0.946000	0.32159	0.596000	0.28811	0.611000	0.37282	3.064000	0.49986	1.149000	0.42402	0.561000	0.74099	GAT		PASS	0.468	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		102	281	102	281	---	---	---	---
HSD3B2	3284	broad.mit.edu	37	1	119962145	119962145	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:119962145T>C	ENST00000543831.1	+	3	496	c.247T>C	c.(247-249)Tgt>Cgt	p.C83R	HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.C83R	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	83					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.C83R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CCACACCGCCTGTATCATTGA	0.478																																						uc001ehs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(247-249)TGT>CGT		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						115.0	92.0	100.0					1																	119962145		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119962145T>C	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.247T>C	1.37:g.119962145T>C	ENSP00000445122:p.Cys83Arg					HSD3B2_uc001eht.2_Missense_Mutation_p.C83R|HSD3B2_uc001ehu.2_Missense_Mutation_p.C83R	p.C83R	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	2	1020	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	83					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.247T>C	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	11.96	1.793370	0.31685	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.87966	-2.32;-2.32;-2.32	3.93	2.74	0.32292	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.354730	0.30302	N	0.009929	T	0.68723	0.3032	L	0.43152	1.355	0.09310	N	0.999995	B;B	0.31705	0.231;0.336	B;B	0.35182	0.112;0.197	T	0.58896	-0.7555	9	.	.	.	-0.8863	8.405	0.32610	0.0:0.0:0.281:0.719	.	83;83	P26439-2;P26439	.;3BHS2_HUMAN	R	83	ENSP00000445122:C83R;ENSP00000388292:C83R;ENSP00000358424:C83R	.	C	+	1	0	HSD3B2	119763668	0.003000	0.15002	0.198000	0.23420	0.067000	0.16453	1.424000	0.34848	0.457000	0.26962	0.248000	0.18094	TGT		PASS	0.478	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		12	22	12	22	---	---	---	---
ZBTB7B	51043	broad.mit.edu	37	1	154988739	154988739	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:154988739C>T	ENST00000368426.3	+	4	1335	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R400C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R434C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R400C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	400					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R400C(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACGGGAGAGCGCCCCTACTC	0.632																																						uc001fgk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1198-1200)CGC>TGC		zinc finger and BTB domain containing 7B							109.0	96.0	100.0					1																	154988739		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988739C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1198C>T	1.37:g.154988739C>T	ENSP00000357411:p.Arg400Cys					ZBTB7B_uc009wpa.2_Missense_Mutation_p.R400C|ZBTB7B_uc001fgj.3_Missense_Mutation_p.R434C|ZBTB7B_uc010peq.1_Missense_Mutation_p.R434C|ZBTB7B_uc001fgl.3_Missense_Mutation_p.R400C	p.R400C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1356	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		400					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1198C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	c	15.61	2.884305	0.51908	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	3.87	3.87	0.44632	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.43875	0.1267	H	0.94462	3.54	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.58454	0.839;0.839;0.839	T	0.61337	-0.7083	10	0.87932	D	0	.	13.6873	0.62524	0.0:1.0:0.0:0.0	.	400;400;434	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	C	400;400;434;400	ENSP00000438647:R400C;ENSP00000357411:R400C;ENSP00000406286:R434C;ENSP00000292176:R400C	ENSP00000292176:R400C	R	+	1	0	ZBTB7B	153255363	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	1.942000	0.40243	2.162000	0.67917	0.457000	0.33378	CGC		PASS	0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		22	192	22	192	---	---	---	---
GBA	2629	broad.mit.edu	37	1	155205560	155205560	+	Missense_Mutation	SNP	G	G	A	rs80356768		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:155205560G>A	ENST00000327247.5	-	10	1532	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000536770.1_Missense_Mutation_p.R321C|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Missense_Mutation_p.R347C|GBA_ENST00000427500.3_Missense_Mutation_p.R385C|GBA_ENST00000368373.3_Missense_Mutation_p.R434C	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	434					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.R434C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	ACAAAGTTACGCACCCAATTG	0.532									Gaucher disease type I																													uc001fjh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2	GRCh37	CM065218	GBA	M		c.(1300-1302)CGT>TGT		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)						135.0	105.0	115.0					1																	155205560		2203	4300	6503	SO:0001583	missense	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155205560G>A	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1300C>T	1.37:g.155205560G>A	ENSP00000314508:p.Arg434Cys					RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.R321C|GBA_uc010pfx.1_Missense_Mutation_p.R385C|GBA_uc001fji.2_Missense_Mutation_p.R434C|GBA_uc001fjj.2_Missense_Mutation_p.R434C|GBA_uc001fjk.2_Missense_Mutation_p.R434C|GBA_uc001fjl.2_Missense_Mutation_p.R434C|GBA_uc010pfy.1_Missense_Mutation_p.R347C	p.R434C	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1450	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		434					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.1300C>T	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	17.33	3.361366	0.61403	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99311	-5.73;-5.73;-5.73;-5.73;-5.73	4.95	4.95	0.65309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.090686	0.44483	D	0.000444	D	0.98460	0.9487	M	0.63843	1.955	0.48511	D	0.999663	P;D;P	0.53745	0.87;0.962;0.928	P;B;B	0.51453	0.67;0.387;0.394	D	0.98164	1.0448	10	0.66056	D	0.02	.	11.6895	0.51508	0.0:0.1786:0.8214:0.0	.	385;321;434	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	C	385;347;434;434;321;391;419	ENSP00000402577:R385C;ENSP00000397986:R347C;ENSP00000357357:R434C;ENSP00000314508:R434C;ENSP00000445560:R321C	ENSP00000314508:R434C	R	-	1	0	GBA	153472184	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.313000	0.51935	2.727000	0.93392	0.655000	0.94253	CGT		PASS	0.532	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		10	66	10	66	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151294	158151294	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:158151294C>T	ENST00000368171.3	+	3	610	c.111C>T	c.(109-111)gcC>gcT	p.A37A		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	37					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.A37A(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CGTCCTTCGCCAATAGCAGCT	0.632																																						uc001frr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(109-111)GCC>GCT		CD1D antigen precursor							149.0	165.0	160.0					1																	158151294		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151294C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.111C>T	1.37:g.158151294C>T						CD1D_uc009wsr.1_Silent_p.A37A|CD1D_uc009wss.2_Silent_p.A37A|CD1D_uc009wst.1_5'UTR	p.A37A	NM_001766	NP_001757	P15813	CD1D_HUMAN			3	610	+	all_hematologic(112;0.0378)		37			Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.111C>T	CCDS1173.1																																																																																				PASS	0.632	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		54	514	54	514	---	---	---	---
OR10T2	128360	broad.mit.edu	37	1	158368351	158368351	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:158368351T>A	ENST00000334438.1	-	1	905	c.906A>T	c.(904-906)aaA>aaT	p.K302N		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K302N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAAGAACTCTTTTCAATGCAG	0.368																																						uc010pih.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(904-906)AAA>AAT		olfactory receptor, family 10, subfamily T,							39.0	37.0	38.0					1																	158368351		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368351T>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.906A>T	1.37:g.158368351T>A	ENSP00000334115:p.Lys302Asn						p.K302N	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	906	-	all_hematologic(112;0.0378)		302			Cytoplasmic (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.906A>T	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.060189	0.36373	.	.	ENSG00000186306	ENST00000334438	T	0.42900	0.96	4.74	3.59	0.41128	.	0.154328	0.29884	N	0.010951	T	0.17408	0.0418	L	0.55834	1.745	0.22656	N	0.998889	P	0.42827	0.791	B	0.39419	0.299	T	0.24404	-1.0161	10	0.62326	D	0.03	.	2.2928	0.04143	0.2346:0.163:0.0:0.6024	.	302	Q8NGX3	O10T2_HUMAN	N	302	ENSP00000334115:K302N	ENSP00000334115:K302N	K	-	3	2	OR10T2	156634975	0.000000	0.05858	0.681000	0.30009	0.795000	0.44927	-0.748000	0.04818	1.977000	0.57605	0.533000	0.62120	AAA		PASS	0.368	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		29	34	29	34	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158450191	158450191	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:158450191C>A	ENST00000368152.1	+	1	524	c.524C>A	c.(523-525)gCc>gAc	p.A175D	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A175D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGCTTCTTGGCCTCTCTTACA	0.473																																						uc010pik.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(523-525)GCC>GAC		olfactory receptor, family 10, subfamily R,							124.0	118.0	120.0					1																	158450191		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450191C>A	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.524C>A	1.37:g.158450191C>A	ENSP00000357134:p.Ala175Asp					uc001fso.1_RNA	p.A175D	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	524	+	all_hematologic(112;0.0378)		175			Helical; Name=4; (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.524C>A	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	10.12	1.263475	0.23136	.	.	ENSG00000198965	ENST00000368152	T	0.38240	1.15	4.48	0.129	0.14739	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07728	0.0194	N	0.05383	-0.06	0.09310	N	1	P	0.38335	0.627	B	0.42062	0.374	T	0.18272	-1.0342	9	0.45353	T	0.12	.	4.9303	0.13914	0.0:0.4976:0.1585:0.344	.	175	Q8NGX6	O10R2_HUMAN	D	175	ENSP00000357134:A175D	ENSP00000357134:A175D	A	+	2	0	OR10R2	156716815	0.000000	0.05858	0.031000	0.17742	0.510000	0.34073	-2.442000	0.01014	0.138000	0.18790	-0.165000	0.13383	GCC		PASS	0.473	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		20	252	20	252	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160264286	160264287	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:160264286_160264287GA>AG	ENST00000241704.7	-	25	2892_2893	c.2663_2664TC>CT	c.(2662-2664)cTC>cCT	p.L888P	COPA_ENST00000368069.3_Missense_Mutation_p.L897P	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	888					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.L888P(2)|p.L897P(2)|p.L888L(1)|p.L897L(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCAGGAGGGAGCTCCAGATC	0.525																																						uc009wti.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)|skin(1)	2						c.(2662-2664)CTC>CTT|c.(2662-2664)CTC>CCC		coatomer protein complex, subunit alpha isoform																																				SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160264286G>A|g.chr1:160264287A>G	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2663_2664delinsAG	1.37:g.160264286_160264287delinsAG	ENSP00000241704:p.Leu888Pro					COPA_uc001fvv.3_Silent_p.L897L|COPA_uc001fvv.3_Missense_Mutation_p.L897P	p.L888L|p.L888P	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		25	3058|3057	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		888					Q5T201|Q8IXZ9	Silent|Missense_Mutation	SNP	ENST00000241704.7	37	c.2664C>T|c.2663T>C	CCDS1202.1																																																																																				PASS	0.525	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		92|94	77	92	77	---	---	---	---
F11R	50848	broad.mit.edu	37	1	160970099	160970099	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:160970099G>A	ENST00000368026.6	-	5	702	c.428C>T	c.(427-429)gCc>gTc	p.A143V	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.A94V|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	143	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A143V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CCCAATGGTGGCAGAGGAGGG	0.512																																						uc009wtt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(427-429)GCC>GTC		F11 receptor precursor							98.0	96.0	97.0					1																	160970099		2203	4300	6503	SO:0001583	missense	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160970099G>A	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.428C>T	1.37:g.160970099G>A	ENSP00000357005:p.Ala143Val					F11R_uc010pjv.1_Missense_Mutation_p.A94V|F11R_uc001fxe.3_Missense_Mutation_p.A143V|F11R_uc009wtu.2_Missense_Mutation_p.A143V|F11R_uc010pjw.1_Missense_Mutation_p.A147V|F11R_uc001fxf.3_Missense_Mutation_p.A143V	p.A143V	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		5	698	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		143			Ig-like V-type 2.|Extracellular (Potential).		B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	c.428C>T	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819744	0.32145	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.09817	2.94;2.94;2.94	5.16	2.28	0.28536	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.433790	0.24309	N	0.039659	T	0.00724	0.0024	N	0.01809	-0.71	0.26362	N	0.977033	B;B;B;B;B	0.31817	0.341;0.003;0.012;0.012;0.012	B;B;B;B;B	0.19946	0.027;0.01;0.007;0.007;0.011	T	0.44574	-0.9319	10	0.08599	T	0.76	.	6.578	0.22577	0.3862:0.0:0.6138:0.0	.	147;94;143;143;143	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	V	143;143;143;94;147	ENSP00000357005:A143V;ENSP00000440812:A94V;ENSP00000394809:A147V	ENSP00000289779:A143V	A	-	2	0	F11R	159236723	0.140000	0.22579	0.997000	0.53966	0.979000	0.70002	0.506000	0.22658	0.326000	0.23384	0.563000	0.77884	GCC		PASS	0.512	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		10	153	10	153	---	---	---	---
SELL	6402	broad.mit.edu	37	1	169670785	169670785	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:169670785G>T	ENST00000236147.4	-	7	1196	c.1036C>A	c.(1036-1038)Ccc>Acc	p.P346T	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	333					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.P333T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ATGAAGAGGGGGTTATAATCA	0.398																																						uc001ggk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(997-999)CCC>ACC		selectin L precursor							49.0	46.0	47.0					1																	169670785		1866	4096	5962	SO:0001583	missense	6402				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	g.chr1:169670785G>T	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.1036C>A	1.37:g.169670785G>T	ENSP00000236147:p.Pro346Thr					C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.P286T|SELL_uc001ggl.1_Missense_Mutation_p.P346T	p.P333T	NM_000655	NP_000646	P14151	LYAM1_HUMAN			7	1195	-	all_hematologic(923;0.208)		333			Helical; (Potential).		B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	c.997C>A	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792824	0.70452	.	.	ENSG00000188404	ENST00000236147	T	0.14022	2.54	5.79	4.88	0.63580	.	0.121046	0.37304	N	0.002153	T	0.18759	0.0450	M	0.71581	2.175	0.37753	D	0.926032	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.96	T	0.09207	-1.0685	10	0.18710	T	0.47	-15.6075	10.7756	0.46348	0.0866:0.0:0.9134:0.0	.	346;333	Q8WW79;P14151	.;LYAM1_HUMAN	T	346	ENSP00000236147:P346T	ENSP00000236147:P346T	P	-	1	0	SELL	167937409	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.489000	0.60309	1.457000	0.47850	0.655000	0.94253	CCC		PASS	0.398	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		4	11	4	11	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169985706	169985706	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:169985706C>T	ENST00000361580.2	-	10	1307	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L	KIFAP3_ENST00000538366.1_Silent_p.L282L|KIFAP3_ENST00000367765.1_Silent_p.L320L|KIFAP3_ENST00000367767.1_Silent_p.L316L|KIFAP3_ENST00000540905.1_Silent_p.L62L	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	360					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.L360L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGATATTCAGCAGGTCTTCAT	0.398																																						uc001ggv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1078-1080)CTG>CTA		kinesin-associated protein 3							147.0	137.0	140.0					1																	169985706		2203	4300	6503	SO:0001819	synonymous_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169985706C>T	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1080G>A	1.37:g.169985706C>T						KIFAP3_uc010plx.1_Silent_p.L62L	p.L360L	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			10	1351	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		360			ARM 1.		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	c.1080G>A	CCDS1288.1																																																																																				PASS	0.398	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		41	172	41	172	---	---	---	---
FMO3	2328	broad.mit.edu	37	1	171073021	171073021	+	Silent	SNP	T	T	C	rs199766869		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:171073021T>C	ENST00000367755.4	+	3	339	c.228T>C	c.(226-228)gaT>gaC	p.D76D	FMO3_ENST00000392085.2_Silent_p.D76D|FMO3_ENST00000542847.1_Silent_p.D56D|FMO3_ENST00000538429.1_Intron|MIR1295A_ENST00000408463.1_RNA	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	76					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.D76D(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CATTTCCCGATGACTTCCCCA	0.423																																						uc001ghi.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(226-228)GAT>GAC		flavin containing monooxygenase 3							143.0	132.0	136.0					1																	171073021		2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171073021T>C	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.228T>C	1.37:g.171073021T>C						FMO3_uc001ghh.2_Silent_p.D76D|FMO3_uc010pmb.1_Silent_p.D56D|FMO3_uc010pmc.1_Intron|MIR1295_hsa-mir-1295|MI0006357_5'Flank	p.D76D	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			3	339	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		76					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.228T>C	CCDS1292.1																																																																																				PASS	0.423	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		52	175	52	175	---	---	---	---
TNFSF18	8995	broad.mit.edu	37	1	173019911	173019911	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:173019911A>T	ENST00000404377.3	-	1	192	c.192T>A	c.(190-192)agT>agA	p.S64R	TNFSF18_ENST00000239468.2_Missense_Mutation_p.S42R|RP1-15D23.2_ENST00000432694.2_lincRNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	64					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.S42R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						AGATTAGCCAACTGAAGGAGC	0.363																																						uc001giu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(190-192)AGT>AGA		tumor necrosis factor (ligand) superfamily,							62.0	56.0	58.0					1																	173019911		2203	4300	6503	SO:0001583	missense	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173019911A>T	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"""Tumor necrosis factor (ligand) superfamily"""	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.192T>A	1.37:g.173019911A>T	ENSP00000385470:p.Ser64Arg						p.S64R	NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN			1	193	-			64			Helical; Signal-anchor for type II membrane protein; (Potential).		A9IQG8|O95852|Q6ISV1	Missense_Mutation	SNP	ENST00000404377.3	37	c.192T>A	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	A	13.59	2.284088	0.40394	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	.	.	.	5.38	3.04	0.35103	.	0.896444	0.09531	N	0.789569	T	0.11367	0.0277	L	0.27053	0.805	0.09310	N	1	P	0.39964	0.697	B	0.38562	0.276	T	0.17198	-1.0377	9	0.54805	T	0.06	-0.6716	7.231	0.26043	0.8206:0.0:0.1794:0.0	.	64	Q9UNG2	TNF18_HUMAN	R	64;42	.	ENSP00000239468:S42R	S	-	3	2	TNFSF18	171286534	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.681000	0.25320	0.423000	0.26033	0.383000	0.25322	AGT		PASS	0.363	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092		22	8	22	8	---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174417424	174417424	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:174417424C>T	ENST00000367685.2	+	1	213	c.175C>T	c.(175-177)Cta>Tta	p.L59L	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	59					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L59L(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TGCTGGGAATCTAACAGTTAT	0.428																																					Ovarian(92;924 1390 1930 16467 40583)	uc001gka.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(175-177)CTA>TTA		G protein-coupled receptor 52							298.0	261.0	274.0					1																	174417424		2203	4300	6503	SO:0001819	synonymous_variant	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417424C>T	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.175C>T	1.37:g.174417424C>T						RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	p.L59L	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN			1	213	+			59			Helical; Name=1; (Potential).		O75654|Q4VBL6|Q6ISM0	Silent	SNP	ENST00000367685.2	37	c.175C>T	CCDS30941.1																																																																																				PASS	0.428	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		18	263	18	263	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176915087	176915087	+	Nonsense_Mutation	SNP	C	C	A	rs138686233	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:176915087C>A	ENST00000367654.3	-	13	2459	c.2248G>T	c.(2248-2250)Gga>Tga	p.G750*	ASTN1_ENST00000361833.2_Nonsense_Mutation_p.G742*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.G742*|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.G742*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	750					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.G742*(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCACCTGTCCGGCAGCCACT	0.463																																						uc001glc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2224-2226)GGA>TGA		astrotactin isoform 1							110.0	118.0	115.0					1																	176915087		2203	4300	6503	SO:0001587	stop_gained	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915087C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2248G>T	1.37:g.176915087C>A	ENSP00000356626:p.Gly750*					ASTN1_uc001glb.1_Nonsense_Mutation_p.G742*|ASTN1_uc001gld.1_Nonsense_Mutation_p.G742*|ASTN1_uc009wwx.1_Nonsense_Mutation_p.G742*	p.G742*	NM_004319	NP_004310	O14525	ASTN1_HUMAN			13	2436	-			750					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	37	c.2224G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.389022	0.98252	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.25	5.25	0.73442	.	0.107853	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.5766	11.9089	0.52727	0.0:0.9195:0.0:0.0805	.	.	.	.	X	742;742;750;742;742	.	ENSP00000354536:G742X	G	-	1	0	ASTN1	175181710	1.000000	0.71417	0.951000	0.38953	0.992000	0.81027	5.539000	0.67199	2.467000	0.83353	0.655000	0.94253	GGA		PASS	0.463	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		54	82	54	82	---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177913779	177913779	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:177913779T>C	ENST00000308284.6	-	15	1887	c.1798A>G	c.(1798-1800)Aca>Gca	p.T600A	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	600					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.T601A(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCCTCAGTTGTTGCAAATTTC	0.463																																						uc001gli.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1798-1800)ACA>GCA		leucine zipper transcription regulator 2							124.0	128.0	127.0					1																	177913779		1886	4111	5997	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177913779T>C	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1798A>G	1.37:g.177913779T>C	ENSP00000308339:p.Thr600Ala					SEC16B_uc001glk.1_Missense_Mutation_p.T277A|SEC16B_uc009wwy.1_Missense_Mutation_p.T155A|SEC16B_uc001glh.1_Missense_Mutation_p.T259A|SEC16B_uc009wwz.1_Missense_Mutation_p.T259A|SEC16B_uc001glj.1_Missense_Mutation_p.T601A	p.T600A	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			15	1888	-			600					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.1798A>G	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279906	0.59758	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.18338	2.22	5.08	2.7	0.31948	.	0.090003	0.48286	N	0.000188	T	0.34716	0.0907	M	0.84683	2.71	0.27540	N	0.950829	D;P;P;P	0.56287	0.975;0.923;0.873;0.923	P;P;P;P	0.57548	0.823;0.519;0.731;0.519	T	0.21965	-1.0230	10	0.66056	D	0.02	-3.7526	6.1993	0.20567	0.1428:0.0807:0.0:0.7765	.	155;601;600;297	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	A	600;284;315	ENSP00000308339:T600A	ENSP00000239472:T315A	T	-	1	0	AL359075.1	176180402	0.977000	0.34250	0.699000	0.30290	0.963000	0.63663	2.328000	0.43867	0.249000	0.21456	0.379000	0.24179	ACA		PASS	0.463	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		44	114	44	114	---	---	---	---
GLUL	2752	broad.mit.edu	37	1	182355396	182355396	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:182355396G>A	ENST00000331872.6	-	4	1010	c.470C>T	c.(469-471)cCc>cTc	p.P157L	GLUL_ENST00000311223.5_Missense_Mutation_p.P157L|GLUL_ENST00000339526.4_Missense_Mutation_p.P157L|GLUL_ENST00000417584.2_Missense_Mutation_p.P157L|GLUL_ENST00000491322.1_5'UTR	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	157					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.P157L(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CTTACCCTGGGGCCCTGGGAA	0.552																																						uc001gpa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)CCC>CTC		glutamine synthetase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						78.0	83.0	81.0					1																	182355396		2203	4300	6503	SO:0001583	missense	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182355396G>A	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.470C>T	1.37:g.182355396G>A	ENSP00000356537:p.Pro157Leu					GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.P157L|GLUL_uc001gpc.1_Missense_Mutation_p.P157L|GLUL_uc001gpd.1_Missense_Mutation_p.P157L	p.P157L	NM_001033056	NP_001028228	P15104	GLNA_HUMAN			4	682	-			157					Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	c.470C>T	CCDS1344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.464178|4.464178	0.84425|0.84425	.|.	.|.	ENSG00000135821|ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526|ENST00000435013	D;D;D;D|.	0.86366|.	-2.11;-2.11;-2.11;-2.11|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);|.	0.144728|0.144728	0.64402|0.64402	D|D	0.000005|0.000005	D|D	0.90445|0.90445	0.7008|0.7008	H|H	0.98256|0.98256	4.185|4.185	0.80722|0.80722	D|D	1|1	P|.	0.43412|.	0.806|.	P|.	0.48770|.	0.589|.	D|D	0.93849|0.93849	0.7143|0.7143	10|7	0.87932|0.87932	D|D	0|0	-13.2884|-13.2884	17.7875|17.7875	0.88542|0.88542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	157|.	P15104|.	GLNA_HUMAN|.	L|S	157|157	ENSP00000356537:P157L;ENSP00000307900:P157L;ENSP00000398320:P157L;ENSP00000344958:P157L|.	ENSP00000307900:P157L|ENSP00000388535:P157S	P|P	-|-	2|1	0|0	GLUL|GLUL	180622019|180622019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.433000|0.433000	0.31745|0.31745	7.562000|7.562000	0.82300|0.82300	2.538000|2.538000	0.85594|0.85594	0.650000|0.650000	0.86243|0.86243	CCC|CCC		PASS	0.552	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		64	122	64	122	---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184663433	184663433	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:184663433C>T	ENST00000318130.8	-	20	2829	c.2563G>A	c.(2563-2565)Gct>Act	p.A855T	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Missense_Mutation_p.A828T	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	855					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.A812T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATGCTTGCAGCATTGTCCATA	0.383																																						uc010pok.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2563-2565)GCT>ACT		ER degradation enhancer, mannosidase alpha-like							109.0	104.0	106.0					1																	184663433		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184663433C>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2563G>A	1.37:g.184663433C>T	ENSP00000318147:p.Ala855Thr					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.A871T	p.A855T	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			20	2824	-			855					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.2563G>A	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502936	0.26949	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.73469	-0.75;-0.75	5.63	2.76	0.32466	.	0.415012	0.23019	N	0.052867	T	0.52517	0.1739	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38243	-0.9670	10	0.31617	T	0.26	.	8.1265	0.31001	0.0:0.6338:0.0:0.3662	.	855	Q9BZQ6	EDEM3_HUMAN	T	855;828	ENSP00000318147:A855T;ENSP00000356482:A828T	ENSP00000318147:A855T	A	-	1	0	EDEM3	182930056	0.005000	0.15991	0.049000	0.19019	0.847000	0.48162	0.698000	0.25571	0.737000	0.32582	0.655000	0.94253	GCT		PASS	0.383	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		18	61	18	61	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190068169	190068169	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:190068169G>T	ENST00000367462.3	-	8	1511	c.1280C>A	c.(1279-1281)aCg>aAg	p.T427K	BRINP3_ENST00000534846.1_Missense_Mutation_p.T325K	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	427					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T427K(1)									ATTCGGACACGTGCACGAGTG	0.582																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1279-1281)ACG>AAG		family with sequence similarity 5, member C							54.0	42.0	46.0					1																	190068169		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190068169G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1280C>A	1.37:g.190068169G>T	ENSP00000356432:p.Thr427Lys					FAM5C_uc010pot.1_Missense_Mutation_p.T325K	p.T427K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1512	-	Prostate(682;0.198)		427					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1280C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241829	0.58995	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.42131	0.98;0.98	5.65	5.65	0.86999	.	0.051382	0.85682	D	0.000000	T	0.36496	0.0969	L	0.40543	1.245	0.41681	D	0.989291	P;B	0.37176	0.586;0.253	B;B	0.32624	0.149;0.032	T	0.33803	-0.9854	10	0.72032	D	0.01	.	17.2216	0.86959	0.0:0.0:1.0:0.0	.	325;427	B7Z260;Q76B58	.;FAM5C_HUMAN	K	427;325	ENSP00000356432:T427K;ENSP00000438022:T325K	ENSP00000356432:T427K	T	-	2	0	FAM5C	188334792	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.190000	0.58365	2.656000	0.90262	0.591000	0.81541	ACG		PASS	0.582	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		11	43	11	43	---	---	---	---
SHISA4	149345	broad.mit.edu	37	1	201860556	201860556	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:201860556C>T	ENST00000362011.6	+	4	694	c.407C>T	c.(406-408)cCa>cTa	p.P136L	SHISA4_ENST00000464117.1_3'UTR|RP11-307B6.3_ENST00000414927.1_RNA	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	136	Pro-rich.					integral component of membrane (GO:0016021)		p.P136L(1)		kidney(1)|lung(4)	5						ACAGGCATCCCAGTGCAGCCA	0.577																																						uc001gxa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)CCA>CTA		shisa homolog 4 precursor							111.0	110.0	110.0					1																	201860556		2203	4300	6503	SO:0001583	missense	149345					integral to membrane		g.chr1:201860556C>T	AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.407C>T	1.37:g.201860556C>T	ENSP00000355064:p.Pro136Leu						p.P136L	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN			4	498	+			136			Cytoplasmic (Potential).|Pro-rich.		B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Missense_Mutation	SNP	ENST00000362011.6	37	c.407C>T	CCDS1416.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190520	0.78789	.	.	ENSG00000198892	ENST00000362011	T	0.41758	0.99	5.17	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.50333	1.59	0.80722	D	1	B	0.21071	0.051	B	0.23716	0.048	T	0.28106	-1.0054	10	0.87932	D	0	-12.7422	10.3629	0.44006	0.0:0.8928:0.0:0.1072	.	136	Q96DD7	SHSA4_HUMAN	L	136	ENSP00000355064:P136L	ENSP00000355064:P136L	P	+	2	0	SHISA4	200127179	1.000000	0.71417	0.939000	0.37840	0.997000	0.91878	3.879000	0.56138	1.040000	0.40099	0.561000	0.74099	CCA		PASS	0.577	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1	NM_198149		22	88	22	88	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216138713	216138713	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:216138713T>A	ENST00000307340.3	-	37	7452	c.7066A>T	c.(7066-7068)Aat>Tat	p.N2356Y	USH2A_ENST00000366943.2_Missense_Mutation_p.N2356Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2356	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N2356Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGAGTCCATTAGGGCGAAAA	0.403										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7066-7068)AAT>TAT		usherin isoform B							149.0	147.0	147.0					1																	216138713		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216138713T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7066A>T	1.37:g.216138713T>A	ENSP00000305941:p.Asn2356Tyr	HNSCC(13;0.011)					p.N2356Y	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	37	7453	-			2356			Extracellular (Potential).|Fibronectin type-III 10.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7066A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.859579	0.71834	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.60040	0.22;0.22	5.56	4.42	0.53409	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.298856	0.23402	N	0.048573	T	0.65059	0.2655	M	0.75264	2.295	0.41018	D	0.985056	P	0.48589	0.912	P	0.48454	0.578	T	0.69939	-0.5009	10	0.87932	D	0	.	12.6655	0.56840	0.0:0.0:0.28:0.72	.	2356	O75445	USH2A_HUMAN	Y	2356	ENSP00000305941:N2356Y;ENSP00000355910:N2356Y	ENSP00000305941:N2356Y	N	-	1	0	USH2A	214205336	1.000000	0.71417	0.259000	0.24435	0.374000	0.29953	3.648000	0.54410	1.041000	0.40125	0.533000	0.62120	AAT		PASS	0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		66	130	66	130	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216258076	216258076	+	Missense_Mutation	SNP	C	C	T	rs535796173		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:216258076C>T	ENST00000307340.3	-	25	5517	c.5131G>A	c.(5131-5133)Gct>Act	p.A1711T	USH2A_ENST00000366943.2_Missense_Mutation_p.A1711T|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1711					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A1711T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTAATGAAGCGGGACATCCC	0.388										HNSCC(13;0.011)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		17209	0.0		0.0	False		,,,				2504	0.0					uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5131-5133)GCT>ACT		usherin isoform B							112.0	109.0	110.0					1																	216258076		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216258076C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5131G>A	1.37:g.216258076C>T	ENSP00000305941:p.Ala1711Thr	HNSCC(13;0.011)					p.A1711T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	25	5518	-			1711			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5131G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	1.540	-0.542150	0.04053	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79141	-1.24;-1.24	4.93	-3.44	0.04796	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);	0.678176	0.12601	N	0.454693	T	0.35038	0.0918	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48163	-0.9059	10	0.02654	T	1	.	6.9954	0.24779	0.1213:0.4377:0.0:0.441	.	1711	O75445	USH2A_HUMAN	T	1711	ENSP00000305941:A1711T;ENSP00000355910:A1711T	ENSP00000305941:A1711T	A	-	1	0	USH2A	214324699	0.000000	0.05858	0.001000	0.08648	0.758000	0.43043	-1.234000	0.02931	-0.643000	0.05473	-0.312000	0.09012	GCT		PASS	0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		23	116	23	116	---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220366599	220366599	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:220366599G>A	ENST00000358951.2	-	13	1369	c.1253C>T	c.(1252-1254)gCa>gTa	p.A418V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	418					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.A418V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CATGCGTATTGCAATTCCTCT	0.388																																						uc010puk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1252-1254)GCA>GTA		rab3 GTPase-activating protein, non-catalytic							119.0	113.0	115.0					1																	220366599		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220366599G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1253C>T	1.37:g.220366599G>A	ENSP00000351832:p.Ala418Val					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR	p.A418V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	13	1417	-			418					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1253C>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960395	0.92791	.	.	ENSG00000118873	ENST00000358951	D	0.89123	-2.47	6.08	6.08	0.98989	.	0.149359	0.64402	D	0.000014	D	0.90017	0.6883	L	0.41573	1.285	0.53005	D	0.999961	D	0.57899	0.981	P	0.56216	0.794	D	0.85303	0.1074	10	0.12766	T	0.61	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	418	Q9H2M9	RBGPR_HUMAN	V	418	ENSP00000351832:A418V	ENSP00000351832:A418V	A	-	2	0	RAB3GAP2	218433222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.412000	0.80091	2.894000	0.99253	0.655000	0.94253	GCA		PASS	0.388	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		13	60	13	60	---	---	---	---
AIDA	64853	broad.mit.edu	37	1	222885580	222885580	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:222885580T>C	ENST00000340020.6	-	1	286	c.80A>G	c.(79-81)cAg>cGg	p.Q27R	BROX_ENST00000539697.1_5'Flank|BROX_ENST00000340934.5_5'Flank|AIDA_ENST00000474863.1_5'UTR|BROX_ENST00000537020.1_5'Flank|AIDA_ENST00000541237.1_Intron|AIDA_ENST00000355727.2_Missense_Mutation_p.Q27R	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	27					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)		p.Q27R(1)		kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						CTCCACCAGCTGGCCCCAAGA	0.652																																						uc001hnn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)CAG>CGG		axin interactor, dorsalization associated							26.0	20.0	22.0					1																	222885580		2203	4299	6502	SO:0001583	missense	64853				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			g.chr1:222885580T>C	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.80A>G	1.37:g.222885580T>C	ENSP00000339161:p.Gln27Arg					AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Intron|C1orf58_uc001hnp.1_5'Flank|C1orf58_uc001hnq.1_5'Flank|C1orf58_uc010put.1_5'Flank|C1orf58_uc010puu.1_5'Flank|C1orf58_uc010puv.1_5'Flank	p.Q27R	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN			1	285	-			27			Potential.		A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	c.80A>G	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	T	34	5.307808	0.95629	.	.	ENSG00000186063	ENST00000340020;ENST00000355727	.	.	.	5.51	4.39	0.52855	Axin interactor, dorsalization-associated protein, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	M	0.63843	1.955	0.80722	D	1	B	0.33512	0.415	D	0.63703	0.917	T	0.80276	-0.1450	9	0.87932	D	0	.	10.7021	0.45933	0.0:0.0753:0.0:0.9247	.	27	Q96BJ3	AIDA_HUMAN	R	27	.	ENSP00000339161:Q27R	Q	-	2	0	AIDA	220952203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.659000	0.61504	0.957000	0.37930	0.449000	0.29647	CAG		PASS	0.652	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831		3	9	3	9	---	---	---	---
LBR	3930	broad.mit.edu	37	1	225598073	225598073	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:225598073C>A	ENST00000338179.2	-	10	1359	c.1234G>T	c.(1234-1236)Gac>Tac	p.D412Y	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.D412Y	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	412					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.D412Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ACAGCGCGGTCCTGTATTTTC	0.428																																						uc001hoy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1234-1236)GAC>TAC		lamin B receptor							121.0	118.0	119.0					1																	225598073		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225598073C>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1234G>T	1.37:g.225598073C>A	ENSP00000339883:p.Asp412Tyr					LBR_uc001hoz.2_Missense_Mutation_p.D412Y|LBR_uc001hpa.1_Missense_Mutation_p.D412Y	p.D412Y	NM_002296	NP_002287	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	10	1377	-	Breast(184;0.165)		412					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1234G>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	7.266	0.606169	0.14002	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000424022	D;D;D	0.98028	-4.67;-4.67;-4.67	5.87	-11.7	0.00046	.	1.174450	0.05633	N	0.582010	D	0.91229	0.7236	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.81258	-0.1014	10	0.56958	D	0.05	-0.2241	12.7584	0.57350	0.0:0.355:0.4443:0.2007	.	412	Q14739	LBR_HUMAN	Y	412;412;43	ENSP00000272163:D412Y;ENSP00000339883:D412Y;ENSP00000397817:D43Y	ENSP00000272163:D412Y	D	-	1	0	LBR	223664696	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.266000	0.02842	-2.661000	0.00419	-0.892000	0.02923	GAC		PASS	0.428	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		20	136	20	136	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228494796	228494796	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:228494796G>C	ENST00000422127.1	+	45	12165	c.12121G>C	c.(12121-12123)Gag>Cag	p.E4041Q	OBSCN_ENST00000366707.4_Missense_Mutation_p.E1675Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.E4998Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4041Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1160Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4041	Ig-like 41.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E4753Q(1)|p.E4041Q(1)|p.E4623Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGCGGAGTGGAGCAGGAGGA	0.642																																						uc009xez.1																			3	Substitution - Missense(3)		lung(3)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(12121-12123)GAG>CAG		obscurin, cytoskeletal calmodulin and							69.0	82.0	78.0					1																	228494796		2194	4285	6479	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494796G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12121G>C	1.37:g.228494796G>C	ENSP00000409493:p.Glu4041Gln					OBSCN_uc001hsn.2_Missense_Mutation_p.E4041Q	p.E4041Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			45	12165	+		Prostate(94;0.0405)	4041			Ig-like 41.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12121G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453032	0.63290	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.81	5.81	0.92471	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.224693	0.37261	N	0.002174	T	0.73528	0.3598	L	0.35414	1.06	0.35223	D	0.776186	D;D	0.69078	0.997;0.997	D;D	0.71656	0.932;0.974	T	0.72487	-0.4278	10	0.21540	T	0.41	.	19.0668	0.93114	0.0:0.0:1.0:0.0	.	4041;4041	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	4041;4041;1675;1160	ENSP00000284548:E4041Q;ENSP00000409493:E4041Q;ENSP00000355668:E1675Q;ENSP00000355670:E1160Q	ENSP00000284548:E4041Q	E	+	1	0	OBSCN	226561419	0.658000	0.27402	0.964000	0.40570	0.045000	0.14185	1.473000	0.35387	2.757000	0.94681	0.462000	0.41574	GAG		PASS	0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	35	20	35	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232564213	232564213	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:232564213C>G	ENST00000366630.1	-	16	4712	c.4354G>C	c.(4354-4356)Gat>Cat	p.D1452H	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D526H|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1452H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1452					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.D1452H(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCAGAAAATCTTCTTTAGAC	0.448																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(4354-4356)GAT>CAT		signal-induced proliferation-associated 1 like							78.0	72.0	74.0					1																	232564213		1877	4117	5994	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232564213C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4354G>C	1.37:g.232564213C>G	ENSP00000355589:p.Asp1452His					SIPA1L2_uc001hvf.2_Missense_Mutation_p.D526H	p.D1452H	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			15	4512	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1452					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4354G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182230	0.94885	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.44881	0.91;0.91;0.91	5.86	5.86	0.93980	.	0.399270	0.27151	N	0.020697	T	0.62780	0.2456	M	0.69358	2.11	0.80722	D	1	D;D	0.59767	0.986;0.958	P;P	0.59948	0.866;0.73	T	0.63655	-0.6588	10	0.87932	D	0	-19.7598	20.1802	0.98196	0.0:1.0:0.0:0.0	.	1452;526	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	H	1452;1452;526	ENSP00000355589:D1452H;ENSP00000262861:D1452H;ENSP00000309102:D526H	ENSP00000262861:D1452H	D	-	1	0	SIPA1L2	230630836	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.829000	0.75314	2.777000	0.95525	0.655000	0.94253	GAT		PASS	0.448	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		27	70	27	70	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769289	247769289	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:247769289C>A	ENST00000320002.2	+	1	434	c.402C>A	c.(400-402)gtC>gtA	p.V134V	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V134V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			ACTATGTAGTCATCATGAACC	0.493																																						uc010pyz.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(400-402)GTC>GTA		olfactory receptor, family 2, subfamily G,							204.0	186.0	192.0					1																	247769289		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769289C>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.402C>A	1.37:g.247769289C>A							p.V134V	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	402	+	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)		134			Cytoplasmic (Potential).		B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.402C>A	CCDS31093.1																																																																																				PASS	0.493	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			35	163	35	163	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769804	247769804	+	Nonsense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:247769804C>A	ENST00000320002.2	+	1	949	c.917C>A	c.(916-918)tCg>tAg	p.S306*	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S306*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			AAACTTCTCTCGGGAAAATTG	0.373																																						uc010pyz.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(916-918)TCG>TAG		olfactory receptor, family 2, subfamily G,							59.0	63.0	61.0					1																	247769804		2203	4300	6503	SO:0001587	stop_gained	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769804C>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.917C>A	1.37:g.247769804C>A	ENSP00000326301:p.Ser306*						p.S306*	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	917	+	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)		306			Cytoplasmic (Potential).		B2RN64|Q5JQT1|Q6IF45	Nonsense_Mutation	SNP	ENST00000320002.2	37	c.917C>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	8.832	0.940260	0.18281	.	.	ENSG00000177476	ENST00000320002	.	.	.	2.9	-0.181	0.13291	.	0.767051	0.10225	U	0.700410	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	3.2764	0.06899	0.0:0.4103:0.21:0.3796	.	.	.	.	X	306	.	ENSP00000326301:S306X	S	+	2	0	OR2G3	245836427	0.000000	0.05858	0.000000	0.03702	0.195000	0.23768	-0.816000	0.04477	-0.032000	0.13758	0.492000	0.49549	TCG		PASS	0.373	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			49	73	49	73	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248367217	248367217	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:248367217C>T	ENST00000456743.1	+	1	886	c.848C>T	c.(847-849)cCc>cTc	p.P283L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P283L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCCTCACTCCCATGTTGAAT	0.483																																						uc010pzg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(847-849)CCC>CTC		olfactory receptor, family 2, subfamily M,							136.0	124.0	128.0					1																	248367217		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367217C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.848C>T	1.37:g.248367217C>T	ENSP00000389625:p.Pro283Leu						p.P283L	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	848	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		283			Helical; Name=7; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.848C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259849	0.59321	.	.	ENSG00000228198	ENST00000456743	T	0.00337	8.05	2.7	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01124	0.0037	H	0.96489	3.83	0.40730	D	0.982737	D	0.71674	0.998	D	0.85130	0.997	T	0.48658	-0.9016	9	0.87932	D	0	.	9.1828	0.37152	0.0:0.8843:0.0:0.1157	.	283	Q8NG83	OR2M3_HUMAN	L	283	ENSP00000389625:P283L	ENSP00000389625:P283L	P	+	2	0	OR2M3	246433840	0.947000	0.32204	0.008000	0.14137	0.108000	0.19459	3.866000	0.56040	0.463000	0.27118	0.531000	0.56144	CCC		PASS	0.483	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		40	90	40	90	---	---	---	---
APOB	338	broad.mit.edu	37	2	21228378	21228378	+	Missense_Mutation	SNP	C	C	T	rs13306191		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:21228378C>T	ENST00000233242.1	-	26	11489	c.11362G>A	c.(11362-11364)Gag>Aag	p.E3788K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3788					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E3788K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTTTACCTCGGGGAGTGTT	0.398																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11362-11364)GAG>AAG		apolipoprotein B precursor	Atorvastatin(DB01076)						121.0	124.0	123.0					2																	21228378		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228378C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11362G>A	2.37:g.21228378C>T	ENSP00000233242:p.Glu3788Lys						p.E3788K	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11490	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3788					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11362G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.374065	0.01214	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00619	6.18	5.57	1.24	0.21308	.	0.312522	0.27000	N	0.021440	T	0.00210	0.0006	N	0.00119	-2.075	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42616	-0.9441	10	0.02654	T	1	.	9.2246	0.37398	0.0:0.0692:0.3408:0.59	rs13306191;rs13306191	3788	P04114	APOB_HUMAN	K	3788	ENSP00000233242:E3788K	ENSP00000233242:E3788K	E	-	1	0	APOB	21081883	0.188000	0.23250	0.968000	0.41197	0.196000	0.23810	-0.006000	0.12833	0.379000	0.24794	-0.290000	0.09829	GAG		PASS	0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			52	174	52	174	---	---	---	---
MFSD2B	388931	broad.mit.edu	37	2	24239810	24239810	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:24239810T>A	ENST00000406420.3	+	4	459	c.443T>A	c.(442-444)tTc>tAc	p.F148Y	MFSD2B_ENST00000338315.4_Missense_Mutation_p.F148Y	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	148					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.F148Y(2)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TACACGACTTTCTACTGCCTG	0.647																																						uc002reo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(442-444)TTC>TAC		major facilitator superfamily domain containing							66.0	72.0	70.0					2																	24239810		2020	4162	6182	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24239810T>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.443T>A	2.37:g.24239810T>A	ENSP00000385527:p.Phe148Tyr					MFSD2B_uc010exz.1_RNA	p.F148Y	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			4	457	+			148					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.443T>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873228	0.72180	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	T;T	0.81415	-1.49;-1.49	5.01	3.86	0.44501	Major facilitator superfamily domain, general substrate transporter (1);	0.402650	0.27971	U	0.017107	D	0.84745	0.5540	M	0.73962	2.25	0.53688	D	0.999972	D	0.53619	0.961	P	0.54590	0.756	D	0.84607	0.0676	10	0.62326	D	0.03	-8.0545	9.8548	0.41079	0.0:0.0829:0.0:0.9171	.	148	A6NFX1	MFS2B_HUMAN	Y	148	ENSP00000385527:F148Y;ENSP00000342501:F148Y	ENSP00000342501:F148Y	F	+	2	0	MFSD2B	24093314	1.000000	0.71417	0.894000	0.35097	0.523000	0.34469	3.210000	0.51129	0.882000	0.36016	0.418000	0.28097	TTC		PASS	0.647	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		27	85	27	85	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27804711	27804711	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:27804711C>A	ENST00000408964.2	+	1	5323	c.5272C>A	c.(5272-5274)Cat>Aat	p.H1758N	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1758	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.H1758N(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGAGAGAAGCCATTGCAGTCC	0.532																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(5272-5274)CAT>AAT		hypothetical protein LOC84226							196.0	200.0	199.0					2																	27804711		1924	4140	6064	SO:0001583	missense	84226							g.chr2:27804711C>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5272C>A	2.37:g.27804711C>A	ENSP00000386190:p.His1758Asn					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.H1758N	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5323	+	Acute lymphoblastic leukemia(172;0.155)		1758			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|16.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5272C>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852219	0.32699	.	.	ENSG00000221843	ENST00000408964	T	0.04917	3.53	3.75	0.734	0.18294	.	.	.	.	.	T	0.05364	0.0142	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45891	-0.9230	9	0.17369	T	0.5	.	2.9589	0.05886	0.3839:0.4022:0.0:0.2139	.	1758	Q68DN1	CB016_HUMAN	N	1758	ENSP00000386190:H1758N	ENSP00000386190:H1758N	H	+	1	0	C2orf16	27658215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.485000	0.06520	0.137000	0.18759	0.462000	0.41574	CAT		PASS	0.532	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		44	228	44	228	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31565125	31565125	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:31565125C>A	ENST00000379416.3	-	32	3491	c.3443G>T	c.(3442-3444)gGg>gTg	p.G1148V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1148					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.G1148V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GAAGGGGTTCCCTGAGTTAGT	0.463																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(3442-3444)GGG>GTG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						122.0	115.0	118.0					2																	31565125		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31565125C>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3443G>T	2.37:g.31565125C>A	ENSP00000368727:p.Gly1148Val						p.G1148V	NM_000379	NP_000370	P47989	XDH_HUMAN			32	3522	-	Acute lymphoblastic leukemia(172;0.155)		1148					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3443G>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985520	0.74589	.	.	ENSG00000158125	ENST00000379416	T	0.38240	1.15	5.68	5.68	0.88126	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.72486	0.3466	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79960	-0.1583	10	0.66056	D	0.02	.	19.4014	0.94630	0.0:1.0:0.0:0.0	.	1148	P47989	XDH_HUMAN	V	1148	ENSP00000368727:G1148V	ENSP00000368727:G1148V	G	-	2	0	XDH	31418629	1.000000	0.71417	0.997000	0.53966	0.377000	0.30045	5.823000	0.69272	2.677000	0.91161	0.491000	0.48974	GGG		PASS	0.463	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		57	143	57	143	---	---	---	---
RASGRP3	25780	broad.mit.edu	37	2	33749082	33749082	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:33749082G>T	ENST00000403687.3	+	8	1393	c.653G>T	c.(652-654)aGg>aTg	p.R218M	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R218M|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R218M	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	218	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.R218M(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CCCCAGCAAAGGGCAGAAGTC	0.413																																						uc002rox.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(652-654)AGG>ATG		RAS guanyl releasing protein 3 (calcium and							203.0	192.0	195.0					2																	33749082		1875	4115	5990	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33749082G>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.653G>T	2.37:g.33749082G>T	ENSP00000384192:p.Arg218Met					RASGRP3_uc010ync.1_Missense_Mutation_p.R218M|RASGRP3_uc002roy.2_Missense_Mutation_p.R218M	p.R218M	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			9	1280	+	all_hematologic(175;0.115)		218			Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.653G>T	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988748	0.93106	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.71103	-0.54;-0.54;-0.54	5.51	5.51	0.81932	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.90469	0.7015	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.93561	0.6895	10	0.87932	D	0	-15.4747	19.4394	0.94811	0.0:0.0:1.0:0.0	.	218;218	D6W583;Q8IV61	.;GRP3_HUMAN	M	218	ENSP00000385886:R218M;ENSP00000384192:R218M;ENSP00000383917:R218M	ENSP00000385886:R218M	R	+	2	0	RASGRP3	33602586	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.864000	0.99589	2.581000	0.87130	0.655000	0.94253	AGG		PASS	0.413	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		96	240	96	240	---	---	---	---
ATL2	64225	broad.mit.edu	37	2	38604324	38604324	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:38604324T>G	ENST00000378954.4	-	1	80	c.79A>C	c.(79-81)Agc>Cgc	p.S27R	ATL2_ENST00000419554.2_Missense_Mutation_p.S27R|ATL2_ENST00000332337.4_5'Flank|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000402054.1_5'Flank|ATL2_ENST00000452935.2_5'Flank|ATL2_ENST00000546051.1_5'Flank	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	27					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.S27R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						ACCGCGGCGCTTGGGTCGCTG	0.682																																						uc002rqq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(79-81)AGC>CGC		atlastin GTPase 2 isoform 2							21.0	28.0	26.0					2																	38604324		2200	4295	6495	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38604324T>G		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.79A>C	2.37:g.38604324T>G	ENSP00000368237:p.Ser27Arg					ATL2_uc010ynm.1_5'Flank|ATL2_uc010ynn.1_5'Flank|ATL2_uc010yno.1_5'Flank|ATL2_uc002rqs.2_Missense_Mutation_p.S27R|ATL2_uc002rqr.2_5'UTR	p.S27R	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN			1	109	-			27			Cytoplasmic.		B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.79A>C	CCDS46260.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.038|9.038	0.989031|0.989031	0.18966|0.18966	.|.	.|.	ENSG00000119787|ENSG00000119787	ENST00000443098|ENST00000378954;ENST00000419554;ENST00000449130;ENST00000451483	.|D;D;D;T	.|0.90133	.|-1.77;-1.8;-2.62;1.64	3.68|3.68	1.36|1.36	0.22044|0.22044	.|.	.|0.945487	.|0.08773	.|N	.|0.895974	D|D	0.82664|0.82664	0.5086|0.5086	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999992|0.999992	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.71567|0.71567	-0.4554|-0.4554	5|10	.|0.72032	.|D	.|0.01	-0.0663|-0.0663	4.5706|4.5706	0.12208|0.12208	0.0:0.2751:0.0:0.7249|0.0:0.2751:0.0:0.7249	.|.	.|27;27	.|Q8NHH9-2;Q8NHH9	.|.;ATLA2_HUMAN	H|R	25|27	.|ENSP00000368237:S27R;ENSP00000415336:S27R;ENSP00000409811:S27R;ENSP00000404921:S27R	.|ENSP00000368237:S27R	Q|S	-|-	3|1	2|0	ATL2|ATL2	38457828|38457828	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.007000|0.007000	0.05969|0.05969	0.204000|0.204000	0.17335|0.17335	0.555000|0.555000	0.29079|0.29079	0.528000|0.528000	0.53228|0.53228	CAA|AGC		PASS	0.682	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		14	30	14	30	---	---	---	---
MTA3	57504	broad.mit.edu	37	2	42936085	42936085	+	Silent	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:42936085A>G	ENST00000405094.1	+	14	1374	c.1374A>G	c.(1372-1374)ccA>ccG	p.P458P	MTA3_ENST00000405592.1_Silent_p.P401P|MTA3_ENST00000406652.1_Silent_p.P401P|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406911.1_Silent_p.P457P|MTA3_ENST00000407270.3_Silent_p.P458P			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	458						intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P458P(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CTGGGAGTCCAAAGTCTGCAG	0.502																																						uc002rso.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1201-1203)CCA>CCG		metastasis associated 1 family, member 3							142.0	140.0	141.0					2																	42936085		1918	4116	6034	SO:0001819	synonymous_variant	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42936085A>G	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1374A>G	2.37:g.42936085A>G						MTA3_uc002rsp.1_Silent_p.P401P|MTA3_uc002rsq.2_Silent_p.P458P|MTA3_uc002rsr.2_Silent_p.P457P	p.P401P	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN			15	1873	+			458					Q9NSP2|Q9ULF4	Silent	SNP	ENST00000405094.1	37	c.1203A>G																																																																																					PASS	0.502	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		65	143	65	143	---	---	---	---
RHOQ	23433	broad.mit.edu	37	2	46803780	46803780	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:46803780G>A	ENST00000238738.4	+	4	766	c.447G>A	c.(445-447)caG>caA	p.Q149Q	RP11-417F21.1_ENST00000506009.2_RNA	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	149					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)	p.Q149Q(1)		skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AACAAGGACAGAAACTAGCAA	0.323																																						uc002rva.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(445-447)CAG>CAA		ras-like protein TC10 precursor							81.0	84.0	83.0					2																	46803780		2203	4300	6503	SO:0001819	synonymous_variant	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46803780G>A	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"""RAS-like, family 7, member A"", ""ras homolog gene family, member Q"""	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.447G>A	2.37:g.46803780G>A						uc002rvb.2_Intron	p.Q149Q	NM_012249	NP_036381	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		4	766	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	149					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Silent	SNP	ENST00000238738.4	37	c.447G>A	CCDS33191.1																																																																																				PASS	0.323	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		25	55	25	55	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915006	48915006	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:48915006A>C	ENST00000294954.7	-	11	1951	c.1930T>G	c.(1930-1932)Tgt>Ggt	p.C644G	LHCGR_ENST00000344775.3_Missense_Mutation_p.C582G|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.C617G|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	644					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.C644G(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CGACGTTTACAGCAGCCAAAT	0.378																																						uc002rwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1930-1932)TGT>GGT		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						96.0	100.0	99.0					2																	48915006		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915006A>C		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1930T>G	2.37:g.48915006A>C	ENSP00000294954:p.Cys644Gly					GTF2A1L_uc002rwt.2_Intron	p.C644G	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	2000	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	644	C->G: Loss of palmitoylation.		Cytoplasmic (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1930T>G	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586066	0.66105	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.95377	-3.69;-3.69;-3.69	5.92	5.92	0.95590	.	0.044496	0.85682	D	0.000000	D	0.97955	0.9327	M	0.89214	3.015	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.98623	1.0668	9	.	.	.	.	15.5521	0.76161	1.0:0.0:0.0:0.0	.	644	P22888	LSHR_HUMAN	G	582;644;617	ENSP00000344301:C582G;ENSP00000294954:C644G;ENSP00000386033:C617G	.	C	-	1	0	LHCGR	48768510	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.511000	0.81718	2.267000	0.75376	0.477000	0.44152	TGT		PASS	0.378	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		61	143	61	143	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915786	48915786	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:48915786G>T	ENST00000294954.7	-	11	1171	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	LHCGR_ENST00000344775.3_Missense_Mutation_p.L322I|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.L357I|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	384					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.L384I(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CTTGTCAGGAGAACAAAAAGA	0.428																																						uc002rwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1150-1152)CTC>ATC		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						96.0	97.0	97.0					2																	48915786		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915786G>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1150C>A	2.37:g.48915786G>T	ENSP00000294954:p.Leu384Ile					GTF2A1L_uc002rwt.2_Intron	p.L384I	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1220	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	384			Helical; Name=1; (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1150C>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063744	0.55432	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.36157	1.27;1.27;1.27	5.65	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	L	0.48174	1.505	0.50313	D	0.999865	D	0.76494	0.999	D	0.85130	0.997	T	0.42816	-0.9429	9	.	.	.	.	9.6213	0.39723	0.1562:0.0:0.8438:0.0	.	384	P22888	LSHR_HUMAN	I	322;384;357	ENSP00000344301:L322I;ENSP00000294954:L384I;ENSP00000386033:L357I	.	L	-	1	0	LHCGR	48769290	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.087000	0.57671	1.374000	0.46228	0.655000	0.94253	CTC		PASS	0.428	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		37	75	37	75	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54112848	54112848	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:54112848C>G	ENST00000404125.1	-	41	4849	c.4794G>C	c.(4792-4794)caG>caC	p.Q1598H	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.Q742H	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1598					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.Q1484H(1)|p.Q1598H(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAGGTAGAAGCTGAAGTTGTT	0.368																																						uc002rxp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(4792-4794)CAG>CAC		proteasome (prosome, macropain) activator							114.0	105.0	108.0					2																	54112848		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54112848C>G	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4794G>C	2.37:g.54112848C>G	ENSP00000384211:p.Gln1598His					PSME4_uc010yop.1_Missense_Mutation_p.Q1484H|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.Q973H|PSME4_uc010fbv.1_Missense_Mutation_p.Q742H|PSME4_uc010fbt.1_Missense_Mutation_p.Q85H	p.Q1598H	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		41	4850	-			1598					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.4794G>C	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055102	0.36277	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.66638	-0.22;-0.22	5.14	2.31	0.28768	Armadillo-type fold (1);	0.103133	0.64402	D	0.000002	T	0.53286	0.1787	L	0.47716	1.5	0.42629	D	0.993378	B;B;B;B	0.21606	0.02;0.058;0.058;0.02	B;B;B;B	0.21546	0.024;0.035;0.035;0.016	T	0.42481	-0.9449	10	0.30854	T	0.27	.	5.9857	0.19432	0.0:0.6343:0.1348:0.2309	.	973;742;742;1598	Q14997-2;Q14997-3;F8WB44;Q14997	.;.;.;PSME4_HUMAN	H	742;1598	ENSP00000410830:Q742H;ENSP00000384211:Q1598H	ENSP00000384211:Q1598H	Q	-	3	2	PSME4	53966352	0.795000	0.28851	1.000000	0.80357	0.993000	0.82548	-0.006000	0.12833	0.557000	0.29117	0.585000	0.79938	CAG		PASS	0.368	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		22	53	22	53	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60687991	60687991	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:60687991A>C	ENST00000335712.6	-	4	2283	c.2056T>G	c.(2056-2058)Tcc>Gcc	p.S686A	BCL11A_ENST00000537768.1_Missense_Mutation_p.S355A|BCL11A_ENST00000538214.1_Missense_Mutation_p.S652A|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.S686A|BCL11A_ENST00000358510.4_Missense_Mutation_p.S652A	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	686					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.S686A(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCCGACGAGGAGGCAAAAGGC	0.647			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		2	Substitution - Missense(2)		lung(2)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2056-2058)TCC>GCC		B-cell CLL/lymphoma 11A isoform 1							41.0	51.0	48.0					2																	60687991		2201	4295	6496	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687991A>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2056T>G	2.37:g.60687991A>C	ENSP00000338774:p.Ser686Ala					BCL11A_uc002sab.2_Missense_Mutation_p.S686A|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.S355A|BCL11A_uc010ypj.1_Missense_Mutation_p.S652A|BCL11A_uc002sad.1_Missense_Mutation_p.S534A|BCL11A_uc002saf.1_Missense_Mutation_p.S652A	p.S686A	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2284	-			686					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.2056T>G	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746416	0.30955	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09911	2.93;3.36;3.11;3.37;3.29	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	N	0.22421	0.69	0.53688	D	0.999973	D;P;B;P;P	0.53151	0.958;0.956;0.244;0.653;0.801	P;P;B;B;B	0.62184	0.523;0.899;0.123;0.174;0.387	T	0.02498	-1.1150	10	0.02654	T	1	-2.4949	16.1905	0.81986	1.0:0.0:0.0:0.0	.	652;355;652;686;686	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	A	686;711;652;355;686;652	ENSP00000349300:S686A;ENSP00000438303:S652A;ENSP00000443712:S355A;ENSP00000338774:S686A;ENSP00000351307:S652A	ENSP00000338774:S686A	S	-	1	0	BCL11A	60541495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.947000	0.70242	2.212000	0.71576	0.533000	0.62120	TCC		PASS	0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		33	144	33	144	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61633028	61633028	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:61633028C>T	ENST00000398571.2	-	3	443	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	123					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E123K(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GATTTTTTTTCTATTGATTTT	0.343																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(367-369)GAA>AAA		ubiquitin specific protease 34							133.0	117.0	122.0					2																	61633028		1809	4062	5871	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61633028C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.367G>A	2.37:g.61633028C>T	ENSP00000381577:p.Glu123Lys						p.E123K	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		3	389	-			123					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.367G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.973077	0.34848	.	.	ENSG00000115464	ENST00000398571	T	0.14144	2.53	6.17	6.17	0.99709	.	0.000000	0.24635	U	0.036852	T	0.12433	0.0302	L	0.29908	0.895	0.36540	D	0.871216	B	0.29037	0.231	B	0.19946	0.027	T	0.21211	-1.0252	10	0.18276	T	0.48	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	123	Q70CQ2	UBP34_HUMAN	K	123	ENSP00000381577:E123K	ENSP00000381577:E123K	E	-	1	0	USP34	61486532	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	4.994000	0.63901	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			48	195	48	195	---	---	---	---
B3GNT2	10678	broad.mit.edu	37	2	62450499	62450499	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:62450499G>C	ENST00000301998.4	+	2	1396	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	B3GNT2_ENST00000405767.1_Missense_Mutation_p.E382Q	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	382					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.E382Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AAAACCTCAAGAGATGATTGA	0.333																																						uc002sbs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1144-1146)GAG>CAG		UDP-GlcNAc:betaGal							45.0	48.0	47.0					2																	62450499		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62450499G>C	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.1144G>C	2.37:g.62450499G>C	ENSP00000305595:p.Glu382Gln						p.E382Q	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	1382	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		382			Lumenal (Potential).		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.1144G>C	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268667	0.59540	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.31510	1.49;1.49	5.54	5.54	0.83059	.	0.045456	0.85682	D	0.000000	T	0.37156	0.0993	L	0.60455	1.87	0.58432	D	0.999998	P	0.45768	0.866	B	0.42361	0.385	T	0.12967	-1.0527	10	0.41790	T	0.15	.	19.4986	0.95083	0.0:0.0:1.0:0.0	.	382	Q9NY97	B3GN2_HUMAN	Q	382	ENSP00000305595:E382Q;ENSP00000384692:E382Q	ENSP00000305595:E382Q	E	+	1	0	B3GNT2	62304003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.811000	0.86092	2.598000	0.87819	0.650000	0.86243	GAG		PASS	0.333	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		11	273	11	273	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71747932	71747932	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:71747932C>T	ENST00000258104.3	+	11	1228	c.951C>T	c.(949-951)ctC>ctT	p.L317L	DYSF_ENST00000429174.2_Silent_p.L317L|DYSF_ENST00000409582.3_Silent_p.L348L|DYSF_ENST00000410020.3_Silent_p.L349L|DYSF_ENST00000394120.2_Silent_p.L318L|DYSF_ENST00000409366.1_Silent_p.L318L|DYSF_ENST00000413539.2_Silent_p.L348L|DYSF_ENST00000410041.1_Silent_p.L349L|DYSF_ENST00000409744.1_Silent_p.L318L|DYSF_ENST00000409762.1_Silent_p.L348L|DYSF_ENST00000409651.1_Silent_p.L349L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	317					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.L317L(1)|p.L349L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACGCCTATCTCAGGAAGTGGC	0.587																																						uc002sie.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(949-951)CTC>CTT		dysferlin isoform 8							99.0	95.0	96.0					2																	71747932		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71747932C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.951C>T	2.37:g.71747932C>T						DYSF_uc010feg.2_Silent_p.L348L|DYSF_uc010feh.2_Silent_p.L317L|DYSF_uc002sig.3_Silent_p.L317L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L317L|DYSF_uc010fef.2_Silent_p.L348L|DYSF_uc010fei.2_Silent_p.L348L|DYSF_uc010fek.2_Silent_p.L349L|DYSF_uc010fej.2_Silent_p.L318L|DYSF_uc010fel.2_Silent_p.L318L|DYSF_uc010feo.2_Silent_p.L349L|DYSF_uc010fem.2_Silent_p.L318L|DYSF_uc010fen.2_Silent_p.L349L|DYSF_uc002sif.2_Silent_p.L318L	p.L317L	NM_003494	NP_003485	O75923	DYSF_HUMAN			11	1327	+			317			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.951C>T	CCDS1918.1																																																																																				PASS	0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		22	90	22	90	---	---	---	---
SPR	6697	broad.mit.edu	37	2	73118645	73118645	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:73118645C>T	ENST00000234454.5	+	3	838	c.765C>T	c.(763-765)caC>caT	p.H255H	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	255					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)	p.H255H(1)		lung(4)|ovary(2)	6						CTGGAGCCCACGTGGACTTCT	0.527																																						uc002sik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(763-765)CAC>CAT		sepiapterin reductase							83.0	76.0	78.0					2																	73118645		2203	4300	6503	SO:0001819	synonymous_variant	6697				nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity	g.chr2:73118645C>T		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	11257	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 38C, member 1"""	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.765C>T	2.37:g.73118645C>T							p.H255H	NM_003124	NP_003115	P35270	SPRE_HUMAN			3	815	+			255					A8K741|D6W5H2|Q53GI9|Q9UBB1	Silent	SNP	ENST00000234454.5	37	c.765C>T	CCDS1920.1																																																																																				PASS	0.527	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			17	49	17	49	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385532	79385532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:79385532C>A	ENST00000409839.3	-	4	289	c.253G>T	c.(253-255)Gga>Tga	p.G85*	REG3A_ENST00000305165.2_Nonsense_Mutation_p.G85*|REG3A_ENST00000393878.1_Nonsense_Mutation_p.G85*|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	85	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.G85*(1)|p.G85R(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACGAAGGATCCCTCAGCCCCA	0.572																																						uc002sod.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	skin(1)	1						c.(253-255)GGA>TGA		pancreatitis-associated protein precursor							138.0	115.0	123.0					2																	79385532		2203	4300	6503	SO:0001587	stop_gained	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385532C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.253G>T	2.37:g.79385532C>A	ENSP00000386630:p.Gly85*					REG3A_uc002soe.1_Nonsense_Mutation_p.G85*|REG3A_uc002sof.1_Nonsense_Mutation_p.G85*	p.G85*	NM_138938	NP_620355	Q06141	REG3A_HUMAN			3	508	-			85			C-type lectin.			Nonsense_Mutation	SNP	ENST00000409839.3	37	c.253G>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168632	0.78339	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	.	.	.	4.02	4.02	0.46733	.	0.563830	0.15977	N	0.235475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.9367	0.52878	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000304311:G85X	G	-	1	0	REG3A	79239040	0.011000	0.17503	0.199000	0.23439	0.110000	0.19582	1.711000	0.37930	2.529000	0.85273	0.603000	0.83216	GGA		PASS	0.572	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		27	82	27	82	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385579	79385579	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:79385579T>C	ENST00000409839.3	-	4	242	c.206A>G	c.(205-207)cAg>cGg	p.Q69R	REG3A_ENST00000305165.2_Missense_Mutation_p.Q69R|REG3A_ENST00000393878.1_Missense_Mutation_p.Q69R|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	69	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.Q69R(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGGCCGCTTCTGGCAGGCCAG	0.577																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(205-207)CAG>CGG		pancreatitis-associated protein precursor							85.0	77.0	80.0					2																	79385579		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385579T>C	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.206A>G	2.37:g.79385579T>C	ENSP00000386630:p.Gln69Arg					REG3A_uc002soe.1_Missense_Mutation_p.Q69R|REG3A_uc002sof.1_Missense_Mutation_p.Q69R	p.Q69R	NM_138938	NP_620355	Q06141	REG3A_HUMAN			3	461	-			69			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.206A>G	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	T	8.504	0.864831	0.17250	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18810	2.19;2.19;2.19	4.02	2.87	0.33458	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.135297	0.34362	N	0.004023	T	0.32645	0.0836	L	0.50847	1.595	0.26080	N	0.981104	D	0.62365	0.991	D	0.83275	0.996	T	0.05733	-1.0867	10	0.28530	T	0.3	.	6.2039	0.20591	0.0:0.1137:0.0:0.8863	.	69	Q06141	REG3A_HUMAN	R	69	ENSP00000386630:Q69R;ENSP00000377456:Q69R;ENSP00000304311:Q69R	ENSP00000304311:Q69R	Q	-	2	0	REG3A	79239087	0.998000	0.40836	0.968000	0.41197	0.015000	0.08874	1.849000	0.39318	0.891000	0.36235	-0.322000	0.08575	CAG		PASS	0.577	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		24	74	24	74	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385871	79385871	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:79385871G>C	ENST00000409839.3	-	3	137	c.101C>G	c.(100-102)cCc>cGc	p.P34R	REG3A_ENST00000305165.2_Missense_Mutation_p.P34R|REG3A_ENST00000393878.1_Missense_Mutation_p.P34R|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	34					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.P34R(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CCGTGCAGAGGGCAGTTCCCT	0.547																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(100-102)CCC>CGC		pancreatitis-associated protein precursor							75.0	70.0	72.0					2																	79385871		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385871G>C	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.101C>G	2.37:g.79385871G>C	ENSP00000386630:p.Pro34Arg					REG3A_uc002soe.1_Missense_Mutation_p.P34R|REG3A_uc002sof.1_Missense_Mutation_p.P34R	p.P34R	NM_138938	NP_620355	Q06141	REG3A_HUMAN			2	356	-			34						Missense_Mutation	SNP	ENST00000409839.3	37	c.101C>G	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230897	0.39399	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.16324	2.35;2.35;2.35	3.83	-1.61	0.08399	C-type lectin-like (1);	1.451490	0.04302	N	0.347413	T	0.21307	0.0513	M	0.76002	2.32	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40887	-0.9539	10	0.72032	D	0.01	.	5.9136	0.19041	0.1957:0.4696:0.3347:0.0	.	34	Q06141	REG3A_HUMAN	R	34	ENSP00000386630:P34R;ENSP00000377456:P34R;ENSP00000304311:P34R	ENSP00000304311:P34R	P	-	2	0	REG3A	79239379	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.815000	0.04481	-0.312000	0.08741	-0.224000	0.12420	CCC		PASS	0.547	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		8	37	8	37	---	---	---	---
THNSL2	55258	broad.mit.edu	37	2	88472876	88472876	+	Silent	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:88472876A>G	ENST00000324166.5	+	1	1898	c.207A>G	c.(205-207)ccA>ccG	p.P69P	THNSL2_ENST00000449349.1_Silent_p.P37P|THNSL2_ENST00000358591.2_Silent_p.P69P|THNSL2_ENST00000402102.1_Silent_p.P69P|THNSL2_ENST00000377254.3_Silent_p.P69P|THNSL2_ENST00000343544.4_Silent_p.P69P	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	69					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.P69P(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCTCCTTCCAAAAGATGAAT	0.517																																						uc002ssz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(205-207)CCA>CCG		threonine synthase-like 2							49.0	43.0	45.0					2																	88472876		2203	4300	6503	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88472876A>G		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.207A>G	2.37:g.88472876A>G						THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Silent_p.P69P|THNSL2_uc002ssx.3_Silent_p.P37P|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Silent_p.P69P	p.P69P	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			2	360	+			69					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.207A>G	CCDS2002.2																																																																																				PASS	0.517	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		23	43	23	43	---	---	---	---
IGKV1-9	28941	broad.mit.edu	37	2	89309744	89309744	+	RNA	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:89309744G>C	ENST00000493819.1	-	0	143									immunoglobulin kappa variable 1-9																		GAAGGATGGAGACTGGGTCAA	0.453																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							144.0	139.0	141.0					2																	89309744		1900	4096	5996			0							g.chr2:89309744G>C	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309744G>C						uc002stl.2_Intron								74		-									RNA	SNP	ENST00000493819.1	37	c.6603C>G																																																																																					PASS	0.453	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		25	246	25	246	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95537339	95537339	+	Silent	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:95537339G>T	ENST00000295201.4	+	1	152	c.15G>T	c.(13-15)gtG>gtT	p.V5V	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.V5V	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	5					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.V5V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGCAGACAGTGCCGCCCTGCG	0.692																																						uc002stw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(13-15)GTG>GTT		tektin 4							10.0	11.0	11.0					2																	95537339		2143	4202	6345	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537339G>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.15G>T	2.37:g.95537339G>T						uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.V5V	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			1	108	+			5						Silent	SNP	ENST00000295201.4	37	c.15G>T	CCDS2005.1																																																																																				PASS	0.692	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		8	27	8	27	---	---	---	---
MRPS5	64969	broad.mit.edu	37	2	95770428	95770428	+	Silent	SNP	C	C	A	rs374549779		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:95770428C>A	ENST00000272418.2	-	7	928	c.720G>T	c.(718-720)tcG>tcT	p.S240S		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	240	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.S240S(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AGACACGGATCGATTTCTTTC	0.478																																						uc002sub.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(718-720)TCG>TCT		mitochondrial ribosomal protein S5							184.0	158.0	167.0					2																	95770428		2203	4300	6503	SO:0001819	synonymous_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95770428C>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.720G>T	2.37:g.95770428C>A						MRPS5_uc002suc.2_Intron|MRPS5_uc010yud.1_Silent_p.S240S	p.S240S	NM_031902	NP_114108	P82675	RT05_HUMAN			7	938	-			240			S5 DRBM.		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	c.720G>T	CCDS2010.1																																																																																				PASS	0.478	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		17	66	17	66	---	---	---	---
FER1L5	90342	broad.mit.edu	37	2	97361286	97361286	+	RNA	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:97361286C>A	ENST00000457909.1	+	0	3285							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1288Y(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						AAGGCGAGCTCCCCCCAGCTC	0.592																																						uc010fia.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3862-3864)TCC>TAC		fer-1-like 5 isoform 2							20.0	22.0	22.0					2																	97361286		1890	4105	5995			90342					integral to membrane		g.chr2:97361286C>A	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97361286C>A						FER1L5_uc002sws.3_Missense_Mutation_p.S6Y|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_Missense_Mutation_p.S6Y|FER1L5_uc010yus.1_Missense_Mutation_p.S6Y	p.S1288Y	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			34	3863	+			1288					Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37	c.3863C>A		.	.	.	.	.	.	.	.	.	.	C	6.694	0.496760	0.12762	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	4.45	3.5	0.40072	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	2.205680	0.02912	N	0.136801	T	0.53965	0.1829	L	0.60012	1.86	.	.	.	B;B;B	0.15141	0.006;0.012;0.004	B;B;B	0.17098	0.017;0.007;0.01	T	0.44574	-0.9319	8	0.52906	T	0.07	-7.7881	9.1943	0.37217	0.549:0.451:0.0:0.0	.	6;1288;6	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	Y	1288;1302;6	.	ENSP00000442027:S6Y	S	+	2	0	FER1L5	96725013	0.138000	0.22547	0.201000	0.23476	0.523000	0.34469	2.880000	0.48530	0.942000	0.37525	0.456000	0.33151	TCC		PASS	0.592	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		7	12	7	12	---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101581391	101581391	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:101581391A>C	ENST00000335681.5	+	9	1071	c.786A>C	c.(784-786)ttA>ttC	p.L262F	NPAS2_ENST00000542504.1_Missense_Mutation_p.L327F	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	262	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L262F(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAAATTTTTATTTCTGGATC	0.403																																						uc002tap.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(784-786)TTA>TTC		neuronal PAS domain protein 2							64.0	67.0	66.0					2																	101581391		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101581391A>C	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.786A>C	2.37:g.101581391A>C	ENSP00000338283:p.Leu262Phe					NPAS2_uc010yvt.1_Missense_Mutation_p.L327F	p.L262F	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			9	1072	+			262			PAS 2.		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.786A>C	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624228	0.66901	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.20332	2.08;2.08	5.44	1.8	0.24995	PAS fold-3 (1);PAS (2);	0.000000	0.64402	D	0.000001	T	0.45377	0.1339	M	0.84948	2.725	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.34204	-0.9838	10	0.87932	D	0	.	8.1922	0.31374	0.7029:0.0:0.2971:0.0	.	327;262	F5H027;Q99743	.;NPAS2_HUMAN	F	262;327	ENSP00000338283:L262F;ENSP00000438428:L327F	ENSP00000338283:L262F	L	+	3	2	NPAS2	100947823	0.972000	0.33761	1.000000	0.80357	0.999000	0.98932	0.170000	0.16663	0.073000	0.16731	0.533000	0.62120	TTA		PASS	0.403	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			24	81	24	81	---	---	---	---
IL1R1	3554	broad.mit.edu	37	2	102781466	102781466	+	Silent	SNP	A	A	G	rs144946641	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:102781466A>G	ENST00000410023.1	+	4	612	c.294A>G	c.(292-294)gtA>gtG	p.V98V	IL1R1_ENST00000424272.1_Silent_p.V98V|IL1R1_ENST00000233946.3_Silent_p.V98V|IL1R1_ENST00000409329.1_Silent_p.V98V|IL1R1_ENST00000409929.1_Silent_p.V98V|IL1R1_ENST00000409589.1_Silent_p.V98V|IL1R1_ENST00000409288.1_Silent_p.V98V			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	98	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.V98V(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATTGCGTGGTAAGGTAAGAGA	0.358													A|||	16	0.00319489	0.0121	0.0	5008	,	,		18836	0.0		0.0	False		,,,				2504	0.0					uc002tbq.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(292-294)GTA>GTG		interleukin 1 receptor, type I precursor	Anakinra(DB00026)	A		24,4382	30.8+/-60.4	0,24,2179	99.0	90.0	93.0		294	-5.0	0.3	2	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	IL1R1	NM_000877.2		0,24,6479	GG,GA,AA		0.0,0.5447,0.1845		98/570	102781466	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102781466A>G	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.294A>G	2.37:g.102781466A>G						IL1R1_uc010fix.2_Silent_p.V98V|IL1R1_uc002tbp.2_Silent_p.V98V|IL1R1_uc002tbr.2_Silent_p.V98V	p.V98V	NM_000877	NP_000868	P14778	IL1R1_HUMAN			4	612	+			98			Extracellular (Potential).|Ig-like C2-type 1.		Q587I7	Silent	SNP	ENST00000410023.1	37	c.294A>G	CCDS2055.1																																																																																				PASS	0.358	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			27	70	27	70	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112541942	112541942	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:112541942C>A	ENST00000341068.3	-	41	5725	c.4953G>T	c.(4951-4953)ttG>ttT	p.L1651F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1651					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.L1651F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAGGAGCCATCAATTCTTCTT	0.443																																						uc002thi.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(4951-4953)TTG>TTT		anaphase promoting complex subunit 1							113.0	92.0	99.0					2																	112541942		2203	4296	6499	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112541942C>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.4953G>T	2.37:g.112541942C>A	ENSP00000339109:p.Leu1651Phe						p.L1651F	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			41	5200	-			1651					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.4953G>T	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.126002|2.126002	0.37533|0.37533	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|.	.|.	.|.	4.63|4.63	3.52|3.52	0.40303|0.40303	.|.	.|0.127728	.|0.30620	.|N	.|0.009236	T|T	0.49184|0.49184	0.1542|0.1542	M|M	0.65975|0.65975	2.015|2.015	0.44807|0.44807	D|D	0.997811|0.997811	.|B	.|0.34015	.|0.435	.|B	.|0.33042	.|0.157	T|T	0.50499|0.50499	-0.8821|-0.8821	5|9	.|0.36615	.|T	.|0.2	-8.8398|-8.8398	5.3591|5.3591	0.16077|0.16077	0.1442:0.6239:0.1411:0.0907|0.1442:0.6239:0.1411:0.0907	.|.	.|1651	.|Q9H1A4	.|APC1_HUMAN	Y|F	1186|1651	.|.	.|ENSP00000339109:L1651F	D|L	-|-	1|3	0|2	ANAPC1|ANAPC1	112258413|112258413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.916000|1.916000	0.39986|0.39986	2.108000|2.108000	0.64289|0.64289	0.555000|0.555000	0.69702|0.69702	GAT|TTG		PASS	0.443	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		15	203	15	203	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128471306	128471306	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:128471306C>A	ENST00000322313.4	-	18	3317	c.3159G>T	c.(3157-3159)ccG>ccT	p.P1053P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1053					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P1053P(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CAGGGGGAAACGGAGGCCCAG	0.652																																						uc002tpg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(3157-3159)CCG>CCT		WD repeat domain 33 isoform 1							62.0	67.0	65.0					2																	128471306		2203	4300	6503	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471306C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3159G>T	2.37:g.128471306C>A							p.P1053P	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3342	-	Colorectal(110;0.1)		1053					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.3159G>T	CCDS2150.1																																																																																				PASS	0.652	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		62	148	62	148	---	---	---	---
GPR148	344561	broad.mit.edu	37	2	131487666	131487666	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:131487666C>T	ENST00000309926.4	+	1	1024	c.942C>T	c.(940-942)gcC>gcT	p.A314A		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A314A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TTCCCCGTGCCATGCTCACAT	0.587																																						uc002trv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(940-942)GCC>GCT		G protein-coupled receptor 148							99.0	78.0	85.0					2																	131487666		2203	4300	6503	SO:0001819	synonymous_variant	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487666C>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.942C>T	2.37:g.131487666C>T							p.A314A	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	944	+	Colorectal(110;0.1)		314			Helical; Name=7; (Potential).		Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	c.942C>T	CCDS2163.1																																																																																				PASS	0.587	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		34	63	34	63	---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	143913212	143913212	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:143913212G>A	ENST00000295095.6	+	2	320	c.153G>A	c.(151-153)aaG>aaA	p.K51K	ARHGAP15_ENST00000409869.1_Silent_p.K51K	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	51					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.K51K(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATGTCGGGAAGGTCACTGAAC	0.408																																						uc002tvm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(151-153)AAG>AAA		ARHGAP15							104.0	95.0	98.0					2																	143913212		2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913212G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.153G>A	2.37:g.143913212G>A						ARHGAP15_uc010zbl.1_Silent_p.K51K	p.K51K	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	2	304	+			51					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.153G>A	CCDS2184.1																																																																																				PASS	0.408	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		24	84	24	84	---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157182456	157182456	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:157182456T>G	ENST00000339562.4	-	8	1959	c.1597A>C	c.(1597-1599)Aat>Cat	p.N533H	NR4A2_ENST00000426264.1_Missense_Mutation_p.N470H|NR4A2_ENST00000539077.1_Missense_Mutation_p.N544H|NR4A2_ENST00000429376.1_Missense_Mutation_p.K435T|NR4A2_ENST00000409572.1_Missense_Mutation_p.N533H|NR4A2_ENST00000409108.2_Missense_Mutation_p.K498T	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	533					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.N533H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTGAGACAATTTACAATCTTG	0.438																																						uc002tyz.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1597-1599)AAT>CAT		nuclear receptor subfamily 4, group A, member 2							126.0	126.0	126.0					2																	157182456		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182456T>G	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1597A>C	2.37:g.157182456T>G	ENSP00000344479:p.Asn533His					NR4A2_uc002tyx.3_Missense_Mutation_p.N470H|NR4A2_uc010zcf.1_Missense_Mutation_p.N533H	p.N533H	NM_006186	NP_006177	P43354	NR4A2_HUMAN			8	2019	-			533					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1597A>C	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.01|11.01	1.513299|1.513299	0.27123|0.27123	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000409108;ENST00000429376|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	D;D|D;D;D;D	0.92647|0.97256	-3.08;-3.02|-4.31;-4.31;-4.31;-4.31	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97377|0.97377	0.9142|0.9142	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.67145	.|0.996	.|P	.|0.61592	.|0.891	D|D	0.98106|0.98106	1.0417|1.0417	7|10	0.87932|0.72032	D|D	0|0.01	.|.	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|533	.|P43354	.|NR4A2_HUMAN	T|H	498;435|533;470;533;544	ENSP00000386993:K498T;ENSP00000410952:K435T|ENSP00000344479:N533H;ENSP00000389986:N470H;ENSP00000386747:N533H;ENSP00000444925:N544H	ENSP00000386993:K498T|ENSP00000344479:N533H	K|N	-|-	2|1	0|0	NR4A2|NR4A2	156890702|156890702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.186000|6.186000	0.72026|0.72026	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	AAA|AAT		PASS	0.438	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			26	63	26	63	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160335124	160335124	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:160335124G>C	ENST00000392783.2	-	3	602	c.107C>G	c.(106-108)aCt>aGt	p.T36S	BAZ2B_ENST00000343439.5_Missense_Mutation_p.T36S|BAZ2B_ENST00000483316.1_5'UTR|BAZ2B_ENST00000392782.1_Missense_Mutation_p.T36S|BAZ2B_ENST00000355831.2_Missense_Mutation_p.T36S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T36S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGCAACTCCAGTGGAAAGGCC	0.403																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(106-108)ACT>AGT		bromodomain adjacent to zinc finger domain, 2B							144.0	141.0	142.0					2																	160335124		1901	4127	6028	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160335124G>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.107C>G	2.37:g.160335124G>C	ENSP00000376534:p.Thr36Ser					BAZ2B_uc002uap.2_Missense_Mutation_p.T36S|BAZ2B_uc002uas.1_Missense_Mutation_p.T36S|BAZ2B_uc002uau.1_Missense_Mutation_p.T36S|BAZ2B_uc002uat.3_Missense_Mutation_p.T36S|BAZ2B_uc010fop.1_Missense_Mutation_p.T36S	p.T36S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			3	459	-			36					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.107C>G	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730655	0.69074	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335;ENST00000541068;ENST00000437839	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.78	5.78	0.91487	.	0.000000	0.31519	U	0.007514	T	0.50222	0.1603	L	0.44542	1.39	0.33318	D	0.566926	P;P;D;B;B	0.57257	0.942;0.879;0.979;0.356;0.243	P;B;P;B;B	0.58520	0.647;0.352;0.84;0.164;0.079	T	0.55585	-0.8118	10	0.49607	T	0.09	-10.9142	19.1458	0.93467	0.0:0.0:1.0:0.0	.	36;36;36;36;36	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	S	36	ENSP00000376533:T36S;ENSP00000376534:T36S;ENSP00000348087:T36S;ENSP00000339670:T36S;ENSP00000441341:T36S;ENSP00000415613:T36S	ENSP00000339670:T36S	T	-	2	0	BAZ2B	160043370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.595000	0.74109	2.894000	0.99253	0.591000	0.81541	ACT		PASS	0.403	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			7	171	7	171	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163369169	163369169	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:163369169A>T	ENST00000332142.5	-	5	1007	c.908T>A	c.(907-909)gTc>gAc	p.V303D	KCNH7_ENST00000477019.1_Intron|KCNH7_ENST00000328032.4_Intron	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	303					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.V303D(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATTACCTTTGACATTGCGACC	0.348																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(907-909)GTC>GAC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						254.0	227.0	236.0					2																	163369169		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163369169A>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.908T>A	2.37:g.163369169A>T	ENSP00000331727:p.Val303Asp					KCNH7_uc002uci.2_Intron	p.V303D	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			5	1120	-			303			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.908T>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407562	0.42715	.	.	ENSG00000184611	ENST00000332142	D	0.98684	-5.07	5.23	5.23	0.72850	.	0.309552	0.35378	N	0.003247	D	0.95475	0.8530	N	0.22421	0.69	0.80722	D	1	B	0.33448	0.412	B	0.28553	0.091	D	0.95189	0.8306	10	0.25106	T	0.35	.	15.4031	0.74858	1.0:0.0:0.0:0.0	.	303	Q9NS40	KCNH7_HUMAN	D	303	ENSP00000331727:V303D	ENSP00000331727:V303D	V	-	2	0	KCNH7	163077415	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	8.193000	0.89719	2.112000	0.64535	0.482000	0.46254	GTC		PASS	0.348	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		20	89	20	89	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163693138	163693138	+	Silent	SNP	G	G	A	rs374582778		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:163693138G>A	ENST00000332142.5	-	2	315	c.216C>T	c.(214-216)ccC>ccT	p.P72P	KCNH7_ENST00000328032.4_Silent_p.P72P	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	72					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.P72P(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCTTGGTCTCGGGTCCATGGA	0.483																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(214-216)CCC>CCT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						93.0	78.0	83.0					2																	163693138		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163693138G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.216C>T	2.37:g.163693138G>A						KCNH7_uc002uci.2_Silent_p.P72P	p.P72P	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			2	428	-			72			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.216C>T	CCDS2219.1																																																																																				PASS	0.483	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		22	70	22	70	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168105878	168105878	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:168105878T>G	ENST00000409195.1	+	9	8065	c.7976T>G	c.(7975-7977)gTt>gGt	p.V2659G	XIRP2_ENST00000409273.1_Missense_Mutation_p.V2437G|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2659G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2484					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.V2659G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAAGGAAGTTTTACAAAGC	0.403																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(7975-7977)GTT>GGT		xin actin-binding repeat containing 2 isoform 1							53.0	52.0	52.0					2																	168105878		1889	4097	5986	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105878T>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7976T>G	2.37:g.168105878T>G	ENSP00000386840:p.Val2659Gly					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V2484G|XIRP2_uc010fpq.2_Missense_Mutation_p.V2437G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.V5G	p.V2659G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7994	+			2484					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7976T>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	9.978	1.227280	0.22542	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02682	4.2;4.2;4.21	6.07	-2.28	0.06826	.	0.837312	0.10677	N	0.646853	T	0.01558	0.0050	N	0.12182	0.205	0.21933	N	0.999469	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.48822	-0.9001	10	0.17832	T	0.49	-0.8647	6.365	0.21449	0.0:0.3377:0.2455:0.4168	.	2484;2484;2437	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	2659;2659;2437;73	ENSP00000386840:V2659G;ENSP00000295237:V2659G;ENSP00000387255:V2437G	ENSP00000295237:V2659G	V	+	2	0	XIRP2	167814124	0.000000	0.05858	0.113000	0.21522	0.899000	0.52679	-0.267000	0.08619	-0.307000	0.08804	-0.291000	0.09656	GTT		PASS	0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	110	6	110	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168107114	168107114	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:168107114A>G	ENST00000409195.1	+	9	9301	c.9212A>G	c.(9211-9213)gAa>gGa	p.E3071G	XIRP2_ENST00000409273.1_Missense_Mutation_p.E2849G|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3071G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2896					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E3071G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAACAGAAAGAAAATAAAATT	0.353																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(9211-9213)GAA>GGA		xin actin-binding repeat containing 2 isoform 1							78.0	74.0	75.0					2																	168107114		1855	4098	5953	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107114A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9212A>G	2.37:g.168107114A>G	ENSP00000386840:p.Glu3071Gly					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2896G|XIRP2_uc010fpq.2_Missense_Mutation_p.E2849G|XIRP2_uc010fpr.2_Intron	p.E3071G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9230	+			2896					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9212A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.537855	0.45176	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02890	4.12;4.12;4.12	5.78	5.78	0.91487	.	0.740065	0.13604	N	0.375621	T	0.10078	0.0247	M	0.67953	2.075	0.37679	D	0.92343	D;D;D	0.56287	0.958;0.975;0.975	P;P;P	0.56343	0.63;0.796;0.796	T	0.05194	-1.0900	10	0.46703	T	0.11	-23.4366	10.6143	0.45441	0.729:0.271:0.0:0.0	.	2896;2896;2849	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	3071;3071;2849;485	ENSP00000386840:E3071G;ENSP00000295237:E3071G;ENSP00000387255:E2849G	ENSP00000295237:E3071G	E	+	2	0	XIRP2	167815360	0.026000	0.19158	0.992000	0.48379	0.488000	0.33401	0.672000	0.25187	2.206000	0.71126	0.455000	0.32223	GAA		PASS	0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		27	86	27	86	---	---	---	---
SP5	389058	broad.mit.edu	37	2	171573769	171573769	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:171573769C>A	ENST00000375281.3	+	2	1214	c.1052C>A	c.(1051-1053)aCg>aAg	p.T351K	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	351					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.T351K(1)		NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CGGACTCACACGGGCGAGAAG	0.632																																						uc002uge.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1051-1053)ACG>AAG		Sp5 transcription factor							26.0	26.0	26.0					2																	171573769		2199	4298	6497	SO:0001583	missense	389058				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:171573769C>A		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.1052C>A	2.37:g.171573769C>A	ENSP00000364430:p.Thr351Lys						p.T351K	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN			2	1218	+			351						Missense_Mutation	SNP	ENST00000375281.3	37	c.1052C>A	CCDS33322.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230426	0.95207	.	.	ENSG00000204335	ENST00000375281	T	0.24538	1.85	5.59	5.59	0.84812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57957	-0.7721	10	0.87932	D	0	.	19.9651	0.97262	0.0:1.0:0.0:0.0	.	351	Q6BEB4	SP5_HUMAN	K	351	ENSP00000364430:T351K	ENSP00000364430:T351K	T	+	2	0	SP5	171282015	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	7.729000	0.84864	2.793000	0.96121	0.655000	0.94253	ACG		PASS	0.632	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		12	29	12	29	---	---	---	---
HOXD10	3236	broad.mit.edu	37	2	176983792	176983792	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:176983792T>A	ENST00000249501.4	+	2	1111	c.856T>A	c.(856-858)Ttg>Atg	p.L286M	HOXD-AS2_ENST00000440016.2_RNA|HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	286					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L286M(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AAAAGAGTTCTTGTTCAATAT	0.483																																						uc002ukj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(856-858)TTG>ATG		homeobox D10							90.0	95.0	93.0					2																	176983792		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176983792T>A		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.856T>A	2.37:g.176983792T>A	ENSP00000249501:p.Leu286Met						p.L286M	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	2	926	+			286			Homeobox.		Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.856T>A	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512151	0.64522	.	.	ENSG00000128710	ENST00000249501	D	0.96232	-3.95	5.94	5.94	0.96194	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96999	0.9020	L	0.41027	1.25	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97919	1.0313	10	0.87932	D	0	.	16.0682	0.80903	0.0:0.0:0.0:1.0	.	286	P28358	HXD10_HUMAN	M	286	ENSP00000249501:L286M	ENSP00000249501:L286M	L	+	1	2	HOXD10	176692038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.049000	0.57397	2.272000	0.75746	0.459000	0.35465	TTG		PASS	0.483	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			52	117	52	117	---	---	---	---
HOXD3	3232	broad.mit.edu	37	2	177036654	177036654	+	Silent	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:177036654G>T	ENST00000468418.3	+	4	3041	c.951G>T	c.(949-951)gcG>gcT	p.A317A	HOXD3_ENST00000410016.1_Silent_p.A317A|HOXD3_ENST00000249440.3_Silent_p.A317A|HOXD-AS1_ENST00000416928.2_RNA			P31249	HXD3_HUMAN	homeobox D3	317					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A317A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCTACACGGCGCCACTCAGCA	0.692																																						uc002ukt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(949-951)GCG>GCT		homeobox D3							11.0	12.0	12.0					2																	177036654		2157	4234	6391	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036654G>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.951G>T	2.37:g.177036654G>T							p.A317A	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	1127	+			317					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.951G>T	CCDS2270.1																																																																																				PASS	0.692	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			9	17	9	17	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098803	178098803	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:178098803C>A	ENST00000397062.3	-	2	796	c.242G>T	c.(241-243)gGt>gTt	p.G81V	NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65V|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65V|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65V|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65V	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G81D(5)|p.G81V(4)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GAGAAATTCACCTGTCTCTTC	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		10	Substitution - Missense(9)|Deletion - In frame(1)		lung(4)|oesophagus(2)|liver(2)|endometrium(1)|kidney(1)	central_nervous_system(1)	1						c.(241-243)GGT>GTT		nuclear factor erythroid 2-like 2 isoform 1							143.0	142.0	142.0					2																	178098803		1901	4105	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098803C>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.242G>T	2.37:g.178098803C>A	ENSP00000380252:p.Gly81Val	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.G65V|NFE2L2_uc010zfa.1_Missense_Mutation_p.G65V|NFE2L2_uc002uli.3_Missense_Mutation_p.G65V|NFE2L2_uc010fra.2_Missense_Mutation_p.G65V|NFE2L2_uc010frb.2_Missense_Mutation_p.G65V	p.G81V	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	797	-			81					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.242G>T	CCDS42782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.883817|4.883817	0.91814|0.91814	.|.	.|.	ENSG00000116044|ENSG00000116044	ENST00000449627|ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	.|T;T;T;T;T;T	.|0.52983	.|1.19;1.19;1.19;0.64;0.64;1.19	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.75110	.|0.3805	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;1.0;0.999	.|T	.|0.78563	.|-0.2156	.|10	.|0.87932	.|D	.|0	.|.	19.9976|19.9976	0.97389|0.97389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|65;65;65;81	.|E9PGJ7;B4DNB0;C9JFL6;Q16236	.|.;.;.;NF2L2_HUMAN	.|V	-1|65;81;65;65;65;65	.|ENSP00000380253:G65V;ENSP00000380252:G81V;ENSP00000411575:G65V;ENSP00000400073:G65V;ENSP00000412191:G65V;ENSP00000410015:G65V	.|ENSP00000380252:G81V	.|G	-|-	.|2	.|0	NFE2L2|NFE2L2	177807049|177807049	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.993000|0.993000	0.82548|0.82548	7.298000|7.298000	0.78815|0.78815	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	.|GGT		PASS	0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		45	80	45	80	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179253830	179253830	+	Missense_Mutation	SNP	A	A	T	rs150809294		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:179253830A>T	ENST00000190611.4	+	21	2627	c.2251A>T	c.(2251-2253)Atc>Ttc	p.I751F	OSBPL6_ENST00000409045.3_Missense_Mutation_p.I720F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.I715F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.I715F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.I776F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.I755F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	751					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.I776F(1)|p.I751F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGAAGTAACCATCAGAAATAC	0.358																																						uc002ulx.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2251-2253)ATC>TTC		oxysterol-binding protein-like protein 6 isoform							136.0	117.0	123.0					2																	179253830		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179253830A>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2251A>T	2.37:g.179253830A>T	ENSP00000190611:p.Ile751Phe					OSBPL6_uc002uly.2_Missense_Mutation_p.I776F|OSBPL6_uc010zfe.1_Missense_Mutation_p.I720F|OSBPL6_uc002ulz.2_Missense_Mutation_p.I715F|OSBPL6_uc002uma.2_Missense_Mutation_p.I755F	p.I751F	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		21	2629	+			751					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2251A>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373227	0.82573	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.65	1.93	0.25924	.	0.135474	0.64402	D	0.000003	T	0.63319	0.2501	M	0.87269	2.87	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.954;0.997;0.985;0.999	D;P;D;P;D	0.87578	0.998;0.743;0.984;0.687;0.985	T	0.61898	-0.6968	10	0.87932	D	0	-7.0444	7.0821	0.25237	0.7443:0.1246:0.1311:0.0	.	720;755;715;776;751	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	F	776;715;720;751;715;755	ENSP00000376293:I776F;ENSP00000352713:I715F;ENSP00000387248:I720F;ENSP00000190611:I751F;ENSP00000386885:I715F;ENSP00000318723:I755F	ENSP00000190611:I751F	I	+	1	0	OSBPL6	178962076	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.297000	0.65704	0.146000	0.19002	0.533000	0.62120	ATC		PASS	0.358	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		31	71	31	71	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179615909	179615909	+	Intron	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:179615909C>G	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3740H|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA			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)			AACAGAATATCTTTATCACTA	0.343																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11218-11220)GAT>CAT		titin isoform novex-3							54.0	52.0	53.0					2																	179615909		2201	4296	6497	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615909C>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+1941G>C	2.37:g.179615909C>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.D3740H	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11442	-			9588					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.11218G>C		.	.	.	.	.	.	.	.	.	.	C	15.15	2.748044	0.49257	.	.	ENSG00000155657	ENST00000360870	T	0.62105	0.05	5.24	4.3	0.51218	.	.	.	.	.	T	0.45756	0.1358	N	0.14661	0.345	0.23156	N	0.998201	P	0.42203	0.773	B	0.41666	0.363	T	0.34229	-0.9837	9	0.66056	D	0.02	.	8.2204	0.31539	0.1579:0.7593:0.0:0.0829	.	3740	Q8WZ42-6	.	H	3740	ENSP00000354117:D3740H	ENSP00000354117:D3740H	D	-	1	0	TTN	179324154	0.000000	0.05858	0.009000	0.14445	0.005000	0.04900	0.511000	0.22739	2.884000	0.98904	0.655000	0.94253	GAT		PASS	0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	89	38	89	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179616722	179616722	+	Intron	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:179616722G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3469S|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA			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)	p.R3469C(2)		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)			AAGGCGTCACGTGTATCCCTT	0.353																																						uc002unb.2																			2	Substitution - Missense(2)		large_intestine(2)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10405-10407)CGT>AGT		titin isoform novex-3							132.0	147.0	142.0					2																	179616722		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616722G>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.10360+1128C>A	2.37:g.179616722G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.R3469S	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10629	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.10405C>A		.	.	.	.	.	.	.	.	.	.	G	0.014	-1.587341	0.00872	.	.	ENSG00000155657	ENST00000360870;ENST00000446208	T	0.59772	0.24	5.86	3.86	0.44501	.	.	.	.	.	T	0.60248	0.2254	L	0.29908	0.895	0.37137	D	0.90153	D	0.65815	0.995	D	0.62955	0.909	T	0.60469	-0.7257	9	0.19147	T	0.46	.	14.6187	0.68569	0.0:0.0:0.7269:0.2731	.	3469	Q8WZ42-6	.	S	3469;74	ENSP00000354117:R3469S	ENSP00000354117:R3469S	R	-	1	0	TTN	179324967	0.004000	0.15560	0.065000	0.19835	0.033000	0.12548	1.182000	0.32029	1.459000	0.47892	0.655000	0.94253	CGT		PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		98	306	98	306	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179623731	179623731	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:179623731G>A	ENST00000591111.1	-	44	10507	c.10283C>T	c.(10282-10284)aCa>aTa	p.T3428I	TTN_ENST00000359218.5_Missense_Mutation_p.T3382I|TTN_ENST00000460472.2_Missense_Mutation_p.T3382I|TTN_ENST00000342175.6_Missense_Mutation_p.T3382I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T3428I|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T3428I|TTN_ENST00000342992.6_Missense_Mutation_p.T3428I|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13740	Ig-like 20.				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)	p.T3428I(3)|p.T3382I(3)		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)			CAGGTTGGCTGTGCTTGATAC	0.378																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10282-10284)ACA>ATA		titin isoform N2-A							131.0	124.0	127.0					2																	179623731		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179623731G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10283C>T	2.37:g.179623731G>A	ENSP00000465570:p.Thr3428Ile					TTN_uc010zfh.1_Missense_Mutation_p.T3382I|TTN_uc010zfi.1_Missense_Mutation_p.T3382I|TTN_uc010zfj.1_Missense_Mutation_p.T3382I|TTN_uc002umz.1_Missense_Mutation_p.T89I|TTN_uc002unb.2_Missense_Mutation_p.T3428I	p.T3428I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10507	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.10283C>T		.	.	.	.	.	.	.	.	.	.	G	15.19	2.760249	0.49468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000446208	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79997	0.4543	L	0.51914	1.62	0.30296	N	0.789899	D;D;D;D;D	0.89917	0.994;0.994;0.994;0.994;1.0	D;D;D;P;D	0.74674	0.912;0.912;0.912;0.892;0.984	T	0.76822	-0.2817	9	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	3382;3382;3382;3428;3428	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	3428;3382;3382;3382;3382;3428;33	ENSP00000343764:T3428I;ENSP00000434586:T3382I;ENSP00000340554:T3382I;ENSP00000352154:T3382I;ENSP00000354117:T3428I	ENSP00000340554:T3382I	T	-	2	0	TTN	179331976	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.500000	0.73687	2.861000	0.98227	0.655000	0.94253	ACA		PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	96	45	96	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179636016	179636016	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:179636016C>A	ENST00000591111.1	-	34	8262	c.8038G>T	c.(8038-8040)Gcc>Tcc	p.A2680S	TTN_ENST00000359218.5_Missense_Mutation_p.A2634S|TTN_ENST00000460472.2_Missense_Mutation_p.A2634S|TTN_ENST00000342175.6_Missense_Mutation_p.A2634S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A2680S|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A2680S|TTN_ENST00000342992.6_Missense_Mutation_p.A2680S			Q8WZ42	TITIN_HUMAN	titin	13005	Ig-like 15.				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)	p.A2634S(3)|p.A2680S(3)		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)			AATTTGGTGGCAGCAATGATA	0.438																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8038-8040)GCC>TCC		titin isoform N2-A							199.0	165.0	177.0					2																	179636016		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179636016C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8038G>T	2.37:g.179636016C>A	ENSP00000465570:p.Ala2680Ser					TTN_uc010zfh.1_Missense_Mutation_p.A2634S|TTN_uc010zfi.1_Missense_Mutation_p.A2634S|TTN_uc010zfj.1_Missense_Mutation_p.A2634S|TTN_uc002unb.2_Missense_Mutation_p.A2680S	p.A2680S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		34	8262	-			2680					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.8038G>T		.	.	.	.	.	.	.	.	.	.	C	14.28	2.487011	0.44249	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.04234	3.67;3.67;3.67;3.67;3.67	6.17	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04227	0.0117	N	0.13299	0.325	0.21740	N	0.999566	B;B;B;B;B	0.25809	0.007;0.007;0.016;0.021;0.135	B;B;B;B;B	0.24701	0.014;0.014;0.014;0.009;0.055	T	0.38866	-0.9641	9	0.87932	D	0	.	11.5637	0.50792	0.0:0.8646:0.0:0.1354	.	2634;2634;2634;2680;2680	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	2680;2634;2634;2634;2634;2680	ENSP00000343764:A2680S;ENSP00000434586:A2634S;ENSP00000340554:A2634S;ENSP00000352154:A2634S;ENSP00000354117:A2680S	ENSP00000340554:A2634S	A	-	1	0	TTN	179344261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.654000	0.61469	1.632000	0.50472	0.655000	0.94253	GCC		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	76	23	76	---	---	---	---
ZNF385B	151126	broad.mit.edu	37	2	180309691	180309691	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:180309691C>T	ENST00000410066.1	-	9	1712	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	ZNF385B_ENST00000336917.5_Missense_Mutation_p.R268Q|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R294Q|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R268Q	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	370	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.R370Q(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTTATGCCTTCGGCTAGAAAT	0.418																																					Colon(155;204 2491 32774 51842)	uc002unn.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1108-1110)CGA>CAA		zinc finger protein 385B isoform 1							183.0	180.0	181.0					2																	180309691		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180309691C>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1109G>A	2.37:g.180309691C>T	ENSP00000386845:p.Arg370Gln					ZNF385B_uc002unj.2_Missense_Mutation_p.R268Q|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.R267Q|ZNF385B_uc002unm.2_Missense_Mutation_p.R294Q	p.R370Q	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		9	1713	-			370			Matrin-type 4.		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.1109G>A	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759923	0.89932	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.44	4.56	0.56223	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	M	0.76170	2.325	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.57306	-0.7834	10	0.87932	D	0	-12.6409	14.6058	0.68478	0.0:0.9293:0.0:0.0707	.	370;294	Q569K4;Q569K4-2	Z385B_HUMAN;.	Q	370;268;294;268	ENSP00000386845:R370Q;ENSP00000338225:R268Q;ENSP00000386379:R294Q;ENSP00000386507:R268Q	ENSP00000338225:R268Q	R	-	2	0	ZNF385B	180017936	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.635000	0.83286	1.429000	0.47314	0.557000	0.71058	CGA		PASS	0.418	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		99	156	99	156	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189875023	189875023	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:189875023T>A	ENST00000304636.3	+	49	4113	c.3943T>A	c.(3943-3945)Tgg>Agg	p.W1315R	COL3A1_ENST00000317840.5_Missense_Mutation_p.W1012R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1315	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.W1315R(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ACGGAAACACTGGTGGACAGA	0.398																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(3943-3945)TGG>AGG		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						144.0	142.0	143.0					2																	189875023		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189875023T>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3943T>A	2.37:g.189875023T>A	ENSP00000304408:p.Trp1315Arg						p.W1315R	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		49	4060	+			1315			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3943T>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905854	0.72868	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.75938	-0.98;-0.98	5.93	5.93	0.95920	Fibrillar collagen, C-terminal (3);	0.000000	0.47093	D	0.000241	D	0.89213	0.6651	M	0.91038	3.17	0.43693	D	0.996143	D	0.89917	1.0	D	0.97110	1.0	D	0.91478	0.5202	10	0.87932	D	0	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1315	P02461	CO3A1_HUMAN	R	1315;1012	ENSP00000304408:W1315R;ENSP00000315243:W1012R	ENSP00000304408:W1315R	W	+	1	0	COL3A1	189583268	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	TGG		PASS	0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		48	99	48	99	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198948716	198948716	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:198948716G>T	ENST00000428675.1	+	2	873	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.D61Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	159	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.D61Y(1)|p.D159Y(1)|p.D61N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCCAAGCTTGATATTTCTGC	0.443																																						uc010fsp.2																			3	Substitution - Missense(3)		lung(2)|skin(1)	ovary(1)|skin(1)	2						c.(475-477)GAT>TAT		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						80.0	86.0	84.0					2																	198948716		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948716G>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.475G>T	2.37:g.198948716G>T	ENSP00000402861:p.Asp159Tyr					PLCL1_uc002uuv.3_Missense_Mutation_p.D80Y	p.D159Y	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	766	+			159			PH.|Interaction with PPP1C.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.475G>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556188	0.86231	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.19105	2.17;2.17	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.46190	0.1380	M	0.77103	2.36	0.80722	D	1	D;P	0.55605	0.972;0.951	P;P	0.58077	0.832;0.707	T	0.27262	-1.0079	9	.	.	.	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	159;85	Q15111;B4DYZ4	PLCL1_HUMAN;.	Y	159;61	ENSP00000402861:D159Y;ENSP00000414138:D61Y	.	D	+	1	0	PLCL1	198656961	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	9.800000	0.99124	2.836000	0.97738	0.655000	0.94253	GAT		PASS	0.443	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		25	74	25	74	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200298113	200298113	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:200298113C>A	ENST00000417098.1	-	3	1110	c.294G>T	c.(292-294)gaG>gaT	p.E98D	SATB2_ENST00000457245.1_Missense_Mutation_p.E98D|SATB2_ENST00000260926.5_Missense_Mutation_p.E98D|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000428695.1_Missense_Mutation_p.E98D	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	98					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.E98D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAGCGCAGTCTCCACCAGCT	0.542																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(292-294)GAG>GAT		SATB homeobox 2							98.0	96.0	96.0					2																	200298113		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200298113C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.294G>T	2.37:g.200298113C>A	ENSP00000401112:p.Glu98Asp					SATB2_uc010fsq.1_Missense_Mutation_p.E98D|SATB2_uc002uuz.1_Missense_Mutation_p.E98D|SATB2_uc002uva.1_Missense_Mutation_p.E98D	p.E98D	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			3	1111	-			98					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.294G>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195107	0.94960	.	.	ENSG00000119042	ENST00000417098;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	L	0.40543	1.245	0.51767	D	0.999931	D;D	0.69078	0.984;0.997	D;D	0.79108	0.935;0.992	T	0.56056	-0.8042	10	0.44086	T	0.13	-19.4162	14.3301	0.66550	0.0:0.9295:0.0:0.0705	.	98;98	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	D	98	ENSP00000401112:E98D;ENSP00000260926:E98D;ENSP00000388581:E98D;ENSP00000405420:E98D	ENSP00000260926:E98D	E	-	3	2	SATB2	200006358	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.953000	0.63624	2.772000	0.95346	0.650000	0.86243	GAG		PASS	0.542	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		28	87	28	87	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207412165	207412165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:207412165C>T	ENST00000264377.3	+	7	1061	c.733C>T	c.(733-735)Cga>Tga	p.R245*	ADAM23_ENST00000374416.1_Nonsense_Mutation_p.R245*|ADAM23_ENST00000374415.3_Nonsense_Mutation_p.R245*	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	245					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R245*(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AAGCACAGGTCGACCACATAT	0.343																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)	3						c.(733-735)CGA>TGA		ADAM metallopeptidase domain 23 preproprotein							87.0	86.0	86.0					2																	207412165		2203	4300	6503	SO:0001587	stop_gained	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207412165C>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.733C>T	2.37:g.207412165C>T	ENSP00000264377:p.Arg245*					ADAM23_uc010ziv.1_RNA	p.R245*	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	7	956	+			245					A2RU59	Nonsense_Mutation	SNP	ENST00000264377.3	37	c.733C>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	36	5.846643	0.97016	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	.	.	.	5.62	5.62	0.85841	.	0.000000	0.41712	D	0.000839	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	15.5144	0.75812	0.0:1.0:0.0:0.0	.	.	.	.	X	245;245;139;245	.	ENSP00000264377:R245X	R	+	1	2	ADAM23	207120410	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.753000	0.47524	2.809000	0.96659	0.655000	0.94253	CGA		PASS	0.343	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		14	61	14	61	---	---	---	---
LANCL1	10314	broad.mit.edu	37	2	211299258	211299258	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:211299258C>A	ENST00000443314.1	-	9	1495	c.1153G>T	c.(1153-1155)Gac>Tac	p.D385Y	LANCL1_ENST00000441020.3_Missense_Mutation_p.D385Y|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.D385Y|LANCL1_ENST00000450366.2_Missense_Mutation_p.D385Y|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.D385Y			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	385					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.D385Y(1)		breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		ACTAGCAGGTCAGCCAGGAAA	0.428																																						uc010zjh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1153-1155)GAC>TAC		lanthionine synthetase C-like protein 1							95.0	96.0	96.0					2																	211299258		2203	4300	6503	SO:0001583	missense	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211299258C>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.1153G>T	2.37:g.211299258C>A	ENSP00000388713:p.Asp385Tyr					LANCL1_uc002ved.2_Missense_Mutation_p.D385Y|LANCL1_uc010fuq.2_Missense_Mutation_p.D385Y	p.D385Y	NM_001136574	NP_001130046	O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	10	1228	-			385						Missense_Mutation	SNP	ENST00000443314.1	37	c.1153G>T	CCDS2392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.234182|5.234182	0.95207|0.95207	.|.	.|.	ENSG00000115365|ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941|ENST00000412863	T;T;T;T;T|.	0.50813|.	0.73;0.73;0.73;0.73;0.73|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88373|.	0.6419|.	H|H	0.95745|0.95745	3.715|3.715	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.90525|.	0.4491|.	10|.	0.87932|.	D|.	0|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	385|.	O43813|.	LANC1_HUMAN|.	Y|L	385|143	ENSP00000388713:D385Y;ENSP00000393323:D385Y;ENSP00000393597:D385Y;ENSP00000233714:D385Y;ENSP00000397646:D385Y|.	ENSP00000233714:D385Y|.	D|X	-|-	1|2	0|2	LANCL1|LANCL1	211007503|211007503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.458000|7.458000	0.80787|0.80787	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|TGA		PASS	0.428	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		20	54	20	54	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211464182	211464182	+	Silent	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:211464182C>G	ENST00000233072.5	+	14	1642	c.1446C>G	c.(1444-1446)gtC>gtG	p.V482V	CPS1_ENST00000451903.2_Silent_p.V31V|CPS1_ENST00000430249.2_Silent_p.V488V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	482					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.V488V(1)|p.V482V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CGGATACTGTCTACTTTCTTC	0.463																																						uc002vee.3																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1444-1446)GTC>GTG		carbamoyl-phosphate synthetase 1 isoform b							154.0	144.0	147.0					2																	211464182		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211464182C>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1446C>G	2.37:g.211464182C>G						CPS1_uc010fur.2_Silent_p.V488V|CPS1_uc010fus.2_Silent_p.V31V	p.V482V	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	14	1578	+			482					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.1446C>G	CCDS2393.1																																																																																				PASS	0.463	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			37	114	37	114	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227662963	227662964	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:227662963_227662964CC>AA	ENST00000305123.5	-	1	1511_1512	c.491_492GG>TT	c.(490-492)tGG>tTT	p.W164F	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	164	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.W164F(1)|p.W164L(1)|p.W164C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGATCACTTGCCAGACCTCTTT	0.604											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.3																			3	Substitution - Missense(3)		lung(3)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(490-492)TGG>TGT|c.(490-492)TGG>TTG		insulin receptor substrate 1																																				SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662963C>A|g.chr2:227662964C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.491_492delinsAA	2.37:g.227662963_227662964delinsAA	ENSP00000304895:p.Trp164Phe		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.W164C|p.W164L	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	544|543	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	164			IRS-type PTB.			Missense_Mutation	SNP	ENST00000305123.5	37	c.492G>T|c.491G>T	CCDS2463.1																																																																																				PASS	0.604	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		45|46	106|110	45	106	---	---	---	---
GPR55	9290	broad.mit.edu	37	2	231775273	231775273	+	Silent	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:231775273G>T	ENST00000392040.1	-	2	597	c.405C>A	c.(403-405)ccC>ccA	p.P135P	GPR55_ENST00000392039.2_Silent_p.P135P|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	135					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.P135P(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGATCTTCCTGGGGGACCGGA	0.542																																						uc002vrg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(403-405)CCC>CCA		G protein-coupled receptor 55							51.0	50.0	51.0					2																	231775273		2203	4300	6503	SO:0001819	synonymous_variant	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775273G>T	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.405C>A	2.37:g.231775273G>T						GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.P135P	p.P135P	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	598	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	135			Cytoplasmic (Potential).		Q8N580	Silent	SNP	ENST00000392040.1	37	c.405C>A	CCDS2480.1																																																																																				PASS	0.542	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		28	62	28	62	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1269674	1269674	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:1269674G>T	ENST00000446702.2	+	4	982	c.355G>T	c.(355-357)Gca>Tca	p.A119S	CNTN6_ENST00000350110.2_Missense_Mutation_p.A119S|CNTN6_ENST00000539053.1_Missense_Mutation_p.A47S			Q9UQ52	CNTN6_HUMAN	contactin 6	119					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A119S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCTCCAATTTGCATGTGAGTT	0.378																																						uc003boz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(355-357)GCA>TCA		contactin 6 precursor							119.0	117.0	118.0					3																	1269674		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1269674G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.355G>T	3.37:g.1269674G>T	ENSP00000407822:p.Ala119Ser					CNTN6_uc010hbo.2_Missense_Mutation_p.A114S|CNTN6_uc011asj.1_Missense_Mutation_p.A47S|CNTN6_uc003bpa.2_Missense_Mutation_p.A119S	p.A119S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	4	622	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	119					Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.355G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069799	0.76301	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.42900	1.06;0.96;1.06	5.38	5.38	0.77491	.	0.226752	0.31188	N	0.008093	T	0.58850	0.2151	L	0.52364	1.645	0.80722	D	1	B;D	0.63880	0.13;0.993	B;D	0.76575	0.081;0.988	T	0.47446	-0.9117	10	0.18276	T	0.48	.	19.483	0.95017	0.0:0.0:1.0:0.0	.	47;119	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	S	119;47;119	ENSP00000407822:A119S;ENSP00000442791:A47S;ENSP00000341882:A119S	ENSP00000341882:A119S	A	+	1	0	CNTN6	1244674	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.050000	0.93843	2.668000	0.90789	0.557000	0.71058	GCA		PASS	0.378	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		10	91	10	91	---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30713591	30713591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:30713591C>T	ENST00000295754.5	+	4	1298	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.Q331*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Q -> HE (in LDS2). {ECO:0000269|PubMed:22113417}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.Q306*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAACATACTCCAGTTCCTGAC	0.522																																						uc003ceo.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(916-918)CAG>TAG		transforming growth factor, beta receptor II							103.0	96.0	99.0					3																	30713591		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713591C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.916C>T	3.37:g.30713591C>T	ENSP00000295754:p.Gln306*					TGFBR2_uc003cen.2_Nonsense_Mutation_p.Q331*	p.Q306*	NM_003242	NP_003233	P37173	TGFR2_HUMAN			4	1298	+			306			Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.916C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	41	8.753146	0.98941	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	5.02	5.02	0.67125	.	0.100713	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	.	.	.	X	306;331;136	.	ENSP00000295754:Q306X	Q	+	1	0	TGFBR2	30688595	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.814000	0.86154	2.317000	0.78254	0.655000	0.94253	CAG		PASS	0.522	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			33	46	33	46	---	---	---	---
CSRNP1	64651	broad.mit.edu	37	3	39184967	39184967	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:39184967G>A	ENST00000273153.5	-	5	1526	c.1349C>T	c.(1348-1350)aCa>aTa	p.T450I	CSRNP1_ENST00000514182.1_Missense_Mutation_p.T450I	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	450					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T450I(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GACGCCTGATGTGAAGCTACA	0.567																																						uc003cjg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1348-1350)ACA>ATA		AXIN1 up-regulated 1							64.0	62.0	63.0					3																	39184967		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39184967G>A	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1349C>T	3.37:g.39184967G>A	ENSP00000273153:p.Thr450Ile					CSRNP1_uc003cjh.2_Missense_Mutation_p.T450I	p.T450I	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN			5	1563	-			450					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.1349C>T	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	0.358	-0.941003	0.02322	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.41400	1.0;1.0	4.52	-0.51	0.11973	.	1.395120	0.04884	N	0.448227	T	0.22437	0.0541	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.14309	-1.0477	10	0.19147	T	0.46	4.7351	3.0142	0.06054	0.3678:0.0:0.3172:0.315	.	450	Q96S65	CSRN1_HUMAN	I	450;450;108	ENSP00000273153:T450I;ENSP00000422532:T450I	ENSP00000273153:T450I	T	-	2	0	CSRNP1	39159971	0.000000	0.05858	0.000000	0.03702	0.234000	0.25298	0.235000	0.17948	-0.002000	0.14469	-0.140000	0.14226	ACA		PASS	0.567	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		33	34	33	34	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868527	97868527	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:97868527C>A	ENST00000437310.1	+	1	358	c.298C>A	c.(298-300)Cag>Aag	p.Q100K	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100K(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCAAGATACAGTTGTTTTC	0.393																																						uc003dsg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(298-300)CAG>AAG		olfactory receptor, family 5, subfamily H,							202.0	209.0	207.0					3																	97868527		2203	4299	6502	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868527C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.298C>A	3.37:g.97868527C>A	ENSP00000401706:p.Gln100Lys						p.Q100K	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	298	+			100			Helical; Name=3; (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.298C>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237609	0.58886	.	.	ENSG00000236032	ENST00000437310	T	0.00462	7.26	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000379	T	0.01421	0.0046	H	0.97491	4.015	0.19300	N	0.999972	P	0.48089	0.905	P	0.49451	0.611	T	0.13926	-1.0491	10	0.72032	D	0.01	.	10.6214	0.45483	0.0:1.0:0.0:0.0	.	100	A6NHG9	O5H14_HUMAN	K	100	ENSP00000401706:Q100K	ENSP00000401706:Q100K	Q	+	1	0	OR5H14	99351217	1.000000	0.71417	0.006000	0.13384	0.041000	0.13682	6.590000	0.74085	1.380000	0.46344	0.195000	0.17529	CAG		PASS	0.393	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			50	378	50	378	---	---	---	---
OR5K1	26339	broad.mit.edu	37	3	98189243	98189243	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:98189243G>A	ENST00000332650.5	+	1	920	c.823G>A	c.(823-825)Gca>Aca	p.A275T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A275T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATACCAGCTGCAATTTTATT	0.323																																						uc003dsm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(823-825)GCA>ACA		olfactory receptor, family 5, subfamily K,							75.0	80.0	78.0					3																	98189243		2139	4271	6410	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189243G>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.823G>A	3.37:g.98189243G>A	ENSP00000373193:p.Ala275Thr						p.A275T	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	823	+			275			Helical; Name=7; (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.823G>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758758	0.49468	.	.	ENSG00000232382	ENST00000332650	T	0.00152	8.66	4.62	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	0.385118	0.18728	N	0.132821	T	0.00210	0.0006	N	0.17872	0.535	0.09310	N	1	P	0.49862	0.929	P	0.56216	0.794	T	0.61461	-0.7058	10	0.62326	D	0.03	-2.7529	11.8039	0.52143	0.0:0.0:0.823:0.177	.	275	Q8NHB7	OR5K1_HUMAN	T	275	ENSP00000373193:A275T	ENSP00000373193:A275T	A	+	1	0	OR5K1	99671933	0.001000	0.12720	0.782000	0.31804	0.660000	0.38997	1.090000	0.30902	1.135000	0.42183	0.609000	0.83330	GCA		PASS	0.323	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			55	87	55	87	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99649846	99649846	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:99649846C>T	ENST00000354552.3	-	2	489	c.19G>A	c.(19-21)Gat>Aat	p.D7N	CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.D7N|FILIP1L_ENST00000398326.2_Missense_Mutation_p.D7N	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	7						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D7N(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CCCTCGGTATCACTGCCTCTG	0.408																																						uc003dtm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(19-21)GAT>AAT		filamin A interacting protein 1-like isoform 1							136.0	120.0	125.0					3																	99649846		1866	4111	5977	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99649846C>T		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.19G>A	3.37:g.99649846C>T	ENSP00000346560:p.Asp7Asn					C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.D7N|uc003dtq.2_5'Flank	p.D7N	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			2	482	-			7					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.19G>A	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	4.636	0.118133	0.08881	.	.	ENSG00000168386	ENST00000354552;ENST00000331335;ENST00000398326	T;T;T	0.17213	2.29;2.29;2.79	5.81	1.01	0.19927	.	0.768134	0.10957	N	0.615345	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42666	-0.9438	10	0.12766	T	0.61	0.126	3.5536	0.07855	0.3556:0.2524:0.0:0.392	.	7;7	Q4L180-2;Q4L180	.;FIL1L_HUMAN	N	7	ENSP00000346560:D7N;ENSP00000327880:D7N;ENSP00000381371:D7N	ENSP00000327880:D7N	D	-	1	0	FILIP1L	101132536	0.047000	0.20315	0.010000	0.14722	0.494000	0.33585	0.790000	0.26900	0.227000	0.20999	0.591000	0.81541	GAT		PASS	0.408	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		27	128	27	128	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100373875	100373875	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:100373875T>A	ENST00000273352.3	+	12	1844	c.1576T>A	c.(1576-1578)Tgc>Agc	p.C526S	GPR128_ENST00000475887.1_Missense_Mutation_p.C231S|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	526					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C526S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAATCCCATGTGCACTGCGAT	0.428																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1576-1578)TGC>AGC		G protein-coupled receptor 128 precursor							230.0	197.0	208.0					3																	100373875		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373875T>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1576T>A	3.37:g.100373875T>A	ENSP00000273352:p.Cys526Ser					GPR128_uc011bhc.1_Missense_Mutation_p.C227S|GPR128_uc003dud.2_Missense_Mutation_p.C49S	p.C526S	NM_032787	NP_116176	Q96K78	GP128_HUMAN			12	1844	+			526			Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1576T>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975072	0.53720	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	D;D	0.82255	-1.59;-1.59	5.59	5.59	0.84812	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	D	0.94082	0.8103	H	0.97516	4.02	0.48632	D	0.99968	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95680	0.8731	10	0.87932	D	0	.	13.1468	0.59467	0.0:0.0:0.0:1.0	.	231;526	E9PHI0;Q96K78	.;GP128_HUMAN	S	526;231	ENSP00000273352:C526S;ENSP00000419788:C231S	ENSP00000273352:C526S	C	+	1	0	GPR128	101856565	1.000000	0.71417	0.899000	0.35326	0.039000	0.13416	5.325000	0.65869	2.121000	0.65114	0.533000	0.62120	TGC		PASS	0.428	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			224	245	224	245	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100570766	100570766	+	Nonsense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:100570766G>C	ENST00000284322.5	-	13	1287	c.1178C>G	c.(1177-1179)tCa>tGa	p.S393*	ABI3BP_ENST00000471714.1_Nonsense_Mutation_p.S442*|ABI3BP_ENST00000495063.1_Nonsense_Mutation_p.S442*	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	393					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.S393*(1)|p.S442*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTAGGGCTTGAGAAAACATC	0.348																																						uc003dun.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1177-1179)TCA>TGA		ABI gene family, member 3 (NESH) binding protein							71.0	72.0	72.0					3																	100570766		1814	4069	5883	SO:0001587	stop_gained	25890					extracellular space		g.chr3:100570766G>C	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1178C>G	3.37:g.100570766G>C	ENSP00000284322:p.Ser393*					ABI3BP_uc003duo.2_Nonsense_Mutation_p.S435*	p.S393*	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			13	1263	-			393					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Nonsense_Mutation	SNP	ENST00000284322.5	37	c.1178C>G	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.70|12.70	2.015688|2.015688	0.35606|0.35606	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|.	.|.	.|.	4.87|4.87	3.97|3.97	0.46021|0.46021	.|.	.|0.497987	.|0.17170	.|N	.|0.184319	T|.	0.54498|.	0.1862|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43523|.	-0.9386|.	4|.	.|0.15499	.|T	.|0.54	-5.5304|-5.5304	13.7043|13.7043	0.62629|0.62629	0.0:0.1544:0.8456:0.0|0.0:0.1544:0.8456:0.0	.|.	.|.	.|.	.|.	E|X	71|442;393;442	.|.	.|ENSP00000284322:S393X	Q|S	-|-	1|2	0|0	ABI3BP|ABI3BP	102053456|102053456	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.166000|0.166000	0.22503|0.22503	3.057000|3.057000	0.49931|0.49931	1.369000|1.369000	0.46134|0.46134	0.650000|0.650000	0.86243|0.86243	CAA|TCA		PASS	0.348	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			3	19	3	19	---	---	---	---
RETNLB	84666	broad.mit.edu	37	3	108475936	108475936	+	Nonsense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:108475936T>A	ENST00000295755.6	-	1	295	c.97A>T	c.(97-99)Aag>Tag	p.K33*	RETNLB_ENST00000482939.1_5'Flank	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	33					cell proliferation (GO:0008283)	extracellular region (GO:0005576)		p.K33*(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						TTGATCTTCTTATCCATAACG	0.512																																						uc003dxh.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(97-99)AAG>TAG		resistin like beta precursor							69.0	60.0	63.0					3																	108475936		2203	4300	6503	SO:0001587	stop_gained	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108475936T>A	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.97A>T	3.37:g.108475936T>A	ENSP00000295755:p.Lys33*						p.K33*	NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN			1	195	-			33					Q14D27	Nonsense_Mutation	SNP	ENST00000295755.6	37	c.97A>T	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.842623	0.71488	.	.	ENSG00000163515	ENST00000295755	.	.	.	4.6	-4.24	0.03777	.	1.230490	0.05826	N	0.616707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.3183	5.3823	0.16197	0.0:0.3709:0.3084:0.3207	.	.	.	.	X	33	.	ENSP00000295755:K33X	K	-	1	0	RETNLB	109958626	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.619000	0.02048	-1.026000	0.03330	0.533000	0.62120	AAG		PASS	0.512	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			7	35	7	35	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108725881	108725881	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:108725881G>T	ENST00000232603.5	-	18	1844	c.1762C>A	c.(1762-1764)Cat>Aat	p.H588N	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3			MORC family CW-type zinc finger 1									p.H588N(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACCTTATGTGCTGAAGTT	0.373																																						uc003dxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(1762-1764)CAT>AAT		MORC family CW-type zinc finger 1							93.0	87.0	89.0					3																	108725881		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108725881G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000232603.5:c.1762C>A	3.37:g.108725881G>T	ENSP00000232603:p.His588Asn					MORC1_uc011bhn.1_Intron	p.H588N	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			18	1849	-			588						Missense_Mutation	SNP	ENST00000232603.5	37	c.1762C>A	CCDS2955.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.610643	0.00835	.	.	ENSG00000114487	ENST00000232603	T	0.05319	3.46	4.04	-3.75	0.04372	.	2.556720	0.01536	N	0.019037	T	0.03348	0.0097	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36432	-0.9748	10	0.17369	T	0.5	1.0257	1.9664	0.03396	0.1557:0.1182:0.4678:0.2583	.	588	Q86VD1	MORC1_HUMAN	N	588	ENSP00000232603:H588N	ENSP00000232603:H588N	H	-	1	0	MORC1	110208571	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.167000	0.03126	-0.778000	0.04566	-3.073000	0.00066	CAT		PASS	0.373	MORC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353843.1			6	58	6	58	---	---	---	---
B4GALT4	8702	broad.mit.edu	37	3	118948774	118948774	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:118948774C>A	ENST00000483209.1	-	3	814	c.173G>T	c.(172-174)gGg>gTg	p.G58V	B4GALT4_ENST00000467604.1_Missense_Mutation_p.G58V|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Missense_Mutation_p.G58V|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000471675.1_Missense_Mutation_p.G11V|B4GALT4_ENST00000393765.2_Missense_Mutation_p.G58V			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	58					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.G58V(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TTTTCCCTTCCCCAAAATGAG	0.453																																						uc003ecg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)GGG>GTG		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						132.0	126.0	128.0					3																	118948774		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118948774C>A	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.173G>T	3.37:g.118948774C>A	ENSP00000420161:p.Gly58Val					B4GALT4_uc003ece.1_Missense_Mutation_p.G58V|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.G58V|B4GALT4_uc003eci.2_Missense_Mutation_p.G58V|B4GALT4_uc011biy.1_Intron	p.G58V	NM_212543	NP_997708	O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	814	-			58			Lumenal (Potential).		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.173G>T	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900116	0.33535	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000471675;ENST00000359213;ENST00000393765;ENST00000475803;ENST00000479150	T;T;T;T;T;T	0.57595	0.78;0.39;0.78;0.78;1.53;0.92	5.16	1.9	0.25705	.	0.890424	0.10147	N	0.710123	T	0.47078	0.1426	M	0.68317	2.08	0.23421	N	0.997712	B	0.24186	0.099	B	0.21360	0.034	T	0.35699	-0.9778	10	0.26408	T	0.33	-4.1368	7.0573	0.25106	0.0:0.5257:0.0:0.4743	.	58	O60513	B4GT4_HUMAN	V	58;58;11;58;58;58;58	ENSP00000420161:G58V;ENSP00000417226:G58V;ENSP00000352144:G58V;ENSP00000377360:G58V;ENSP00000417188:G58V;ENSP00000417958:G58V	ENSP00000352144:G58V	G	-	2	0	B4GALT4	120431464	0.093000	0.21703	0.187000	0.23214	0.156000	0.22039	0.325000	0.19628	0.299000	0.22661	0.491000	0.48974	GGG		PASS	0.453	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		16	73	16	73	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121206414	121206414	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:121206414C>A	ENST00000264233.5	-	16	5492	c.5364G>T	c.(5362-5364)ggG>ggT	p.G1788G		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1788					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.G1923G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATTTCTACTCCCTGGACTTA	0.383								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(5362-5364)GGG>GGT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							98.0	97.0	97.0					3																	121206414		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206414C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5364G>T	3.37:g.121206414C>A						POLQ_uc003eed.2_Silent_p.G960G	p.G1788G	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5493	-			1788					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.5364G>T	CCDS33833.1																																																																																				PASS	0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		26	154	26	154	---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127323596	127323596	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:127323596C>T	ENST00000265056.7	+	3	626	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	128	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.L128L(1)		ovary(3)|skin(2)|stomach(1)	6						TGGCCGGGGCCTGGGCCGCAT	0.667																																						uc003ejp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(382-384)CTG>TTG		minichromosome maintenance complex component 2							14.0	17.0	16.0					3																	127323596		2198	4287	6485	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127323596C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.382C>T	3.37:g.127323596C>T						MCM2_uc011bkm.1_5'UTR|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.L12L	p.L128L	NM_004526	NP_004517	P49736	MCM2_HUMAN			3	439	+			128			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.382C>T	CCDS3043.1																																																																																				PASS	0.667	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			3	19	3	19	---	---	---	---
ACAD11	84129	broad.mit.edu	37	3	132322143	132322143	+	Silent	SNP	C	C	A	rs142478069	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:132322143C>A	ENST00000264990.6	-	13	2522	c.1551G>T	c.(1549-1551)acG>acT	p.T517T	ACAD11_ENST00000355458.3_Silent_p.T517T|ACAD11_ENST00000545291.1_Silent_p.T42T	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	517					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.T517T(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ATTCAATATTCGTGGCATCAC	0.373																																						uc003eov.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1549-1551)ACG>ACT		putative acyl-CoA dehydrogenase							191.0	165.0	174.0					3																	132322143		2203	4300	6503	SO:0001819	synonymous_variant	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132322143C>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1551G>T	3.37:g.132322143C>A						ACAD11_uc011blr.1_Silent_p.T128T	p.T517T	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			13	1931	-			517					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	ENST00000264990.6	37	c.1551G>T	CCDS3074.1																																																																																				PASS	0.373	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		22	130	22	130	---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133339143	133339143	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:133339143T>A	ENST00000260810.5	-	20	3358	c.3227A>T	c.(3226-3228)cAg>cTg	p.Q1076L		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1076					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.Q989L(1)|p.Q1076L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CATTATCTCCTGTAACTGCTT	0.423								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(3226-3228)CAG>CTG	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							190.0	182.0	185.0					3																	133339143		1935	4129	6064	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133339143T>A	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3227A>T	3.37:g.133339143T>A	ENSP00000260810:p.Gln1076Leu					TOPBP1_uc003ept.1_Missense_Mutation_p.Q80L	p.Q1076L	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			20	3359	-			1076					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.3227A>T	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	T	31	5.068848	0.93950	.	.	ENSG00000163781	ENST00000260810	T	0.14766	2.48	6.17	6.17	0.99709	.	0.096169	0.64402	D	0.000001	T	0.36717	0.0977	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.961	T	0.03739	-1.1008	10	0.62326	D	0.03	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	989;1076	A0AV47;Q92547	.;TOPB1_HUMAN	L	1076	ENSP00000260810:Q1076L	ENSP00000260810:Q1076L	Q	-	2	0	TOPBP1	134821833	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CAG		PASS	0.423	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		8	75	8	75	---	---	---	---
TRPC1	7220	broad.mit.edu	37	3	142499767	142499767	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:142499767C>G	ENST00000476941.1	+	6	1342	c.856C>G	c.(856-858)Cta>Gta	p.L286V	TRPC1_ENST00000273482.6_Missense_Mutation_p.L252V	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	286					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.L252V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GGAAGTTATTCTAAACCATAC	0.363																																						uc003evc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(856-858)CTA>GTA		transient receptor potential cation channel,							86.0	85.0	85.0					3																	142499767		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142499767C>G	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.856C>G	3.37:g.142499767C>G	ENSP00000419313:p.Leu286Val					TRPC1_uc003evb.2_Missense_Mutation_p.L252V	p.L286V	NM_003304	NP_003295	P48995	TRPC1_HUMAN			6	992	+			286			Cytoplasmic (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.856C>G	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443459	0.83993	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.60672	0.17;0.17	5.79	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.77864	0.4194	M	0.86268	2.805	0.80722	D	1	P;D	0.89917	0.956;1.0	D;D	0.75020	0.931;0.985	T	0.82212	-0.0569	10	0.87932	D	0	-36.7783	14.7036	0.69171	0.0:0.9309:0.0:0.0691	.	286;252	P48995;P48995-2	TRPC1_HUMAN;.	V	286;252	ENSP00000419313:L286V;ENSP00000273482:L252V	ENSP00000273482:L252V	L	+	1	2	TRPC1	143982457	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.724000	0.54962	1.455000	0.47813	0.655000	0.94253	CTA		PASS	0.363	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		24	84	24	84	---	---	---	---
SIAH2	6478	broad.mit.edu	37	3	150460253	150460253	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:150460253T>C	ENST00000312960.3	-	2	1177	c.650A>G	c.(649-651)gAc>gGc	p.D217G		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	217	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D217G(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CATCACCCAGTCGACAGCCCC	0.507																																						uc003eyi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(649-651)GAC>GGC		seven in absentia homolog 2							113.0	104.0	107.0					3																	150460253		2203	4300	6503	SO:0001583	missense	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460253T>C	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.650A>G	3.37:g.150460253T>C	ENSP00000322457:p.Asp217Gly						p.D217G	NM_005067	NP_005058	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1277	-			217			SBD.		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	c.650A>G	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.947371	0.92593	.	.	ENSG00000181788	ENST00000312960	T	0.25912	1.77	5.67	5.67	0.87782	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.90759	3.145	0.80722	D	1	P	0.43287	0.802	P	0.57846	0.828	T	0.59150	-0.7508	10	0.36615	T	0.2	.	15.9206	0.79562	0.0:0.0:0.0:1.0	.	217	O43255	SIAH2_HUMAN	G	217	ENSP00000322457:D217G	ENSP00000322457:D217G	D	-	2	0	SIAH2	151942943	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	8.024000	0.88770	2.148000	0.66965	0.482000	0.46254	GAC		PASS	0.507	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		8	165	8	165	---	---	---	---
MME	4311	broad.mit.edu	37	3	154884812	154884812	+	Splice_Site	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:154884812T>A	ENST00000460393.1	+	18	1900		c.e18+2		MME_ENST00000360490.2_Splice_Site|MME_ENST00000492661.1_Splice_Site|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Splice_Site|MME_ENST00000462745.1_Splice_Site	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase						angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ATGACAATGGTAAAGTGCAGT	0.398																																						uc010hvr.1																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e18+2		membrane metallo-endopeptidase	Candoxatril(DB00616)						128.0	115.0	120.0					3																	154884812		2203	4300	6503	SO:0001630	splice_region_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154884812T>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1780+2T>A	3.37:g.154884812T>A						MME_uc003fab.1_Splice_Site_p.G594_splice|MME_uc003fac.1_Splice_Site_p.G594_splice|MME_uc003fad.1_Splice_Site_p.G594_splice|MME_uc003fae.1_Splice_Site_p.G594_splice	p.G594_splice	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		18	1991	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)						A8K6U6|D3DNJ9|Q3MIX4	Splice_Site	SNP	ENST00000460393.1	37	c.1780_splice	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546119	0.86022	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MME	156367506	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.930000	0.87610	2.251000	0.74343	0.528000	0.53228	.		PASS	0.398	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	Intron	32	164	32	164	---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158409239	158409239	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:158409239G>T	ENST00000486715.1	+	18	2596	c.2239G>T	c.(2239-2241)Gga>Tga	p.G747*	GFM1_ENST00000264263.5_Nonsense_Mutation_p.G766*|RP11-379F4.7_ENST00000607624.1_lincRNA	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.G747*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGTTAAAAAAGGAAAAGCCAA	0.383																																						uc003fce.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2239-2241)GGA>TGA		G elongation factor, mitochondrial 1 precursor							102.0	105.0	104.0					3																	158409239		2203	4300	6503	SO:0001587	stop_gained	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158409239G>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.2239G>T	3.37:g.158409239G>T	ENSP00000419038:p.Gly747*					GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Nonsense_Mutation_p.G678*	p.G747*	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		18	2346	+			747						Nonsense_Mutation	SNP	ENST00000486715.1	37	c.2239G>T	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	38	6.916176	0.97932	.	.	ENSG00000168827	ENST00000486715;ENST00000264263	.	.	.	5.51	5.51	0.81932	.	0.122926	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-14.4755	19.7818	0.96418	0.0:0.0:1.0:0.0	.	.	.	.	X	747;766	.	ENSP00000264263:G766X	G	+	1	0	GFM1	159891933	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.726000	0.74758	2.736000	0.93811	0.655000	0.94253	GGA		PASS	0.383	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		14	221	14	221	---	---	---	---
IQCJ	654502	broad.mit.edu	37	3	158983042	158983042	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:158983042C>A	ENST00000451172.1	+	5	435	c.330C>A	c.(328-330)atC>atA	p.I110I	IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000482126.1_Silent_p.I83I|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	110								p.I110I(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			ATCCTTACATCTCTTGGAGGT	0.468																																						uc003fcp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(328-330)ATC>ATA		IQ motif containing J isoform CaMBPv1							146.0	145.0	145.0					3																	158983042		1910	4124	6034	SO:0001819	synonymous_variant	654502							g.chr3:158983042C>A	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.330C>A	3.37:g.158983042C>A						SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Silent_p.I83I	p.I110I	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		5	435	+			110					B7ZMM2|B9EH97|Q1A5X5	Silent	SNP	ENST00000451172.1	37	c.330C>A	CCDS46946.1																																																																																				PASS	0.468	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		67	313	67	313	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547376	165547376	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:165547376A>T	ENST00000264381.3	-	2	1612	c.1446T>A	c.(1444-1446)gaT>gaA	p.D482E	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	482					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.D482E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTGTGTAATTATCTCTTCTTT	0.398																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1444-1446)GAT>GAA		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						79.0	84.0	82.0					3																	165547376		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547376A>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1446T>A	3.37:g.165547376A>T	ENSP00000264381:p.Asp482Glu					BCHE_uc003fen.3_Intron	p.D482E	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1606	-			482					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1446T>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	6.922	0.539834	0.13250	.	.	ENSG00000114200	ENST00000264381	D	0.95035	-3.59	5.52	-1.71	0.08133	Carboxylesterase, type B (1);	0.556180	0.18997	N	0.125458	T	0.78717	0.4327	N	0.04320	-0.23	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66284	-0.5962	10	0.05833	T	0.94	.	2.7138	0.05182	0.4127:0.3446:0.1315:0.1111	.	482	P06276	CHLE_HUMAN	E	482	ENSP00000264381:D482E	ENSP00000264381:D482E	D	-	3	2	BCHE	167030070	0.000000	0.05858	0.507000	0.27676	0.829000	0.46940	-0.302000	0.08221	-0.537000	0.06290	0.482000	0.46254	GAT		PASS	0.398	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			42	184	42	184	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173322456	173322457	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:173322456_173322457GG>TT	ENST00000457714.1	+	3	497_498	c.68_69GG>TT	c.(67-69)cGG>cTT	p.R23L	NLGN1_ENST00000361589.4_Missense_Mutation_p.R23L|NLGN1_ENST00000545397.1_Missense_Mutation_p.R23L|NLGN1_ENST00000401917.3_Missense_Mutation_p.R23L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	23					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R23L(2)|p.R23R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGTACACCGGGGATTGGGTG	0.505																																						uc003fio.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(67-69)CGG>CTG|c.(67-69)CGG>CGT		neuroligin 1																																				SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322456G>T|g.chr3:173322457G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	Exception_encountered	3.37:g.173322456_173322457delinsTT	ENSP00000392500:p.Arg23Leu					NLGN1_uc010hww.1_Missense_Mutation_p.R23L|NLGN1_uc003fip.1_Missense_Mutation_p.R23L|NLGN1_uc010hww.1_Silent_p.R23R|NLGN1_uc003fip.1_Silent_p.R23R	p.R23L|p.R23R	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	491|492	+	Ovarian(172;0.0025)		23					Q9UPT2	Missense_Mutation|Silent	SNP	ENST00000457714.1	37	c.68G>T|c.69G>T	CCDS3222.1																																																																																				PASS	0.505	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		89	280|279	89	279	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173525487	173525487	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:173525487G>C	ENST00000457714.1	+	4	940	c.511G>C	c.(511-513)Ggt>Cgt	p.G171R	NLGN1_ENST00000361589.4_Missense_Mutation_p.G171R|NLGN1_ENST00000545397.1_Missense_Mutation_p.G171R|NLGN1_ENST00000401917.3_Missense_Mutation_p.G211R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	188					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.G171R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GGACAGTGGGGGTCCCAAACC	0.398																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(511-513)GGT>CGT		neuroligin 1							156.0	155.0	156.0					3																	173525487		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173525487G>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.511G>C	3.37:g.173525487G>C	ENSP00000392500:p.Gly171Arg					NLGN1_uc010hww.1_Missense_Mutation_p.G211R|NLGN1_uc003fip.1_Missense_Mutation_p.G171R	p.G171R	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	934	+	Ovarian(172;0.0025)		188			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.511G>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781975	0.31502	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71579	0.25;0.25;-0.58;0.25;0.25	5.43	5.43	0.79202	.	0.073683	0.53938	D	0.000050	T	0.63570	0.2522	L	0.35249	1.045	0.49389	D	0.999781	B;B	0.17852	0.024;0.02	B;B	0.24006	0.05;0.008	T	0.56944	-0.7895	10	0.22706	T	0.39	.	19.2403	0.93879	0.0:0.0:1.0:0.0	.	211;171	D2X2H5;Q8N2Q7-2	.;.	R	171;171;211;171;211	ENSP00000392500:G171R;ENSP00000354541:G171R;ENSP00000410374:G211R;ENSP00000441108:G171R;ENSP00000385750:G211R	ENSP00000354541:G171R	G	+	1	0	NLGN1	175008181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.130000	0.77235	2.555000	0.86185	0.557000	0.71058	GGT		PASS	0.398	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		22	223	22	223	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		PASS	0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			23	84	23	84	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180381711	180381711	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:180381711T>A	ENST00000442201.2	-	2	273	c.154A>T	c.(154-156)Att>Ttt	p.I52F	CCDC39_ENST00000273654.4_Missense_Mutation_p.I136F	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	52					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.I52F(1)|p.I136F(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATAGAATTAATTCGCTCTTCA	0.338																																						uc010hxe.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(154-156)ATT>TTT		coiled-coil domain containing 39							162.0	153.0	156.0					3																	180381711		1846	4104	5950	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381711T>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.154A>T	3.37:g.180381711T>A	ENSP00000405708:p.Ile52Phe					CCDC39_uc003fkn.2_RNA	p.I52F	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		2	269	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		52			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.154A>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470470	0.63625	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	T	0.77877	-1.13	6.07	6.07	0.98685	.	0.408189	0.30347	N	0.009829	D	0.87042	0.6079	M	0.77616	2.38	0.51012	D	0.9999	D	0.65815	0.995	D	0.67900	0.954	D	0.87424	0.2384	10	0.49607	T	0.09	-25.4863	14.0082	0.64478	0.0:0.0:0.0:1.0	.	52	Q9UFE4	CCD39_HUMAN	F	136;52;34	ENSP00000418702:I34F	ENSP00000273654:I136F	I	-	1	0	CCDC39	181864405	0.999000	0.42202	1.000000	0.80357	0.390000	0.30446	2.803000	0.47924	2.330000	0.79161	0.477000	0.44152	ATT		PASS	0.338	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		65	124	65	124	---	---	---	---
B3GNT5	84002	broad.mit.edu	37	3	182987916	182987916	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:182987916G>A	ENST00000326505.3	+	2	860	c.330G>A	c.(328-330)acG>acA	p.T110T	B3GNT5_ENST00000460419.1_Silent_p.T110T|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Silent_p.T110T|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	110					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)	p.T110T(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTAGAAGGACGTGGGGCAATG	0.423																																						uc003flk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(328-330)ACG>ACA		UDP-GlcNAc:betaGal							79.0	80.0	80.0					3																	182987916		2203	4300	6503	SO:0001819	synonymous_variant	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182987916G>A	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.330G>A	3.37:g.182987916G>A						MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Silent_p.T110T|B3GNT5_uc003flm.2_Silent_p.T110T	p.T110T	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	860	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		110			Lumenal (Potential).		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Silent	SNP	ENST00000326505.3	37	c.330G>A	CCDS3244.1																																																																																				PASS	0.423	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		9	160	9	160	---	---	---	---
DGKG	1608	broad.mit.edu	37	3	185986661	185986661	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:185986661C>A	ENST00000265022.3	-	12	1584	c.1045G>T	c.(1045-1047)Gac>Tac	p.D349Y	DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.D349Y|DGKG_ENST00000382164.4_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	349					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.D349Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGGCACCGGTCACACTTGACG	0.632																																						uc003fqa.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1045-1047)GAC>TAC		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						90.0	67.0	75.0					3																	185986661		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185986661C>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1045G>T	3.37:g.185986661C>A	ENSP00000265022:p.Asp349Tyr					DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Missense_Mutation_p.D349Y|DGKG_uc011brx.1_Intron	p.D349Y	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	12	1582	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		349			Phorbol-ester/DAG-type 2.		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1045G>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270608	0.80469	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.85411	-1.98;-1.98;-1.98	5.16	5.16	0.70880	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	L	0.39245	1.2	0.80722	D	1	D;D	0.69078	0.961;0.997	P;P	0.61800	0.846;0.894	D	0.89465	0.3739	10	0.72032	D	0.01	.	17.8146	0.88627	0.0:1.0:0.0:0.0	.	349;349	P49619-2;P49619	.;DGKG_HUMAN	Y	349;349;100	ENSP00000265022:D349Y;ENSP00000339777:D349Y;ENSP00000395526:D100Y	ENSP00000265022:D349Y	D	-	1	0	DGKG	187469355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.667000	0.68067	2.590000	0.87494	0.563000	0.77884	GAC		PASS	0.632	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			24	42	24	42	---	---	---	---
HRASLS	57110	broad.mit.edu	37	3	192980981	192980981	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:192980981A>G	ENST00000602513.1	+	3	771	c.362A>G	c.(361-363)cAt>cGt	p.H121R	HRASLS_ENST00000264735.2_Missense_Mutation_p.H226R			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	121					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)	p.H121R(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		AACTGTGAACATTTTGTGACA	0.403																																						uc003fta.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CAT>CGT		HRAS-like suppressor							86.0	89.0	88.0					3																	192980981		2203	4300	6503	SO:0001583	missense	57110							g.chr3:192980981A>G	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.362A>G	3.37:g.192980981A>G	ENSP00000473258:p.His121Arg						p.H121R	NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)	3	767	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		121					D2KX19	Missense_Mutation	SNP	ENST00000602513.1	37	c.362A>G		.	.	.	.	.	.	.	.	.	.	A	18.08	3.544459	0.65198	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.65	5.65	0.86999	NC (1);	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	H	0.95402	3.665	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90699	0.4619	9	0.87932	D	0	-20.1932	15.2098	0.73214	1.0:0.0:0.0:0.0	.	121	Q9HDD0	HRSL1_HUMAN	R	121	.	ENSP00000264735:H121R	H	+	2	0	HRASLS	194463675	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	8.761000	0.91691	2.371000	0.80710	0.533000	0.62120	CAT		PASS	0.403	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				107	60	107	60	---	---	---	---
FAM43A	131583	broad.mit.edu	37	3	194407853	194407853	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr3:194407853A>T	ENST00000329759.4	+	1	1232	c.298A>T	c.(298-300)Agc>Tgc	p.S100C		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	100								p.S100C(1)		breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		CTGGAGCAAGAGCGAGGCGGG	0.682																																						uc003fuj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(298-300)AGC>TGC		hypothetical protein LOC131583							45.0	43.0	44.0					3																	194407853		2203	4299	6502	SO:0001583	missense	131583							g.chr3:194407853A>T	AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.298A>T	3.37:g.194407853A>T	ENSP00000371397:p.Ser100Cys						p.S100C	NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)	1	1232	+	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	100					A3KME2|Q8IXP4|Q8WZ07	Missense_Mutation	SNP	ENST00000329759.4	37	c.298A>T	CCDS33923.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172403	0.78452	.	.	ENSG00000185112	ENST00000329759	T	0.64085	-0.08	5.16	5.16	0.70880	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	L	0.28649	0.875	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69643	-0.5090	10	0.44086	T	0.13	-23.7892	14.1939	0.65656	1.0:0.0:0.0:0.0	.	100	Q8N2R8	FA43A_HUMAN	C	100	ENSP00000371397:S100C	ENSP00000371397:S100C	S	+	1	0	FAM43A	195889142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.039000	0.76544	1.948000	0.56530	0.374000	0.22700	AGC		PASS	0.682	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		17	114	17	114	---	---	---	---
FGFR3	2261	broad.mit.edu	37	4	1808386	1808386	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr4:1808386A>T	ENST00000260795.2	+	15	2246	c.2144A>T	c.(2143-2145)aAg>aTg	p.K715M	FGFR3_ENST00000340107.4_Missense_Mutation_p.K717M|FGFR3_ENST00000440486.2_Missense_Mutation_p.K715M|FGFR3_ENST00000481110.2_Missense_Mutation_p.Q692H|FGFR3_ENST00000352904.1_Missense_Mutation_p.K603M|FGFR3_ENST00000412135.2_Missense_Mutation_p.K603M			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.K717M(1)|p.K715M(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CGCATGGACAAGCCCGCCAAC	0.687		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		2	Substitution - Missense(2)		lung(2)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600						c.(2143-2145)AAG>ATG		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						33.0	36.0	35.0					4																	1808386		2203	4300	6503	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808386A>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2144A>T	4.37:g.1808386A>T	ENSP00000260795:p.Lys715Met					FGFR3_uc003gdu.2_Missense_Mutation_p.K717M|FGFR3_uc003gds.3_Missense_Mutation_p.K603M|FGFR3_uc003gdq.3_Missense_Mutation_p.Q692H	p.K715M	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		16	2400	+		Breast(71;0.212)|all_epithelial(65;0.241)	715			Protein kinase.|Cytoplasmic (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.2144A>T	CCDS3353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.48|15.48	2.847131|2.847131	0.51164|0.51164	.|.	.|.	ENSG00000068078|ENSG00000068078	ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904|ENST00000481110	D;D;D;D;D|T	0.83419|0.80738	-1.72;-1.72;-1.72;-1.72;-1.72|-1.41	4.49|4.49	3.31|3.31	0.37934|0.37934	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	.|0.495069	.|0.21320	.|N	.|0.076483	D|D	0.84588|0.84588	0.5505|0.5505	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	D;D;D|D	0.89917|0.69078	1.0;0.994;1.0|0.997	D;P;D|D	0.79784|0.81914	0.993;0.889;0.993|0.995	D|D	0.83790|0.83790	0.0230|0.0230	9|10	0.87932|0.87932	D|D	0|0	.|.	10.0013|10.0013	0.41931|0.41931	0.9184:0.0:0.0816:0.0|0.9184:0.0:0.0816:0.0	.|.	717;603;715|692	P22607-2;P22607-3;P22607|F8W9L4	.;.;FGFR3_HUMAN|.	M|H	717;715;603;715;603|692	ENSP00000339824:K717M;ENSP00000414914:K715M;ENSP00000412903:K603M;ENSP00000260795:K715M;ENSP00000231803:K603M|ENSP00000420533:Q692H	ENSP00000260795:K715M|ENSP00000420533:Q692H	K|Q	+|+	2|3	0|2	FGFR3|FGFR3	1778184|1778184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.650000|0.650000	0.38633|0.38633	3.416000|3.416000	0.52707|0.52707	0.690000|0.690000	0.31570|0.31570	0.459000|0.459000	0.35465|0.35465	AAG|CAA		PASS	0.687	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		13	39	13	39	---	---	---	---
CRMP1	1400	broad.mit.edu	37	4	5827375	5827375	+	Missense_Mutation	SNP	C	C	G	rs553159869		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr4:5827375C>G	ENST00000397890.2	-	13	1687	c.1473G>C	c.(1471-1473)ttG>ttC	p.L491F	CRMP1_ENST00000324989.7_Missense_Mutation_p.L605F|CRMP1_ENST00000512574.1_Missense_Mutation_p.L489F|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	491					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L605F(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AAACCCCTTGCAATCCAAAAA	0.527																																						uc003gip.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1471-1473)TTG>TTC		collapsin response mediator protein 1 isoform 2							152.0	138.0	143.0					4																	5827375		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5827375C>G	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1473G>C	4.37:g.5827375C>G	ENSP00000380987:p.Leu491Phe					EVC_uc003gim.1_Intron|CRMP1_uc003gin.1_Missense_Mutation_p.L403F|CRMP1_uc003giq.2_Missense_Mutation_p.L491F|CRMP1_uc003gir.2_Missense_Mutation_p.L486F|CRMP1_uc003gis.2_Missense_Mutation_p.L605F	p.L491F	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	14	1574	-			491					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.1473G>C	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397195	0.62177	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.86230	-2.09;-2.05;-2.05	3.92	3.07	0.35406	.	0.221364	0.36444	N	0.002598	D	0.86372	0.5917	M	0.71581	2.175	0.54753	D	0.999982	P;B;B;B	0.44380	0.834;0.122;0.12;0.421	P;B;B;B	0.47891	0.56;0.04;0.059;0.167	T	0.82514	-0.0419	10	0.09843	T	0.71	-19.062	10.9084	0.47094	0.0:0.9075:0.0:0.0925	.	605;489;491;428	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	F	605;491;491;489	ENSP00000321606:L605F;ENSP00000380987:L491F;ENSP00000425742:L489F	ENSP00000321606:L605F	L	-	3	2	CRMP1	5878276	1.000000	0.71417	0.952000	0.39060	0.977000	0.68977	2.292000	0.43549	1.006000	0.39211	0.561000	0.74099	TTG		PASS	0.527	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		19	52	19	52	---	---	---	---
CC2D2A	57545	broad.mit.edu	37	4	15591297	15591297	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr4:15591297G>C	ENST00000503292.1	+	34	4489	c.4309G>C	c.(4309-4311)Gac>Cac	p.D1437H	CC2D2A_ENST00000424120.1_Missense_Mutation_p.D1437H|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1329H|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1437H	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1437					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.D1437H(1)|p.D1329H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AATAGGTCCTGACAATGTAAG	0.303																																						uc010idv.2																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(4309-4311)GAC>CAC		coiled-coil and C2 domain containing 2A isoform							90.0	82.0	84.0					4																	15591297		1825	4072	5897	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15591297G>C	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4309G>C	4.37:g.15591297G>C	ENSP00000421809:p.Asp1437His					CC2D2A_uc003gnx.2_Missense_Mutation_p.D1329H|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	p.D1437H	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			34	4554	+			1437					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.4309G>C	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387569	0.82902	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	D	0.84571	0.0655	10	0.62326	D	0.03	.	19.2493	0.93917	0.0:0.0:1.0:0.0	.	1437;1329	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	H	1437;1437;1329;1329;1437;1329	ENSP00000403465:D1437H;ENSP00000398391:D1437H;ENSP00000421809:D1437H;ENSP00000374303:D1329H	ENSP00000374303:D1329H	D	+	1	0	CC2D2A	15200395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.731000	0.98807	2.542000	0.85734	0.650000	0.86243	GAC		PASS	0.303	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		15	46	15	46	---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42122174	42122174	+	Silent	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr4:42122174A>T	ENST00000502486.1	-	5	1863	c.1284T>A	c.(1282-1284)ctT>ctA	p.L428L	BEND4_ENST00000504360.1_Silent_p.L424L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	428	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.L424L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ATGAGTACTTAAGCTCATCGG	0.478																																						uc003gwn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1282-1284)CTT>CTA		BEN domain containing 4 isoform a							106.0	107.0	107.0					4																	42122174		1941	4136	6077	SO:0001819	synonymous_variant	389206							g.chr4:42122174A>T	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1284T>A	4.37:g.42122174A>T						BEND4_uc003gwm.2_Silent_p.L428L|BEND4_uc011byy.1_Silent_p.L428L	p.L428L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			5	1864	-			428			BEN.		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	c.1284T>A	CCDS47048.1																																																																																				PASS	0.478	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		13	59	13	59	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48622755	48622755	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr4:48622755G>A	ENST00000503238.1	-	3	214	c.215C>T	c.(214-216)cCt>cTt	p.P72L	FRYL_ENST00000537810.1_Missense_Mutation_p.P72L|FRYL_ENST00000507711.1_Missense_Mutation_p.P72L|FRYL_ENST00000358350.4_Missense_Mutation_p.P72L|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.P72L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAGTAAGGAAGGGAGACAGTG	0.413																																						uc003gyh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(214-216)CCT>CTT		furry-like							143.0	132.0	136.0					4																	48622755		1886	4113	5999	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48622755G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.215C>T	4.37:g.48622755G>A	ENSP00000426064:p.Pro72Leu					FRYL_uc003gyk.2_Missense_Mutation_p.P72L|FRYL_uc003gyl.1_Missense_Mutation_p.P123L|FRYL_uc003gym.1_Missense_Mutation_p.P72L	p.P72L	NM_015030	NP_055845	O94915	FRYL_HUMAN			6	820	-			72					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.215C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394198	0.96009	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000505759	T;T;T;T	0.69040	-0.37;-0.37;-0.37;0.84	5.91	5.91	0.95273	.	0.000000	0.64402	U	0.000002	D	0.82481	0.5046	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.991	D;D;P	0.85130	0.997;0.981;0.833	T	0.82508	-0.0422	10	0.66056	D	0.02	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	123;72;72	Q6ZNE6;F2Z2S2;O94915	.;.;FRYL_HUMAN	L	72;72;72;72;164	ENSP00000426064:P72L;ENSP00000351113:P72L;ENSP00000441114:P72L;ENSP00000421584:P72L	ENSP00000351113:P72L	P	-	2	0	FRYL	48317512	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.805000	0.96524	0.460000	0.39030	CCT		PASS	0.413	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			50	106	50	106	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49005803	49005803	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr4:49005803T>C	ENST00000226432.4	+	7	1037	c.854T>C	c.(853-855)gTg>gCg	p.V285A	CWH43_ENST00000513409.1_Missense_Mutation_p.V258A	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	285					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.V285A(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCAGCTGCTGTGTCTGGCTGT	0.502																																						uc003gyv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(853-855)GTG>GCG		cell wall biogenesis 43 C-terminal homolog							94.0	84.0	87.0					4																	49005803		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49005803T>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.854T>C	4.37:g.49005803T>C	ENSP00000226432:p.Val285Ala					CWH43_uc011bzl.1_Missense_Mutation_p.V258A	p.V285A	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			7	1036	+			285			Helical; (Potential).		B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.854T>C	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	T	0.088	-1.172279	0.01646	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.42513	1.57;0.97	3.91	1.51	0.23008	.	0.773936	0.11160	N	0.593203	T	0.31979	0.0814	L	0.45137	1.4	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.24584	-1.0156	9	.	.	.	.	7.5979	0.28058	0.0:0.1639:0.0:0.8361	.	285	Q9H720	PG2IP_HUMAN	A	285;258	ENSP00000226432:V285A;ENSP00000422802:V258A	.	V	+	2	0	CWH43	48700560	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	2.344000	0.44010	0.349000	0.23975	-0.462000	0.05337	GTG		PASS	0.502	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		59	104	59	104	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89397178	89397178	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr4:89397178C>A	ENST00000264350.3	+	12	1732	c.1579C>A	c.(1579-1581)Ctg>Atg	p.L527M	HERC5_ENST00000508159.1_Missense_Mutation_p.L165M	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	527					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L527M(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTCACTGGTTCTGGGTAAGTT	0.383																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(2)	9						c.(1579-1581)CTG>ATG		hect domain and RLD 5							115.0	113.0	114.0					4																	89397178		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89397178C>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1579C>A	4.37:g.89397178C>A	ENSP00000264350:p.Leu527Met					HERC5_uc011cdm.1_Missense_Mutation_p.L165M	p.L527M	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	12	1732	+		Hepatocellular(203;0.114)	527					B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.1579C>A	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109670	0.37242	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.51574	0.7;0.72	4.79	3.92	0.45320	.	0.000000	0.43260	D	0.000595	T	0.65207	0.2669	M	0.73962	2.25	0.19775	N	0.999955	D	0.76494	0.999	D	0.81914	0.995	T	0.57388	-0.7820	10	0.72032	D	0.01	.	10.284	0.43556	0.1972:0.8028:0.0:0.0	.	527	Q9UII4	HERC5_HUMAN	M	527;165	ENSP00000264350:L527M;ENSP00000424129:L165M	ENSP00000264350:L527M	L	+	1	2	HERC5	89616201	0.968000	0.33430	0.629000	0.29254	0.388000	0.30384	1.932000	0.40143	1.331000	0.45412	0.591000	0.81541	CTG		PASS	0.383	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		35	38	35	38	---	---	---	---
RAP1GDS1	5910	broad.mit.edu	37	4	99342483	99342483	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr4:99342483G>T	ENST00000408927.3	+	12	1491	c.1378G>T	c.(1378-1380)Gct>Tct	p.A460S	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A369S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A412S|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A460S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A461S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A411S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	460					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.A460S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAAAGATCATGCTGGTGTGAT	0.433			T	NUP98	T-ALL																																	uc003htx.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1378-1380)GCT>TCT		RAP1, GTP-GDP dissociation stimulator 1 isoform							121.0	121.0	121.0					4																	99342483		2001	4176	6177	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99342483G>T		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1378G>T	4.37:g.99342483G>T	ENSP00000386153:p.Ala460Ser					RAP1GDS1_uc003htw.3_Missense_Mutation_p.A461S|RAP1GDS1_uc003htv.3_Missense_Mutation_p.A460S|RAP1GDS1_uc003htz.3_Missense_Mutation_p.A411S|RAP1GDS1_uc003hty.3_Missense_Mutation_p.A412S|RAP1GDS1_uc003hua.3_Missense_Mutation_p.A369S	p.A460S	NM_001100427	NP_001093897	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	12	1568	+			460					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1378G>T	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356403	0.82243	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.50548	0.74;2.7;0.74;0.74;0.74;0.74	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	L	0.29908	0.895	0.80722	D	1	D;D;D;B;P;P	0.76494	0.999;0.99;0.984;0.272;0.509;0.532	D;D;D;B;B;B	0.73380	0.937;0.98;0.956;0.019;0.064;0.264	T	0.42515	-0.9447	10	0.12103	T	0.63	-9.4631	20.2985	0.98592	0.0:0.0:1.0:0.0	.	369;411;412;460;461;460	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	S	412;369;460;460;411;461	ENSP00000369503:A412S;ENSP00000264572:A369S;ENSP00000386153:A460S;ENSP00000407157:A460S;ENSP00000386223:A411S;ENSP00000340454:A461S	ENSP00000264572:A369S	A	+	1	0	RAP1GDS1	99561506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.793000	0.96121	0.655000	0.94253	GCT		PASS	0.433	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		36	30	36	30	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126355562	126355562	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr4:126355562C>T	ENST00000394329.3	+	7	7194	c.7181C>T	c.(7180-7182)tCa>tTa	p.S2394L	FAT4_ENST00000335110.5_Missense_Mutation_p.S692L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2394	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2394L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGATGCTTCAAAGAATGCA	0.343																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(7180-7182)TCA>TTA		FAT tumor suppressor homolog 4 precursor							167.0	150.0	156.0					4																	126355562		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126355562C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7181C>T	4.37:g.126355562C>T	ENSP00000377862:p.Ser2394Leu					FAT4_uc011cgp.1_Missense_Mutation_p.S692L	p.S2394L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			7	7181	+			2394			Cadherin 23.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7181C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016421	0.35606	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51817	0.69;0.69	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.280580	0.18456	U	0.140671	T	0.35537	0.0935	N	0.14661	0.345	0.34976	D	0.75361	B;B	0.28971	0.196;0.229	B;B	0.33254	0.116;0.16	T	0.51803	-0.8659	10	0.72032	D	0.01	.	14.1691	0.65497	0.0:0.8505:0.1495:0.0	.	692;2394	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	L	2394;692	ENSP00000377862:S2394L;ENSP00000335169:S692L	ENSP00000335169:S692L	S	+	2	0	FAT4	126575012	0.996000	0.38824	0.583000	0.28640	0.342000	0.28953	4.145000	0.58065	2.596000	0.87737	0.655000	0.94253	TCA		PASS	0.343	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		33	56	33	56	---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3599417	3599417	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:3599417C>T	ENST00000302006.3	+	2	407	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	119					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P119S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCTTATTACCCCTACGGCCA	0.652																																						uc003jde.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(355-357)CCC>TCC		iroquois homeobox protein 1							42.0	47.0	46.0					5																	3599417		2203	4299	6502	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599417C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.355C>T	5.37:g.3599417C>T	ENSP00000305244:p.Pro119Ser						p.P119S	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	407	+			119					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.355C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722917	0.89298	.	.	ENSG00000170549	ENST00000302006	T	0.66815	-0.23	4.51	4.51	0.55191	Homeodomain-like (1);	0.112539	0.64402	D	0.000008	T	0.72179	0.3428	L	0.55834	1.745	0.80722	D	1	D	0.55172	0.97	P	0.51945	0.685	T	0.76493	-0.2939	10	0.62326	D	0.03	.	17.2114	0.86931	0.0:1.0:0.0:0.0	.	119	P78414	IRX1_HUMAN	S	119	ENSP00000305244:P119S	ENSP00000305244:P119S	P	+	1	0	IRX1	3652417	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.492000	0.81482	2.173000	0.68751	0.655000	0.94253	CCC		PASS	0.652	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		35	49	35	49	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5146263	5146263	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:5146263T>A	ENST00000274181.7	+	3	334	c.196T>A	c.(196-198)Tac>Aac	p.Y66N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.Y66N|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	66					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y66N(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGTCTCTGCCTACGAGGTTGA	0.478																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(196-198)TAC>AAC		ADAM metallopeptidase with thrombospondin type 1							51.0	49.0	50.0					5																	5146263		1992	4160	6152	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146263T>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.196T>A	5.37:g.5146263T>A	ENSP00000274181:p.Tyr66Asn					ADAMTS16_uc003jdk.1_Missense_Mutation_p.Y66N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.Y66N	p.Y66N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			3	334	+			66					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.196T>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257735	0.80246	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.05649	3.41;3.41	5.55	5.55	0.83447	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000002	T	0.25680	0.0625	M	0.78223	2.4	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.982;0.969	D;D;P	0.87578	0.998;0.929;0.908	T	0.00668	-1.1618	10	0.41790	T	0.15	.	14.9622	0.71164	0.0:0.0:0.0:1.0	.	66;66;66	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	N	66	ENSP00000274181:Y66N;ENSP00000421631:Y66N	ENSP00000274181:Y66N	Y	+	1	0	ADAMTS16	5199263	1.000000	0.71417	0.897000	0.35233	0.952000	0.60782	6.171000	0.71926	2.234000	0.73211	0.460000	0.39030	TAC		PASS	0.478	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		20	81	20	81	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19473489	19473489	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:19473489T>G	ENST00000507958.1	-	15	3209	c.2219A>C	c.(2218-2220)tAt>tCt	p.Y740S	CDH18_ENST00000274170.4_Missense_Mutation_p.Y740S|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.Y740S			Q13634	CAD18_HUMAN	cadherin 18, type 2	740					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)	p.Y740S(2)		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)					CTGACCCTCATAGGCATAAGT	0.488																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(2218-2220)TAT>TCT		cadherin 18, type 2 preproprotein							108.0	106.0	107.0					5																	19473489		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473489T>G	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.2219A>C	5.37:g.19473489T>G	ENSP00000425093:p.Tyr740Ser					CDH18_uc003jgd.2_Missense_Mutation_p.Y740S|CDH18_uc011cnm.1_3'UTR	p.Y740S	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2596	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		740			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2219A>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.381835	0.82792	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.80393	-1.37;-1.37;-1.37	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.90198	3.095	0.58432	D	0.999996	D	0.53151	0.958	P	0.57468	0.821	D	0.91400	0.5142	9	.	.	.	.	15.3525	0.74399	0.0:0.0:0.0:1.0	.	740	Q13634	CAD18_HUMAN	S	740	ENSP00000371710:Y740S;ENSP00000425093:Y740S;ENSP00000274170:Y740S	.	Y	-	2	0	CDH18	19509246	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	6.169000	0.71913	2.307000	0.77673	0.528000	0.53228	TAT		PASS	0.488	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		54	72	54	72	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19483469	19483469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:19483469G>T	ENST00000507958.1	-	14	2813	c.1823C>A	c.(1822-1824)tCg>tAg	p.S608*	CDH18_ENST00000502796.1_Silent_p.R572R|CDH18_ENST00000274170.4_Nonsense_Mutation_p.S608*|CDH18_ENST00000382275.1_Nonsense_Mutation_p.S608*|CDH18_ENST00000506372.1_Silent_p.R573R			Q13634	CAD18_HUMAN	cadherin 18, type 2	608	Cadherin 5. {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)	p.S608*(2)		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)					CAAACCAGCCGAGGACAGGAA	0.517																																						uc003jgc.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1822-1824)TCG>TAG		cadherin 18, type 2 preproprotein							71.0	66.0	68.0					5																	19483469		2203	4300	6503	SO:0001587	stop_gained	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483469G>T	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.1823C>A	5.37:g.19483469G>T	ENSP00000425093:p.Ser608*					CDH18_uc003jgd.2_Nonsense_Mutation_p.S608*|CDH18_uc011cnm.1_Silent_p.R572R	p.S608*	NM_004934	NP_004925	Q13634	CAD18_HUMAN			11	2200	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		608			Extracellular (Potential).|Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Nonsense_Mutation	SNP	ENST00000507958.1	37	c.1823C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	48	14.155358	0.99782	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0513	0.89349	0.0:0.0:1.0:0.0	.	.	.	.	X	608	.	.	S	-	2	0	CDH18	19519226	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.615000	0.88500	0.655000	0.94253	TCG		PASS	0.517	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		36	29	36	29	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21752201	21752201	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:21752201G>A	ENST00000382254.1	-	15	3116	c.2030C>T	c.(2029-2031)gCt>gTt	p.A677V	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.A677V|CDH12_ENST00000522262.1_Missense_Mutation_p.A637V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	677					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)	p.A677V(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTTTCTCAGAGCCCCGATGTC	0.473										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2029-2031)GCT>GTT		cadherin 12, type 2 preproprotein							143.0	125.0	131.0					5																	21752201		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752201G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2030C>T	5.37:g.21752201G>A	ENSP00000371689:p.Ala677Val	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.A637V|CDH12_uc003jgk.2_Missense_Mutation_p.A677V|uc003jgj.2_Intron	p.A677V	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2488	-			677			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2030C>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766290	0.90020	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.78003	-1.14;-1.14;-1.14	5.27	5.27	0.74061	Cadherin, cytoplasmic domain (1);	0.049514	0.85682	D	0.000000	T	0.82181	0.4981	L	0.33245	0.995	0.58432	D	0.999991	P;B	0.45240	0.854;0.409	P;B	0.59012	0.85;0.253	D	0.83901	0.0290	10	0.72032	D	0.01	.	18.8936	0.92414	0.0:0.0:1.0:0.0	.	637;677	B7Z2U6;P55289	.;CAD12_HUMAN	V	677;677;637	ENSP00000423577:A677V;ENSP00000371689:A677V;ENSP00000428786:A637V	ENSP00000371689:A677V	A	-	2	0	CDH12	21787958	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.477000	0.83638	0.467000	0.42956	GCT		PASS	0.473	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		17	141	17	141	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24511481	24511481	+	Silent	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:24511481G>T	ENST00000264463.4	-	6	1464	c.957C>A	c.(955-957)atC>atA	p.I319I		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	319	Cadherin 3. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I319I(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTCAGTCACGATGTCAAACA	0.428										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(955-957)ATC>ATA		cadherin 10, type 2 preproprotein							273.0	218.0	237.0					5																	24511481		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511481G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.957C>A	5.37:g.24511481G>T		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.I319I	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1289	-			319			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.957C>A	CCDS3892.1																																																																																				PASS	0.428	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		56	212	56	212	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24511547	24511547	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:24511547G>T	ENST00000264463.4	-	6	1398	c.891C>A	c.(889-891)gaC>gaA	p.D297E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	297	Cadherin 3. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D297E(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTTCCCAGTGTCAGCATCAG	0.418										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(889-891)GAC>GAA		cadherin 10, type 2 preproprotein							167.0	138.0	148.0					5																	24511547		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511547G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.891C>A	5.37:g.24511547G>T	ENSP00000264463:p.Asp297Glu	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.D297E	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1223	-			297			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.891C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692755	0.68271	.	.	ENSG00000040731	ENST00000264463	T	0.73789	-0.78	5.22	1.43	0.22495	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90710	0.7085	H	0.99659	4.685	0.31968	N	0.607593	D	0.69078	0.997	D	0.69142	0.962	D	0.89337	0.3651	10	0.87932	D	0	.	9.4158	0.38521	0.4419:0.0:0.5581:0.0	.	297	Q9Y6N8	CAD10_HUMAN	E	297	ENSP00000264463:D297E	ENSP00000264463:D297E	D	-	3	2	CDH10	24547304	0.818000	0.29161	0.994000	0.49952	0.992000	0.81027	0.673000	0.25203	-0.027000	0.13873	-0.145000	0.13849	GAC		PASS	0.418	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		27	126	27	126	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886102	26886102	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:26886102G>T	ENST00000231021.4	-	10	1775	c.1603C>A	c.(1603-1605)Ccg>Acg	p.P535T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	535	Cadherin 5. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P535T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGAAATTCGGATTGAGAGTA	0.318																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1603-1605)CCG>ACG		cadherin 9, type 2 preproprotein							66.0	75.0	72.0					5																	26886102		2202	4300	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886102G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1603C>A	5.37:g.26886102G>T	ENSP00000231021:p.Pro535Thr					CDH9_uc011cnv.1_Missense_Mutation_p.P128T	p.P535T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			10	1772	-			535			Extracellular (Potential).|Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1603C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059190	0.76074	.	.	ENSG00000113100	ENST00000231021	T	0.51325	0.71	5.76	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.105582	0.64402	D	0.000004	T	0.61702	0.2368	M	0.68952	2.095	0.58432	D	0.999996	P;P	0.37731	0.607;0.607	P;P	0.51974	0.507;0.686	T	0.60250	-0.7300	9	.	.	.	.	15.3422	0.74306	0.0:0.1404:0.8596:0.0	.	128;535	B4DFP0;Q9ULB4	.;CADH9_HUMAN	T	535	ENSP00000231021:P535T	.	P	-	1	0	CDH9	26921859	1.000000	0.71417	0.833000	0.33012	0.922000	0.55478	6.548000	0.73896	1.406000	0.46857	0.467000	0.42956	CCG		PASS	0.318	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		37	124	37	124	---	---	---	---
PDE8B	8622	broad.mit.edu	37	5	76714083	76714083	+	Silent	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:76714083A>T	ENST00000264917.5	+	18	1986	c.1941A>T	c.(1939-1941)gcA>gcT	p.A647A	PDE8B_ENST00000505283.1_Silent_p.A112A|PDE8B_ENST00000340978.3_Silent_p.A600A|PDE8B_ENST00000333194.4_Silent_p.A592A|PDE8B_ENST00000342343.4_Silent_p.A627A|PDE8B_ENST00000346042.3_Silent_p.A550A	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	647	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A647A(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ATGAGGTGGCAGCCCTCATTG	0.547																																						uc003kfa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1939-1941)GCA>GCT		phosphodiesterase 8B isoform 1							96.0	79.0	84.0					5																	76714083		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76714083A>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1941A>T	5.37:g.76714083A>T						PDE8B_uc003kfb.2_Silent_p.A627A|PDE8B_uc003kfc.2_Silent_p.A592A|PDE8B_uc003kfd.2_Silent_p.A600A|PDE8B_uc003kfe.2_Silent_p.A550A	p.A647A	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	18	1986	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	647			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.1941A>T	CCDS4037.1																																																																																				PASS	0.547	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		20	57	20	57	---	---	---	---
CCNH	902	broad.mit.edu	37	5	86695249	86695249	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:86695249C>T	ENST00000256897.4	-	7	1058	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CCNH_ENST00000508855.1_Silent_p.E204E|CCNH_ENST00000504878.1_Silent_p.E204E	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	278					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)	p.E278E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		AATGACATCGCTCCAACTTCT	0.378								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														uc003kjb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(832-834)GAG>GAA	Direct_reversal_of_damage|NER	cyclin H							234.0	202.0	213.0					5																	86695249		2203	4300	6503	SO:0001819	synonymous_variant	902				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	g.chr5:86695249C>T	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.834G>A	5.37:g.86695249C>T						CCNH_uc003kiy.1_RNA|CCNH_uc003kiz.1_Silent_p.E225E|CCNH_uc003kja.2_Silent_p.E225E	p.E278E	NM_001239	NP_001230	P51946	CCNH_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	7	1066	-		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	278					Q53X72|Q8TBL9	Silent	SNP	ENST00000256897.4	37	c.834G>A	CCDS4064.1																																																																																				PASS	0.378	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		82	143	82	143	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89990346	89990346	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:89990346A>T	ENST00000405460.2	+	33	7869	c.7773A>T	c.(7771-7773)gaA>gaT	p.E2591D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2591	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E2591D(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATACTTCCGAAGATGGCTTAT	0.458																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(7771-7773)GAA>GAT		G protein-coupled receptor 98 precursor							257.0	256.0	257.0					5																	89990346		1968	4165	6133	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89990346A>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7773A>T	5.37:g.89990346A>T	ENSP00000384582:p.Glu2591Asp					GPR98_uc003kjt.2_Missense_Mutation_p.E297D|GPR98_uc003kjv.2_Missense_Mutation_p.E191D	p.E2591D	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7869	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2591			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7773A>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.05|14.05	2.418594|2.418594	0.42918|0.42918	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.27890|.	1.64|.	5.88|5.88	4.75|4.75	0.60458|0.60458	Na-Ca exchanger/integrin-beta4 (1);|.	0.275132|.	0.44097|.	D|.	0.000492|.	T|T	0.59783|0.59783	0.2219|0.2219	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;P|.	0.45474|.	0.117;0.859|.	B;P|.	0.48873|.	0.156;0.593|.	T|T	0.60525|0.60525	-0.7246|-0.7246	10|5	0.45353|.	T|.	0.12|.	.|.	5.4457|5.4457	0.16533|0.16533	0.7619:0.0:0.2381:0.0|0.7619:0.0:0.2381:0.0	.|.	2591;2591|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	D|M	2591|157	ENSP00000384582:E2591D|.	ENSP00000296619:E2591D|.	E|K	+|+	3|2	2|0	GPR98|GPR98	90026102|90026102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.906000|0.906000	0.53458|0.53458	0.593000|0.593000	0.23999|0.23999	2.242000|2.242000	0.73789|0.73789	0.533000|0.533000	0.62120|0.62120	GAA|AAG		PASS	0.458	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		93	147	93	147	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89992782	89992782	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:89992782C>A	ENST00000405460.2	+	34	8070	c.7974C>A	c.(7972-7974)acC>acA	p.T2658T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2658	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T2658T(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCATTTTAACCATCTTGGATG	0.378																																						uc003kju.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(7972-7974)ACC>ACA		G protein-coupled receptor 98 precursor							115.0	103.0	107.0					5																	89992782		1853	4085	5938	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89992782C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7974C>A	5.37:g.89992782C>A						GPR98_uc003kjt.2_Silent_p.T364T|GPR98_uc003kjv.2_Silent_p.T258T	p.T2658T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	34	8070	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2658			Calx-beta 18.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.7974C>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	8.459	0.854799	0.17106	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.92	3.22	0.36961	.	.	.	.	.	T	0.53834	0.1821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44772	-0.9306	4	.	.	.	.	5.2098	0.15310	0.1321:0.5947:0.0:0.2732	.	.	.	.	Q	224	.	.	P	+	2	0	GPR98	90028538	0.266000	0.24112	0.986000	0.45419	0.951000	0.60555	-0.023000	0.12456	0.420000	0.25954	-0.254000	0.11334	CCA		PASS	0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		19	32	19	32	---	---	---	---
ELL2	22936	broad.mit.edu	37	5	95236684	95236684	+	Missense_Mutation	SNP	C	C	A	rs200321718		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:95236684C>A	ENST00000237853.4	-	6	1191	c.842G>T	c.(841-843)cGg>cTg	p.R281L	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	281					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.R281L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CTCCAATGACCGTCTGTCTAT	0.328																																						uc003klr.3																			1	Substitution - Missense(1)	p.R281W(1)	lung(1)	central_nervous_system(1)	1						c.(841-843)CGG>CTG		elongation factor, RNA polymerase II, 2							86.0	92.0	90.0					5																	95236684		2203	4299	6502	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95236684C>A	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.842G>T	5.37:g.95236684C>A	ENSP00000237853:p.Arg281Leu						p.R281L	NM_012081	NP_036213	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	6	1192	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	281					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.842G>T	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614312	0.66672	.	.	ENSG00000118985	ENST00000237853;ENST00000513343	T;T	0.29142	1.58;1.58	5.52	3.45	0.39498	.	0.465613	0.26635	N	0.023292	T	0.18718	0.0449	N	0.24115	0.695	0.80722	D	1	B	0.27286	0.174	B	0.29942	0.109	T	0.08229	-1.0732	10	0.62326	D	0.03	-4.3585	4.2452	0.10669	0.0:0.5022:0.0:0.4978	.	281	O00472	ELL2_HUMAN	L	281;99	ENSP00000237853:R281L;ENSP00000423915:R99L	ENSP00000237853:R281L	R	-	2	0	ELL2	95262440	0.841000	0.29509	0.965000	0.40720	0.844000	0.47949	1.726000	0.38085	1.290000	0.44636	0.561000	0.74099	CGG		PASS	0.328	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		207	144	207	144	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101755709	101755709	+	Silent	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:101755709T>A	ENST00000506729.1	-	8	1464	c.1293A>T	c.(1291-1293)ccA>ccT	p.P431P	SLCO6A1_ENST00000379807.3_Silent_p.P431P|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.P369P|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	431						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P431P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GTGCACCTCCTGGAATTAAAA	0.348																																						uc003knn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1291-1293)CCA>CCT		solute carrier organic anion transporter family,							34.0	38.0	36.0					5																	101755709		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101755709T>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1293A>T	5.37:g.101755709T>A						SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Silent_p.P431P|SLCO6A1_uc003knq.2_Silent_p.P369P	p.P431P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	8	1465	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	431			Helical; Name=8; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.1293A>T	CCDS34206.1																																																																																				PASS	0.348	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		19	29	19	29	---	---	---	---
IL9	3578	broad.mit.edu	37	5	135231428	135231428	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:135231428C>T	ENST00000274520.1	-	1	88	c.78G>A	c.(76-78)ggG>ggA	p.G26G	GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	26					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)		p.G26G(1)		large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCCAGGATCCCCGCCAAGG	0.567																																						uc003lbb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(76-78)GGG>GGA		interleukin 9 precursor							70.0	74.0	72.0					5																	135231428		2203	4300	6503	SO:0001819	synonymous_variant	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135231428C>T	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.78G>A	5.37:g.135231428C>T							p.G26G	NM_000590	NP_000581	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	89	-			26						Silent	SNP	ENST00000274520.1	37	c.78G>A	CCDS4189.1																																																																																				PASS	0.567	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		36	57	36	57	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481630	140481630	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:140481630C>A	ENST00000231130.2	+	1	1397	c.1397C>A	c.(1396-1398)cCc>cAc	p.P466H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P466H(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAACAGCCCCGCCCTGCAC	0.622																																						uc003lio.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1396-1398)CCC>CAC		protocadherin beta 3 precursor							82.0	82.0	82.0					5																	140481630		2203	4296	6499	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481630C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1397C>A	5.37:g.140481630C>A	ENSP00000231130:p.Pro466His					uc003lin.2_Intron	p.P466H	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1397	+			466			Extracellular (Potential).|Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1397C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968371	0.53614	.	.	ENSG00000113205	ENST00000231130	T	0.01745	4.66	4.22	4.22	0.49857	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.11410	0.0278	M	0.90019	3.08	0.33612	D	0.603708	D	0.89917	1.0	D	0.91635	0.999	T	0.03503	-1.1030	9	0.87932	D	0	.	8.3927	0.32537	0.0:0.818:0.0:0.182	.	466	Q9Y5E6	PCDB3_HUMAN	H	466	ENSP00000231130:P466H	ENSP00000231130:P466H	P	+	2	0	PCDHB3	140461814	0.791000	0.28800	1.000000	0.80357	0.997000	0.91878	1.858000	0.39408	2.080000	0.62538	0.558000	0.71614	CCC		PASS	0.622	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		33	75	33	75	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140595824	140595824	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:140595824C>A	ENST00000341948.4	+	1	2316	c.2129C>A	c.(2128-2130)gCg>gAg	p.A710E		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	710					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A710E(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.677																																						uc003lja.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2128-2130)GCG>GAG		protocadherin beta 13 precursor							89.0	98.0	95.0					5																	140595824		2197	4281	6478	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595824C>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2129C>A	5.37:g.140595824C>A	ENSP00000345491:p.Ala710Glu						p.A710E	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2316	+			710			Helical; (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2129C>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	16.98	3.272247	0.59649	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.16196	2.36	3.5	0.4	0.16331	.	.	.	.	.	T	0.28034	0.0691	H	0.96547	3.84	0.09310	N	1	B	0.33318	0.408	B	0.28849	0.095	T	0.33214	-0.9877	9	0.87932	D	0	.	4.5725	0.12217	0.0:0.3787:0.3287:0.2926	.	710	Q9Y5F0	PCDBD_HUMAN	E	710;710;656	ENSP00000345491:A710E	ENSP00000345491:A710E	A	+	2	0	PCDHB13	140576008	0.000000	0.05858	0.073000	0.20177	0.237000	0.25408	-0.813000	0.04491	0.108000	0.17862	0.298000	0.19748	GCG		PASS	0.677	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		82	122	82	122	---	---	---	---
RBM27	54439	broad.mit.edu	37	5	145649043	145649043	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:145649043A>G	ENST00000265271.5	+	17	2753	c.2587A>G	c.(2587-2589)Atg>Gtg	p.M863V	RBM27_ENST00000506502.1_Missense_Mutation_p.M808V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	863					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M863V(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAAATATAATGAAGACTTT	0.299																																						uc003lnz.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)	3						c.(2587-2589)ATG>GTG		RNA binding motif protein 27							68.0	64.0	65.0					5																	145649043		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145649043A>G	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2587A>G	5.37:g.145649043A>G	ENSP00000265271:p.Met863Val					RBM27_uc003lny.2_Missense_Mutation_p.M808V	p.M863V	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2753	+			863			Potential.		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2587A>G	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398217	0.83120	.	.	ENSG00000091009	ENST00000265271	T	0.57107	0.42	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68265	0.2982	M	0.65975	2.015	0.80722	D	1	P	0.40332	0.713	P	0.54815	0.761	T	0.70360	-0.4893	10	0.72032	D	0.01	-13.2556	16.1205	0.81351	1.0:0.0:0.0:0.0	.	863	Q9P2N5	RBM27_HUMAN	V	863	ENSP00000265271:M863V	ENSP00000265271:M863V	M	+	1	0	RBM27	145629236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.205000	0.71048	0.533000	0.62120	ATG		PASS	0.299	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		8	22	8	22	---	---	---	---
JAKMIP2	9832	broad.mit.edu	37	5	147040947	147040947	+	Missense_Mutation	SNP	C	C	G	rs188457757	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:147040947C>G	ENST00000265272.5	-	3	658	c.191G>C	c.(190-192)cGc>cCc	p.R64P	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R22P|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R64P	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	64						Golgi apparatus (GO:0005794)		p.R64P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTGCTTGCGCTGCTCCAG	0.498																																						uc003loq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(190-192)CGC>CCC		janus kinase and microtubule interacting protein							138.0	128.0	131.0					5																	147040947		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147040947C>G	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.191G>C	5.37:g.147040947C>G	ENSP00000265272:p.Arg64Pro					JAKMIP2_uc011dbx.1_Missense_Mutation_p.R22P|JAKMIP2_uc003lor.1_Missense_Mutation_p.R64P|uc003lop.1_3'UTR|JAKMIP2_uc010jgo.1_Missense_Mutation_p.R64P	p.R64P	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	573	-			64			Potential.		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.191G>C	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760091	0.49468	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.35421	1.31;1.31;1.31	4.53	4.53	0.55603	.	0.053264	0.85682	D	0.000000	T	0.23249	0.0562	L	0.29908	0.895	0.43930	D	0.996589	P;P;P;P	0.47604	0.465;0.898;0.898;0.825	B;B;B;B	0.36959	0.113;0.237;0.237;0.237	T	0.02457	-1.1156	10	0.32370	T	0.25	.	11.6841	0.51474	0.0:0.9162:0.0:0.0838	.	22;64;64;64	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	P	64;64;22;64	ENSP00000421398:R64P;ENSP00000265272:R64P;ENSP00000328989:R22P	ENSP00000265272:R64P	R	-	2	0	JAKMIP2	147021140	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.552000	0.67281	2.460000	0.83146	0.462000	0.41574	CGC		PASS	0.498	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		61	116	61	116	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150925635	150925635	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr5:150925635T>C	ENST00000261800.5	-	9	5065	c.5053A>G	c.(5053-5055)Atg>Gtg	p.M1685V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1685	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M1685V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGGGCTCATAGCAGAGACA	0.438																																						uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(5053-5055)ATG>GTG		FAT tumor suppressor 2 precursor							66.0	73.0	71.0					5																	150925635		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925635T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5053A>G	5.37:g.150925635T>C	ENSP00000261800:p.Met1685Val					GM2A_uc011dcs.1_Intron	p.M1685V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5066	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1685			Cadherin 15.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.5053A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	0.335	-0.954078	0.02285	.	.	ENSG00000086570	ENST00000261800	T	0.49432	0.78	5.51	-3.33	0.04958	Cadherin (4);Cadherin-like (1);	1.255070	0.05453	N	0.549755	T	0.16981	0.0408	N	0.01809	-0.71	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.11794	T	0.64	.	4.8538	0.13549	0.314:0.3425:0.0:0.3435	.	1685	Q9NYQ8	FAT2_HUMAN	V	1685	ENSP00000261800:M1685V	ENSP00000261800:M1685V	M	-	1	0	FAT2	150905828	0.000000	0.05858	0.002000	0.10522	0.912000	0.54170	-0.067000	0.11579	-0.430000	0.07318	-0.456000	0.05471	ATG		PASS	0.438	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		34	47	34	47	---	---	---	---
BMP6	654	broad.mit.edu	37	6	7862712	7862712	+	Silent	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:7862712G>C	ENST00000283147.6	+	4	1344	c.1185G>C	c.(1183-1185)gcG>gcC	p.A395A		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	395					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.A395A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					AGGACGTGGCGCGGGTCTCCA	0.577																																						uc003mxu.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(1183-1185)GCG>GCC		bone morphogenetic protein 6 preproprotein							54.0	50.0	51.0					6																	7862712		2203	4300	6503	SO:0001819	synonymous_variant	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7862712G>C	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1185G>C	6.37:g.7862712G>C							p.A395A	NM_001718	NP_001709	P22004	BMP6_HUMAN			4	1363	+	Ovarian(93;0.0721)		395					Q5TCP3	Silent	SNP	ENST00000283147.6	37	c.1185G>C	CCDS4503.1																																																																																				PASS	0.577	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		14	68	14	68	---	---	---	---
PRL	5617	broad.mit.edu	37	6	22292835	22292835	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:22292835C>A	ENST00000306482.1	-	3	762	c.244G>T	c.(244-246)Gcc>Tcc	p.A82S	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	82					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)	p.A82S(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTGTTGATGGCCTTGGTAATG	0.478																																						uc003ndp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)GCC>TCC		prolactin precursor							134.0	111.0	119.0					6																	22292835		2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22292835C>A	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.244G>T	6.37:g.22292835C>A	ENSP00000302150:p.Ala82Ser					PRL_uc003ndo.2_Missense_Mutation_p.A83S|PRL_uc003ndq.2_Missense_Mutation_p.A82S	p.A82S	NM_000948	NP_000939	P01236	PRL_HUMAN			3	763	-	Ovarian(93;0.163)		82					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.244G>T	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.769144	0.31320	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.88201	-2.35	6.07	3.37	0.38596	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.285308	0.40908	D	0.000986	T	0.71888	0.3393	L	0.33339	1.005	0.27395	N	0.955036	B;B	0.18610	0.001;0.029	B;B	0.37943	0.131;0.261	T	0.61628	-0.7024	10	0.18710	T	0.47	0.2192	6.5596	0.22479	0.1263:0.6774:0.0:0.1963	.	82;83	P01236;Q5I0G2	PRL_HUMAN;.	S	82;51	ENSP00000302150:A82S	ENSP00000302150:A82S	A	-	1	0	PRL	22400814	1.000000	0.71417	0.134000	0.22075	0.928000	0.56348	1.481000	0.35476	0.458000	0.26988	0.655000	0.94253	GCC		PASS	0.478	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		20	66	20	66	---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28227784	28227784	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:28227784C>A	ENST00000343684.3	+	1	687	c.635C>A	c.(634-636)aCa>aAa	p.T212K	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	212	Lys-rich.							p.T212K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAGTCTGACACAAATTCTGAC	0.308																																						uc003nkt.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(634-636)ACA>AAA		NFKB activating protein-like							30.0	37.0	35.0					6																	28227784		2182	4297	6479	SO:0001583	missense	222698							g.chr6:28227784C>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.635C>A	6.37:g.28227784C>A	ENSP00000345716:p.Thr212Lys					ZKSCAN4_uc011dlb.1_5'Flank	p.T212K	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	687	+			212			Lys-rich.		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.635C>A	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.520311	0.00967	.	.	ENSG00000189134	ENST00000343684	T	0.12984	2.63	4.42	-7.65	0.01281	.	1.751070	0.02908	N	0.136383	T	0.01800	0.0057	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41161	-0.9524	10	0.05436	T	0.98	2.7619	0.7848	0.01047	0.2091:0.1653:0.3102:0.3154	.	212	Q5M9Q1	NKAPL_HUMAN	K	212	ENSP00000345716:T212K	ENSP00000345716:T212K	T	+	2	0	NKAPL	28335763	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.376000	0.02561	-1.846000	0.01175	-1.093000	0.02169	ACA		PASS	0.308	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			6	61	6	61	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692575	31692575	+	5'Flank	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:31692575T>A	ENST00000375819.2	-	0	0				C6orf25_ENST00000375809.3_Missense_Mutation_p.S198R|C6orf25_ENST00000480039.1_Missense_Mutation_p.V192E|C6orf25_ENST00000375805.2_Missense_Mutation_p.V168E|C6orf25_ENST00000375810.4_Missense_Mutation_p.S198R|DDAH2_ENST00000480913.1_5'Flank	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S198R(1)|p.V192E(1)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						CAGAGGCCAGTAAAGGAGGAA	0.577																																						uc011doc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(574-576)GTA>GAA		G6B protein isoform G6b-B precursor							53.0	49.0	50.0					6																	31692575		2203	4300	6503	SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692575T>A		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692575T>A	Exception_encountered					C6orf25_uc003nwk.2_Missense_Mutation_p.S198R|C6orf25_uc011dod.1_Missense_Mutation_p.V148E|C6orf25_uc011doe.1_Missense_Mutation_p.V168E|C6orf25_uc003nwo.2_Missense_Mutation_p.S154R|C6orf25_uc003nwn.2_Missense_Mutation_p.S198R	p.V192E	NM_138272	NP_612116	O95866	G6B_HUMAN			5	575	+			192			Cytoplasmic (Potential).		Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.575T>A	CCDS4714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.779|1.779	-0.482369|-0.482369	0.04383|0.04383	.|.	.|.	ENSG00000204420|ENSG00000204420	ENST00000375810;ENST00000375809;ENST00000375804|ENST00000480039;ENST00000375805;ENST00000375814;ENST00000375806	T;T|T;T;T;T	0.40476|0.48201	1.03;1.03|0.82;0.82;0.82;0.82	4.98|4.98	-1.7|-1.7	0.08159|0.08159	.|.	.|1.964900	.|0.02525	.|N	.|0.092975	T|T	0.14570|0.14570	0.0352|0.0352	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B;B|B;B;B	0.11235|0.12013	0.004;0.004;0.004|0.005;0.005;0.005	B;B;B|B;B;B	0.12156|0.10450	0.007;0.007;0.007|0.005;0.005;0.005	T|T	0.29610|0.29610	-1.0006|-1.0006	9|10	0.09084|0.87932	T|D	0.74|0	0.0592|0.0592	4.1977|4.1977	0.10452|0.10452	0.1729:0.4064:0.0:0.4208|0.1729:0.4064:0.0:0.4208	.|.	154;198;198|168;148;192	O95866-4;O95866-7;B0V023|O95866-3;O95866-5;O95866	.;.;.|.;.;G6B_HUMAN	R|E	198;198;154|192;168;148;192	ENSP00000364968:S198R;ENSP00000364967:S198R|ENSP00000419306:V192E;ENSP00000364963:V168E;ENSP00000364972:V148E;ENSP00000364964:V192E	ENSP00000364962:S154R|ENSP00000364963:V168E	S|V	+|+	3|2	2|0	C6orf25|C6orf25	31800554|31800554	0.002000|0.002000	0.14202|0.14202	0.003000|0.003000	0.11579|0.11579	0.070000|0.070000	0.16714|0.16714	-0.165000|-0.165000	0.09968|0.09968	-0.163000|-0.163000	0.10946|0.10946	0.482000|0.482000	0.46254|0.46254	AGT|GTA		PASS	0.577	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			23	59	23	59	---	---	---	---
C2	717	broad.mit.edu	37	6	31895807	31895807	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:31895807G>T	ENST00000299367.5	+	2	398	c.122G>T	c.(121-123)tGg>tTg	p.W41L	CFB_ENST00000477310.1_Missense_Mutation_p.W41L|CFB_ENST00000556679.1_Missense_Mutation_p.W41L|C2_ENST00000442278.2_Intron|CFB_ENST00000456570.1_Missense_Mutation_p.W41L|C2_ENST00000452323.2_Intron|C2_ENST00000418949.2_Missense_Mutation_p.W41L|C2_ENST00000469372.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	41	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.W41L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGCCATGGCTGGGCTCCTGGG	0.632																																						uc011dor.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(121-123)TGG>TTG		complement factor B preproprotein							45.0	47.0	46.0					6																	31895807		2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31895807G>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.122G>T	6.37:g.31895807G>T	ENSP00000299367:p.Trp41Leu					C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.W41L|C2_uc003nyf.2_Missense_Mutation_p.W41L|C2_uc010jtk.2_Intron|C2_uc011doq.1_Missense_Mutation_p.G3W|C2_uc003nyg.2_Intron	p.W41L	NM_001710	NP_001701	P00751	CFAB_HUMAN			2	386	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.122G>T	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832586	0.50845	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000447952;ENST00000418949;ENST00000556679;ENST00000456570;ENST00000477310	T;T;T;T;T;T;T	0.43688	1.13;0.94;1.13;0.94;1.13;1.13;0.94	5.08	5.08	0.68730	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.34959	N	0.003560	T	0.29190	0.0726	.	.	.	0.32534	N	0.534547	D;B;D	0.76494	0.99;0.005;0.999	P;B;P	0.60068	0.868;0.008;0.86	T	0.03354	-1.1045	9	0.07482	T	0.82	-9.6002	11.6564	0.51320	0.0:0.1787:0.8213:0.0	.	41;41;41	B4E1Z4;P06681;Q8N6L6	.;CO2_HUMAN;.	L	41	ENSP00000403325:W41L;ENSP00000299367:W41L;ENSP00000391354:W41L;ENSP00000406190:W41L;ENSP00000451848:W41L;ENSP00000410815:W41L;ENSP00000418996:W41L	ENSP00000299367:W41L	W	+	2	0	CFB;C2;XXbac-BPG116M5.17	32003786	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.232000	0.43018	2.633000	0.89246	0.655000	0.94253	TGG		PASS	0.632	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			17	28	17	28	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39881519	39881519	+	Splice_Site	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:39881519T>A	ENST00000340692.5	-	5	647	c.644A>T	c.(643-645)aAg>aTg	p.K215M	MOCS1_ENST00000308559.7_Splice_Site_p.K215M|MOCS1_ENST00000373188.2_Splice_Site_p.K215M|MOCS1_ENST00000373186.4_Splice_Site_p.K215M|MOCS1_ENST00000425303.2_Splice_Site_p.K215M|MOCS1_ENST00000373195.3_Splice_Site_p.K128M|MOCS1_ENST00000373175.4_Splice_Site_p.K186M|MOCS1_ENST00000432280.2_Splice_Site_p.K186M			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	215	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.K215M(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGGCCTCACCTTCACAGGGTT	0.617																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	uc003opb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)|central_nervous_system(1)	3						c.(643-645)AAG>ATG		molybdenum cofactor synthesis-step 1 protein							141.0	113.0	123.0					6																	39881519		2203	4300	6503	SO:0001630	splice_region_variant	4337				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39881519T>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.645+1A>T	6.37:g.39881519T>A						MOCS1_uc003opa.2_Missense_Mutation_p.K215M|MOCS1_uc003opc.2_Missense_Mutation_p.K215M|MOCS1_uc003opd.2_Missense_Mutation_p.K215M|MOCS1_uc003ope.2_Missense_Mutation_p.K128M	p.K215M	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN			4	782	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		215			Molybdenum cofactor biosynthesis protein A.	GTP (By similarity).	B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.644A>T		.	.	.	.	.	.	.	.	.	.	T	22.9	4.356201	0.82243	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.84	4.84	0.62591	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	H	0.99675	4.695	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88849	0.3318	9	.	.	.	-28.868	14.1032	0.65070	0.0:0.0:0.0:1.0	.	215;215;215;215;215	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	M	215;215;186;215;128;215;215;186	ENSP00000362282:K215M;ENSP00000309843:K215M;ENSP00000362270:K186M;ENSP00000362284:K215M;ENSP00000362291:K128M;ENSP00000344794:K215M;ENSP00000416478:K215M;ENSP00000410809:K186M	.	K	-	2	0	MOCS1	39989497	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.817000	0.86213	1.823000	0.53134	0.533000	0.62120	AAG		PASS	0.617	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943	Missense_Mutation	30	46	30	46	---	---	---	---
NFYA	4800	broad.mit.edu	37	6	41057378	41057378	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:41057378G>A	ENST00000341376.6	+	5	571	c.370G>A	c.(370-372)Ggc>Agc	p.G124S	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Missense_Mutation_p.G95S	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	124	Gln-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G124S(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGGTGCAGGGCCAGCAGGG	0.542																																						uc003opo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GGC>AGC		nuclear transcription factor Y, alpha isoform 1							65.0	65.0	65.0					6																	41057378		2203	4300	6503	SO:0001583	missense	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41057378G>A		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.370G>A	6.37:g.41057378G>A	ENSP00000345702:p.Gly124Ser					NFYA_uc003opp.2_Missense_Mutation_p.G95S|NFYA_uc003opq.2_Missense_Mutation_p.G95S	p.G124S	NM_002505	NP_002496	P23511	NFYA_HUMAN			5	548	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		124			Gln-rich.		Q8IXU0	Missense_Mutation	SNP	ENST00000341376.6	37	c.370G>A	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232688	0.79688	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.96	5.96	0.96718	.	0.045326	0.85682	D	0.000000	T	0.44871	0.1314	L	0.44542	1.39	0.58432	D	0.999998	B;B	0.33266	0.404;0.282	B;B	0.32724	0.046;0.151	T	0.39143	-0.9628	9	0.25751	T	0.34	-9.9121	19.4074	0.94653	0.0:0.0:1.0:0.0	.	95;124	P23511-2;P23511	.;NFYA_HUMAN	S	124;95	.	ENSP00000345702:G124S	G	+	1	0	NFYA	41165356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.637000	0.98443	2.831000	0.97527	0.650000	0.86243	GGC		PASS	0.542	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			31	89	31	89	---	---	---	---
PTK7	5754	broad.mit.edu	37	6	43111279	43111279	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:43111279C>T	ENST00000230419.4	+	14	2393	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	PTK7_ENST00000352931.2_Silent_p.F668F|PTK7_ENST00000481273.1_Silent_p.F732F|PTK7_ENST00000345201.2_Silent_p.F684F|PTK7_ENST00000349241.2_Silent_p.F594F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	724					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F724F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCCTCATGTTCTACTGCAAGA	0.632											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003oub.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2170-2172)TTC>TTT		PTK7 protein tyrosine kinase 7 isoform a							62.0	59.0	60.0					6																	43111279		2203	4300	6503	SO:0001819	synonymous_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43111279C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2172C>T	6.37:g.43111279C>T			OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_uc003ouc.1_Silent_p.F668F|PTK7_uc003oud.1_Silent_p.F684F|PTK7_uc003oue.1_Silent_p.F594F|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.F732F|PTK7_uc010jyj.1_Intron	p.F724F	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		14	2370	+			724			Helical; (Potential).		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.2172C>T	CCDS4884.1																																																																																				PASS	0.632	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			36	91	36	91	---	---	---	---
CENPQ	55166	broad.mit.edu	37	6	49439895	49439895	+	Splice_Site	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:49439895A>T	ENST00000335783.3	+	4	371	c.277A>T	c.(277-279)Atg>Ttg	p.M93L		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	93					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.M93L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					ATCAGTAATAATGTGAGTATA	0.343																																						uc003ozh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(277-279)ATG>TTG		centromere protein Q							132.0	130.0	131.0					6																	49439895		2203	4300	6503	SO:0001630	splice_region_variant	55166				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr6:49439895A>T	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.278+1A>T	6.37:g.49439895A>T							p.M93L	NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN			4	366	+	Lung NSC(77;0.0128)		93					A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	ENST00000335783.3	37	c.277A>T	CCDS4925.1	.	.	.	.	.	.	.	.	.	.	A	2.906	-0.226330	0.06022	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.18810	2.19	5.0	-3.73	0.04398	.	0.282570	0.34603	N	0.003823	T	0.00845	0.0028	N	0.00926	-1.1	0.19300	N	0.999976	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	10	0.02654	T	1	-2.6445	1.7737	0.03017	0.2215:0.2536:0.0827:0.4422	.	93	Q7L2Z9	CENPQ_HUMAN	L	93	ENSP00000337289:M93L	ENSP00000337289:M93L	M	+	1	0	CENPQ	49547854	0.986000	0.35501	0.667000	0.29798	0.857000	0.48899	0.319000	0.19522	-0.285000	0.09089	0.472000	0.43445	ATG		PASS	0.343	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132	Missense_Mutation	16	78	16	78	---	---	---	---
HMGCLL1	54511	broad.mit.edu	37	6	55441932	55441932	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:55441932G>T	ENST00000398661.2	-	2	273	c.142C>A	c.(142-144)Ccc>Acc	p.P48T	HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000274901.4_Intron|HMGCLL1_ENST00000358072.5_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	48					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.P48T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			gagacatcgggctgaaagcag	0.453																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(142-144)CCC>ACC		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							44.0	47.0	46.0					6																	55441932		1914	4137	6051	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55441932G>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.142C>A	6.37:g.55441932G>T	ENSP00000381654:p.Pro48Thr					HMGCLL1_uc003pco.2_Intron|HMGCLL1_uc010jzx.2_Intron|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron	p.P48T	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	301	-	Lung NSC(77;0.0875)		48					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.142C>A	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	8.420	0.846149	0.16963	.	.	ENSG00000146151	ENST00000398661	D	0.97870	-4.58	3.03	-2.04	0.07343	.	.	.	.	.	T	0.82144	0.4973	N	0.08118	0	0.09310	N	0.999995	B	0.16603	0.018	B	0.17098	0.017	T	0.78186	-0.2302	9	0.21014	T	0.42	.	4.0781	0.09914	0.4797:0.1873:0.333:0.0	.	48	Q8TB92	HMGC2_HUMAN	T	48	ENSP00000381654:P48T	ENSP00000381654:P48T	P	-	1	0	HMGCLL1	55549891	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.491000	0.06474	-0.567000	0.06046	0.655000	0.94253	CCC		PASS	0.453	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		8	14	8	14	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69703705	69703705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:69703705G>T	ENST00000370598.1	+	11	2601	c.1780G>T	c.(1780-1782)Gga>Tga	p.G594*		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	594					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G594*(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGCAGGTGATGGAATGTCCCA	0.433																																						uc003pev.3																			1	Substitution - Nonsense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1780-1782)GGA>TGA		brain-specific angiogenesis inhibitor 3							211.0	223.0	219.0					6																	69703705		2203	4300	6503	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703705G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1780G>T	6.37:g.69703705G>T	ENSP00000359630:p.Gly594*					BAI3_uc010kak.2_Nonsense_Mutation_p.G594*	p.G594*	NM_001704	NP_001695	O60242	BAI3_HUMAN			11	2228	+		all_lung(197;0.212)	594			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.1780G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	48	14.150071	0.99782	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.85	5.85	0.93711	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	.	.	.	X	594	.	ENSP00000359630:G594X	G	+	1	0	BAI3	69760426	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.837000	0.99465	2.772000	0.95346	0.650000	0.86243	GGA		PASS	0.433	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			79	252	79	252	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76751710	76751710	+	Silent	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:76751710T>A	ENST00000369950.3	-	2	390	c.201A>T	c.(199-201)cgA>cgT	p.R67R	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.R67R(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATCTTTTTGTTCGATGCTTTG	0.368																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(199-201)CGA>CGT		interphotoreceptor matrix proteoglycan 1							158.0	151.0	153.0					6																	76751710		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751710T>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.201A>T	6.37:g.76751710T>A							p.R67R	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			2	331	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	67						Silent	SNP	ENST00000369950.3	37	c.201A>T	CCDS4985.1																																																																																				PASS	0.368	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		52	140	52	140	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90425430	90425430	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:90425430T>A	ENST00000369393.3	-	45	6917	c.6802A>T	c.(6802-6804)Agt>Tgt	p.S2268C	MDN1_ENST00000428876.1_Missense_Mutation_p.S2268C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2268					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S2268C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTCTCTCACTAATAGTGAGG	0.458																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(6802-6804)AGT>TGT		MDN1, midasin homolog							179.0	157.0	164.0					6																	90425430		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90425430T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6802A>T	6.37:g.90425430T>A	ENSP00000358400:p.Ser2268Cys						p.S2268C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	45	6918	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2268					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6802A>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219188	0.58560	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.41065	1.01;1.01	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.237081	0.49305	D	0.000153	T	0.61527	0.2354	M	0.87456	2.885	0.41431	D	0.98786	D	0.62365	0.991	D	0.64506	0.926	T	0.69774	-0.5054	10	0.66056	D	0.02	.	15.9209	0.79570	0.0:0.0:0.0:1.0	.	2268	Q9NU22	MDN1_HUMAN	C	2268	ENSP00000358400:S2268C;ENSP00000413970:S2268C	ENSP00000358400:S2268C	S	-	1	0	MDN1	90482151	1.000000	0.71417	0.961000	0.40146	0.975000	0.68041	6.042000	0.70996	2.210000	0.71456	0.533000	0.62120	AGT		PASS	0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			57	141	57	141	---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110777877	110777877	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:110777877G>T	ENST00000368919.3	-	2	463	c.397C>A	c.(397-399)Cag>Aag	p.Q133K	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.Q133K|SLC22A16_ENST00000456137.2_Missense_Mutation_p.Q133K|SLC22A16_ENST00000330550.4_Missense_Mutation_p.Q99K	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	133					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.Q133K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CATGTGTTCTGGTCATATATG	0.468																																						uc003puf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(397-399)CAG>AAG		solute carrier family 22, member 16							163.0	147.0	153.0					6																	110777877		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110777877G>T		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.397C>A	6.37:g.110777877G>T	ENSP00000357915:p.Gln133Lys					SLC22A16_uc003pue.2_Missense_Mutation_p.Q114K|SLC22A16_uc003pug.2_Missense_Mutation_p.Q133K	p.Q133K	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	464	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	133					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.397C>A	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758287	0.15846	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	4.69	2.81	0.32909	Major facilitator superfamily domain (1);	1.176820	0.06301	N	0.700981	T	0.29749	0.0743	N	0.10618	0.005	0.25427	N	0.988213	B;B	0.12630	0.006;0.001	B;B	0.08055	0.003;0.002	T	0.17745	-1.0359	10	0.12430	T	0.62	.	3.4336	0.07437	0.0889:0.1318:0.4666:0.3126	.	133;99	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	K	133;50;99;133;90;133;90	ENSP00000357915:Q133K;ENSP00000395642:Q50K;ENSP00000328583:Q99K;ENSP00000408799:Q133K;ENSP00000416310:Q90K;ENSP00000402111:Q133K;ENSP00000401007:Q90K	ENSP00000328583:Q99K	Q	-	1	0	SLC22A16	110884570	0.995000	0.38212	0.061000	0.19648	0.745000	0.42441	2.174000	0.42482	0.336000	0.23639	0.563000	0.77884	CAG		PASS	0.468	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		41	108	41	108	---	---	---	---
GPRC6A	222545	broad.mit.edu	37	6	117150012	117150012	+	Silent	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:117150012G>T	ENST00000310357.3	-	1	186	c.165C>A	c.(163-165)ccC>ccA	p.P55P	GPRC6A_ENST00000368549.3_Silent_p.P55P|GPRC6A_ENST00000530250.1_Silent_p.P55P	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	55					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P55P(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTGGTCGTCTGGGAGAGTCTT	0.413																																						uc003pxj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(163-165)CCC>CCA		G protein-coupled receptor, family C, group 6,							86.0	85.0	85.0					6																	117150012		2203	4300	6503	SO:0001819	synonymous_variant	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117150012G>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.165C>A	6.37:g.117150012G>T						GPRC6A_uc003pxk.1_Silent_p.P55P|GPRC6A_uc003pxl.1_Silent_p.P55P	p.P55P	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	1	187	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	55			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	c.165C>A	CCDS5112.1																																																																																				PASS	0.413	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			30	80	30	80	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117631248	117631248	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:117631248C>T	ENST00000368508.3	-	40	6628	c.6430G>A	c.(6430-6432)Gta>Ata	p.V2144I	ROS1_ENST00000368507.3_Missense_Mutation_p.V2138I	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V2144I(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTTACCATACATCAGATTGA	0.388			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(6430-6432)GTA>ATA		proto-oncogene c-ros-1 protein precursor							117.0	120.0	119.0					6																	117631248		2203	4299	6502	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117631248C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6430G>A	6.37:g.117631248C>T	ENSP00000357494:p.Val2144Ile					ROS1_uc011ebi.1_RNA	p.V2144I	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	40	6629	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2144			Protein kinase.|Cytoplasmic (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6430G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	c	23.1	4.374963	0.82573	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.87256	-2.23;-2.23	5.55	4.66	0.58398	.	0.000000	0.56097	D	0.000025	D	0.88973	0.6583	L	0.49350	1.555	0.43913	D	0.996554	P	0.43287	0.802	P	0.60068	0.868	D	0.89500	0.3763	10	0.72032	D	0.01	.	14.4249	0.67207	0.0:0.9251:0.0:0.0749	.	2144	P08922	ROS1_HUMAN	I	2144;2138	ENSP00000357494:V2144I;ENSP00000357493:V2138I	ENSP00000357493:V2138I	V	-	1	0	ROS1	117737941	0.953000	0.32496	1.000000	0.80357	0.905000	0.53344	2.122000	0.41987	2.766000	0.95052	0.655000	0.94253	GTA		PASS	0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			53	165	53	165	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599627	136599627	+	Missense_Mutation	SNP	C	C	G	rs149799182		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:136599627C>G	ENST00000531224.1	-	4	644	c.392G>C	c.(391-393)cGg>cCg	p.R131P	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R129P|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R131P|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R129P|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R129P|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R131P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	131					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R131P(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTATATGACCGGCGAGATCT	0.448																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)CGG>CCG		BCL2-associated transcription factor 1 isoform							189.0	202.0	198.0					6																	136599627		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599627C>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.392G>C	6.37:g.136599627C>G	ENSP00000435210:p.Arg131Pro					BCLAF1_uc003qgw.1_Missense_Mutation_p.R131P|BCLAF1_uc003qgy.1_Missense_Mutation_p.R129P|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R129P	p.R131P	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	645	-	Colorectal(23;0.24)		131					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.392G>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190648	0.38707	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55	5.64	5.64	0.86602	.	0.213045	0.33346	N	0.005007	T	0.08537	0.0212	N	0.04636	-0.2	0.45490	D	0.998451	D;D;D;D	0.71674	0.995;0.998;0.995;0.995	P;P;P;P	0.61397	0.81;0.888;0.81;0.81	T	0.35699	-0.9778	10	0.48119	T	0.1	-4.8627	12.9743	0.58529	0.0:0.9259:0.0:0.074	.	129;129;131;131	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	P	131;129;131;131;129;129;131	ENSP00000435210:R131P;ENSP00000229446:R129P;ENSP00000435441:R131P;ENSP00000436501:R131P;ENSP00000434826:R129P;ENSP00000376159:R129P;ENSP00000431734:R131P	ENSP00000229446:R129P	R	-	2	0	BCLAF1	136641320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.673000	0.54591	2.660000	0.90430	0.557000	0.71058	CGG		PASS	0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		38	287	38	287	---	---	---	---
ULBP1	80329	broad.mit.edu	37	6	150291168	150291168	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:150291168C>T	ENST00000229708.3	+	4	685	c.642C>T	c.(640-642)gcC>gcT	p.A214A		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	214					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.A214A(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CCTCTCTGGCCCCAGGCACAA	0.562																																						uc003qnp.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(640-642)GCC>GCT		UL16 binding protein 1 precursor							122.0	100.0	107.0					6																	150291168		2203	4300	6503	SO:0001819	synonymous_variant	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150291168C>T	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.642C>T	6.37:g.150291168C>T							p.A214A	NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	4	685	+		Ovarian(120;0.0907)	214					Q5VY81|Q8IZW3|Q8IZX6	Silent	SNP	ENST00000229708.3	37	c.642C>T	CCDS5223.1																																																																																				PASS	0.562	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			3	29	3	29	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152712636	152712636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:152712636C>A	ENST00000367255.5	-	52	8381	c.7780G>T	c.(7780-7782)Gag>Tag	p.E2594*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E2633*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E2601*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E2601*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E2594*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2594					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E2594*(2)|p.E2601*(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCGGCCCTCCTGCCCAGCA	0.502										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Nonsense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(7780-7782)GAG>TAG		spectrin repeat containing, nuclear envelope 1							48.0	50.0	49.0					6																	152712636		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152712636C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7780G>T	6.37:g.152712636C>A	ENSP00000356224:p.Glu2594*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.E2601*|SYNE1_uc003qou.3_Nonsense_Mutation_p.E2594*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.E2577*	p.E2594*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	52	8382	-		Ovarian(120;0.0955)	2594			Cytoplasmic (Potential).|Spectrin 5.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.7780G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	52	19.937013	0.99925	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.79	5.79	0.91817	.	0.100930	0.43416	D	0.000580	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	.	.	.	X	2594;2601;2594;2601;2633	.	ENSP00000265368:E2594X	E	-	1	0	SYNE1	152754329	1.000000	0.71417	0.052000	0.19188	0.934000	0.57294	7.440000	0.80464	2.733000	0.93635	0.655000	0.94253	GAG		PASS	0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	74	17	74	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160526034	160526034	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:160526034G>C	ENST00000356956.1	+	48	7542	c.7394G>C	c.(7393-7395)aGc>aCc	p.S2465T	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2465					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.S2465T(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GGGAAGTCCAGCTCTGCACAG	0.592																																						uc003qta.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(7393-7395)AGC>ACC		insulin-like growth factor 2 receptor precursor							91.0	76.0	81.0					6																	160526034		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160526034G>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.7394G>C	6.37:g.160526034G>C	ENSP00000349437:p.Ser2465Thr						p.S2465T	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	48	7542	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2465			Cytoplasmic (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.7394G>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	5.208	0.223835	0.09863	.	.	ENSG00000197081	ENST00000356956	T	0.08984	3.03	5.07	0.532	0.17114	.	0.616297	0.15725	N	0.247682	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46275	-0.9203	10	0.52906	T	0.07	-13.918	4.1662	0.10308	0.4098:0.3433:0.247:0.0	.	2465	P11717	MPRI_HUMAN	T	2465	ENSP00000349437:S2465T	ENSP00000349437:S2465T	S	+	2	0	IGF2R	160446024	0.004000	0.15560	0.000000	0.03702	0.036000	0.12997	1.643000	0.37217	0.239000	0.21243	-0.140000	0.14226	AGC		PASS	0.592	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		24	24	24	24	---	---	---	---
UNC93A	54346	broad.mit.edu	37	6	167708167	167708167	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr6:167708167G>T	ENST00000230256.3	+	2	425	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.G84C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G84C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTCTCCGTGGGCAACTTCTT	0.632																																						uc003qvq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GGC>TGC		unc-93 homolog A isoform 1							192.0	176.0	181.0					6																	167708167		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167708167G>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.250G>T	6.37:g.167708167G>T	ENSP00000230256:p.Gly84Cys					UNC93A_uc003qvr.2_Missense_Mutation_p.G84C	p.G84C	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	425	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	84			Helical; (Potential).		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.250G>T	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112543	0.56398	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	D;D;D	0.81499	-1.5;-1.5;-1.5	4.66	4.66	0.58398	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.77232	0.4100	M	0.75085	2.285	0.80722	D	1	B;B	0.30542	0.248;0.284	B;B	0.37451	0.25;0.25	T	0.79057	-0.1959	10	0.44086	T	0.13	-32.6528	16.5263	0.84332	0.0:0.0:1.0:0.0	.	84;84	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	C	84	ENSP00000421484:G84C;ENSP00000230256:G84C;ENSP00000355794:G84C	ENSP00000230256:G84C	G	+	1	0	UNC93A	167628157	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	8.516000	0.90552	2.124000	0.65301	0.313000	0.20887	GGC		PASS	0.632	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		54	137	54	137	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20739496	20739496	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:20739496T>A	ENST00000404938.2	+	18	2855	c.2203T>A	c.(2203-2205)Tat>Aat	p.Y735N	ABCB5_ENST00000258738.6_Missense_Mutation_p.Y290N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	735	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.Y290N(1)|p.Y735N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGCAGAAATTTATTCCATGAT	0.313																																						uc003suw.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(868-870)TAT>AAT		ATP-binding cassette, sub-family B, member 5							162.0	152.0	155.0					7																	20739496		2203	4298	6501	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20739496T>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2203T>A	7.37:g.20739496T>A	ENSP00000384881:p.Tyr735Asn					ABCB5_uc010kuh.2_Missense_Mutation_p.Y735N	p.Y290N	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			9	1414	+			290			Cytoplasmic (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.868T>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948855	0.53186	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90676	-2.71;-2.71	5.64	5.64	0.86602	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.53938	D	0.000054	D	0.94125	0.8116	M	0.65975	2.015	0.44323	D	0.997208	D;D	0.65815	0.983;0.995	D;D	0.68943	0.917;0.961	D	0.94622	0.7814	10	0.87932	D	0	.	13.8135	0.63276	0.0:0.0:0.0:1.0	.	735;290	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	N	735;290	ENSP00000384881:Y735N;ENSP00000258738:Y290N	ENSP00000258738:Y290N	Y	+	1	0	ABCB5	20706021	0.998000	0.40836	0.986000	0.45419	0.446000	0.32137	3.593000	0.54001	2.142000	0.66516	0.477000	0.44152	TAT		PASS	0.313	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		16	52	16	52	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21640295	21640295	+	Splice_Site	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:21640295A>G	ENST00000409508.3	+	16	3033	c.3002A>G	c.(3001-3003)aAt>aGt	p.N1001S	DNAH11_ENST00000328843.6_Splice_Site_p.N1001S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1001	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N1001S(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCATTTAGAATGATATGGAT	0.388									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(3001-3003)AAT>AGT		dynein, axonemal, heavy chain 11							182.0	179.0	180.0					7																	21640295		1931	4143	6074	SO:0001630	splice_region_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640295A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3001-1A>G	7.37:g.21640295A>G							p.N1001S	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			16	3033	+			1001			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3002A>G		.	.	.	.	.	.	.	.	.	.	A	2.442	-0.328441	0.05314	.	.	ENSG00000105877	ENST00000328843	T	0.21543	2.0	5.63	-3.91	0.04168	.	0.818052	0.11494	N	0.558406	T	0.06325	0.0163	.	.	.	0.21020	N	0.999805	B	0.02656	0.0	B	0.04013	0.001	T	0.38178	-0.9673	9	0.09590	T	0.72	.	0.6758	0.00866	0.3505:0.1047:0.2024:0.3424	.	1001	Q96DT5	DYH11_HUMAN	S	1001	ENSP00000330671:N1001S	ENSP00000330671:N1001S	N	+	2	0	DNAH11	21606820	0.010000	0.17322	0.699000	0.30290	0.847000	0.48162	-0.137000	0.10389	-0.480000	0.06803	-0.471000	0.05019	AAT		PASS	0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Missense_Mutation	67	217	67	217	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21775274	21775274	+	Missense_Mutation	SNP	C	C	A	rs375113595		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:21775274C>A	ENST00000409508.3	+	46	7488	c.7457C>A	c.(7456-7458)aCa>aAa	p.T2486K	DNAH11_ENST00000328843.6_Missense_Mutation_p.T2493K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2493	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T2493K(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCGTTCACACAACAGAGACA	0.418									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7477-7479)ACA>AAA		dynein, axonemal, heavy chain 11							60.0	57.0	58.0					7																	21775274		1872	4110	5982	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21775274C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7457C>A	7.37:g.21775274C>A	ENSP00000475939:p.Thr2486Lys						p.T2493K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			47	7509	+			2493			AAA 3 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7478C>A		.	.	.	.	.	.	.	.	.	.	C	20.5	4.002194	0.74932	.	.	ENSG00000105877	ENST00000328843	T	0.39787	1.06	5.03	4.14	0.48551	.	0.162448	0.53938	D	0.000054	T	0.62417	0.2426	.	.	.	0.43688	D	0.996135	D	0.71674	0.998	D	0.64506	0.926	T	0.68150	-0.5485	9	0.87932	D	0	.	13.3129	0.60390	0.0:0.9223:0.0:0.0777	.	2493	Q96DT5	DYH11_HUMAN	K	2493	ENSP00000330671:T2493K	ENSP00000330671:T2493K	T	+	2	0	DNAH11	21741799	1.000000	0.71417	0.980000	0.43619	0.953000	0.61014	4.490000	0.60319	1.245000	0.43885	0.655000	0.94253	ACA		PASS	0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		6	13	6	13	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135018	27135019	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:27135018_27135019CC>AA	ENST00000343060.4	-	1	574_575	c.513_514GG>TT	c.(511-516)ctGGcc>ctTTcc	p.A172S	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_Intron|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	172					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A172S(2)|p.L171L(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAGCCAGGGCCAGGCTCTGGT	0.594																																						uc003sye.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)	3						c.(514-516)GCC>TCC|c.(511-513)CTG>CTT		homeobox A1 isoform a																																				SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135018C>A|g.chr7:27135019C>A		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.513_514delinsAA	7.37:g.27135018_27135019delinsAA	ENSP00000343246:p.Ala172Ser					HOXA1_uc003syd.2_Intron|uc003syg.2_5'Flank	p.A172S|p.L171L	NM_005522	NP_005513	P49639	HXA1_HUMAN			1	608|607	-			172|171					A4D184|B2R8U7|O43363	Missense_Mutation|Silent	SNP	ENST00000343060.4	37	c.514G>T|c.513G>T	CCDS5401.1																																																																																				PASS	0.594	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			47	135|139	47	135	---	---	---	---
CREB5	9586	broad.mit.edu	37	7	28844106	28844106	+	Silent	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:28844106A>T	ENST00000357727.2	+	8	1383	c.993A>T	c.(991-993)ccA>ccT	p.P331P	CREB5_ENST00000396299.2_Silent_p.P298P|CREB5_ENST00000409603.1_Silent_p.P298P|CREB5_ENST00000396298.2_Silent_p.P192P|CREB5_ENST00000396300.2_Silent_p.P324P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	331					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P331P(1)|p.P192P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGACCTCGCCACATCCGCCCC	0.542																																						uc003szq.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(991-993)CCA>CCT		cAMP responsive element binding protein 5							394.0	267.0	310.0					7																	28844106		2203	4300	6503	SO:0001819	synonymous_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28844106A>T	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.993A>T	7.37:g.28844106A>T						CREB5_uc003szo.2_Silent_p.P298P|CREB5_uc003szr.2_Silent_p.P324P|CREB5_uc003szs.2_Silent_p.P192P	p.P331P	NM_182898	NP_878901	Q02930	CREB5_HUMAN			8	1383	+			331					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	c.993A>T	CCDS5417.1																																																																																				PASS	0.542	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		53	185	53	185	---	---	---	---
CREB5	9586	broad.mit.edu	37	7	28848876	28848876	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:28848876C>G	ENST00000357727.2	+	9	1489	c.1099C>G	c.(1099-1101)Cga>Gga	p.R367G	CREB5_ENST00000396299.2_Missense_Mutation_p.R334G|CREB5_ENST00000409603.1_Missense_Mutation_p.R334G|CREB5_ENST00000396298.2_Missense_Mutation_p.R228G|CREB5_ENST00000396300.2_Missense_Mutation_p.R360G	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	367					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R228G(1)|p.R367G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGGGCGCCGGCGAAGGGTGGT	0.627																																						uc003szq.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1099-1101)CGA>GGA		cAMP responsive element binding protein 5							54.0	58.0	57.0					7																	28848876		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28848876C>G	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1099C>G	7.37:g.28848876C>G	ENSP00000350359:p.Arg367Gly					CREB5_uc003szo.2_Missense_Mutation_p.R334G|CREB5_uc003szr.2_Missense_Mutation_p.R360G|CREB5_uc003szs.2_Missense_Mutation_p.R228G	p.R367G	NM_182898	NP_878901	Q02930	CREB5_HUMAN			9	1489	+			367					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.1099C>G	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364864	0.82463	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.43	6.17	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	L	0.61218	1.895	0.53005	D	0.999962	D;D	0.63880	0.993;0.993	D;D	0.74023	0.972;0.982	T	0.80734	-0.1250	10	0.87932	D	0	-12.0836	13.0972	0.59200	0.4942:0.5058:0.0:0.0	.	228;367	B4DU13;Q02930	.;CREB5_HUMAN	G	334;367;360;334;193;228	ENSP00000379593:R334G;ENSP00000350359:R367G;ENSP00000379594:R360G;ENSP00000387197:R334G;ENSP00000379592:R228G	ENSP00000350359:R367G	R	+	1	2	CREB5	28815401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.418000	0.52721	1.584000	0.49913	0.655000	0.94253	CGA		PASS	0.627	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		24	56	24	56	---	---	---	---
GPR141	353345	broad.mit.edu	37	7	37780665	37780665	+	Nonsense_Mutation	SNP	C	C	T	rs373247764		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:37780665C>T	ENST00000447769.1	+	4	959	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	GPR141_ENST00000334425.1_Nonsense_Mutation_p.Q224*|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q224*(1)|p.Q224K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTGGGCTCAGCTGAAAAA	0.438																																						uc003tfm.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(3)	3						c.(670-672)CAG>TAG		G protein-coupled receptor 141		C	stop/GLN	1,4405	2.1+/-5.4	0,1,2202	167.0	166.0	166.0		670	5.2	0.9	7		166	0,8600		0,0,4300	no	stop-gained	GPR141	NM_181791.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		224/306	37780665	1,13005	2203	4300	6503	SO:0001587	stop_gained	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780665C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.670C>T	7.37:g.37780665C>T	ENSP00000390410:p.Gln224*					uc003tfl.2_Intron	p.Q224*	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	670	+			224			Cytoplasmic (Potential).		A4D1X7|Q0VAR5|Q86SP3	Nonsense_Mutation	SNP	ENST00000447769.1	37	c.670C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358774	0.95854	2.27E-4	0.0	ENSG00000187037	ENST00000447769;ENST00000334425	.	.	.	5.2	5.2	0.72013	.	0.063724	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0544	18.0556	0.89363	0.0:1.0:0.0:0.0	.	.	.	.	X	224	.	ENSP00000334540:Q224X	Q	+	1	0	GPR141	37747190	1.000000	0.71417	0.889000	0.34880	0.995000	0.86356	7.289000	0.78701	2.882000	0.98803	0.655000	0.94253	CAG		PASS	0.438	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		62	156	62	156	---	---	---	---
RALA	5898	broad.mit.edu	37	7	39736308	39736308	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:39736308A>T	ENST00000005257.2	+	4	728	c.348A>T	c.(346-348)gaA>gaT	p.E116D	RALA_ENST00000468201.1_3'UTR	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	116					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E116D(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GAGTAAAAGAAGATGAGAATG	0.348																																						uc003thd.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(346-348)GAA>GAT		ras related v-ral simian leukemia viral oncogene							58.0	58.0	58.0					7																	39736308		2203	4300	6503	SO:0001583	missense	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39736308A>T		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.348A>T	7.37:g.39736308A>T	ENSP00000005257:p.Glu116Asp						p.E116D	NM_005402	NP_005393	P11233	RALA_HUMAN			4	648	+			116					A4D1W3	Missense_Mutation	SNP	ENST00000005257.2	37	c.348A>T	CCDS5460.1	.	.	.	.	.	.	.	.	.	.	A	5.652	0.304888	0.10678	.	.	ENSG00000006451	ENST00000005257	T	0.77098	-1.07	4.84	3.51	0.40186	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	N	0.02539	-0.55	0.58432	D	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.49312	-0.8953	10	0.02654	T	1	.	7.3182	0.26513	0.7939:0.0:0.2061:0.0	.	116	P11233	RALA_HUMAN	D	116	ENSP00000005257:E116D	ENSP00000005257:E116D	E	+	3	2	RALA	39702833	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.469000	0.53093	1.942000	0.56320	0.460000	0.39030	GAA		PASS	0.348	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402		19	50	19	50	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42006047	42006047	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:42006047C>A	ENST00000395925.3	-	15	2708	c.2624G>T	c.(2623-2625)cGc>cTc	p.R875L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	875					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R875L(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTCGCTGGAGCGGCGGCTGGA	0.687									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(2623-2625)CGC>CTC		GLI-Kruppel family member GLI3							19.0	21.0	20.0					7																	42006047		2185	4249	6434	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42006047C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2624G>T	7.37:g.42006047C>A	ENSP00000379258:p.Arg875Leu					GLI3_uc011kbg.1_Missense_Mutation_p.R816L	p.R875L	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	2715	-			875					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2624G>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468446	0.84533	.	.	ENSG00000106571	ENST00000395925	D	0.90620	-2.7	4.85	4.85	0.62838	.	0.140197	0.64402	D	0.000014	D	0.95701	0.8602	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.96502	0.9372	10	0.87932	D	0	.	17.9834	0.89148	0.0:1.0:0.0:0.0	.	875	P10071	GLI3_HUMAN	L	875	ENSP00000379258:R875L	ENSP00000379258:R875L	R	-	2	0	GLI3	41972572	0.999000	0.42202	0.683000	0.30040	0.996000	0.88848	5.986000	0.70563	2.214000	0.71695	0.462000	0.41574	CGC		PASS	0.687	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		10	18	10	18	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72907247	72907247	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:72907247G>A	ENST00000339594.4	-	5	914	c.576C>T	c.(574-576)gaC>gaT	p.D192D	BAZ1B_ENST00000404251.1_Silent_p.D192D	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	192	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.D192D(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TACGTGCTCTGTCATCTAGTC	0.343																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(574-576)GAC>GAT		bromodomain adjacent to zinc finger domain, 1B							110.0	105.0	107.0					7																	72907247		2202	4300	6502	SO:0001819	synonymous_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72907247G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.576C>T	7.37:g.72907247G>A							p.D192D	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			5	921	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	192			Mediates the tyrosine-protein kinase activity.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	c.576C>T	CCDS5549.1																																																																																				PASS	0.343	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		12	50	12	50	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82585984	82585984	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:82585984C>T	ENST00000333891.9	-	5	4622	c.4285G>A	c.(4285-4287)Gat>Aat	p.D1429N	PCLO_ENST00000423517.2_Missense_Mutation_p.D1429N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.D1429N(2)|p.D1360N(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACTTTTCATCAGCAAGTGTA	0.403																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(4285-4287)GAT>AAT		piccolo isoform 1							134.0	122.0	126.0					7																	82585984		1828	4074	5902	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585984C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4285G>A	7.37:g.82585984C>T	ENSP00000334319:p.Asp1429Asn					PCLO_uc003uhv.2_Missense_Mutation_p.D1429N	p.D1429N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4574	-			1360						Missense_Mutation	SNP	ENST00000333891.9	37	c.4285G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144786	0.21288	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15718	2.4;2.41	5.15	4.27	0.50696	.	.	.	.	.	T	0.08980	0.0222	N	0.04508	-0.205	0.80722	D	1	B;B	0.30281	0.275;0.275	B;B	0.27715	0.055;0.082	T	0.23940	-1.0174	9	0.87932	D	0	.	13.0596	0.59000	0.0:0.9223:0.0:0.0777	.	1429;1429	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1360;1429;1429	ENSP00000334319:D1429N;ENSP00000388393:D1429N	ENSP00000334319:D1429N	D	-	1	0	PCLO	82423920	0.991000	0.36638	0.139000	0.22197	0.337000	0.28794	4.515000	0.60489	2.391000	0.81399	0.561000	0.74099	GAT		PASS	0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		38	98	38	98	---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86522259	86522259	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:86522259T>A	ENST00000450689.2	-	20	3028	c.2843A>T	c.(2842-2844)tAc>tTc	p.Y948F	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.Y781F|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.Y708F|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.Y877F	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	948						integral component of membrane (GO:0016021)		p.Y708F(1)|p.Y948F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTTCCAGAAGTAGCAGGTCAG	0.443																																						uc011kha.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(1)	7						c.(2842-2844)TAC>TTC		hypothetical protein LOC222223 isoform 1							79.0	83.0	82.0					7																	86522259		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86522259T>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2843A>T	7.37:g.86522259T>A	ENSP00000413445:p.Tyr948Phe					KIAA1324L_uc003uif.1_Missense_Mutation_p.Y708F|KIAA1324L_uc011kgz.1_Missense_Mutation_p.Y834F|KIAA1324L_uc003uie.2_Missense_Mutation_p.Y781F	p.Y948F	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			20	3028	-	Esophageal squamous(14;0.0058)		948			Helical; (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2843A>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.141516	0.77775	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.18174	2.5;2.25;2.23;2.25	6.02	6.02	0.97574	.	0.054964	0.85682	D	0.000000	T	0.37839	0.1018	L	0.58669	1.825	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	T	0.03249	-1.1056	10	0.26408	T	0.33	.	15.7258	0.77756	0.0:0.0:0.0:1.0	.	948;708;781	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	F	948;708;877;781	ENSP00000413445:Y948F;ENSP00000297222:Y708F;ENSP00000397377:Y877F;ENSP00000402390:Y781F	ENSP00000297222:Y708F	Y	-	2	0	KIAA1324L	86360195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.139000	0.71728	2.311000	0.77944	0.533000	0.62120	TAC		PASS	0.443	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		43	91	43	91	---	---	---	---
PDK4	5166	broad.mit.edu	37	7	95222082	95222082	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:95222082C>A	ENST00000005178.5	-	4	716	c.519G>T	c.(517-519)atG>atT	p.M173I		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	173	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.M173I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGTGCTGGTTCATCAGCATCC	0.383																																						uc003uoa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)ATG>ATT		pyruvate dehydrogenase kinase 4 precursor							114.0	109.0	111.0					7																	95222082		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95222082C>A	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.519G>T	7.37:g.95222082C>A	ENSP00000005178:p.Met173Ile					PDK4_uc003unz.2_5'Flank	p.M173I	NM_002612	NP_002603	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	839	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		173			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.519G>T	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	4.279	0.050863	0.08243	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.21734	1.99	5.75	5.75	0.90469	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.068000	0.85682	D	0.000000	T	0.04588	0.0125	N	0.00380	-1.58	0.53688	D	0.99997	B	0.02656	0.0	B	0.06405	0.002	T	0.38564	-0.9655	10	0.02654	T	1	.	10.6831	0.45826	0.0:0.8582:0.0:0.1418	.	173	Q16654	PDK4_HUMAN	I	173;137	ENSP00000005178:M173I	ENSP00000005178:M173I	M	-	3	0	PDK4	95060018	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.217000	0.17603	2.885000	0.99019	0.655000	0.94253	ATG		PASS	0.383	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		28	92	28	92	---	---	---	---
ARPC1A	10552	broad.mit.edu	37	7	98957174	98957174	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:98957174G>A	ENST00000262942.5	+	8	920	c.796G>A	c.(796-798)Gac>Aac	p.D266N	ARPC1A_ENST00000432884.2_Missense_Mutation_p.D219N|ARPC1A_ENST00000471960.1_3'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	266					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)	p.D266N(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGGGCCATGACTGCTGCCC	0.537																																						uc003upx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)GAC>AAC		actin related protein 2/3 complex subunit 1A							103.0	67.0	79.0					7																	98957174		2203	4300	6503	SO:0001583	missense	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98957174G>A	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.796G>A	7.37:g.98957174G>A	ENSP00000262942:p.Asp266Asn					ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.D252N|ARPC1A_uc011kit.1_RNA	p.D266N	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	943	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		266			WD 5.		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	c.796G>A	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833527	0.71258	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.74315	-0.83;-0.83	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	L	0.39566	1.225	0.80722	D	1	B;D	0.59767	0.424;0.986	B;P	0.47786	0.201;0.557	T	0.75368	-0.3342	10	0.49607	T	0.09	.	19.7468	0.96255	0.0:0.0:1.0:0.0	.	261;266	Q53GB6;Q92747	.;ARC1A_HUMAN	N	219;266	ENSP00000408578:D219N;ENSP00000262942:D266N	ENSP00000262942:D266N	D	+	1	0	ARPC1A	98795110	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.842000	0.99487	2.731000	0.93534	0.650000	0.86243	GAC		PASS	0.537	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		12	32	12	32	---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110763987	110763987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:110763987C>T	ENST00000422987.3	+	2	1990	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000451085.1_Nonsense_Mutation_p.R387*|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Nonsense_Mutation_p.R387*|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	387	LRRCT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R387*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AACCAACATTCGATTCATGGA	0.453																																						uc003vft.3																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(1159-1161)CGA>TGA		leucine rich repeat neuronal 3 precursor							105.0	86.0	92.0					7																	110763987		2203	4300	6503	SO:0001587	stop_gained	54674					integral to membrane		g.chr7:110763987C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1159C>T	7.37:g.110763987C>T	ENSP00000412417:p.Arg387*					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Nonsense_Mutation_p.R387*|LRRN3_uc003vfs.3_Nonsense_Mutation_p.R387*	p.R387*	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2205	+			387			Extracellular (Potential).|LRRCT.		O43377|Q6I9V8|Q8IYQ6	Nonsense_Mutation	SNP	ENST00000422987.3	37	c.1159C>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	43	10.330401	0.99384	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	.	.	.	5.81	4.92	0.64577	.	0.000000	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4112	0.83712	0.1323:0.8676:0.0:0.0	.	.	.	.	X	387	.	ENSP00000312001:R387X	R	+	1	2	LRRN3	110551223	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.203000	0.51075	1.428000	0.47296	0.650000	0.86243	CGA		PASS	0.453	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		26	67	26	67	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111509672	111509672	+	Silent	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:111509672G>T	ENST00000437633.1	-	21	2323	c.2067C>A	c.(2065-2067)atC>atA	p.I689I	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.I689I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	689					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.I689I(1)|p.I677I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTGCTTCTGTGATCCGGTCCA	0.423																																						uc003vfx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(2065-2067)ATC>ATA		dedicator of cytokinesis 4							164.0	146.0	152.0					7																	111509672		1997	4182	6179	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111509672G>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2067C>A	7.37:g.111509672G>T						DOCK4_uc003vfw.2_Silent_p.I130I|DOCK4_uc003vfy.2_Silent_p.I689I|DOCK4_uc003vga.1_Silent_p.I294I	p.I689I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			21	2336	-		Acute lymphoblastic leukemia(1;0.0441)	689					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2067C>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450284	0.26074	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.3	-6.28	0.02020	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4067	0.99009	0.0752:0.0:0.8034:0.1214	.	.	.	.	X	141;677	.	.	S	-	2	0	DOCK4	111296908	0.303000	0.24463	0.815000	0.32552	0.996000	0.88848	-0.418000	0.07080	-1.355000	0.02186	0.650000	0.86243	TCA		PASS	0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		19	50	19	50	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915291	119915291	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:119915291A>T	ENST00000331113.4	+	1	1570	c.605A>T	c.(604-606)aAt>aTt	p.N202I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	202					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.N202I(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTCATCGCGAATGTGGTGGAA	0.572																																						uc003vjj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(604-606)AAT>ATT		potassium voltage-gated channel, Shal-related							106.0	99.0	101.0					7																	119915291		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915291A>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.605A>T	7.37:g.119915291A>T	ENSP00000333496:p.Asn202Ile						p.N202I	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1570	+	all_neural(327;0.117)		202			Helical; Name=Segment S1; (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.605A>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806113	0.70682	.	.	ENSG00000184408	ENST00000331113	D	0.96587	-4.06	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	M	0.86805	2.84	0.80722	D	1	P	0.47604	0.898	P	0.47162	0.54	D	0.97139	0.9823	9	.	.	.	.	15.7621	0.78091	1.0:0.0:0.0:0.0	.	202	Q9NZV8	KCND2_HUMAN	I	202	ENSP00000333496:N202I	.	N	+	2	0	KCND2	119702527	1.000000	0.71417	0.600000	0.28864	0.683000	0.39861	7.327000	0.79147	2.134000	0.65973	0.460000	0.39030	AAT		PASS	0.572	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		26	85	26	85	---	---	---	---
ZNF800	168850	broad.mit.edu	37	7	127026190	127026190	+	Silent	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:127026190T>A	ENST00000393313.1	-	3	672	c.81A>T	c.(79-81)ggA>ggT	p.G27G	ZNF800_ENST00000265827.3_Silent_p.G27G|ZNF800_ENST00000393312.1_Silent_p.G27G			Q2TB10	ZN800_HUMAN	zinc finger protein 800	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G27G(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AAGGAGGATCTCCAGGTTCCA	0.353																																						uc003vlx.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(79-81)GGA>GGT		zinc finger protein 800							112.0	106.0	108.0					7																	127026190		2203	4300	6503	SO:0001819	synonymous_variant	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127026190T>A	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.81A>T	7.37:g.127026190T>A						ZNF800_uc003vlw.1_5'UTR|ZNF800_uc003vly.1_Silent_p.G27G|ZNF800_uc010lla.2_Silent_p.G27G	p.G27G	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			3	344	-			27					Q9HBN0	Silent	SNP	ENST00000393313.1	37	c.81A>T	CCDS5795.1																																																																																				PASS	0.353	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		40	104	40	104	---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701707	143701707	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:143701707C>T	ENST00000408922.2	+	1	686	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I206I(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CACTGGTCATCTTCCTATTCC	0.458																																						uc003wdt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(616-618)ATC>ATT		olfactory receptor, family 6, subfamily B,							205.0	196.0	199.0					7																	143701707		2014	4190	6204	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701707C>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.618C>T	7.37:g.143701707C>T							p.I206I	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	618	+	Melanoma(164;0.0783)		206			Helical; Name=5; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.618C>T	CCDS43667.1																																																																																				PASS	0.458	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			54	169	54	169	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143747840	143747840	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:143747840G>C	ENST00000408906.2	+	1	380	c.346G>C	c.(346-348)Gta>Cta	p.V116L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V116L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTCATCTTGGTAATGATGTC	0.453																																						uc011ktw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(346-348)GTA>CTA		olfactory receptor, family 2, subfamily A,							171.0	169.0	170.0					7																	143747840		2101	4245	6346	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747840G>C	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.346G>C	7.37:g.143747840G>C	ENSP00000386208:p.Val116Leu						p.V116L	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	346	+	Melanoma(164;0.0783)		116			Helical; Name=3; (Potential).		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.346G>C	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250499	0.22880	.	.	ENSG00000221836	ENST00000408906	T	0.00493	7.0	5.25	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	L	0.48174	1.505	0.09310	N	1	B	0.27594	0.182	B	0.24394	0.053	T	0.47100	-0.9143	9	0.52906	T	0.07	.	7.0239	0.24930	0.0904:0.1764:0.7332:0.0	.	116	Q96R48	OR2A5_HUMAN	L	116	ENSP00000386208:V116L	ENSP00000386208:V116L	V	+	1	0	OR2A5	143378773	0.053000	0.20554	0.029000	0.17559	0.878000	0.50629	1.837000	0.39201	1.383000	0.46405	0.557000	0.71058	GTA		PASS	0.453	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			100	233	100	233	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146997380	146997380	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:146997380G>C	ENST00000361727.3	+	9	2012	c.1496G>C	c.(1495-1497)gGa>gCa	p.G499A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	499	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.G499A(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACTTTTTTGGAGGTAAGAAT	0.348										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1495-1497)GGA>GCA		cell recognition molecule Caspr2 precursor							94.0	88.0	90.0					7																	146997380		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146997380G>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1496G>C	7.37:g.146997380G>C	ENSP00000354778:p.Gly499Ala	HNSCC(39;0.1)					p.G499A	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		9	2012	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	499			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1496G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829910	0.91036	.	.	ENSG00000174469	ENST00000361727	D	0.98474	-4.95	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000011	D	0.99001	0.9659	M	0.87682	2.9	0.80722	D	1	D	0.56035	0.974	D	0.66497	0.944	D	0.99461	1.0943	10	0.54805	T	0.06	.	18.3948	0.90494	0.0:0.0:1.0:0.0	.	499	Q9UHC6	CNTP2_HUMAN	A	499	ENSP00000354778:G499A	ENSP00000354778:G499A	G	+	2	0	CNTNAP2	146628313	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.185000	0.94900	2.679000	0.91253	0.563000	0.77884	GGA		PASS	0.348	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			34	67	34	67	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157367056	157367056	+	Intron	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr7:157367056T>C	ENST00000389418.4	-	19	2793				PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000389416.4_Intron|MIR153-2_ENST00000385225.1_RNA|PTPRN2_ENST00000404321.2_Intron	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2						negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTTTTGTGACTATGCAACTGG	0.488																																						hsa-mir-153-2|MI0000464																			0					0															142.0	123.0	129.0					7																	157367056		1568	3582	5150	SO:0001627	intron_variant	406945							g.chr7:157367056T>C	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2783+2248A>G	7.37:g.157367056T>C						PTPRN2_uc003wno.2_Intron|PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc011kwb.1_RNA										-								E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	RNA	SNP	ENST00000389418.4	37	c.59T>C	CCDS5947.1																																																																																				PASS	0.488	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			45	98	45	98	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2050546	2050546	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:2050546G>T	ENST00000262113.4	+	21	2850	c.2709G>T	c.(2707-2709)gaG>gaT	p.E903D	MYOM2_ENST00000523438.1_Missense_Mutation_p.E328D	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	903	Fibronectin type-III 5. {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)	p.E903D(1)		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)		ACACGTCGGAGCCTGTGCTGG	0.498																																						uc003wpx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2707-2709)GAG>GAT		myomesin 2							72.0	61.0	65.0					8																	2050546		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2050546G>T		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.2709G>T	8.37:g.2050546G>T	ENSP00000262113:p.Glu903Asp					MYOM2_uc011kwi.1_Missense_Mutation_p.E328D	p.E903D	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)	21	2847	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	903			Fibronectin type-III 5.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2709G>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.569670	0.00895	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.55052	0.54;0.54	4.54	0.0544	0.14311	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.246207	0.40818	N	0.001017	T	0.25382	0.0617	N	0.16233	0.39	0.34905	D	0.746892	B	0.17667	0.023	B	0.18263	0.021	T	0.14531	-1.0469	10	0.08837	T	0.75	.	3.8509	0.08954	0.5649:0.0:0.2469:0.1882	.	903	P54296	MYOM2_HUMAN	D	903;328	ENSP00000262113:E903D;ENSP00000428396:E328D	ENSP00000262113:E903D	E	+	3	2	MYOM2	2037953	0.968000	0.33430	0.653000	0.29593	0.013000	0.08279	0.129000	0.15830	0.135000	0.18707	0.609000	0.83330	GAG		PASS	0.498	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		23	40	23	40	---	---	---	---
MSR1	4481	broad.mit.edu	37	8	16026114	16026114	+	Silent	SNP	G	G	T	rs533140719		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:16026114G>T	ENST00000262101.5	-	4	604	c.483C>A	c.(481-483)acC>acA	p.T161T	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.T161T|MSR1_ENST00000445506.2_Silent_p.T179T|MSR1_ENST00000350896.3_Silent_p.T161T|MSR1_ENST00000381998.4_Silent_p.T161T			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	161					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.T161T(4)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGGAAAACAAGGTACTTAGCT	0.388																																						uc003wwz.2																			4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)	1						c.(481-483)ACC>ACA		macrophage scavenger receptor 1 isoform type 1							212.0	193.0	199.0					8																	16026114		2203	4300	6503	SO:0001819	synonymous_variant	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026114G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.483C>A	8.37:g.16026114G>T						MSR1_uc010lsu.2_Silent_p.T179T|MSR1_uc003wxa.2_Silent_p.T161T|MSR1_uc003wxb.2_Silent_p.T161T|MSR1_uc011kxz.1_Intron	p.T161T	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	681	-			161			Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	c.483C>A	CCDS5995.1																																																																																				PASS	0.388	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			41	145	41	145	---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20112616	20112616	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:20112616C>T	ENST00000381569.1	-	2	434	c.77G>A	c.(76-78)cGc>cAc	p.R26H	LZTS1_ENST00000522290.1_Missense_Mutation_p.R26H|LZTS1_ENST00000265801.6_Missense_Mutation_p.R26H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	26					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R26H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGAGGACTTGCGCAGCTTGTA	0.612																																						uc003wzr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)CGC>CAC		leucine zipper, putative tumor suppressor 1							68.0	70.0	69.0					8																	20112616		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20112616C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.77G>A	8.37:g.20112616C>T	ENSP00000370981:p.Arg26His					LZTS1_uc010ltg.1_Missense_Mutation_p.R26H	p.R26H	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	1	188	-			26					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.77G>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652001	0.88056	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248;ENST00000334294	T;T;T	0.29397	1.92;1.92;1.57	5.98	5.98	0.97165	.	0.114480	0.64402	D	0.000009	T	0.40956	0.1138	L	0.38175	1.15	0.46874	D	0.99923	D;B	0.71674	0.998;0.101	P;B	0.54312	0.748;0.009	T	0.04281	-1.0963	10	0.46703	T	0.11	-32.1428	19.022	0.92919	0.0:1.0:0.0:0.0	.	26;26	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	H	26	ENSP00000370981:R26H;ENSP00000265801:R26H;ENSP00000429263:R26H	ENSP00000265801:R26H	R	-	2	0	LZTS1	20156896	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.830000	0.48136	2.835000	0.97688	0.650000	0.86243	CGC		PASS	0.612	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		7	100	7	100	---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25323754	25323755	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:25323754_25323755GC>TA	ENST00000330560.3	+	5	928_929	c.451_452GC>TA	c.(451-453)GCt>TAt	p.A151Y	CDCA2_ENST00000380665.3_Missense_Mutation_p.A136Y	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	151					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A151D(1)|p.A151Y(1)|p.A151S(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTCCAGTCAGCTTTTCACTCC	0.406																																						uc003xep.1																			3	Substitution - Missense(3)		lung(3)		0						c.(451-453)GCT>TCT|c.(451-453)GCT>GAT		cell division cycle associated 2																																				SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25323754G>T|g.chr8:25323755C>A	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	Exception_encountered	8.37:g.25323754_25323755delinsTA	ENSP00000328228:p.Ala151Tyr					PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.A151S|CDCA2_uc003xeq.1_Missense_Mutation_p.A136S|CDCA2_uc003xer.1_5'Flank|PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.A151D|CDCA2_uc003xeq.1_Missense_Mutation_p.A136D|CDCA2_uc003xer.1_5'Flank	p.A151S|p.A151D	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	5	930|931	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	151					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.451G>T|c.452C>A	CCDS6049.1																																																																																				PASS	0.406	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		9|8	74|75	8	74	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43197382	43197382	+	RNA	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:43197382C>G	ENST00000522175.2	+	0	1135							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S424*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACATGGCCATCAGAAATAGCG	0.338																																						uc003xpz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1270-1272)TCA>TGA		POTE ankyrin domain family, member A isoform 2							131.0	127.0	128.0					8																	43197382		1848	4088	5936			340441							g.chr8:43197382C>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43197382C>G						POTEA_uc003xqa.1_Nonsense_Mutation_p.S378*	p.S424*	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			11	1314	+			424					A6ND17|A6ND71|Q6S8J6	Nonsense_Mutation	SNP	ENST00000522175.2	37	c.1271C>G																																																																																					PASS	0.338	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		28	85	28	85	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321288	52321288	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:52321288C>A	ENST00000356297.4	-	17	2996	c.2896G>T	c.(2896-2898)Gct>Tct	p.A966S	PXDNL_ENST00000543296.1_Missense_Mutation_p.A966S	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	966					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A966S(1)|p.A165S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCGGCCAGAGCCAGATGCTCG	0.642																																						uc003xqu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2896-2898)GCT>TCT		peroxidasin homolog-like precursor							13.0	15.0	14.0					8																	52321288		1985	4151	6136	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321288C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2896G>T	8.37:g.52321288C>A	ENSP00000348645:p.Ala966Ser					PXDNL_uc003xqt.3_RNA	p.A966S	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2997	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	966					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2896G>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.146|9.146	1.015136|1.015136	0.19355|0.19355	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.69306|.	-0.39;-0.39|.	3.85|3.85	2.97|2.97	0.34412|0.34412	.|.	0.130918|.	0.33916|.	N|.	0.004431|.	T|T	0.37625|0.37625	0.1010|0.1010	L|L	0.39633|0.39633	1.23|1.23	0.22081|0.22081	N|N	0.999375|0.999375	B|.	0.22146|.	0.065|.	B|.	0.29440|.	0.102|.	T|T	0.20840|0.20840	-1.0263|-1.0263	10|5	0.52906|.	T|.	0.07|.	.|.	9.126|9.126	0.36816|0.36816	0.0:0.8864:0.0:0.1136|0.0:0.8864:0.0:0.1136	.|.	966|.	A1KZ92|.	PXDNL_HUMAN|.	S|C	966|84	ENSP00000348645:A966S;ENSP00000444865:A966S|.	ENSP00000348645:A966S|.	A|W	-|-	1|3	0|0	PXDNL|PXDNL	52483841|52483841	0.660000|0.660000	0.27420|0.27420	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	3.987000|3.987000	0.56944|0.56944	0.602000|0.602000	0.29896|0.29896	0.655000|0.655000	0.94253|0.94253	GCT|TGG		PASS	0.642	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	17	4	17	---	---	---	---
NPBWR1	2831	broad.mit.edu	37	8	53852521	53852521	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:53852521C>A	ENST00000331251.3	+	1	1531	c.54C>A	c.(52-54)gaC>gaA	p.D18E		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	18					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.D18E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CGGGCCCGGACCCGGCGCTGA	0.716																																						uc011ldu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(52-54)GAC>GAA		G protein-coupled receptor 7							8.0	10.0	9.0					8																	53852521		2151	4227	6378	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852521C>A	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.54C>A	8.37:g.53852521C>A	ENSP00000330284:p.Asp18Glu						p.D18E	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	54	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	18			Extracellular (Potential).		Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.54C>A	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	6.941	0.543489	0.13250	.	.	ENSG00000183729	ENST00000331251	T	0.36878	1.23	4.38	-6.78	0.01721	.	538.930000	0.00465	U	0.000118	T	0.14830	0.0358	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.11084	-1.0602	10	0.18710	T	0.47	.	3.0132	0.06051	0.1063:0.3172:0.1162:0.4603	.	18	P48145	NPBW1_HUMAN	E	18	ENSP00000330284:D18E	ENSP00000330284:D18E	D	+	3	2	NPBWR1	54015074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.710000	0.05024	-1.590000	0.01623	-0.143000	0.13931	GAC		PASS	0.716	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		16	25	16	25	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93003903	93003903	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:93003903T>A	ENST00000523629.1	-	7	1409	c.955A>T	c.(955-957)Agc>Tgc	p.S319C	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.S292C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.S282C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.S330C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.S292C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.S319C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.S282C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.S282C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	319					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S319C(1)|p.S282C(1)|p.S330C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCCCTGTGGCTGGGGTGTCGA	0.537																																						uc003yfd.2																			3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(955-957)AGC>TGC		acute myelogenous leukemia 1 translocation 1							183.0	166.0	172.0					8																	93003903		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93003903T>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.955A>T	8.37:g.93003903T>A	ENSP00000428543:p.Ser319Cys					RUNX1T1_uc003yfc.1_Missense_Mutation_p.S292C|RUNX1T1_uc003yfe.1_Missense_Mutation_p.S282C|RUNX1T1_uc010mao.2_Missense_Mutation_p.S292C|RUNX1T1_uc011lgi.1_Missense_Mutation_p.S330C|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.S282C	p.S319C	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1039	-			319					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.955A>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920176	0.73098	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.32023	1.48;1.48;1.48;1.48;1.48;1.48;1.47;1.48	6.17	6.17	0.99709	.	0.074022	0.85682	D	0.000000	T	0.28400	0.0702	N	0.08118	0	0.50171	D	0.999855	P;P;P	0.47841	0.901;0.667;0.824	P;P;P	0.50754	0.497;0.447;0.649	T	0.21965	-1.0230	10	0.66056	D	0.02	-22.3753	16.4837	0.84171	0.0:0.0:0.0:1.0	.	330;319;292	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	C	319;292;319;282;282;282;330;292	ENSP00000428543:S319C;ENSP00000379520:S292C;ENSP00000265814:S319C;ENSP00000353504:S282C;ENSP00000390137:S282C;ENSP00000428742:S282C;ENSP00000402257:S330C;ENSP00000430728:S292C	ENSP00000265814:S319C	S	-	1	0	RUNX1T1	93073079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.953000	0.70290	2.371000	0.80710	0.533000	0.62120	AGC		PASS	0.537	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		48	121	48	121	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99170282	99170282	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:99170282C>T	ENST00000401707.2	+	16	2939	c.2858C>T	c.(2857-2859)cCg>cTg	p.P953L	POP1_ENST00000349693.3_Missense_Mutation_p.P953L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	953					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.P953L(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGCCCTCTGCCGCGTGTGACG	0.607																																						uc003yij.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2857-2859)CCG>CTG		processing of precursor 1							104.0	110.0	108.0					8																	99170282		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99170282C>T	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2858C>T	8.37:g.99170282C>T	ENSP00000385787:p.Pro953Leu					POP1_uc011lgv.1_Missense_Mutation_p.P953L|POP1_uc003yik.2_Missense_Mutation_p.P953L	p.P953L	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		16	2958	+	Breast(36;1.78e-06)		953					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.2858C>T	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322663	0.60634	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.14022	2.54;2.54	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17837	-1.0356	10	0.72032	D	0.01	-4.0766	17.6421	0.88139	0.0:1.0:0.0:0.0	.	953	Q99575	POP1_HUMAN	L	953	ENSP00000385787:P953L;ENSP00000339529:P953L	ENSP00000339529:P953L	P	+	2	0	POP1	99239458	1.000000	0.71417	0.952000	0.39060	0.195000	0.23768	5.794000	0.69067	2.576000	0.86940	0.557000	0.71058	CCG		PASS	0.607	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		81	177	81	177	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105405140	105405140	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:105405140C>T	ENST00000351513.2	-	8	1447	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	439					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.V439M(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAAATAGTCACAAGGGGCACC	0.428																																						uc003yly.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1315-1317)GTG>ATG		dihydropyrimidinase							111.0	117.0	115.0					8																	105405140		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105405140C>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1315G>A	8.37:g.105405140C>T	ENSP00000276651:p.Val439Met					DPYS_uc010mcf.1_Missense_Mutation_p.V9M	p.V439M	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		8	1444	-			439						Missense_Mutation	SNP	ENST00000351513.2	37	c.1315G>A	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933063	0.92458	.	.	ENSG00000147647	ENST00000351513	T	0.74002	-0.8	5.8	5.8	0.92144	Metal-dependent hydrolase, composite domain (1);	0.062589	0.64402	D	0.000006	T	0.73892	0.3645	N	0.21097	0.63	0.58432	D	0.999999	D	0.54207	0.965	P	0.52514	0.701	T	0.73895	-0.3838	10	0.42905	T	0.14	-28.0523	20.0914	0.97820	0.0:1.0:0.0:0.0	.	439	Q14117	DPYS_HUMAN	M	439	ENSP00000276651:V439M	ENSP00000276651:V439M	V	-	1	0	DPYS	105474316	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	4.685000	0.61693	2.741000	0.93983	0.645000	0.84053	GTG		PASS	0.428	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		58	126	58	126	---	---	---	---
EIF3E	3646	broad.mit.edu	37	8	109241376	109241376	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:109241376C>A	ENST00000220849.5	-	6	582	c.520G>T	c.(520-522)Gcc>Tcc	p.A174S	RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Missense_Mutation_p.A81S	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.A174S(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			ATTTCAGAGGCCAGCTTTCCC	0.358																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(520-522)GCC>TCC		eukaryotic translation initiation factor 3,							97.0	94.0	95.0					8																	109241376		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109241376C>A	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.520G>T	8.37:g.109241376C>A	ENSP00000220849:p.Ala174Ser					EIF3E_uc003ymt.2_Missense_Mutation_p.A125S|EIF3E_uc003ymv.2_Missense_Mutation_p.A81S|EIF3E_uc010mci.1_Missense_Mutation_p.A174S	p.A174S	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		6	548	-			174			Sufficient for interaction with TRIM27.			Missense_Mutation	SNP	ENST00000220849.5	37	c.520G>T	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	C	34	5.410819	0.96072	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.52526	0.66;0.66;0.66	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.79926	2.475	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.60541	0.876;0.831	T	0.70699	-0.4800	9	.	.	.	-9.7265	19.3726	0.94495	0.0:1.0:0.0:0.0	.	174;174	B2R806;P60228	.;EIF3E_HUMAN	S	174;81;47	ENSP00000220849:A174S;ENSP00000428796:A81S;ENSP00000430839:A47S	.	A	-	1	0	EIF3E	109310552	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.701000	0.84566	2.648000	0.89879	0.585000	0.79938	GCC		PASS	0.358	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		27	104	27	104	---	---	---	---
EIF3E	3646	broad.mit.edu	37	8	109241378	109241378	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:109241378A>G	ENST00000220849.5	-	6	580	c.518T>C	c.(517-519)cTg>cCg	p.L173P	RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Missense_Mutation_p.L80P	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.L173P(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TTCAGAGGCCAGCTTTCCCCA	0.358																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(517-519)CTG>CCG		eukaryotic translation initiation factor 3,							95.0	92.0	93.0					8																	109241378		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109241378A>G	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.518T>C	8.37:g.109241378A>G	ENSP00000220849:p.Leu173Pro					EIF3E_uc003ymt.2_Missense_Mutation_p.L124P|EIF3E_uc003ymv.2_Missense_Mutation_p.L80P|EIF3E_uc010mci.1_Missense_Mutation_p.L173P	p.L173P	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		6	546	-			173			Sufficient for interaction with TRIM27.			Missense_Mutation	SNP	ENST00000220849.5	37	c.518T>C	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387773	0.82902	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.58210	0.35;0.35;0.35	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	D	0.84538	0.0637	9	.	.	.	-11.7192	15.5821	0.76452	1.0:0.0:0.0:0.0	.	173;173	B2R806;P60228	.;EIF3E_HUMAN	P	173;80;46	ENSP00000220849:L173P;ENSP00000428796:L80P;ENSP00000430839:L46P	.	L	-	2	0	EIF3E	109310554	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.195000	0.94971	2.139000	0.66308	0.477000	0.44152	CTG		PASS	0.358	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		28	104	28	104	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113277673	113277673	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:113277673C>A	ENST00000297405.5	-	60	9899	c.9655G>T	c.(9655-9657)Ggc>Tgc	p.G3219C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3149C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3179C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3050C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3219	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3179C(1)|p.T3214_W3221del(1)|p.G3219C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCCATGTGCCATTAATTGTA	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			3	Substitution - Missense(2)|Deletion - In frame(1)	p.T3214_W3221del(1)	lung(2)|breast(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9655-9657)GGC>TGC		CUB and Sushi multiple domains 3 isoform 1							170.0	150.0	157.0					8																	113277673		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113277673C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9655G>T	8.37:g.113277673C>A	ENSP00000297405:p.Gly3219Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2421C|CSMD3_uc003ynt.2_Missense_Mutation_p.G3179C|CSMD3_uc011lhx.1_Missense_Mutation_p.G3050C	p.G3219C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			60	9814	-			3219			Extracellular (Potential).|Sushi 24.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9655G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487821	0.84854	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.44	5.44	0.79542	Complement control module (2);Sushi/SCR/CCP (3);	0.073897	0.53938	D	0.000053	D	0.91821	0.7412	H	0.99498	4.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.973	D	0.95113	0.8240	10	0.87932	D	0	.	19.6111	0.95607	0.0:1.0:0.0:0.0	.	3050;3219;3179	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3179;3219;2489;3050;3149	ENSP00000345799:G3179C;ENSP00000297405:G3219C;ENSP00000341558:G2489C;ENSP00000412263:G3050C;ENSP00000343124:G3149C	ENSP00000297405:G3219C	G	-	1	0	CSMD3	113346849	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.042000	0.57347	2.714000	0.92807	0.585000	0.79938	GGC		PASS	0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		47	116	47	116	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118173999	118173999	+	Nonsense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:118173999A>T	ENST00000456015.2	+	5	595	c.595A>T	c.(595-597)Aga>Tga	p.R199*	SLC30A8_ENST00000519688.1_Nonsense_Mutation_p.R150*|SLC30A8_ENST00000427715.2_Nonsense_Mutation_p.R150*|RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000521243.1_Nonsense_Mutation_p.R150*	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	199					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.R199*(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTTGCACCAGAGATGCCTTGG	0.458																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(595-597)AGA>TGA		solute carrier family 30 member 8							153.0	129.0	137.0					8																	118173999		2203	4300	6503	SO:0001587	stop_gained	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118173999A>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.595A>T	8.37:g.118173999A>T	ENSP00000415011:p.Arg199*					SLC30A8_uc010mcz.2_Nonsense_Mutation_p.R150*|SLC30A8_uc011lia.1_Nonsense_Mutation_p.R150*|SLC30A8_uc003yog.2_Nonsense_Mutation_p.R150*	p.R199*	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		5	825	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		199			HXXXXX[HY]NH-motif.|Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Nonsense_Mutation	SNP	ENST00000456015.2	37	c.595A>T	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	A	38	7.252140	0.98164	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	.	.	.	5.47	1.67	0.24075	.	0.224065	0.47455	D	0.000237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-6.5666	2.1236	0.03731	0.4391:0.2578:0.0716:0.2315	.	.	.	.	X	150;150;150;199	.	ENSP00000407505:R150X	R	+	1	2	SLC30A8	118243180	0.000000	0.05858	0.305000	0.25099	0.753000	0.42808	-0.742000	0.04850	0.109000	0.17891	-0.316000	0.08728	AGA		PASS	0.458	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		24	78	24	78	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124382061	124382061	+	Splice_Site	SNP	T	T	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:124382061T>G	ENST00000287394.5	-	7	1038	c.931A>C	c.(931-933)Aaa>Caa	p.K311Q	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	311					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K311Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGCACTTACTTTCCAATGGA	0.323																																						uc003yqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(931-933)AAA>CAA		ATPase family, AAA domain containing 2							238.0	208.0	218.0					8																	124382061		2203	4300	6503	SO:0001630	splice_region_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382061T>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.931+1A>C	8.37:g.124382061T>G						ATAD2_uc011lii.1_Missense_Mutation_p.K102Q|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.K311Q	p.K311Q	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	1039	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		311					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.931A>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371314	0.24771	.	.	ENSG00000156802	ENST00000287394	D	0.92048	-2.96	5.23	5.23	0.72850	.	.	.	.	.	D	0.85526	0.5717	L	0.29908	0.895	0.80722	D	1	B;B	0.24618	0.046;0.107	B;B	0.25291	0.059;0.044	T	0.80450	-0.1377	8	.	.	.	-25.4082	9.6093	0.39652	0.0:0.0797:0.0:0.9203	.	141;311	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	Q	311	ENSP00000287394:K311Q	.	K	-	1	0	ATAD2	124451242	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	4.436000	0.59948	2.095000	0.63458	0.533000	0.62120	AAA		PASS	0.323	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	Missense_Mutation	26	70	26	70	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125076747	125076747	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:125076747C>T	ENST00000522917.1	+	26	3694	c.3488C>T	c.(3487-3489)tCa>tTa	p.S1163L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.S1163L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1163						integral component of membrane (GO:0016021)		p.S1163L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTCCCTGACTCATCCCCGATG	0.552																																						uc003yqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3487-3489)TCA>TTA		fer-1-like 6							68.0	73.0	71.0					8																	125076747		1993	4171	6164	SO:0001583	missense	654463					integral to membrane		g.chr8:125076747C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3488C>T	8.37:g.125076747C>T	ENSP00000428280:p.Ser1163Leu					uc003yqy.1_Intron	p.S1163L	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		26	3694	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1163			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.3488C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225294	0.39300	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81163	-1.46;-1.46	4.99	4.99	0.66335	.	2.092840	0.02384	U	0.079089	T	0.75287	0.3829	L	0.34521	1.04	0.35880	D	0.828915	B	0.29716	0.255	B	0.22152	0.038	T	0.52881	-0.8516	10	0.26408	T	0.33	3.472	13.7922	0.63148	0.0:1.0:0.0:0.0	.	1163	Q2WGJ9	FR1L6_HUMAN	L	1163	ENSP00000428280:S1163L;ENSP00000381982:S1163L	ENSP00000381982:S1163L	S	+	2	0	FER1L6	125145928	0.857000	0.29778	0.975000	0.42487	0.428000	0.31595	2.445000	0.44899	2.319000	0.78375	0.462000	0.41574	TCA		PASS	0.552	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		39	56	39	56	---	---	---	---
TSNARE1	203062	broad.mit.edu	37	8	143381929	143381929	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:143381929T>A	ENST00000307180.3	-	10	1325	c.1208A>T	c.(1207-1209)cAg>cTg	p.Q403L	TSNARE1_ENST00000524325.1_Missense_Mutation_p.Q402L|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.Q403L|TSNARE1_ENST00000519651.1_Missense_Mutation_p.Q184L	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	403					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.Q403L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCCTGCTCCTGGCCCTGCCA	0.617																																						uc003ywk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)CAG>CTG		t-SNARE domain containing 1							73.0	66.0	68.0					8																	143381929		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143381929T>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1208A>T	8.37:g.143381929T>A	ENSP00000303437:p.Gln403Leu					TSNARE1_uc011lju.1_Missense_Mutation_p.Q402L|TSNARE1_uc003ywj.2_Missense_Mutation_p.Q404L|TSNARE1_uc003ywl.3_Missense_Mutation_p.Q184L	p.Q403L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			10	1326	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		403					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.1208A>T	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.309826	0.23821	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	4.76	2.28	0.28536	t-SNARE (1);	0.259707	0.19717	U	0.107671	T	0.19725	0.0474	M	0.76574	2.34	0.21861	N	0.999503	B;B;B;B	0.33694	0.421;0.139;0.421;0.421	B;B;B;B	0.26770	0.073;0.039;0.073;0.073	T	0.19712	-1.0297	10	0.62326	D	0.03	-8.4549	5.2977	0.15760	0.0:0.0942:0.1786:0.7272	.	402;184;403;404	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	L	402;403;403;184	ENSP00000428763:Q402L;ENSP00000303437:Q403L;ENSP00000427770:Q403L;ENSP00000429679:Q184L	ENSP00000303437:Q403L	Q	-	2	0	TSNARE1	143379836	0.997000	0.39634	0.179000	0.23059	0.241000	0.25554	1.194000	0.32174	0.176000	0.19873	0.533000	0.62120	CAG		PASS	0.617	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		28	78	28	78	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143558872	143558872	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:143558872A>T	ENST00000517894.1	+	6	2243	c.1349A>T	c.(1348-1350)gAg>gTg	p.E450V	BAI1_ENST00000323289.5_Missense_Mutation_p.E450V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	450	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E450V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAGGGCCCTGAGAAGCAAACC	0.652																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(1348-1350)GAG>GTG		brain-specific angiogenesis inhibitor 1							44.0	52.0	49.0					8																	143558872		1994	4154	6148	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558872A>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1349A>T	8.37:g.143558872A>T	ENSP00000430945:p.Glu450Val						p.E450V	NM_001702	NP_001693	O14514	BAI1_HUMAN			5	1532	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		450			Extracellular (Potential).|TSP type-1 3.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1349A>T		.	.	.	.	.	.	.	.	.	.	A	20.4	3.980212	0.74474	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.60171	0.21;0.21	4.15	4.15	0.48705	.	0.323529	0.28382	U	0.015551	T	0.61751	0.2372	L	0.49350	1.555	0.43137	D	0.99488	D	0.54601	0.967	P	0.53722	0.733	T	0.62849	-0.6767	10	0.41790	T	0.15	.	12.6379	0.56692	1.0:0.0:0.0:0.0	.	450	E9PBK0	.	V	450	ENSP00000430945:E450V;ENSP00000313046:E450V	ENSP00000313046:E450V	E	+	2	0	BAI1	143555874	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	3.125000	0.50469	1.614000	0.50241	0.454000	0.30748	GAG		PASS	0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		27	67	27	67	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143960537	143960537	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:143960537C>A	ENST00000292427.4	-	2	338	c.306G>T	c.(304-306)caG>caT	p.Q102H	CYP11B1_ENST00000377675.3_Missense_Mutation_p.Q147H|CYP11B1_ENST00000517471.1_Missense_Mutation_p.Q102H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	102					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.Q102H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGCTGTCCACCTGTTGCAGCT	0.617									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(304-306)CAG>CAT		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						212.0	154.0	173.0					8																	143960537		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960537C>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.306G>T	8.37:g.143960537C>A	ENSP00000292427:p.Gln102His					CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.Q102H|CYP11B1_uc010mey.2_Missense_Mutation_p.Q147H	p.Q102H	NM_000497	NP_000488	P15538	C11B1_HUMAN			2	313	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		102					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.306G>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828195	0.32329	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.76448	-0.37;-0.37;-1.02	3.55	2.67	0.31697	.	0.635768	0.13087	N	0.414849	D	0.83202	0.5203	M	0.63843	1.955	0.25259	N	0.989617	D;D;D	0.65815	0.995;0.961;0.99	P;D;D	0.67900	0.873;0.951;0.954	T	0.70306	-0.4908	10	0.56958	D	0.05	.	7.1205	0.25442	0.0:0.8661:0.0:0.1339	.	147;102;102	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	H	102;102;147	ENSP00000292427:Q102H;ENSP00000428043:Q102H;ENSP00000366903:Q147H	ENSP00000292427:Q102H	Q	-	3	2	CYP11B1	143957539	0.006000	0.16342	0.192000	0.23308	0.443000	0.32047	1.160000	0.31761	0.591000	0.29711	0.484000	0.47621	CAG		PASS	0.617	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			35	57	35	57	---	---	---	---
OPLAH	26873	broad.mit.edu	37	8	145106851	145106851	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr8:145106851G>A	ENST00000426825.1	-	26	3669	c.3588C>T	c.(3586-3588)acC>acT	p.T1196T	CTD-3065J16.6_ENST00000528912.1_RNA|OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1196					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.T1195T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCGGCGCTCGGTCAGCACTG	0.771																																						uc003zar.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(3586-3588)ACC>ACT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						3.0	4.0	4.0					8																	145106851		1495	3341	4836	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145106851G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3588C>T	8.37:g.145106851G>A							p.T1196T	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		26	3670	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1196					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.3588C>T																																																																																					PASS	0.771	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		3	5	3	5	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14841455	14841455	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:14841455G>A	ENST00000380880.3	-	10	2654	c.1871C>T	c.(1870-1872)tCa>tTa	p.S624L	FREM1_ENST00000422223.2_Missense_Mutation_p.S624L|FREM1_ENST00000380881.4_Missense_Mutation_p.S625L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	624					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.S625L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGTGGCACTGAAAGATTTGG	0.383																																						uc003zlm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1870-1872)TCA>TTA		FRAS1 related extracellular matrix 1 precursor							54.0	52.0	52.0					9																	14841455		1853	4093	5946	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14841455G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1871C>T	9.37:g.14841455G>A	ENSP00000370262:p.Ser624Leu					FREM1_uc010mic.2_RNA	p.S624L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2461	-			624			CSPG 4.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1871C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369262	0.95900	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.29142	1.58;1.58;1.58	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53947	-0.8366	10	0.32370	T	0.25	-10.4169	20.5568	0.99304	0.0:0.0:1.0:0.0	.	624	Q5H8C1	FREM1_HUMAN	L	625;624;624	ENSP00000370263:S625L;ENSP00000412940:S624L;ENSP00000370262:S624L	ENSP00000370257:S627L	S	-	2	0	FREM1	14831455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.425000	0.97467	2.861000	0.98227	0.655000	0.94253	TCA		PASS	0.383	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		23	26	23	26	---	---	---	---
VCP	7415	broad.mit.edu	37	9	35066808	35066808	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:35066808C>T	ENST00000358901.6	-	4	1204	c.309G>A	c.(307-309)caG>caA	p.Q103Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	103					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.Q103Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGGGCATGGCTGGATGCTGA	0.502																																						uc003zvy.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(307-309)CAG>CAA		valosin-containing protein							169.0	144.0	152.0					9																	35066808		2203	4300	6503	SO:0001819	synonymous_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35066808C>T	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.309G>A	9.37:g.35066808C>T						VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Silent_p.Q58Q	p.Q103Q	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		4	698	-			103					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	c.309G>A	CCDS6573.1																																																																																				PASS	0.502	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		12	122	12	122	---	---	---	---
OR13J1	392309	broad.mit.edu	37	9	35870090	35870090	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:35870090C>T	ENST00000377981.2	-	1	371	c.309G>A	c.(307-309)ctG>ctA	p.L103L		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L103L(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			TGGACAGGCTCAGACACATCT	0.592																																						uc011lph.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(307-309)CTG>CTA		olfactory receptor, family 13, subfamily J,							101.0	99.0	100.0					9																	35870090		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35870090C>T		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.309G>A	9.37:g.35870090C>T							p.L103L	NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	309	-	all_epithelial(49;0.169)		103			Helical; Name=3; (Potential).		B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.309G>A	CCDS35011.1																																																																																				PASS	0.592	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			28	69	28	69	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40716206	40716206	+	lincRNA	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:40716206A>T	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA														p.R120W(1)									GAGAGTTCAGAGGCTGTCGTT	0.453																																						uc010mmk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.							19.0	21.0	21.0					9																	40716206		1579	3297	4876			728495							g.chr9:40716206A>T																													9.37:g.40716206A>T								NR_026801					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	1		+									RNA	SNP	ENST00000432614.1	37	c.683A>T																																																																																					PASS	0.453	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			11	32	11	32	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40774448	40774448	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:40774448C>A	ENST00000602553.1	-	5	1121	c.827G>T	c.(826-828)gGg>gTg	p.G276V	ZNF658_ENST00000377626.3_Missense_Mutation_p.G276V|ZNF658_ENST00000441795.1_Missense_Mutation_p.G274V			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G276V(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAGGATGTCCCATATTCATT	0.358																																						uc004abs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(826-828)GGG>GTG		zinc finger protein 658							166.0	168.0	167.0					9																	40774448		2203	4300	6503	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774448C>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.827G>T	9.37:g.40774448C>A	ENSP00000473484:p.Gly276Val					ZNF658_uc010mmm.1_Missense_Mutation_p.G276V|ZNF658_uc010mmn.1_Missense_Mutation_p.G276V	p.G276V	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	979	-			276					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.827G>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	14.88	2.668078	0.47677	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.07800	3.46;3.16	2.08	2.08	0.27032	.	.	.	.	.	T	0.27241	0.0668	M	0.82923	2.615	0.51767	D	0.999931	D;D	0.71674	0.998;0.998	D;P	0.74023	0.982;0.785	T	0.07404	-1.0774	9	0.66056	D	0.02	.	10.2683	0.43468	0.0:1.0:0.0:0.0	.	276;276	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	V	274;276	ENSP00000408462:G274V;ENSP00000366853:G276V	ENSP00000366853:G276V	G	-	2	0	ZNF658	40764448	0.512000	0.26186	0.009000	0.14445	0.419000	0.31324	1.811000	0.38942	1.509000	0.48786	0.391000	0.25812	GGG		PASS	0.358	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		126	263	126	263	---	---	---	---
GDA	9615	broad.mit.edu	37	9	74828885	74828885	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:74828885G>A	ENST00000358399.3	+	5	649	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	GDA_ENST00000545168.1_Missense_Mutation_p.E112K|GDA_ENST00000376989.3_Missense_Mutation_p.E161K|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.E144K|GDA_ENST00000238018.4_Missense_Mutation_p.E186K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	186					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.E186K(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GACCACTGAGGAATCGATCAA	0.413																																						uc004aiq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(556-558)GAA>AAA		guanine deaminase							126.0	120.0	122.0					9																	74828885		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74828885G>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.556G>A	9.37:g.74828885G>A	ENSP00000351170:p.Glu186Lys					GDA_uc011lse.1_Missense_Mutation_p.E112K|GDA_uc011lsf.1_Missense_Mutation_p.E112K|GDA_uc004air.2_Missense_Mutation_p.E186K|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.E144K|GDA_uc004ait.1_Missense_Mutation_p.E112K	p.E186K	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	5	739	+		Myeloproliferative disorder(762;0.0122)	186					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.556G>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888586	0.52014	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	.	.	.	5.64	5.64	0.86602	Amidohydrolase 1 (1);	0.291939	0.41938	D	0.000799	T	0.56470	0.1987	L	0.37561	1.115	0.47065	D	0.999304	B;B;B	0.16166	0.016;0.013;0.015	B;B;B	0.25759	0.063;0.006;0.016	T	0.48969	-0.8987	9	0.24483	T	0.36	-9.0389	19.288	0.94087	0.0:0.0:1.0:0.0	.	144;186;186	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	K	112;186;161;144;186	.	ENSP00000238018:E186K	E	+	1	0	GDA	74018705	1.000000	0.71417	0.977000	0.42913	0.615000	0.37417	7.120000	0.77153	2.662000	0.90505	0.591000	0.81541	GAA		PASS	0.413	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			12	81	12	81	---	---	---	---
GCNT1	2650	broad.mit.edu	37	9	79118046	79118046	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:79118046A>G	ENST00000376730.4	+	4	1232	c.749A>G	c.(748-750)cAt>cGt	p.H250R	GCNT1_ENST00000442371.1_Missense_Mutation_p.H250R|GCNT1_ENST00000444201.2_Missense_Mutation_p.H250R|GCNT1_ENST00000536223.1_Missense_Mutation_p.H250R	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	250	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.H250R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ATGCCATCCCATAAAGAAGAA	0.433																																						uc010mpf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(748-750)CAT>CGT		beta-1,3-galactosyl-O-glycosyl-glycoprotein							75.0	65.0	68.0					9																	79118046		2203	4300	6503	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79118046A>G	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.749A>G	9.37:g.79118046A>G	ENSP00000365920:p.His250Arg					GCNT1_uc010mpg.2_Missense_Mutation_p.H250R|GCNT1_uc010mph.2_Missense_Mutation_p.H250R|GCNT1_uc004akf.3_Missense_Mutation_p.H250R|GCNT1_uc010mpi.2_Missense_Mutation_p.H250R|GCNT1_uc004akh.3_Missense_Mutation_p.H250R	p.H250R	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			3	1090	+			250			Lumenal (Potential).|Catalytic (By similarity).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.749A>G	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	a	8.904	0.957031	0.18507	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	6.07	6.07	0.98685	.	0.701873	0.15030	N	0.284513	T	0.16727	0.0402	L	0.60957	1.885	0.24449	N	0.994498	B	0.28470	0.213	B	0.32583	0.148	T	0.12372	-1.0550	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	250	Q02742	GCNT1_HUMAN	R	250	ENSP00000440883:H250R;ENSP00000415454:H250R;ENSP00000390703:H250R;ENSP00000365920:H250R	.	H	+	2	0	GCNT1	78307866	0.013000	0.17824	0.442000	0.26870	0.476000	0.33039	2.707000	0.47143	2.326000	0.78906	0.533000	0.62120	CAT		PASS	0.433	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		32	79	32	79	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79319739	79319739	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:79319739T>C	ENST00000376718.3	-	8	7574	c.7451A>G	c.(7450-7452)gAc>gGc	p.D2484G	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D2125G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2484					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.D2484G(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TACTTCCCAGTCAACGTTTGA	0.468											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7450-7452)GAC>GGC		prune homolog 2							72.0	59.0	63.0					9																	79319739		1568	3581	5149	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79319739T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7451A>G	9.37:g.79319739T>C	ENSP00000365908:p.Asp2484Gly		OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1190	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.D2484G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	7575	-			2484					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7451A>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.85|13.85	2.360824|2.360824	0.41801|0.41801	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.46819|.	0.86;0.86|.	5.35|5.35	2.96|2.96	0.34315|0.34315	.|.	0.457684|.	0.20858|.	N|.	0.084416|.	T|.	0.55673|.	0.1935|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B|.	0.15473|.	0.013|.	B|.	0.12156|.	0.007|.	T|.	0.47824|.	-0.9087|.	10|.	0.39692|.	T|.	0.17|.	-4.8584|-4.8584	7.3727|7.3727	0.26810|0.26810	0.0:0.0738:0.1444:0.7817|0.0:0.0738:0.1444:0.7817	.|.	2484|.	Q8WUY3|.	PRUN2_HUMAN|.	G|W	2484;2125;2483|1805	ENSP00000365908:D2484G;ENSP00000397425:D2125G|.	ENSP00000365908:D2484G|.	D|X	-|-	2|3	0|0	PRUNE2|PRUNE2	78509559|78509559	0.969000|0.969000	0.33509|0.33509	0.792000|0.792000	0.32020|0.32020	0.648000|0.648000	0.38561|0.38561	1.085000|1.085000	0.30840|0.30840	0.527000|0.527000	0.28560|0.28560	0.533000|0.533000	0.62120|0.62120	GAC|TGA		PASS	0.468	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		6	13	6	13	---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88247953	88247953	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:88247953C>A	ENST00000357081.3	-	14	1783	c.1639G>T	c.(1639-1641)Gcc>Tcc	p.A547S	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.A507S|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.A559S|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.A385S			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	547					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.A507S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAACCTGGGGCTGTTTGAGAA	0.403																																						uc011ltd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(1639-1641)GCC>TCC		ATP/GTP binding protein 1							119.0	115.0	116.0					9																	88247953		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88247953C>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1639G>T	9.37:g.88247953C>A	ENSP00000349592:p.Ala547Ser					AGTPBP1_uc004aod.3_Missense_Mutation_p.A173S|AGTPBP1_uc011ltc.1_Missense_Mutation_p.A445S|AGTPBP1_uc010mqc.2_Missense_Mutation_p.A507S|AGTPBP1_uc011lte.1_Missense_Mutation_p.A559S	p.A547S	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			13	1672	-			547					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.1639G>T		.	.	.	.	.	.	.	.	.	.	C	2.730	-0.264695	0.05754	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.43294	2.28;2.28;2.26;0.95	5.79	2.61	0.31194	.	0.946990	0.08910	N	0.875957	T	0.25082	0.0609	N	0.19112	0.55	0.19575	N	0.999966	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.13407	0.003;0.002;0.009;0.001	T	0.25813	-1.0121	10	0.08179	T	0.78	-0.8174	8.2482	0.31702	0.1624:0.6858:0.0:0.1518	.	559;547;385;507	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	S	547;507;559;385	ENSP00000349592:A547S;ENSP00000365251:A507S;ENSP00000365277:A559S;ENSP00000402804:A385S	ENSP00000349592:A547S	A	-	1	0	AGTPBP1	87437773	0.572000	0.26668	0.036000	0.18154	0.145000	0.21501	0.997000	0.29731	0.734000	0.32515	-0.262000	0.10625	GCC		PASS	0.403	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		42	124	42	124	---	---	---	---
SHC3	53358	broad.mit.edu	37	9	91653064	91653064	+	Nonsense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:91653064G>C	ENST00000375835.4	-	11	1806	c.1500C>G	c.(1498-1500)taC>taG	p.Y500*	SHC3_ENST00000375831.1_Nonsense_Mutation_p.Y48*|SHC3_ENST00000375830.1_Nonsense_Mutation_p.Y48*	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	500	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)	p.Y500*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TCTCTCCTTGGTACCAAGTCT	0.587																																						uc004aqg.2																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|skin(1)	4						c.(1498-1500)TAC>TAG		src homology 2 domain-containing transforming							203.0	200.0	201.0					9																	91653064		2203	4300	6503	SO:0001587	stop_gained	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91653064G>C	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1500C>G	9.37:g.91653064G>C	ENSP00000364995:p.Tyr500*						p.Y500*	NM_016848	NP_058544	Q92529	SHC3_HUMAN			11	1807	-			500			SH2.		Q5T7I7|Q8TAP2|Q9UCX5	Nonsense_Mutation	SNP	ENST00000375835.4	37	c.1500C>G	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	G	49	15.593515	0.99839	.	.	ENSG00000148082	ENST00000375835;ENST00000375831;ENST00000375830	.	.	.	5.15	3.31	0.37934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2657	4.8452	0.13510	0.3801:0.0:0.6199:0.0	.	.	.	.	X	500;48;48	.	ENSP00000364990:Y48X	Y	-	3	2	SHC3	90842884	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.063000	0.49978	1.542000	0.49330	0.591000	0.81541	TAC		PASS	0.587	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		51	434	51	434	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102607053	102607053	+	Silent	SNP	T	T	A	rs529277354		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:102607053T>A	ENST00000395097.2	+	6	2106	c.1377T>A	c.(1375-1377)acT>acA	p.T459T	NR4A3_ENST00000330847.1_Silent_p.T470T	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	459	Ligand-binding. {ECO:0000255}.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.T470T(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CGGGATTTACTGATCTCCCCA	0.428			T	EWSR1	extraskeletal myxoid chondrosarcoma								T|||	1	0.000199681	0.0	0.0	5008	,	,		21320	0.001		0.0	False		,,,				2504	0.0					uc004baf.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	EWSR1/NR4A3(140)|TAF15/NR4A3(33)	1	Substitution - coding silent(1)		lung(1)	bone(173)	173						c.(1375-1377)ACT>ACA		nuclear receptor subfamily 4, group A, member 3							91.0	85.0	87.0					9																	102607053		2203	4300	6503	SO:0001819	synonymous_variant	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102607053T>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1377T>A	9.37:g.102607053T>A						NR4A3_uc004bag.1_Silent_p.T459T|NR4A3_uc004bai.2_Silent_p.T470T	p.T459T	NM_006981	NP_008912	Q92570	NR4A3_HUMAN			6	2106	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	459			Ligand-binding (Potential).		A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Silent	SNP	ENST00000395097.2	37	c.1377T>A	CCDS6743.1																																																																																				PASS	0.428	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			30	64	30	64	---	---	---	---
OR13F1	138805	broad.mit.edu	37	9	107267167	107267168	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:107267167_107267168CA>AT	ENST00000334726.2	+	1	713_714	c.624_625CA>AT	c.(622-627)ccCAtg>ccATtg	p.M209L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M209L(2)|p.P208P(1)|p.M209V(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCTTCTCCCCATGCCAATGCT	0.441																																						uc011lvm.1																			4	Substitution - Missense(3)|Substitution - coding silent(1)		lung(3)|endometrium(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(622-624)CCC>CCA|c.(625-627)ATG>TTG		olfactory receptor, family 13, subfamily F,																																				SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267167C>A|g.chr9:107267168A>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	Exception_encountered	9.37:g.107267167_107267168delinsAT	ENSP00000334452:p.Met209Leu						p.P208P|p.M209L	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	624|625	+			208|209			Helical; Name=5; (Potential).		Q6IF50	Silent|Missense_Mutation	SNP	ENST00000334726.2	37	c.624C>A|c.625A>T	CCDS35087.1																																																																																				PASS	0.441	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			131	317	131	317	---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617356	111617356	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:111617356G>T	ENST00000374667.3	-	1	1883	c.855C>A	c.(853-855)gaC>gaA	p.D285E		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	285						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.D285E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGAGTTTGCCGTCCGGGAGCT	0.642																																						uc004bdi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(853-855)GAC>GAA		actin-like 7B							46.0	52.0	50.0					9																	111617356		2201	4296	6497	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617356G>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.855C>A	9.37:g.111617356G>T	ENSP00000363799:p.Asp285Glu						p.D285E	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	920	-			285					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.855C>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758818	0.69763	.	.	ENSG00000148156	ENST00000374667	D	0.97752	-4.52	5.24	-2.22	0.06952	.	0.000000	0.40728	N	0.001037	D	0.98645	0.9546	M	0.93328	3.405	0.36139	D	0.846636	D	0.89917	1.0	D	0.91635	0.999	D	0.99751	1.1018	10	0.87932	D	0	.	11.272	0.49144	0.5177:0.0:0.4823:0.0	.	285	Q9Y614	ACL7B_HUMAN	E	285	ENSP00000363799:D285E	ENSP00000363799:D285E	D	-	3	2	ACTL7B	110657177	0.003000	0.15002	0.840000	0.33206	0.945000	0.59286	-1.255000	0.02872	-0.323000	0.08602	0.561000	0.74099	GAC		PASS	0.642	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		46	114	46	114	---	---	---	---
FRRS1L	23732	broad.mit.edu	37	9	111903868	111903868	+	Splice_Site	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:111903868C>A	ENST00000561981.2	-	4	616	c.617G>T	c.(616-618)gGt>gTt	p.G206V		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	206	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.G206V(1)									ATCATCACCACCCTAACATGA	0.413																																						uc004bdw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)GGT>GTT		hypothetical protein LOC23732							72.0	69.0	70.0					9																	111903868		2203	4300	6503	SO:0001630	splice_region_variant	23732					integral to membrane		g.chr9:111903868C>A	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.616-1G>T	9.37:g.111903868C>A							p.G206V	NM_014334	NP_055149	Q9P0K9	CI004_HUMAN			4	617	-			206			DOMON.		Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	c.617G>T	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615013	0.66672	.	.	ENSG00000136805	ENST00000374581	T	0.76448	-1.02	5.2	5.2	0.72013	DOMON domain (3);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86141	0.1581	10	0.66056	D	0.02	-6.0425	18.7619	0.91855	0.0:1.0:0.0:0.0	.	206	Q9P0K9	CI004_HUMAN	V	206	ENSP00000363709:G206V	ENSP00000363709:G206V	G	-	2	0	C9orf4	110943689	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.779000	0.85648	2.426000	0.82243	0.591000	0.81541	GGT		PASS	0.413	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334	Missense_Mutation	37	78	37	78	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114173302	114173302	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:114173302G>A	ENST00000338205.5	-	21	2554	c.2335C>T	c.(2335-2337)Cct>Tct	p.P779S	KIAA0368_ENST00000259335.4_Missense_Mutation_p.P957S|KIAA0368_ENST00000374378.3_5'Flank|RNA5SP294_ENST00000411306.1_RNA			Q5VYK3	ECM29_HUMAN	KIAA0368	785					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.P957S(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCTTGATCAGGGAGGGTGTCA	0.388																																						uc004bfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2869-2871)CCT>TCT		KIAA0368 protein							249.0	240.0	243.0					9																	114173302		1916	4145	6061	SO:0001583	missense	23392							g.chr9:114173302G>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2335C>T	9.37:g.114173302G>A	ENSP00000339889:p.Pro779Ser						p.P957S	NM_001080398	NP_001073867					23	2869	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	G	9.806	1.181834	0.21787	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66815	-0.23	5.54	5.54	0.83059	.	0.140725	0.47093	D	0.000257	T	0.59252	0.2180	L	0.50333	1.59	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.53315	-0.8456	10	0.21540	T	0.41	.	12.7762	0.57451	0.0749:0.0:0.9251:0.0	.	254	B3KXF2	.	S	779;957;254	ENSP00000259335:P957S	ENSP00000259335:P957S	P	-	1	0	KIAA0368	113213123	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	4.608000	0.61141	2.606000	0.88127	0.561000	0.74099	CCT		PASS	0.388	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		161	267	161	267	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	116925043	116925043	+	Silent	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:116925043C>G	ENST00000356083.3	+	2	502	c.111C>G	c.(109-111)gcC>gcG	p.A37A		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	37					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.A37A(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GTCACCTGGCCTCCACCCAAG	0.562																																						uc011lxl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(109-111)GCC>GCG		collagen, type XXVII, alpha 1 precursor							179.0	169.0	172.0					9																	116925043		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116925043C>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.111C>G	9.37:g.116925043C>G							p.A37A	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			2	111	+			37					Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.111C>G	CCDS6802.1																																																																																				PASS	0.562	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		89	166	89	166	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119568076	119568076	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:119568076G>A	ENST00000313400.4	-	13	2331	c.2231C>T	c.(2230-2232)gCt>gTt	p.A744V	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.A740V|ASTN2_ENST00000361209.2_Missense_Mutation_p.A693V			O75129	ASTN2_HUMAN	astrotactin 2	744	EGF-like 3.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.A693V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCCATCAGGAGCCAGTTTGTA	0.483																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(2230-2232)GCT>GTT		astrotactin 2 isoform c							150.0	145.0	147.0					9																	119568076		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119568076G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2231C>T	9.37:g.119568076G>A	ENSP00000314038:p.Ala744Val					ASTN2_uc004bjr.1_Missense_Mutation_p.A740V|ASTN2_uc004bjt.1_Missense_Mutation_p.A693V	p.A744V	NM_198187	NP_937830	O75129	ASTN2_HUMAN			13	2332	-			744			Extracellular (Potential).|EGF-like 3.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.2231C>T		.	.	.	.	.	.	.	.	.	.	G	20.7	4.029810	0.75504	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	5.31	5.31	0.75309	.	0.123299	0.53938	D	0.000060	D	0.97504	0.9183	L	0.58510	1.815	0.58432	D	0.999999	D;D;D	0.69078	0.996;0.997;0.995	P;D;D	0.75020	0.851;0.985;0.966	D	0.97285	0.9920	9	.	.	.	-9.763	18.9844	0.92764	0.0:0.0:1.0:0.0	.	693;744;740	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	V	744;740;467;693	ENSP00000314038:A744V;ENSP00000363108:A740V;ENSP00000363098:A467V;ENSP00000354504:A693V	.	A	-	2	0	ASTN2	118607897	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.049000	0.93837	2.462000	0.83206	0.655000	0.94253	GCT		PASS	0.483	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		97	180	97	180	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119903693	119903693	+	Silent	SNP	G	G	C	rs115011238	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:119903693G>C	ENST00000313400.4	-	4	1180	c.1080C>G	c.(1078-1080)cgC>cgG	p.R360R	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.R360R|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	360					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCGTGTTAGCGCGGAAACTCT	0.587																																						uc004bjs.1																			0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1078-1080)CGC>CGG		astrotactin 2 isoform c							103.0	85.0	91.0					9																	119903693		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119903693G>C	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1080C>G	9.37:g.119903693G>C						ASTN2_uc004bjr.1_Silent_p.R360R|ASTN2_uc004bjt.1_Intron	p.R360R	NM_198187	NP_937830	O75129	ASTN2_HUMAN			4	1181	-			360			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1080C>G																																																																																					PASS	0.587	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		36	115	36	115	---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128113072	128113072	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:128113072C>G	ENST00000495955.1	+	23	3834	c.3544C>G	c.(3544-3546)Caa>Gaa	p.Q1182E	GAPVD1_ENST00000265956.4_Missense_Mutation_p.Q1156E|GAPVD1_ENST00000312123.9_Missense_Mutation_p.Q1143E|GAPVD1_ENST00000394104.2_Missense_Mutation_p.Q1182E|GAPVD1_ENST00000297933.6_Missense_Mutation_p.Q1164E|GAPVD1_ENST00000394083.2_Missense_Mutation_p.Q1116E|GAPVD1_ENST00000394105.2_Missense_Mutation_p.Q1191E|GAPVD1_ENST00000470056.1_Missense_Mutation_p.Q1137E			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1182					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.Q1191E(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGCTCAACTTCAAGAAACAAT	0.358																																						uc010mwx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3544-3546)CAA>GAA		GTPase activating protein and VPS9 domains 1							112.0	106.0	108.0					9																	128113072		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128113072C>G		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3544C>G	9.37:g.128113072C>G	ENSP00000419063:p.Gln1182Glu					GAPVD1_uc004bpp.2_Missense_Mutation_p.Q1191E|GAPVD1_uc004bpq.2_Missense_Mutation_p.Q1164E|GAPVD1_uc004bpr.2_Missense_Mutation_p.Q1143E|GAPVD1_uc004bps.2_Missense_Mutation_p.Q1137E|GAPVD1_uc004bpt.2_Missense_Mutation_p.Q197E	p.Q1182E	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			23	3870	+			1182					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.3544C>G		.	.	.	.	.	.	.	.	.	.	C	25.3	4.623044	0.87460	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	L	0.53249	1.67	0.80722	D	1	P;P;P;P;P;P	0.50617	0.83;0.846;0.937;0.894;0.894;0.894	B;B;P;P;P;P	0.48704	0.383;0.196;0.587;0.587;0.587;0.587	T	0.54397	-0.8300	9	0.14656	T	0.56	.	19.0052	0.92848	0.0:1.0:0.0:0.0	.	1182;197;1137;1143;1164;1191	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	E	1137;1191;1182;1156;1116;1182;1164;1143	.	ENSP00000265956:Q1156E	Q	+	1	0	GAPVD1	127152893	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.732000	0.93576	0.555000	0.69702	CAA		PASS	0.358	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			17	159	17	159	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135778003	135778003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:135778003G>A	ENST00000298552.3	-	18	2601	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.Q794*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.Q743*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	794					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.Q794*(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGTAATTCCTGGCTCTGGTTG	0.537			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cca.2			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Nonsense(1)|Unknown(1)	p.?(1)	lung(1)|bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(2380-2382)CAG>TAG		tuberous sclerosis 1 protein isoform 1							226.0	203.0	210.0					9																	135778003		2203	4300	6503	SO:0001587	stop_gained	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135778003G>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2380C>T	9.37:g.135778003G>A	ENSP00000298552:p.Gln794*		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1620	TSC1_uc004ccb.3_Nonsense_Mutation_p.Q793*|TSC1_uc011mcq.1_Nonsense_Mutation_p.Q743*|TSC1_uc011mcr.1_Intron	p.Q794*	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	18	2614	-			794			Potential.		B7Z897|Q5VVN5	Nonsense_Mutation	SNP	ENST00000298552.3	37	c.2380C>T	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	42	9.449866	0.99174	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-17.0765	18.4925	0.90853	0.0:0.0:1.0:0.0	.	.	.	.	X	794;794;743	.	ENSP00000298552:Q794X	Q	-	1	0	TSC1	134767824	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.319000	0.96338	2.607000	0.88179	0.561000	0.74099	CAG		PASS	0.537	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			18	244	18	244	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139391110	139391110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:139391110G>A	ENST00000277541.6	-	34	7156	c.7081C>T	c.(7081-7083)Cag>Tag	p.Q2361*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2361					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q2361*(1)|p.Q2362*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCATCATCTGGGACAGGGCG	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Nonsense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(7081-7083)CAG>TAG		notch1 preproprotein							48.0	54.0	52.0					9																	139391110		2036	4186	6222	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391110G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7081C>T	9.37:g.139391110G>A	ENSP00000277541:p.Gln2361*	HNSCC(8;0.001)					p.Q2361*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7081	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2361			Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.7081C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	47	13.542746	0.99748	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.31	5.31	0.75309	.	0.130485	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.3173	0.90225	0.0:0.0:1.0:0.0	.	.	.	.	X	2361	.	ENSP00000277541:Q2361X	Q	-	1	0	NOTCH1	138510931	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.650000	0.98490	2.644000	0.89710	0.563000	0.77884	CAG		PASS	0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		32	171	32	171	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139915885	139915885	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:139915885C>T	ENST00000371605.3	-	7	1000	c.853G>A	c.(853-855)Gag>Aag	p.E285K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E286K|ABCA2_ENST00000265662.5_Missense_Mutation_p.E286K|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	285					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.E286K(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTCCGGAGCTCAGCAGACAGC	0.672																																						uc011mem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(853-855)GAG>AAG		ATP-binding cassette, sub-family A, member 2							27.0	37.0	33.0					9																	139915885		2186	4292	6478	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139915885C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.853G>A	9.37:g.139915885C>T	ENSP00000360666:p.Glu285Lys					ABCA2_uc011mel.1_Missense_Mutation_p.E286K|ABCA2_uc004ckl.1_Missense_Mutation_p.E216K|ABCA2_uc004ckm.1_Missense_Mutation_p.E316K|ABCA2_uc004cko.1_Missense_Mutation_p.E62K|ABCA2_uc010nca.2_Missense_Mutation_p.E216K	p.E285K	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	7	1001	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	285					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.853G>A		.	.	.	.	.	.	.	.	.	.	c	16.25	3.071094	0.55646	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.88431	-2.38;-2.38;-2.38	3.94	3.94	0.45596	.	27.869900	0.00508	U	0.000173	D	0.89873	0.6841	L	0.29908	0.895	0.38914	D	0.957599	D;P;D	0.63880	0.993;0.631;0.993	P;B;D	0.70935	0.829;0.223;0.971	T	0.81688	-0.0819	10	0.06494	T	0.89	.	8.3895	0.32520	0.0:0.751:0.1577:0.0913	.	285;315;316	Q9BZC7;E7EU84;E7ETC3	ABCA2_HUMAN;.;.	K	286;285;316;286	ENSP00000265662:E286K;ENSP00000360666:E285K;ENSP00000344155:E286K	ENSP00000265662:E286K	E	-	1	0	ABCA2	139035706	1.000000	0.71417	0.773000	0.31616	0.033000	0.12548	5.009000	0.63998	1.735000	0.51646	0.197000	0.17608	GAG		PASS	0.672	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		8	67	8	67	---	---	---	---
EXD3	54932	broad.mit.edu	37	9	140245774	140245774	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:140245774C>T	ENST00000340951.4	-	13	1575	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	EXD3_ENST00000342129.4_Silent_p.K140K	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0								p.K460K(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						ACTCACCCAGCTTGGTGATAG	0.677																																						uc004cmp.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1378-1380)AAG>AAA		exonuclease 3'-5' domain containing 3							17.0	22.0	20.0					9																	140245774		1883	4097	5980	SO:0001819	synonymous_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140245774C>T		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1380G>A	9.37:g.140245774C>T						C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Silent_p.K140K|EXD3_uc004cmq.1_RNA	p.K460K	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN			13	1576	-			460					Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	c.1380G>A	CCDS48066.1																																																																																				PASS	0.677	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		16	26	16	26	---	---	---	---
ENTPD8	377841	broad.mit.edu	37	9	140332424	140332424	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:140332424A>C	ENST00000472938.1	-	2	255	c.239T>G	c.(238-240)gTg>gGg	p.V80G	ENTPD8_ENST00000371506.2_Missense_Mutation_p.V80G|ENTPD8_ENST00000344119.2_Missense_Mutation_p.V80G			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	80					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.V80G(2)		biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTAACCTTCCACCTGGCAGGC	0.617																																						uc004cmw.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(238-240)GTG>GGG		ectonucleoside triphosphate diphosphohydrolase 8							53.0	58.0	56.0					9																	140332424		2202	4300	6502	SO:0001583	missense	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140332424A>C	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.239T>G	9.37:g.140332424A>C	ENSP00000420531:p.Val80Gly					C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.V80G|ENTPD8_uc004cmy.2_Missense_Mutation_p.V80G	p.V80G	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	3	423	-	all_cancers(76;0.0926)		80			Extracellular (Potential).		A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.239T>G	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437803	0.62955	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938;ENST00000493135	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.3	0.575	0.17374	.	0.298816	0.25566	N	0.029788	T	0.36331	0.0963	M	0.88906	2.99	0.58432	D	0.999999	D;D	0.63046	0.987;0.992	P;D	0.70487	0.824;0.969	T	0.10776	-1.0615	10	0.87932	D	0	-6.1836	7.7584	0.28938	0.736:0.0:0.264:0.0	.	80;80	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	G	80;80;80;67	ENSP00000344089:V80G;ENSP00000360561:V80G;ENSP00000420531:V80G;ENSP00000420099:V67G	ENSP00000344089:V80G	V	-	2	0	ENTPD8	139452245	0.009000	0.17119	0.959000	0.39883	0.965000	0.64279	0.864000	0.27926	-0.046000	0.13446	0.459000	0.35465	GTG		PASS	0.617	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		21	118	21	118	---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140712552	140712552	+	Nonsense_Mutation	SNP	C	C	T	rs121918301		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr9:140712552C>T	ENST00000460843.1	+	25	3529	c.3502C>T	c.(3502-3504)Cga>Tga	p.R1168*		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1168	Interaction with histone H3.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.R1137*(1)|p.R1168*(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGCCGACGTTCGAGAGGAAGA	0.517																																						uc011mfc.1																			2	Substitution - Nonsense(2)		lung(2)	breast(2)|pancreas(1)	3	GRCh37	CM062590	EHMT1	M	rs121918301	c.(3502-3504)CGA>TGA		euchromatic histone-lysine N-methyltransferase 1							166.0	150.0	155.0					9																	140712552		2203	4300	6503	SO:0001587	stop_gained	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140712552C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3502C>T	9.37:g.140712552C>T	ENSP00000417980:p.Arg1168*					EHMT1_uc004coe.2_Nonsense_Mutation_p.R73*	p.R1168*	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	25	3539	+	all_cancers(76;0.164)		1168			Interaction with histone H3.|SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Nonsense_Mutation	SNP	ENST00000460843.1	37	c.3502C>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	37	6.254734	0.97417	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	.	.	.	5.26	3.26	0.37387	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2588	0.66070	0.2684:0.7315:0.0:0.0	.	.	.	.	X	1137;1168	.	ENSP00000360453:R1137X	R	+	1	2	EHMT1	139832373	0.990000	0.36364	0.892000	0.35008	0.208000	0.24298	2.814000	0.48010	1.320000	0.45209	0.462000	0.41574	CGA		PASS	0.517	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		68	131	68	131	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25464821	25464821	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr10:25464821C>A	ENST00000376351.3	+	1	831	c.472C>A	c.(472-474)Cag>Aag	p.Q158K	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	158					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q158K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGATTGGTACCAGGCGCTGGT	0.627																																						uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(472-474)CAG>AAG		G protein-coupled receptor 158 precursor							74.0	72.0	72.0					10																	25464821		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464821C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.472C>A	10.37:g.25464821C>A	ENSP00000365529:p.Gln158Lys					LOC100128811_uc010qde.1_Missense_Mutation_p.W44L	p.Q158K	NM_020752	NP_065803	Q5T848	GP158_HUMAN			1	532	+			158			Extracellular (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.472C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345193	0.41498	.	.	ENSG00000151025	ENST00000376351	T	0.77098	-1.07	4.82	4.82	0.62117	.	0.390921	0.24074	N	0.041788	T	0.73087	0.3542	L	0.54323	1.7	0.37464	D	0.915331	B	0.25521	0.128	B	0.29353	0.101	T	0.73591	-0.3934	10	0.41790	T	0.15	.	11.5502	0.50716	0.0:0.9183:0.0:0.0817	.	158	Q5T848	GP158_HUMAN	K	158	ENSP00000365529:Q158K	ENSP00000365529:Q158K	Q	+	1	0	GPR158	25504827	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.649000	0.54417	2.510000	0.84645	0.467000	0.42956	CAG		PASS	0.627	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		45	116	45	116	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316850	30316850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr10:30316850G>A	ENST00000375377.1	-	3	2328	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	743					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.Q743*(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTGGCCTCTGTTTGTGATCA	0.582																																						uc001iux.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(2227-2229)CAG>TAG		hypothetical protein LOC57608							52.0	54.0	53.0					10																	30316850		2119	4244	6363	SO:0001587	stop_gained	57608							g.chr10:30316850G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2227C>T	10.37:g.30316850G>A	ENSP00000364526:p.Gln743*					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Nonsense_Mutation_p.Q605*|KIAA1462_uc009xle.1_Nonsense_Mutation_p.Q743*	p.Q743*	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2286	-			743					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Nonsense_Mutation	SNP	ENST00000375377.1	37	c.2227C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	38	7.158318	0.98103	.	.	ENSG00000165757	ENST00000375377	.	.	.	5.5	2.58	0.30949	.	1.101860	0.06674	N	0.766769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-11.894	2.403	0.04406	0.1357:0.302:0.4078:0.1545	.	.	.	.	X	743	.	ENSP00000364526:Q743X	Q	-	1	0	KIAA1462	30356856	0.001000	0.12720	0.471000	0.27229	0.216000	0.24613	0.918000	0.28678	1.307000	0.44944	0.561000	0.74099	CAG		PASS	0.582	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		34	75	34	75	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809552	31809552	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr10:31809552A>T	ENST00000320985.10	+	7	1399	c.1289A>T	c.(1288-1290)gAg>gTg	p.E430V	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.E410V|ZEB1_ENST00000446923.2_Missense_Mutation_p.E414V|ZEB1_ENST00000361642.5_Missense_Mutation_p.E431V|ZEB1_ENST00000542815.3_Missense_Mutation_p.E363V			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	430					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E430V(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAAGTGTTGGAGAATAATCAA	0.388																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(1288-1290)GAG>GTG		zinc finger E-box binding homeobox 1 isoform b							75.0	72.0	73.0					10																	31809552		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809552A>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1289A>T	10.37:g.31809552A>T	ENSP00000319248:p.Glu430Val					ZEB1_uc001ivr.3_Missense_Mutation_p.E212V|ZEB1_uc010qee.1_Missense_Mutation_p.E212V|ZEB1_uc010qef.1_Missense_Mutation_p.E212V|ZEB1_uc009xlj.1_Missense_Mutation_p.E356V|ZEB1_uc010qeg.1_Missense_Mutation_p.E289V|ZEB1_uc009xlk.1_Missense_Mutation_p.E212V|ZEB1_uc001ivt.3_Missense_Mutation_p.E212V|ZEB1_uc001ivu.3_Missense_Mutation_p.E431V|ZEB1_uc001ivv.3_Missense_Mutation_p.E410V|ZEB1_uc010qeh.1_Missense_Mutation_p.E363V|ZEB1_uc009xlo.1_Missense_Mutation_p.E413V|ZEB1_uc009xlp.2_Missense_Mutation_p.E414V	p.E430V	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	1352	+		Prostate(175;0.0156)	430					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1289A>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794761	0.70452	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000004	D	0.86781	0.6015	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.992;1.0;0.999;1.0;0.999;0.992;0.999;1.0	D;D;D;D;D;D;D;D	0.91635	0.958;0.999;0.941;0.973;0.957;0.909;0.957;0.973	D	0.87847	0.2655	10	0.87932	D	0	-22.5942	16.5764	0.84681	1.0:0.0:0.0:0.0	.	363;430;414;430;430;410;431;430	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	V	212;430;431;430;363;430;410;289;321;414	ENSP00000444282:E212V;ENSP00000354487:E431V;ENSP00000444891:E363V;ENSP00000319248:E430V;ENSP00000391612:E414V	ENSP00000319248:E430V	E	+	2	0	ZEB1	31849558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.771000	0.74996	2.371000	0.80710	0.533000	0.62120	GAG		PASS	0.388	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		27	38	27	38	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43127796	43127796	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr10:43127796C>A	ENST00000359467.3	-	3	215	c.101G>T	c.(100-102)aGg>aTg	p.R34M	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATACAGAGCCCTCTGACTAGG	0.458																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)AGG>ATG		zinc finger protein 33B							76.0	77.0	76.0					10																	43127796		2203	4297	6500	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43127796C>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.101G>T	10.37:g.43127796C>A	ENSP00000352444:p.Arg34Met					ZNF33B_uc009xmg.1_Missense_Mutation_p.R34M|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Translation_Start_Site	p.R34M	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			3	216	-			34			KRAB.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.101G>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587180	0.28268	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.03035	4.07	1.58	-0.413	0.12363	Krueppel-associated box (4);	.	.	.	.	T	0.13884	0.0336	M	0.86864	2.845	0.09310	N	1	D;D	0.67145	0.996;0.993	P;P	0.62649	0.905;0.866	T	0.07654	-1.0761	9	0.59425	D	0.04	.	4.2379	0.10634	0.0:0.6173:0.0:0.3827	.	34;34	Q3B799;Q06732	.;ZN33B_HUMAN	M	34	ENSP00000352444:R34M	ENSP00000352444:R34M	R	-	2	0	ZNF33B	42447802	0.080000	0.21391	0.087000	0.20705	0.835000	0.47333	0.054000	0.14205	-0.124000	0.11724	-0.512000	0.04463	AGG		PASS	0.458	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		22	57	22	57	---	---	---	---
RHOBTB1	9886	broad.mit.edu	37	10	62648494	62648494	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr10:62648494C>A	ENST00000337910.5	-	6	1269	c.932G>T	c.(931-933)tGt>tTt	p.C311F	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.C311F	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	311	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.C311F(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTCTTTCTCACAGGCTCCTTC	0.483																																						uc001jli.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(931-933)TGT>TTT		Rho-related BTB domain containing 1							61.0	68.0	65.0					10																	62648494		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648494C>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.932G>T	10.37:g.62648494C>A	ENSP00000338671:p.Cys311Phe					RHOBTB1_uc001jlh.2_Missense_Mutation_p.C311F|RHOBTB1_uc001jlj.2_Missense_Mutation_p.C311F|RHOBTB1_uc001jlk.2_Missense_Mutation_p.C311F|RHOBTB1_uc009xpe.1_Missense_Mutation_p.C249F|RHOBTB1_uc001jll.2_Missense_Mutation_p.C61F	p.C311F	NM_014836	NP_055651	O94844	RHBT1_HUMAN			7	1370	-	Prostate(12;0.0112)		311			BTB 1.			Missense_Mutation	SNP	ENST00000337910.5	37	c.932G>T	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	6.617	0.482187	0.12581	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.14766	2.48;2.48	5.91	4.02	0.46733	BTB/POZ-like (2);BTB/POZ fold (1);	0.443772	0.25202	N	0.032361	T	0.19327	0.0464	L	0.51422	1.61	0.35749	D	0.819296	B	0.18610	0.029	B	0.36134	0.218	T	0.11299	-1.0593	10	0.45353	T	0.12	.	13.2583	0.60091	0.1273:0.7505:0.1222:0.0	.	311	O94844	RHBT1_HUMAN	F	311	ENSP00000350595:C311F;ENSP00000338671:C311F	ENSP00000338671:C311F	C	-	2	0	RHOBTB1	62318500	0.837000	0.29446	0.743000	0.31040	0.599000	0.36880	2.660000	0.46749	0.803000	0.34113	-0.488000	0.04728	TGT		PASS	0.483	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			37	71	37	71	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95892039	95892039	+	Missense_Mutation	SNP	G	G	T	rs201727715		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr10:95892039G>T	ENST00000371380.3	+	2	1550	c.1315G>T	c.(1315-1317)Ggt>Tgt	p.G439C	PLCE1_ENST00000371375.1_Missense_Mutation_p.G131C|PLCE1_ENST00000371385.3_Missense_Mutation_p.G131C|PLCE1_ENST00000260766.3_Missense_Mutation_p.G439C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	439					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.G439C(2)|p.G131C(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATAAGCGTTGGTCCATGCTT	0.488																																						uc001kjk.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(1)	3						c.(1315-1317)GGT>TGT		phospholipase C, epsilon 1 isoform 1							150.0	154.0	153.0					10																	95892039		2094	4210	6304	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95892039G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1315G>T	10.37:g.95892039G>T	ENSP00000360431:p.Gly439Cys					PLCE1_uc010qnx.1_Missense_Mutation_p.G439C|PLCE1_uc001kjm.2_Missense_Mutation_p.G131C	p.G439C	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			3	1949	+		Colorectal(252;0.0458)	439					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1315G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516519	0.27123	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.41	3.5	0.40072	Ras guanine nucleotide exchange factor, domain (1);	0.639221	0.14348	N	0.325298	T	0.34745	0.0908	N	0.24115	0.695	0.26949	N	0.966064	D;D;D	0.67145	0.993;0.996;0.993	P;P;P	0.59288	0.628;0.855;0.72	T	0.11036	-1.0604	10	0.87932	D	0	.	10.1651	0.42875	0.1627:0.0:0.8373:0.0	.	439;131;439	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	C	439;439;131;131	ENSP00000260766:G439C;ENSP00000360431:G439C;ENSP00000360438:G131C;ENSP00000360426:G131C	ENSP00000260766:G439C	G	+	1	0	PLCE1	95882029	0.090000	0.21635	0.540000	0.28089	0.002000	0.02628	0.464000	0.21988	1.198000	0.43158	0.563000	0.77884	GGT		PASS	0.488	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		36	66	36	66	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118401632	118401632	+	RNA	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr10:118401632C>A	ENST00000298771.7	+	0	1210				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.S394S(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TCAGAGGATCCCTCAAACCAG	0.343																																						uc001lcq.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(1186-1188)TCC>TCA		pancreatic lipase-related protein 2							45.0	43.0	44.0					10																	118401632		1868	4091	5959			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118401632C>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118401632C>A							p.S396S	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	15	1211	+			395			PLAT.		A8K627|Q6IB55	Silent	SNP	ENST00000298771.7	37	c.1188C>A																																																																																					PASS	0.343	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		5	6	5	6	---	---	---	---
KCNQ1	3784	broad.mit.edu	37	11	2591910	2591910	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:2591910C>A	ENST00000155840.5	+	3	638	c.530C>A	c.(529-531)tCc>tAc	p.S177Y	KCNQ1_ENST00000335475.5_Missense_Mutation_p.S50Y	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	177					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.S177Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CGCCTCTGGTCCGCCGGCTGC	0.657																																						uc001lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(529-531)TCC>TAC		potassium voltage-gated channel, KQT-like	Bepridil(DB01244)|Indapamide(DB00808)						83.0	74.0	77.0					11																	2591910		2201	4299	6500	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2591910C>A	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.530C>A	11.37:g.2591910C>A	ENSP00000155840:p.Ser177Tyr					KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.2_Missense_Mutation_p.S50Y	p.S177Y	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	3	638	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	177			Cytoplasmic (Potential).		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.530C>A	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551451	0.86127	.	.	ENSG00000053918	ENST00000496887;ENST00000155840;ENST00000335475	D;D;D	0.98567	-5.0;-5.0;-5.0	4.4	4.4	0.53042	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98883	0.9622	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.99521	1.0958	10	0.87932	D	0	-12.1949	16.0646	0.80863	0.0:1.0:0.0:0.0	.	50;177	Q14D14;P51787	.;KCNQ1_HUMAN	Y	90;177;50	ENSP00000434560:S90Y;ENSP00000155840:S177Y;ENSP00000334497:S50Y	ENSP00000155840:S177Y	S	+	2	0	KCNQ1	2548486	1.000000	0.71417	0.934000	0.37439	0.839000	0.47603	5.412000	0.66392	2.446000	0.82766	0.478000	0.44815	TCC		PASS	0.657	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		11	33	11	33	---	---	---	---
OR52B4	143496	broad.mit.edu	37	11	4389418	4389418	+	Silent	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:4389418G>C	ENST00000408920.2	-	1	198	c.108C>G	c.(106-108)tcC>tcG	p.S36S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	36					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S36S(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGTGACATAGGAAATGAAGA	0.522																																						uc010qye.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)TCC>TCG		olfactory receptor, family 52, subfamily B,							64.0	67.0	66.0					11																	4389418		2080	4225	6305	SO:0001819	synonymous_variant	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389418G>C	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.108C>G	11.37:g.4389418G>C							p.S36S	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	108	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	36			Helical; Name=1; (Potential).		A6NP68|Q6IFK6	Silent	SNP	ENST00000408920.2	37	c.108C>G	CCDS41609.1																																																																																				PASS	0.522	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		25	43	25	43	---	---	---	---
OR51F1	256892	broad.mit.edu	37	11	4790942	4790942	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:4790942G>T	ENST00000380383.1	-	1	226	c.227C>A	c.(226-228)tCa>tAa	p.S76*	OR51F1_ENST00000343430.3_Nonsense_Mutation_p.S69*|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S69*(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCAGTGGCTGATAGCCTGAA	0.448																																						uc010qyl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(205-207)TCA>TAA		olfactory receptor, family 51, subfamily F,							71.0	66.0	68.0					11																	4790942		2201	4298	6499	SO:0001587	stop_gained	256892					integral to membrane	olfactory receptor activity	g.chr11:4790942G>T	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.227C>A	11.37:g.4790942G>T	ENSP00000369744:p.Ser76*						p.S69*	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	206	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	69						Nonsense_Mutation	SNP	ENST00000380383.1	37	c.206C>A		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709077	0.68615	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	.	.	.	4.81	4.81	0.61882	.	0.164575	0.28901	N	0.013780	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.601	0.84815	0.0:0.0:1.0:0.0	.	.	.	.	X	69;76	.	ENSP00000345163:S69X	S	-	2	0	OR51F1	4747518	0.975000	0.34042	0.569000	0.28460	0.717000	0.41224	6.526000	0.73799	2.506000	0.84524	0.585000	0.79938	TCA		PASS	0.448	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		7	33	7	33	---	---	---	---
HBD	3045	broad.mit.edu	37	11	5255610	5255610	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:5255610T>G	ENST00000380299.3	-	1	268	c.54A>C	c.(52-54)aaA>aaC	p.K18N	HBD_ENST00000292901.3_Missense_Mutation_p.K18N	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	18					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.K18N(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACGTTCACTTTGCCCCACA	0.502																																						uc001maf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(52-54)AAA>AAC		delta globin							181.0	152.0	162.0					11																	5255610		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255610T>G	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.54A>C	11.37:g.5255610T>G	ENSP00000369654:p.Lys18Asn						p.K18N	NM_000519	NP_000510	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	249	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	18					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.54A>C	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.203446	0.58234	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000417377;ENST00000429817	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	4.61	0.39	0.16275	Globin-like (1);Globin, structural domain (1);	0.139370	0.64402	D	0.000005	D	0.93719	0.7993	M	0.90483	3.12	0.41571	D	0.988681	D	0.76494	0.999	D	0.74674	0.984	D	0.91810	0.5459	10	0.87932	D	0	0.0211	7.9517	0.30019	0.0:0.5635:0.0:0.4365	.	18	P02042	HBD_HUMAN	N	18	ENSP00000292901:K18N;ENSP00000369654:K18N;ENSP00000414741:K18N;ENSP00000393810:K18N	ENSP00000292901:K18N	K	-	3	2	HBD	5212186	0.747000	0.28283	0.004000	0.12327	0.043000	0.13939	0.880000	0.28159	0.015000	0.14971	-0.285000	0.09966	AAA		PASS	0.502	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		35	145	35	145	---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862608	5862608	+	Missense_Mutation	SNP	G	G	A	rs186181055		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:5862608G>A	ENST00000329322.5	-	1	519	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.R178C	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R178C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATGATACGATGTCCACAG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		21065	0.0		0.001	False		,,,				2504	0.0					uc010qzq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(520-522)CGT>TGT		olfactory receptor, family 52, subfamily E,							149.0	139.0	142.0					11																	5862608		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862608G>A	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.520C>T	11.37:g.5862608G>A	ENSP00000328878:p.Arg174Cys					TRIM5_uc001mbq.1_Intron	p.R174C	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	520	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	174			Extracellular (Potential).		Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.520C>T	CCDS53597.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.072	-0.412888	0.04799	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00137	8.68;8.68	3.45	-5.15	0.02866	GPCR, rhodopsin-like superfamily (1);	1.311040	0.05071	N	0.481710	T	0.00144	0.0004	L	0.41906	1.305	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.24548	-1.0157	10	0.66056	D	0.02	.	5.4423	0.16515	0.2305:0.0:0.4678:0.3017	.	174	Q96RD3	O52E6_HUMAN	C	174;178	ENSP00000328878:R174C;ENSP00000369279:R178C	ENSP00000328878:R174C	R	-	1	0	OR52E6	5819184	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.571000	0.00913	-2.303000	0.00656	-1.183000	0.01708	CGT		PASS	0.478	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		58	134	58	134	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7982683	7982683	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:7982683C>A	ENST00000328600.2	-	2	637	c.476G>T	c.(475-477)gGg>gTg	p.G159V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	159					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.G159V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGCTTTTCCCCTGAATCAAA	0.587																																						uc001mfv.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(475-477)GGG>GTG		NLR family, pyrin domain containing 10							57.0	57.0	57.0					11																	7982683		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982683C>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.476G>T	11.37:g.7982683C>A	ENSP00000327763:p.Gly159Val						p.G159V	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	493	-			159					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.476G>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543527	0.45280	.	.	ENSG00000182261	ENST00000328600	T	0.79845	-1.31	5.07	0.211	0.15236	.	0.647839	0.12858	N	0.433399	T	0.67832	0.2935	L	0.27053	0.805	0.09310	N	1	P	0.46859	0.885	P	0.47626	0.552	T	0.58601	-0.7608	10	0.44086	T	0.13	.	0.5617	0.00680	0.194:0.3614:0.1899:0.2548	.	159	Q86W26	NAL10_HUMAN	V	159	ENSP00000327763:G159V	ENSP00000327763:G159V	G	-	2	0	NLRP10	7939259	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.448000	0.06820	0.212000	0.20703	-0.169000	0.13324	GGG		PASS	0.587	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		29	74	29	74	---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8161675	8161675	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:8161675C>T	ENST00000309737.6	-	2	189	c.190G>A	c.(190-192)Ggg>Agg	p.G64R	RIC3_ENST00000343202.4_Missense_Mutation_p.G64R|RIC3_ENST00000539720.1_Missense_Mutation_p.G15R|RIC3_ENST00000530060.1_5'Flank|RIC3_ENST00000425599.2_Missense_Mutation_p.G64R|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000419822.2_Missense_Mutation_p.G64R			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	64					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G64R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		AAACGAGCCCCAGGAGTCTGG	0.507																																						uc001mgd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(190-192)GGG>AGG		resistance to inhibitors of cholinesterase 3							81.0	83.0	83.0					11																	8161675		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8161675C>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.190G>A	11.37:g.8161675C>T	ENSP00000308820:p.Gly64Arg					RIC3_uc001mgb.2_5'Flank|RIC3_uc001mgc.2_Missense_Mutation_p.G64R|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.G14R|RIC3_uc010rbm.1_Missense_Mutation_p.G64R|RIC3_uc009yfm.2_Missense_Mutation_p.G64R|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.3_Missense_Mutation_p.G64R	p.G64R	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	2	244	-			64			Lumenal (Potential).		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.190G>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951557	0.73787	.	.	ENSG00000166405	ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450;ENST00000419822	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.75	4.84	0.62591	.	0.082416	0.50627	D	0.000119	T	0.51550	0.1681	M	0.72894	2.215	0.80722	D	1	D;D;P;D;D	0.76494	0.968;0.999;0.879;0.996;0.996	P;D;P;D;D	0.65987	0.805;0.94;0.668;0.931;0.931	T	0.52749	-0.8534	10	0.66056	D	0.02	-18.1747	13.0625	0.59015	0.0:0.9203:0.0:0.0797	.	64;64;64;64;64	B7Z1U4;B0B1U0;Q7Z5B4-2;Q7Z5B4;Q7Z5B4-5	.;.;.;RIC3_HUMAN;.	R	64;64;64;15;64;64;64	ENSP00000344904:G64R;ENSP00000308820:G64R;ENSP00000443871:G15R;ENSP00000395320:G64R;ENSP00000431658:G64R;ENSP00000404415:G64R	ENSP00000308820:G64R	G	-	1	0	RIC3	8118251	0.002000	0.14202	0.999000	0.59377	0.799000	0.45148	1.251000	0.32862	2.701000	0.92244	0.650000	0.86243	GGG		PASS	0.507	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		32	91	32	91	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9228258	9228258	+	Missense_Mutation	SNP	C	C	A	rs375955901		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:9228258C>A	ENST00000328194.3	-	3	573	c.253G>T	c.(253-255)Gta>Tta	p.V85L	DENND5A_ENST00000530044.1_Missense_Mutation_p.V85L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	85	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V85L(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCCATTCTACGTTCTCAGGA	0.348																																						uc001mhl.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(253-255)GTA>TTA		RAB6 interacting protein 1							209.0	191.0	197.0					11																	9228258		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9228258C>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.253G>T	11.37:g.9228258C>A	ENSP00000328524:p.Val85Leu					DENND5A_uc010rbw.1_Missense_Mutation_p.V85L|DENND5A_uc010rbx.1_RNA	p.V85L	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			3	508	-			85			UDENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.253G>T	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657599	0.67586	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.41758	0.99;0.99	5.5	5.5	0.81552	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	L	0.57536	1.79	0.80722	D	1	B;B	0.20887	0.049;0.011	B;B	0.28232	0.087;0.053	T	0.30592	-0.9973	10	0.23302	T	0.38	.	19.4004	0.94627	0.0:1.0:0.0:0.0	.	85;85	E9PS91;Q6IQ26	.;DEN5A_HUMAN	L	85	ENSP00000328524:V85L;ENSP00000435866:V85L	ENSP00000328524:V85L	V	-	1	0	DENND5A	9184834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.577000	0.86979	0.655000	0.94253	GTA		PASS	0.348	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		60	179	60	179	---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14793481	14793481	+	Splice_Site	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:14793481A>G	ENST00000282096.4	+	2	1331		c.e2-1		PDE3B_ENST00000455098.2_Splice_Site|PDE3B_ENST00000534317.1_Splice_Site	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.?(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TTTTTTTTCTAGATGATTCTT	0.244																																						uc001mln.2																			1	Unknown(1)		lung(1)		0						c.e2-2		phosphodiesterase 3B							49.0	54.0	52.0					11																	14793481		2194	4255	6449	SO:0001630	splice_region_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14793481A>G	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.979-1A>G	11.37:g.14793481A>G						PDE3B_uc001mlm.2_Splice_Site_p.M327_splice|PDE3B_uc010rcr.1_Splice_Site_p.M327_splice	p.M327_splice	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			2	1332	+								B7ZM37|O00639|Q14408|Q6SEI4	Splice_Site	SNP	ENST00000282096.4	37	c.979_splice	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023363	0.75390	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0103	0.64493	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE3B	14750057	1.000000	0.71417	0.950000	0.38849	0.978000	0.69477	6.373000	0.73128	2.140000	0.66376	0.477000	0.44152	.		PASS	0.244	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	Intron	20	57	20	57	---	---	---	---
MYOD1	4654	broad.mit.edu	37	11	17741695	17741695	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:17741695G>A	ENST00000250003.3	+	1	581	c.366G>A	c.(364-366)ctG>ctA	p.L122L		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	122	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)	p.L122L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GGCGCCGCCTGAGCAAAGTAA	0.652																																						uc001mni.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(364-366)CTG>CTA		myogenic differentiation 1							32.0	21.0	25.0					11																	17741695		2197	4292	6489	SO:0001819	synonymous_variant	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741695G>A	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.366G>A	11.37:g.17741695G>A							p.L122L	NM_002478	NP_002469	P15172	MYOD1_HUMAN			1	586	+			122			Helix-loop-helix motif.		O75321	Silent	SNP	ENST00000250003.3	37	c.366G>A	CCDS7826.1																																																																																				PASS	0.652	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		6	25	6	25	---	---	---	---
IGSF22	283284	broad.mit.edu	37	11	18735591	18735591	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:18735591G>T	ENST00000513874.1	-	14	2042	c.1903C>A	c.(1903-1905)Cca>Aca	p.P635T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	635	Ig-like 4.							p.P635T(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTGGGCAGTGGTTTTCCCCGG	0.602																																						uc009yht.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|kidney(1)	7						c.(1903-1905)CCA>ACA		immunoglobulin superfamily, member 22							105.0	110.0	108.0					11																	18735591		2167	4252	6419	SO:0001583	missense	283284							g.chr11:18735591G>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1903C>A	11.37:g.18735591G>T	ENSP00000421191:p.Pro635Thr					IGSF22_uc001mpa.2_RNA	p.P635T	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			14	2093	-			635			Ig-like 4.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1903C>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	9.192	1.026158	0.19512	.	.	ENSG00000179057	ENST00000513874	T	0.74315	-0.83	3.9	2.96	0.34315	.	0.000000	0.36591	U	0.002514	D	0.83170	0.5196	H	0.98525	4.255	0.18873	N	0.999989	P	0.40578	0.722	B	0.42163	0.378	T	0.77219	-0.2668	10	0.46703	T	0.11	.	7.8124	0.29239	0.0925:0.1609:0.7465:0.0	.	635	D6RGV7	.	T	635	ENSP00000421191:P635T	ENSP00000322422:P635T	P	-	1	0	IGSF22	18692167	0.962000	0.33011	0.372000	0.25991	0.871000	0.50021	2.633000	0.46519	0.827000	0.34685	0.551000	0.68910	CCA		PASS	0.602	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		8	163	8	163	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19252207	19252207	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:19252207G>A	ENST00000527884.1	-	8	1473	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.A414V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	414					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A414V(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTACTGGGCGCAGAATTTAT	0.398																																						uc001mpm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1240-1242)GCG>GTG		E2F family member 8							106.0	102.0	103.0					11																	19252207		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19252207G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1241C>T	11.37:g.19252207G>A	ENSP00000434199:p.Ala414Val					E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Missense_Mutation_p.A414V	p.A414V	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			8	1763	-			414					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.1241C>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961874	0.92791	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.21734	1.99;1.99	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.40961	-0.9535	10	0.56958	D	0.05	-15.3373	19.571	0.95419	0.0:0.0:1.0:0.0	.	414	A0AVK6	E2F8_HUMAN	V	414	ENSP00000434199:A414V;ENSP00000250024:A414V	ENSP00000250024:A414V	A	-	2	0	E2F8	19208783	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.713000	0.92767	0.655000	0.94253	GCG		PASS	0.398	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		31	138	31	138	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32956442	32956442	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:32956442A>G	ENST00000399302.2	+	4	3586	c.3251A>G	c.(3250-3252)gAg>gGg	p.E1084G	QSER1_ENST00000527788.1_Missense_Mutation_p.E845G	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1084								p.E1084G(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CAAGTTAAAGAGGAAGACAAC	0.408																																						uc001mty.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3250-3252)GAG>GGG		glutamine and serine rich 1							86.0	85.0	85.0					11																	32956442		1896	4108	6004	SO:0001583	missense	79832							g.chr11:32956442A>G	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3251A>G	11.37:g.32956442A>G	ENSP00000382241:p.Glu1084Gly					QSER1_uc001mtz.1_Missense_Mutation_p.E845G|QSER1_uc001mua.2_Missense_Mutation_p.E589G	p.E1084G	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	3518	+	Breast(20;0.158)		1084					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3251A>G	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.49|19.49	3.837984|3.837984	0.71373|0.71373	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.27557|.	1.98;1.66|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.259256|.	0.31721|.	N|.	0.007175|.	T|T	0.75125|0.75125	0.3807|0.3807	M|M	0.73598|0.73598	2.24|2.24	0.54753|0.54753	D|D	0.999987|0.999987	D;D;P|.	0.89917|.	1.0;1.0;0.799|.	D;D;B|.	0.85130|.	0.997;0.994;0.252|.	T|T	0.75539|0.75539	-0.3282|-0.3282	10|5	0.87932|.	D|.	0|.	.|.	15.963|15.963	0.79945|0.79945	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	845;845;1084|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	G|G	1084;845;845|105	ENSP00000382241:E1084G;ENSP00000432766:E845G|.	ENSP00000078652:E845G|.	E|R	+|+	2|1	0|2	QSER1|QSER1	32913018|32913018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	6.655000|6.655000	0.74392|0.74392	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	GAG|AGG		PASS	0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		38	104	38	104	---	---	---	---
TRAF6	7189	broad.mit.edu	37	11	36512059	36512059	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:36512059G>T	ENST00000526995.1	-	7	1144	c.898C>A	c.(898-900)Cac>Aac	p.H300N	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Missense_Mutation_p.H300N	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	300	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H300N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TCTAACTGGTGAATAGTTTCC	0.463																																						uc001mwr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(898-900)CAC>AAC		TNF receptor-associated factor 6							126.0	120.0	122.0					11																	36512059		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36512059G>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.898C>A	11.37:g.36512059G>T	ENSP00000433623:p.His300Asn					TRAF6_uc001mws.1_Missense_Mutation_p.H300N	p.H300N	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN			8	1238	-	all_lung(20;0.211)	all_hematologic(20;0.107)	300			Potential.|Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.898C>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905498	0.33628	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.81415	-1.49;-1.49	5.13	4.19	0.49359	.	0.318264	0.39475	N	0.001354	T	0.68760	0.3036	L	0.34521	1.04	0.23401	N	0.997759	B	0.06786	0.001	B	0.14023	0.01	T	0.52646	-0.8548	10	0.19590	T	0.45	-7.5944	10.5206	0.44916	0.0:0.1401:0.7049:0.155	.	300	Q9Y4K3	TRAF6_HUMAN	N	300	ENSP00000433623:H300N;ENSP00000337853:H300N	ENSP00000337853:H300N	H	-	1	0	TRAF6	36468635	1.000000	0.71417	0.994000	0.49952	0.893000	0.52053	5.378000	0.66190	1.221000	0.43506	0.555000	0.69702	CAC		PASS	0.463	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		174	247	174	247	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36596776	36596776	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:36596776T>G	ENST00000299440.5	+	2	2034	c.1922T>G	c.(1921-1923)gTg>gGg	p.V641G		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	641					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V641G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCTCAGAATGTGAAAGTATTT	0.463									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(1921-1923)GTG>GGG		recombination activating gene 1							76.0	69.0	72.0					11																	36596776		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596776T>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1922T>G	11.37:g.36596776T>G	ENSP00000299440:p.Val641Gly					RAG1_uc001mwt.2_RNA	p.V641G	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2046	+	all_lung(20;0.226)	all_hematologic(20;0.107)	641					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1922T>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	T	9.611	1.131243	0.21041	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87256	-2.23;-2.23	5.71	4.59	0.56863	.	0.384583	0.25810	N	0.028149	D	0.93677	0.7980	M	0.91768	3.24	0.54753	D	0.999981	D	0.65815	0.995	D	0.80764	0.994	D	0.93082	0.6492	10	0.87932	D	0	.	7.7921	0.29127	0.1238:0.068:0.0:0.8082	.	641	P15918	RAG1_HUMAN	G	641	ENSP00000434610:V641G;ENSP00000299440:V641G	ENSP00000299440:V641G	V	+	2	0	RAG1	36553352	1.000000	0.71417	0.737000	0.30932	0.007000	0.05969	6.031000	0.70911	1.005000	0.39183	0.524000	0.50904	GTG		PASS	0.463	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		17	108	17	108	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136341	40136341	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:40136341G>T	ENST00000278198.2	-	2	3465	c.1502C>A	c.(1501-1503)aCa>aAa	p.T501K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.T501K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T501K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T501K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	501					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.T501K(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTTTTCTCTGTCGACCTTGT	0.498																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1501-1503)ACA>AAA		netrin-G1 ligand precursor							169.0	134.0	146.0					11																	40136341		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136341G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1502C>A	11.37:g.40136341G>T	ENSP00000278198:p.Thr501Lys					LRRC4C_uc001mxc.1_Missense_Mutation_p.T497K|LRRC4C_uc001mxd.1_Missense_Mutation_p.T497K|LRRC4C_uc001mxb.1_Missense_Mutation_p.T497K	p.T501K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3466	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	501					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1502C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733175	0.48939	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	L	0.61218	1.895	0.80722	D	1	P	0.43885	0.82	P	0.50860	0.652	T	0.07868	-1.0750	10	0.27082	T	0.32	.	19.1433	0.93455	0.0:0.0:1.0:0.0	.	501	Q9HCJ2	LRC4C_HUMAN	K	501	ENSP00000278198:T501K;ENSP00000436976:T501K;ENSP00000437132:T501K;ENSP00000434761:T501K	ENSP00000278198:T501K	T	-	2	0	LRRC4C	40092917	1.000000	0.71417	0.962000	0.40283	0.362000	0.29581	9.593000	0.98250	2.760000	0.94817	0.655000	0.94253	ACA		PASS	0.498	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		25	78	25	78	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40137090	40137090	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:40137090T>C	ENST00000278198.2	-	2	2716	c.753A>G	c.(751-753)atA>atG	p.I251M	LRRC4C_ENST00000530763.1_Missense_Mutation_p.I251M|LRRC4C_ENST00000527150.1_Missense_Mutation_p.I251M|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I251M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	251					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.I251M(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCTGGGACTGTATCATCCACA	0.433																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(751-753)ATA>ATG		netrin-G1 ligand precursor							110.0	95.0	100.0					11																	40137090		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137090T>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.753A>G	11.37:g.40137090T>C	ENSP00000278198:p.Ile251Met					LRRC4C_uc001mxc.1_Missense_Mutation_p.I247M|LRRC4C_uc001mxd.1_Missense_Mutation_p.I247M|LRRC4C_uc001mxb.1_Missense_Mutation_p.I247M	p.I251M	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2717	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	251			LRR 8.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.753A>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.978776	0.00448	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.44	-1.4	0.08968	.	0.044428	0.85682	D	0.000000	T	0.20901	0.0503	N	0.04203	-0.255	0.35740	D	0.81862	B	0.02656	0.0	B	0.06405	0.002	T	0.07966	-1.0745	10	0.15952	T	0.53	.	5.4229	0.16409	0.1041:0.0707:0.459:0.3663	.	251	Q9HCJ2	LRC4C_HUMAN	M	251	ENSP00000278198:I251M;ENSP00000436976:I251M;ENSP00000437132:I251M;ENSP00000434761:I251M	ENSP00000278198:I251M	I	-	3	3	LRRC4C	40093666	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.184000	0.32053	0.029000	0.15352	-0.321000	0.08615	ATA		PASS	0.433	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		42	123	42	123	---	---	---	---
OR4X1	390113	broad.mit.edu	37	11	48286057	48286057	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:48286057C>A	ENST00000320048.1	+	1	645	c.645C>A	c.(643-645)tcC>tcA	p.S215S		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S215S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGATGGCTTCCTACCTGATCA	0.552																																						uc010rht.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(643-645)TCC>TCA		olfactory receptor, family 4, subfamily X,							133.0	108.0	116.0					11																	48286057		2201	4298	6499	SO:0001819	synonymous_variant	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286057C>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.645C>A	11.37:g.48286057C>A							p.S215S	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			1	645	+			215			Helical; Name=5; (Potential).		Q6IF74	Silent	SNP	ENST00000320048.1	37	c.645C>A	CCDS31487.1																																																																																				PASS	0.552	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		16	33	16	33	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681515	55681515	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:55681515G>T	ENST00000344514.1	-	1	543	c.544C>A	c.(544-546)Cct>Act	p.P182T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P182T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGAGAGGAGGGATATCACAG	0.403																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(544-546)CCT>ACT		olfactory receptor, family 5, subfamily W,							75.0	72.0	73.0					11																	55681515		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681515G>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.544C>A	11.37:g.55681515G>T	ENSP00000342448:p.Pro182Thr						p.P182T	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	544	-			182			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.544C>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	G	9.447	1.089664	0.20390	.	.	ENSG00000187612	ENST00000344514	T	0.00211	8.54	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001169	T	0.00328	0.0010	M	0.70903	2.155	0.09310	N	1	P	0.36465	0.554	P	0.45506	0.483	T	0.33085	-0.9882	10	0.72032	D	0.01	.	11.6597	0.51339	0.0:0.1794:0.8206:0.0	.	182	Q8NH69	OR5W2_HUMAN	T	182	ENSP00000342448:P182T	ENSP00000342448:P182T	P	-	1	0	OR5W2	55438091	0.000000	0.05858	0.081000	0.20488	0.539000	0.34962	-0.469000	0.06648	2.306000	0.77630	0.542000	0.68232	CCT		PASS	0.403	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		14	67	14	67	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681783	55681783	+	Silent	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:55681783T>A	ENST00000344514.1	-	1	275	c.276A>T	c.(274-276)atA>atT	p.I92I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I92I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATAGAAGGGTATTGACTTGT	0.453																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(274-276)ATA>ATT		olfactory receptor, family 5, subfamily W,							143.0	136.0	139.0					11																	55681783		2201	4296	6497	SO:0001819	synonymous_variant	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681783T>A	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.276A>T	11.37:g.55681783T>A							p.I92I	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	276	-			92			Extracellular (Potential).			Silent	SNP	ENST00000344514.1	37	c.276A>T	CCDS31513.1																																																																																				PASS	0.453	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		8	45	8	45	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468174	56468174	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:56468174C>T	ENST00000312153.1	+	1	311	c.311C>T	c.(310-312)gCa>gTa	p.A104V		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A104V(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TTCTTCTCTGCAGGGCTGGCC	0.532																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GCA>GTA		olfactory receptor, family 9, subfamily G,							114.0	111.0	112.0					11																	56468174		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468174C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.311C>T	11.37:g.56468174C>T	ENSP00000309012:p.Ala104Val						p.A104V	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	311	+			104			Helical; Name=3; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.311C>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	3.441	-0.114020	0.06881	.	.	ENSG00000174914	ENST00000312153	T	0.00558	6.61	4.54	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	0.533869	0.17146	N	0.185247	T	0.00496	0.0016	N	0.05414	-0.055	0.09310	N	1	D	0.59357	0.985	P	0.60415	0.874	T	0.42932	-0.9422	10	0.02654	T	1	-0.1211	12.5663	0.56312	0.0:0.3123:0.6145:0.0731	.	104	Q8NH87	OR9G1_HUMAN	V	104	ENSP00000309012:A104V	ENSP00000309012:A104V	A	+	2	0	OR9G1	56224750	0.000000	0.05858	0.014000	0.15608	0.326000	0.28443	-2.464000	0.00996	-0.331000	0.08501	-0.291000	0.09656	GCA		PASS	0.532	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		27	88	27	88	---	---	---	---
PRG2	5553	broad.mit.edu	37	11	57156084	57156084	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:57156084C>A	ENST00000311862.5	-	4	537	c.464G>T	c.(463-465)gGt>gTt	p.G155V	PRG2_ENST00000533605.1_Missense_Mutation_p.G144V|PRG2_ENST00000525955.1_Missense_Mutation_p.G155V	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	155	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.G155V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CCAGACTTGACCCTGGTTGAG	0.502																																						uc001njz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(463-465)GGT>GTT		proteoglycan 2 preproprotein	Sargramostim(DB00020)						218.0	202.0	207.0					11																	57156084		2201	4296	6497	SO:0001583	missense	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57156084C>A	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.464G>T	11.37:g.57156084C>A	ENSP00000312134:p.Gly155Val					PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.G155V|PRG2_uc001nkb.2_Missense_Mutation_p.G155V|PRG2_uc001nkd.2_Missense_Mutation_p.G144V|PRG2_uc001nkc.2_Missense_Mutation_p.G155V|PRG2_uc001nke.2_Missense_Mutation_p.G435V	p.G155V	NM_002728	NP_002719	P13727	PRG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	491	-			155			C-type lectin.		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.464G>T	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417937	0.62622	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.48201	0.82;0.82;0.82	5.64	-3.12	0.05282	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.271361	0.26109	N	0.026290	T	0.55657	0.1934	M	0.80508	2.5	0.09310	N	0.999999	D;D	0.61697	0.975;0.99	P;P	0.59288	0.454;0.855	T	0.50717	-0.8795	10	0.72032	D	0.01	.	5.4451	0.16531	0.2376:0.2228:0.466:0.0735	.	144;155	A6XMW0;P13727	.;PRG2_HUMAN	V	155;144;155	ENSP00000312134:G155V;ENSP00000433231:G144V;ENSP00000433016:G155V	ENSP00000312134:G155V	G	-	2	0	PRG2	56912660	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-1.258000	0.02863	-0.234000	0.09782	0.650000	0.86243	GGT		PASS	0.502	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		33	161	33	161	---	---	---	---
OR9Q1	219956	broad.mit.edu	37	11	57947182	57947182	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:57947182G>T	ENST00000335397.3	+	3	582	c.266G>T	c.(265-267)gGg>gTg	p.G89V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G89V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CTGGAGCATGGGGCAGCTTTA	0.527																																						uc001nmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(265-267)GGG>GTG		olfactory receptor, family 9, subfamily Q,							158.0	130.0	140.0					11																	57947182		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947182G>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.266G>T	11.37:g.57947182G>T	ENSP00000334934:p.Gly89Val						p.G89V	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	582	+		Breast(21;0.222)	89			Extracellular (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.266G>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234600	0.22626	.	.	ENSG00000186509	ENST00000335397	T	0.00397	7.57	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.126156	0.36338	N	0.002654	T	0.00468	0.0015	L	0.31578	0.945	0.26121	N	0.980559	D	0.76494	0.999	D	0.69654	0.965	T	0.61197	-0.7111	10	0.62326	D	0.03	-20.6523	8.9435	0.35745	0.1701:0.0:0.8299:0.0	.	89	Q8NGQ5	OR9Q1_HUMAN	V	89	ENSP00000334934:G89V	ENSP00000334934:G89V	G	+	2	0	OR9Q1	57703758	0.000000	0.05858	0.652000	0.29579	0.008000	0.06430	0.207000	0.17395	2.571000	0.86741	0.563000	0.77884	GGG		PASS	0.527	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		49	110	49	110	---	---	---	---
GAL3ST3	89792	broad.mit.edu	37	11	65811127	65811127	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:65811127C>G	ENST00000312006.4	-	3	428	c.147G>C	c.(145-147)ttG>ttC	p.L49F	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.L49F	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	49					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.L49F(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						GAGGGCAGCTCAAGGGGAACA	0.652																																						uc001ogv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(145-147)TTG>TTC		galactose-3-O-sulfotransferase 3							18.0	16.0	16.0					11																	65811127		2169	4252	6421	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65811127C>G	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.147G>C	11.37:g.65811127C>G	ENSP00000308591:p.Leu49Phe					GAL3ST3_uc001ogw.2_Missense_Mutation_p.L49F	p.L49F	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN			2	307	-			49			Lumenal (Potential).		Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.147G>C	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263664	0.23136	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99735	-6.58;-6.58	4.11	3.12	0.35913	.	0.656995	0.13070	N	0.416174	D	0.97782	0.9272	N	0.19112	0.55	0.32464	N	0.543727	B	0.02656	0.0	B	0.04013	0.001	D	0.99917	1.1229	10	0.09590	T	0.72	-5.0233	11.7029	0.51581	0.0:0.8194:0.1806:0.0	.	49	Q96A11	G3ST3_HUMAN	F	49	ENSP00000308591:L49F;ENSP00000434829:L49F	ENSP00000308591:L49F	L	-	3	2	GAL3ST3	65567703	0.019000	0.18553	1.000000	0.80357	0.755000	0.42902	0.023000	0.13533	2.295000	0.77249	0.462000	0.41574	TTG		PASS	0.652	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		13	18	13	18	---	---	---	---
TBX10	347853	broad.mit.edu	37	11	67402568	67402568	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:67402568C>T	ENST00000335385.3	-	2	261	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	58					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K58K(1)		endometrium(2)|lung(4)|ovary(1)	7						CACGTGGGTTCTTGGGGCCCT	0.627																																						uc001omp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(172-174)AAG>AAA		T-box 10							50.0	50.0	50.0					11																	67402568		2200	4294	6494	SO:0001819	synonymous_variant	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67402568C>T	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.174G>A	11.37:g.67402568C>T							p.K58K	NM_005995	NP_005986	O75333	TBX10_HUMAN			2	262	-			58					Q14D64|Q86XS3	Silent	SNP	ENST00000335385.3	37	c.174G>A	CCDS31621.1																																																																																				PASS	0.627	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		33	84	33	84	---	---	---	---
SLCO2B1	11309	broad.mit.edu	37	11	74904316	74904316	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:74904316G>T	ENST00000289575.5	+	9	1524	c.1129G>T	c.(1129-1131)Gtc>Ttc	p.V377F	SLCO2B1_ENST00000454962.2_Missense_Mutation_p.V150F|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.V261F|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.V355F|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.V233F|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.V150F|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.V122F	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	377					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.V377F(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCTGCTGGTGGTCCTGTCCCA	0.627																																						uc001owb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1129-1131)GTC>TTC		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						97.0	86.0	90.0					11																	74904316		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904316G>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1129G>T	11.37:g.74904316G>T	ENSP00000289575:p.Val377Phe					SLCO2B1_uc010rrq.1_Missense_Mutation_p.V122F|SLCO2B1_uc010rrr.1_Missense_Mutation_p.V233F|SLCO2B1_uc010rrs.1_Missense_Mutation_p.V261F|SLCO2B1_uc001owc.2_Missense_Mutation_p.V150F|SLCO2B1_uc001owd.2_Missense_Mutation_p.V355F	p.V377F	NM_007256	NP_009187	O94956	SO2B1_HUMAN			9	1516	+			377			Helical; Name=7; (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1129G>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817720	0.71028	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.12	5.12	0.69794	Major facilitator superfamily domain, general substrate transporter (1);	0.151689	0.43747	D	0.000529	T	0.69584	0.3127	M	0.89287	3.02	0.53005	D	0.999961	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.996;0.994;0.996	T	0.73427	-0.3986	10	0.42905	T	0.14	.	16.108	0.81237	0.0:0.0:1.0:0.0	.	233;122;150;377	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	F	377;150;261;122;233;150;355	ENSP00000289575:V377F;ENSP00000341286:V150F;ENSP00000434112:V261F;ENSP00000432650:V122F;ENSP00000436324:V233F;ENSP00000389653:V150F;ENSP00000388912:V355F	ENSP00000289575:V377F	V	+	1	0	SLCO2B1	74581964	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	4.693000	0.61753	2.408000	0.81797	0.485000	0.47835	GTC		PASS	0.627	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		11	125	11	125	---	---	---	---
RAB38	23682	broad.mit.edu	37	11	87847211	87847211	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:87847211T>C	ENST00000243662.6	-	3	663	c.581A>G	c.(580-582)aAg>aGg	p.K194R	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	194					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.K194R(1)		large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGATGGGGCTTCACGACGTC	0.478																																						uc001pcj.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(580-582)AAG>AGG		RAB38							151.0	140.0	144.0					11																	87847211		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87847211T>C	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.581A>G	11.37:g.87847211T>C	ENSP00000243662:p.Lys194Arg						p.K194R	NM_022337	NP_071732	P57729	RAB38_HUMAN			3	628	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	194					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.581A>G	CCDS8281.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.130425	0.37630	.	.	ENSG00000123892	ENST00000243662	T	0.79845	-1.31	5.47	4.33	0.51752	.	0.255199	0.38663	N	0.001616	T	0.59459	0.2195	N	0.08118	0	0.32278	N	0.568	B	0.14012	0.009	B	0.14023	0.01	T	0.59101	-0.7517	9	.	.	.	-20.1257	9.1095	0.36718	0.0:0.0865:0.0:0.9135	.	194	P57729	RAB38_HUMAN	R	194	ENSP00000243662:K194R	.	K	-	2	0	RAB38	87486859	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	2.615000	0.46368	2.199000	0.70637	0.528000	0.53228	AAG		PASS	0.478	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			65	124	65	124	---	---	---	---
TYR	7299	broad.mit.edu	37	11	89028313	89028313	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:89028313C>A	ENST00000263321.5	+	5	1871	c.1369C>A	c.(1369-1371)Cca>Aca	p.P457T		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	457					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P457T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TATTTCAGACCCAGACTCTTT	0.468																																						uc001pcs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1369-1371)CCA>ACA		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						36.0	37.0	37.0					11																	89028313		2201	4297	6498	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89028313C>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1369C>A	11.37:g.89028313C>A	ENSP00000263321:p.Pro457Thr						p.P457T	NM_000372	NP_000363	P14679	TYRO_HUMAN			5	1451	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	457			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1369C>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.463993	0.01053	.	.	ENSG00000077498	ENST00000263321	D	0.99143	-5.48	4.9	0.622	0.17648	Uncharacterised domain, di-copper centre (1);	0.659573	0.15376	N	0.265593	D	0.95639	0.8582	L	0.29908	0.895	0.09310	N	1	B	0.32245	0.361	B	0.29267	0.1	D	0.90808	0.4699	9	.	.	.	.	7.6986	0.28608	0.0:0.4753:0.3203:0.2044	.	457	P14679	TYRO_HUMAN	T	457	ENSP00000263321:P457T	.	P	+	1	0	TYR	88667961	0.002000	0.14202	0.000000	0.03702	0.026000	0.11368	-0.031000	0.12287	-0.311000	0.08754	-1.842000	0.00583	CCA		PASS	0.468	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		30	38	30	38	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89177344	89177344	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:89177344C>T	ENST00000263317.4	-	5	644	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	NOX4_ENST00000413594.2_Missense_Mutation_p.E157K|NOX4_ENST00000525196.1_Missense_Mutation_p.E136K|NOX4_ENST00000343727.5_Missense_Mutation_p.E112K|NOX4_ENST00000532825.1_Missense_Mutation_p.E112K|NOX4_ENST00000528341.1_Missense_Mutation_p.E111K|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.E112K|NOX4_ENST00000535633.1_Missense_Mutation_p.E112K|NOX4_ENST00000424319.1_Missense_Mutation_p.E112K|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Missense_Mutation_p.E136K|NOX4_ENST00000527956.1_Missense_Mutation_p.E112K			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	136	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.E136K(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACAAAGTCTTCACTGTAATTC	0.448																																						uc001pct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(406-408)GAA>AAA		NADPH oxidase 4 isoform a							146.0	126.0	133.0					11																	89177344		2201	4299	6500	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89177344C>T	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.406G>A	11.37:g.89177344C>T	ENSP00000263317:p.Glu136Lys					NOX4_uc009yvr.2_Missense_Mutation_p.E111K|NOX4_uc001pcu.2_Missense_Mutation_p.E62K|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.E136K|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.E136K|NOX4_uc010rtv.1_Missense_Mutation_p.E112K|NOX4_uc009yvq.2_Missense_Mutation_p.E112K|NOX4_uc009yvs.1_RNA	p.E136K	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			5	645	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	136			Extracellular (Potential).|Ferric oxidoreductase.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.406G>A	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623199	0.46840	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.95554	-3.67;-3.67;-3.67;-3.65;-3.65;-3.59;-3.74;-3.67;-3.67;-3.65;-3.71	4.96	4.05	0.47172	Flavoprotein transmembrane component (1);	0.121462	0.53938	N	0.000058	D	0.93871	0.8039	L	0.49640	1.575	0.42943	D	0.994355	B;P;B;B;B	0.35174	0.343;0.488;0.129;0.018;0.298	P;B;B;B;B	0.45232	0.474;0.345;0.048;0.031;0.243	D	0.91041	0.4871	9	.	.	.	-6.9869	8.0813	0.30746	0.0:0.7524:0.1604:0.0871	.	112;111;136;136;136	E9PMY6;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	K	112;112;112;136;136;136;112;112;112;111;157	ENSP00000412446:E112K;ENSP00000440172:E112K;ENSP00000344747:E112K;ENSP00000436892:E136K;ENSP00000436716:E136K;ENSP00000263317:E136K;ENSP00000434924:E112K;ENSP00000433797:E112K;ENSP00000439373:E112K;ENSP00000436970:E111K;ENSP00000405705:E157K	.	E	-	1	0	NOX4	88816992	0.997000	0.39634	0.576000	0.28549	0.656000	0.38851	3.713000	0.54882	1.213000	0.43380	0.563000	0.77884	GAA		PASS	0.448	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		44	56	44	56	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89413808	89413808	+	RNA	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:89413808A>G	ENST00000532352.1	+	0	1293							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.P160P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTGTACACCACTGATGTACA	0.294																																						uc001pda.2																			3	Substitution - coding silent(3)		lung(2)|kidney(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(478-480)CCA>CCG		folate hydrolase 1B							43.0	43.0	43.0					11																	89413808		2201	4293	6494			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89413808A>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89413808A>G							p.P160P	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			8	1006	+			160						Silent	SNP	ENST00000532352.1	37	c.480A>G																																																																																					PASS	0.294	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		5	36	5	36	---	---	---	---
C11orf65	160140	broad.mit.edu	37	11	108277675	108277675	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:108277675C>T	ENST00000529391.1	-	4	253	c.244G>A	c.(244-246)Gat>Aat	p.D82N	C11orf65_ENST00000393084.1_Missense_Mutation_p.D82N|C11orf65_ENST00000526725.1_5'Flank|C11orf65_ENST00000525729.1_Missense_Mutation_p.D33N			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	82								p.D82N(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TAGTATATATCAGGTGGAAAT	0.303																																						uc001pkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(244-246)GAT>AAT		hypothetical protein LOC160140							57.0	63.0	61.0					11																	108277675		2200	4297	6497	SO:0001583	missense	160140							g.chr11:108277675C>T	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.244G>A	11.37:g.108277675C>T	ENSP00000436400:p.Asp82Asn					C11orf65_uc010rvx.1_Missense_Mutation_p.D33N|C11orf65_uc009yxu.1_RNA	p.D82N	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	5	314	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	82					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.244G>A	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	C	2.051	-0.417730	0.04766	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.16	-0.0619	0.13783	.	1.460050	0.04235	N	0.335944	T	0.12433	0.0302	N	0.11427	0.14	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.16867	-1.0388	10	0.06365	T	0.9	-2.2201	0.8201	0.01109	0.1776:0.2016:0.3541:0.2667	.	33;82	B4DZU4;Q8NCR3	.;CK065_HUMAN	N	33;82;82;64	ENSP00000433395:D33N;ENSP00000436400:D82N;ENSP00000376799:D82N;ENSP00000434500:D64N	ENSP00000376799:D82N	D	-	1	0	C11orf65	107782885	0.318000	0.24598	0.690000	0.30148	0.888000	0.51559	0.891000	0.28309	0.145000	0.18977	-0.172000	0.13284	GAT		PASS	0.303	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		32	51	32	51	---	---	---	---
OR10S1	219873	broad.mit.edu	37	11	123847781	123847781	+	Silent	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:123847781G>T	ENST00000531945.1	-	1	707	c.618C>A	c.(616-618)acC>acA	p.T206T		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T206T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATTAATGGTGGTGTCTGTAC	0.537																																						uc001pzm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(616-618)ACC>ACA		olfactory receptor, family 10, subfamily S,							76.0	63.0	67.0					11																	123847781		2202	4299	6501	SO:0001819	synonymous_variant	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847781G>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.618C>A	11.37:g.123847781G>T							p.T206T	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	618	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	206			Extracellular (Potential).		B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	c.618C>A	CCDS31701.1																																																																																				PASS	0.537	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		27	40	27	40	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124761204	124761204	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:124761204T>G	ENST00000306534.3	-	12	2424	c.1939A>C	c.(1939-1941)Aag>Cag	p.K647Q	ROBO4_ENST00000533054.1_Missense_Mutation_p.K502Q|RP11-664I21.6_ENST00000524433.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	647					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.K647Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCCTGCTTCTTTTTGGCCTTC	0.597																																						uc001qbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1939-1941)AAG>CAG		roundabout homolog 4, magic roundabout							59.0	60.0	60.0					11																	124761204		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124761204T>G	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1939A>C	11.37:g.124761204T>G	ENSP00000304945:p.Lys647Gln					ROBO4_uc010sas.1_Missense_Mutation_p.K502Q|ROBO4_uc001qbh.2_Missense_Mutation_p.K537Q|ROBO4_uc001qbi.2_Missense_Mutation_p.K205Q|ROBO4_uc010sat.1_Missense_Mutation_p.K205Q	p.K647Q	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	12	2079	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	647					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1939A>C	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.409707	0.62399	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64438	-0.1;0.27	5.92	4.81	0.61882	.	0.182978	0.26959	N	0.021637	T	0.65770	0.2723	M	0.65975	2.015	0.26694	N	0.971301	P;D;P	0.57571	0.928;0.98;0.956	P;P;P	0.53649	0.564;0.731;0.527	T	0.59161	-0.7506	10	0.25106	T	0.35	.	7.9498	0.30008	0.0:0.0889:0.0:0.9111	.	647;537;647	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	Q	647;537;502	ENSP00000304945:K647Q;ENSP00000437129:K502Q	ENSP00000304945:K647Q	K	-	1	0	ROBO4	124266414	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.407000	0.44565	2.263000	0.75096	0.533000	0.62120	AAG		PASS	0.597	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		22	32	22	32	---	---	---	---
GLB1L2	89944	broad.mit.edu	37	11	134229019	134229019	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:134229019G>A	ENST00000535456.2	+	7	905	c.717G>A	c.(715-717)aaG>aaA	p.K239K	GLB1L2_ENST00000339772.7_Silent_p.K239K|GLB1L2_ENST00000389881.3_Silent_p.K239K|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	239					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.K239K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCTGAGCAAGGGGATTGTCC	0.632																																						uc001qhp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(715-717)AAG>AAA		galactosidase, beta 1-like 2 precursor							196.0	171.0	179.0					11																	134229019		2201	4297	6498	SO:0001819	synonymous_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134229019G>A		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.717G>A	11.37:g.134229019G>A						GLB1L2_uc009zdg.1_RNA	p.K239K	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	7	905	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	239					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	c.717G>A	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	G	1.088	-0.664941	0.03428	.	.	ENSG00000149328	ENST00000525089;ENST00000533324	.	.	.	4.72	0.273	0.15650	.	.	.	.	.	T	0.43010	0.1228	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	-8.7816	2.6409	0.04971	0.0889:0.2681:0.2408:0.4022	.	.	.	.	R	178;67	.	.	G	+	1	0	GLB1L2	133734229	0.076000	0.21285	0.455000	0.27031	0.285000	0.27093	0.236000	0.17967	0.195000	0.20347	0.561000	0.74099	GGG		PASS	0.632	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		66	131	66	131	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7640565	7640565	+	Silent	SNP	G	G	A	rs370456843		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:7640565G>A	ENST00000359156.4	-	7	1741	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	CD163_ENST00000432237.2_Silent_p.S513S|CD163_ENST00000396620.3_Silent_p.S513S|CD163_ENST00000541972.1_Silent_p.S501S|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	513	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S513S(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGCATAGAACGCTGGCAGCTT	0.527																																						uc001qsz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1537-1539)AGC>AGT		CD163 antigen isoform a		G	,	1,4405	2.1+/-5.4	0,1,2202	87.0	73.0	78.0		1539,1539	-10.5	0.0	12		78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CD163	NM_004244.5,NM_203416.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	513/1157,513/1122	7640565	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640565G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1539C>T	12.37:g.7640565G>A						CD163_uc001qta.3_Silent_p.S513S|CD163_uc009zfw.2_Silent_p.S513S	p.S513S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			7	1667	-			513			SRCR 5.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.1539C>T	CCDS8578.1																																																																																				PASS	0.527	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		17	72	17	72	---	---	---	---
TAS2R7	50837	broad.mit.edu	37	12	10954981	10954981	+	Silent	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:10954981T>C	ENST00000240687.2	-	1	245	c.189A>G	c.(187-189)ctA>ctG	p.L63L		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	63					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.L63L(1)		kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						AACAATCTAATAGTATTACGC	0.363																																						uc001qyv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(187-189)CTA>CTG		taste receptor, type 2, member 7							90.0	91.0	91.0					12																	10954981		2203	4300	6503	SO:0001819	synonymous_variant	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10954981T>C	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.189A>G	12.37:g.10954981T>C							p.L63L	NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN			1	246	-			63			Helical; Name=2; (Potential).		Q645Y1	Silent	SNP	ENST00000240687.2	37	c.189A>G	CCDS8631.1																																																																																				PASS	0.363	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1			66	129	66	129	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21200045	21200045	+	Silent	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:21200045T>A	ENST00000421593.2	+	7	888	c.888T>A	c.(886-888)atT>atA	p.I296I	SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.I343I|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Silent_p.I343I	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I296I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TATTTGTAATTTTTACATTGT	0.313																																						uc010sin.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(886-888)ATT>ATA		liver-specific organic anion transporter 3TM12							76.0	78.0	77.0					12																	21200045		2182	4285	6467	SO:0001819	synonymous_variant	338821					membrane	transporter activity	g.chr12:21200045T>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.888T>A	12.37:g.21200045T>A						SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.I343I	p.I296I	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			7	888	+			296					Q71QF0	Silent	SNP	ENST00000421593.2	37	c.888T>A	CCDS44843.1																																																																																				PASS	0.313	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		13	35	13	35	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21970196	21970196	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:21970196C>T	ENST00000261201.4	-	31	3816	c.3817G>A	c.(3817-3819)Gag>Aag	p.E1273K	ABCC9_ENST00000345162.2_Missense_Mutation_p.E1237K|ABCC9_ENST00000261200.4_Missense_Mutation_p.E1273K	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1273	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.E1273K(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATCTGGACCTCCAGGTCAGCC	0.378																																						uc001rfi.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(3817-3819)GAG>AAG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						130.0	132.0	132.0					12																	21970196		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21970196C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3817G>A	12.37:g.21970196C>T	ENSP00000261201:p.Glu1273Lys					ABCC9_uc001rfh.2_Missense_Mutation_p.E1273K|ABCC9_uc001rfj.1_Missense_Mutation_p.E1237K	p.E1273K	NM_005691	NP_005682	O60706	ABCC9_HUMAN			31	3837	-			1273			Cytoplasmic (Potential).|ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3817G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160921	0.94727	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	4.52	4.52	0.55395	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	D	0.99686	1.1000	10	0.87932	D	0	-18.7703	17.7929	0.88561	0.0:1.0:0.0:0.0	.	1273;1273	O60706;O60706-2	ABCC9_HUMAN;.	K	1273;900;1273;1237	ENSP00000261200:E1273K;ENSP00000440521:E900K;ENSP00000261201:E1273K;ENSP00000261202:E1237K	ENSP00000261200:E1273K	E	-	1	0	ABCC9	21861463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.483000	0.81158	2.525000	0.85131	0.650000	0.86243	GAG		PASS	0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		63	189	63	189	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27933843	27933843	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:27933843C>T	ENST00000381271.2	+	1	891	c.580C>T	c.(580-582)Cct>Tct	p.P194S	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	194					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P194S(1)									GACTGGGACTCCTGTCCTCGT	0.672																																						uc001rij.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(580-582)CCT>TCT		kelch domain containing 5							26.0	27.0	27.0					12																	27933843		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27933843C>T	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.580C>T	12.37:g.27933843C>T	ENSP00000370671:p.Pro194Ser					KLHDC5_uc009zjj.2_RNA	p.P194S	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN			1	657	+	Lung SC(9;0.0873)		194			Kelch 1.		Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.580C>T	CCDS31763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.73|15.73	2.919440|2.919440	0.52653|0.52653	.|.	.|.	ENSG00000087448|ENSG00000087448	ENST00000381271|ENST00000543254	T|.	0.73152|.	-0.72|.	4.77|4.77	2.85|2.85	0.33270|0.33270	.|.	0.254674|.	0.38436|.	N|.	0.001694|.	T|T	0.40767|0.40767	0.1130|0.1130	N|N	0.14661|0.14661	0.345|0.345	0.35609|0.35609	D|D	0.808487|0.808487	B|.	0.30793|.	0.295|.	B|.	0.27608|.	0.081|.	T|T	0.48115|0.48115	-0.9063|-0.9063	10|5	0.06625|.	T|.	0.88|.	.|.	14.0145|14.0145	0.64517|0.64517	0.0:0.6212:0.3788:0.0|0.0:0.6212:0.3788:0.0	.|.	194|.	Q9P2K6|.	KLDC5_HUMAN|.	S|F	194|15	ENSP00000370671:P194S|.	ENSP00000370671:P194S|.	P|S	+|+	1|2	0|0	KLHDC5|KLHDC5	27825110|27825110	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.998000|0.998000	0.95712|0.95712	3.495000|3.495000	0.53280|0.53280	1.211000|1.211000	0.43351|0.43351	0.591000|0.591000	0.81541|0.81541	CCT|TCC		PASS	0.672	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		21	40	21	40	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48380931	48380931	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:48380931C>A	ENST00000380518.3	-	21	1459	c.1295G>T	c.(1294-1296)gGc>gTc	p.G432V	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G363V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	432	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G432V(1)|p.G363V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCCAGGGAAGCCAGGAGCACC	0.637																																						uc001rqu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1294-1296)GGC>GTC		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						69.0	74.0	73.0					12																	48380931		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48380931C>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1295G>T	12.37:g.48380931C>A	ENSP00000369889:p.Gly432Val					COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G363V	p.G432V	NM_001844	NP_001835	P02458	CO2A1_HUMAN			21	1476	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	432			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.1295G>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897677	0.72639	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99186	-5.53;-5.53	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.99629	0.9864	H	0.98818	4.34	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79108	0.981;0.992	D	0.97371	0.9976	10	0.87932	D	0	.	17.7852	0.88535	0.0:1.0:0.0:0.0	.	363;432	P02458-1;P02458	.;CO2A1_HUMAN	V	432;363;363	ENSP00000369889:G432V;ENSP00000338213:G363V	ENSP00000338213:G363V	G	-	2	0	COL2A1	46667198	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.922000	0.70036	2.605000	0.88082	0.655000	0.94253	GGC		PASS	0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		41	114	41	114	---	---	---	---
SLC4A8	9498	broad.mit.edu	37	12	51865250	51865250	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:51865250T>A	ENST00000453097.2	+	14	2055	c.1838T>A	c.(1837-1839)cTg>cAg	p.L613Q	SLC4A8_ENST00000535225.2_Missense_Mutation_p.L560Q|SLC4A8_ENST00000394856.1_Missense_Mutation_p.L560Q|SLC4A8_ENST00000514353.3_Missense_Mutation_p.L560Q|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000358657.3_Missense_Mutation_p.L640Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.L613Q(2)|p.L560Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATAGAAAAACTGATTCACCTG	0.418																																						uc001rys.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(1837-1839)CTG>CAG		solute carrier family 4, sodium bicarbonate							130.0	126.0	127.0					12																	51865250		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51865250T>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1838T>A	12.37:g.51865250T>A	ENSP00000405812:p.Leu613Gln					SLC4A8_uc010sni.1_Missense_Mutation_p.L560Q|SLC4A8_uc001rym.2_Missense_Mutation_p.L560Q|SLC4A8_uc001ryn.2_Missense_Mutation_p.L560Q|SLC4A8_uc001ryo.2_Missense_Mutation_p.L560Q|SLC4A8_uc010snj.1_Missense_Mutation_p.L640Q|SLC4A8_uc001ryq.3_Missense_Mutation_p.L613Q|SLC4A8_uc001ryr.2_Missense_Mutation_p.L613Q|SLC4A8_uc010snk.1_Missense_Mutation_p.L560Q	p.L613Q	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	14	2016	+			613			Helical; (Potential).			Missense_Mutation	SNP	ENST00000453097.2	37	c.1838T>A	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496245	0.85069	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.33	5.33	0.75918	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	H	0.94698	3.57	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.991;1.0	D;D;D;D;D;D	0.91635	0.999;0.979;0.985;0.986;0.985;0.99	D	0.95702	0.8750	10	0.87932	D	0	.	14.5815	0.68295	0.0:0.0:0.0:1.0	.	560;640;560;613;613;613	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	Q	560;640;613;560;613;560;560	ENSP00000441520:L560Q;ENSP00000351483:L640Q;ENSP00000405812:L613Q;ENSP00000378325:L560Q;ENSP00000442561:L560Q	ENSP00000315789:L613Q	L	+	2	0	SLC4A8	50151517	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.147000	0.66899	0.460000	0.39030	CTG		PASS	0.418	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		34	118	34	118	---	---	---	---
RARG	5916	broad.mit.edu	37	12	53606961	53606961	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:53606961C>T	ENST00000425354.2	-	9	1572	c.1085G>A	c.(1084-1086)aGg>aAg	p.R362K	RARG_ENST00000543726.1_Missense_Mutation_p.R340K|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.R290K|RARG_ENST00000394426.1_Missense_Mutation_p.R362K|RARG_ENST00000338561.5_Missense_Mutation_p.R351K	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	362	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R362K(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCGTACAGCCTCAGGGCTTC	0.597											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sce.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(1084-1086)AGG>AAG		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						45.0	46.0	46.0					12																	53606961		2203	4299	6502	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53606961C>T	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.1085G>A	12.37:g.53606961C>T	ENSP00000388510:p.Arg362Lys		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_uc001scd.2_Missense_Mutation_p.R351K|RARG_uc010sob.1_Missense_Mutation_p.R340K|RARG_uc001scf.2_Missense_Mutation_p.R362K|RARG_uc001scg.2_Missense_Mutation_p.R290K|RARG_uc010soc.1_Missense_Mutation_p.R241K	p.R362K	NM_000966	NP_000957	P13631	RARG_HUMAN			9	1570	-			362			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.1085G>A	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	6.619	0.482630	0.12581	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726	D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03	5.42	3.55	0.40652	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.103470	0.64402	D	0.000008	D	0.82614	0.5075	N	0.01146	-0.985	0.40406	D	0.9797	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.003;0.001	T	0.76413	-0.2968	10	0.06625	T	0.88	.	4.301	0.10925	0.0:0.5917:0.1942:0.2142	.	340;362;351	B7Z4F1;P13631;F1D8P1	.;RARG_HUMAN;.	K	362;362;290;351;340	ENSP00000388510:R362K;ENSP00000377947:R362K;ENSP00000332695:R290K;ENSP00000343698:R351K;ENSP00000444335:R340K	ENSP00000332695:R290K	R	-	2	0	RARG	51893228	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	3.323000	0.52014	1.413000	0.46997	-0.302000	0.09304	AGG		PASS	0.597	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		22	53	22	53	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	56994532	56994532	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:56994532T>A	ENST00000551812.1	-	23	4734	c.4541A>T	c.(4540-4542)gAc>gTc	p.D1514V	BAZ2A_ENST00000379441.3_Missense_Mutation_p.D1484V|BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000179765.5_Missense_Mutation_p.D1482V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.D1512V	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1514					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D1514V(2)|p.D1550V(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CACTGCTAGGTCTGTCTCGTA	0.522																																						uc001slq.1																			3	Substitution - Missense(3)		lung(3)		0						c.(4540-4542)GAC>GTC		bromodomain adjacent to zinc finger domain, 2A							149.0	150.0	150.0					12																	56994532		2031	4193	6224	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56994532T>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4541A>T	12.37:g.56994532T>A	ENSP00000446880:p.Asp1514Val					BAZ2A_uc001slp.1_Missense_Mutation_p.D1512V|BAZ2A_uc001slo.1_Missense_Mutation_p.D320V|BAZ2A_uc009zov.1_Missense_Mutation_p.D480V|BAZ2A_uc009zow.1_Missense_Mutation_p.D1482V	p.D1514V	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			23	4735	-			1514					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.4541A>T	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.51|15.51	2.854541|2.854541	0.51376|0.51376	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884|ENST00000547453	T;T;T;T;T|.	0.80653|.	-1.14;-1.14;-1.22;-1.4;-1.22|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73938|0.73938	0.3651|0.3651	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.997;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.98;0.998;0.999|.	T|T	0.74639|0.74639	-0.3598|-0.3598	10|5	0.87932|.	D|.	0|.	-37.8877|-37.8877	14.4634|14.4634	0.67467|0.67467	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1512;1510;1514;1487|.	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2|.	.;.;BAZ2A_HUMAN;.|.	V|S	1484;1482;1514;446;1512|160	ENSP00000368754:D1484V;ENSP00000179765:D1482V;ENSP00000446880:D1514V;ENSP00000448760:D446V;ENSP00000447941:D1512V|.	ENSP00000179765:D1482V|.	D|R	-|-	2|3	0|2	BAZ2A|BAZ2A	55280799|55280799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.259000|0.259000	0.26198|0.26198	5.512000|5.512000	0.67030|0.67030	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	GAC|AGA		PASS	0.522	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		76	214	76	214	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57538835	57538835	+	Missense_Mutation	SNP	G	G	A	rs75873762		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:57538835G>A	ENST00000243077.3	+	5	995	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	LRP1_ENST00000338962.4_Missense_Mutation_p.E177K|LRP1_ENST00000553277.1_Missense_Mutation_p.E177K|LRP1_ENST00000554174.1_Missense_Mutation_p.E177K|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	177	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.E177K(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGCTGTGTTGAAGGATACCT	0.562																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(529-531)GAA>AAA		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						78.0	67.0	71.0					12																	57538835		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57538835G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.529G>A	12.37:g.57538835G>A	ENSP00000243077:p.Glu177Lys					LRP1_uc010sre.1_Missense_Mutation_p.E177K|LRP1_uc001snb.2_Missense_Mutation_p.E177K|LRP1_uc001snc.1_Missense_Mutation_p.E177K	p.E177K	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	5	995	+			177			EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.529G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887651	0.72410	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.97505	-2.0;-4.41;-2.0;-2.0	5.08	5.08	0.68730	EGF-like region, conserved site (1);EGF-like calcium-binding (2);	0.071325	0.52532	D	0.000062	D	0.96932	0.8998	L	0.37466	1.105	0.58432	D	0.999997	D;D;D;D	0.89917	0.997;0.997;1.0;0.999	D;D;D;D	0.83275	0.992;0.992;0.993;0.996	D	0.94636	0.7826	10	0.14656	T	0.56	.	16.3808	0.83460	0.0:0.0:1.0:0.0	.	177;177;177;177	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	K	177	ENSP00000451449:E177K;ENSP00000243077:E177K;ENSP00000341264:E177K;ENSP00000451737:E177K	ENSP00000243077:E177K	E	+	1	0	LRP1	55825102	1.000000	0.71417	0.886000	0.34754	0.024000	0.10985	9.553000	0.98118	2.826000	0.97356	0.655000	0.94253	GAA		PASS	0.562	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		21	60	21	60	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57599412	57599412	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:57599412A>T	ENST00000243077.3	+	75	12008	c.11542A>T	c.(11542-11544)Agc>Tgc	p.S3848C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3848	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.S3848C(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACCTCTGCAGCTGCGCTCG	0.622																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(11542-11544)AGC>TGC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						74.0	71.0	72.0					12																	57599412		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57599412A>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11542A>T	12.37:g.57599412A>T	ENSP00000243077:p.Ser3848Cys						p.S3848C	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	75	12008	+			3848			Extracellular (Potential).|EGF-like 15.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11542A>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.350512	0.61183	.	.	ENSG00000123384	ENST00000243077	D	0.90676	-2.71	4.42	4.42	0.53409	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.056704	0.64402	D	0.000002	D	0.92485	0.7614	M	0.88704	2.975	0.80722	D	1	D	0.57257	0.979	P	0.46975	0.533	D	0.92678	0.6156	10	0.42905	T	0.14	.	13.0632	0.59018	1.0:0.0:0.0:0.0	.	3848	Q07954	LRP1_HUMAN	C	3848	ENSP00000243077:S3848C	ENSP00000243077:S3848C	S	+	1	0	LRP1	55885679	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.970000	0.70431	1.998000	0.58463	0.459000	0.35465	AGC		PASS	0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		32	68	32	68	---	---	---	---
XRCC6BP1	91419	broad.mit.edu	37	12	58340811	58340811	+	Silent	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:58340811A>G	ENST00000300145.3	+	3	392	c.267A>G	c.(265-267)gaA>gaG	p.E89E		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	89					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E89E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						TTTCTTGCGAAGACTGTAATG	0.413																																						uc001sqp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(265-267)GAA>GAG		XRCC6 binding protein 1							204.0	191.0	195.0					12																	58340811		1893	4124	6017	SO:0001819	synonymous_variant	91419				double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity	g.chr12:58340811A>G	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.267A>G	12.37:g.58340811A>G							p.E89E	NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN			3	307	+			89					Q1RLM4|Q96E81	Silent	SNP	ENST00000300145.3	37	c.267A>G	CCDS41802.1																																																																																				PASS	0.413	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276		63	139	63	139	---	---	---	---
IRAK3	11213	broad.mit.edu	37	12	66597554	66597554	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:66597554A>G	ENST00000261233.4	+	2	618	c.197A>G	c.(196-198)aAa>aGa	p.K66R	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.K66R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GACCAAGGTAAAAGTGGAACA	0.418																																						uc001sth.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(196-198)AAA>AGA		interleukin-1 receptor-associated kinase 3							93.0	87.0	89.0					12																	66597554		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66597554A>G	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.197A>G	12.37:g.66597554A>G	ENSP00000261233:p.Lys66Arg					IRAK3_uc010ssy.1_Intron	p.K66R	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	2	299	+			66			Death.			Missense_Mutation	SNP	ENST00000261233.4	37	c.197A>G	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674220	0.29693	.	.	ENSG00000090376	ENST00000261233	D	0.84730	-1.89	5.93	3.62	0.41486	Death (3);DEATH-like (2);	0.199912	0.41712	N	0.000836	T	0.71609	0.3360	N	0.22421	0.69	0.80722	D	1	B	0.30281	0.275	B	0.29785	0.107	T	0.63571	-0.6607	9	.	.	.	-23.5388	6.787	0.23679	0.8235:0.0:0.1765:0.0	.	66	Q9Y616	IRAK3_HUMAN	R	66	ENSP00000261233:K66R	.	K	+	2	0	IRAK3	64883821	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	2.073000	0.41519	1.083000	0.41159	-0.326000	0.08463	AAA		PASS	0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			23	88	23	88	---	---	---	---
GRIP1	23426	broad.mit.edu	37	12	66932885	66932885	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:66932885C>G	ENST00000398016.3	-	4	459	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	GRIP1_ENST00000359742.4_Missense_Mutation_p.E131Q|GRIP1_ENST00000286445.7_Missense_Mutation_p.E131Q	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.E131Q(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TACTCTACTTCAAGAACCACT	0.488																																						uc001stk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(391-393)GAA>CAA		glutamate receptor interacting protein 1							199.0	188.0	192.0					12																	66932885		1933	4135	6068	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66932885C>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.391G>C	12.37:g.66932885C>G	ENSP00000381098:p.Glu131Gln					GRIP1_uc010sta.1_Missense_Mutation_p.E75Q|GRIP1_uc001stl.1_Missense_Mutation_p.E75Q|GRIP1_uc001stm.2_Missense_Mutation_p.E131Q	p.E131Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	4	632	-			131			PDZ 1.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.391G>C	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949486	0.53186	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000540854;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.97;1.62;1.62;1.62;1.62;1.62;1.62;1.62	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	L	0.28608	0.87	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.99	D;D;P	0.74023	0.982;0.913;0.876	T	0.25950	-1.0117	9	.	.	.	-19.9289	17.7295	0.88373	0.0:1.0:0.0:0.0	.	131;131;131	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	Q	131;131;131;2;131;75;75;104;75;75;157	ENSP00000381098:E131Q;ENSP00000352780:E131Q;ENSP00000286445:E131Q;ENSP00000443006:E2Q;ENSP00000446047:E131Q;ENSP00000446024:E75Q;ENSP00000446011:E75Q;ENSP00000439124:E104Q;ENSP00000438500:E75Q;ENSP00000443392:E75Q;ENSP00000438921:E157Q	.	E	-	1	0	GRIP1	65219152	1.000000	0.71417	0.996000	0.52242	0.026000	0.11368	7.818000	0.86416	2.263000	0.75096	0.467000	0.42956	GAA		PASS	0.488	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			60	120	60	120	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101738501	101738501	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:101738501G>C	ENST00000261637.4	+	36	4752	c.4578G>C	c.(4576-4578)ttG>ttC	p.L1526F		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1526					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L1526F(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGGAGAAATTGAGAAAAGGTC	0.423																																						uc001tia.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(4576-4578)TTG>TTC		down-regulated in metastasis							107.0	101.0	103.0					12																	101738501		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101738501G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.4578G>C	12.37:g.101738501G>C	ENSP00000261637:p.Leu1526Phe						p.L1526F	NM_014503	NP_055318	O75691	UTP20_HUMAN			36	4734	+			1526					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.4578G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617788	0.66787	.	.	ENSG00000120800	ENST00000261637	T	0.74737	-0.87	5.85	4.03	0.46877	Armadillo-type fold (1);	0.143817	0.47455	D	0.000234	T	0.80138	0.4568	M	0.66939	2.045	0.48571	D	0.999671	D	0.62365	0.991	P	0.54924	0.764	T	0.81360	-0.0968	10	0.72032	D	0.01	-4.496	12.7663	0.57393	0.1331:0.0:0.8669:0.0	.	1526	O75691	UTP20_HUMAN	F	1526	ENSP00000261637:L1526F	ENSP00000261637:L1526F	L	+	3	2	UTP20	100262632	1.000000	0.71417	0.973000	0.42090	0.817000	0.46193	3.990000	0.56965	0.822000	0.34565	0.655000	0.94253	TTG		PASS	0.423	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		43	105	43	105	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104171701	104171701	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:104171701G>A	ENST00000392876.3	-	14	1593	c.1553C>T	c.(1552-1554)cCc>cTc	p.P518L		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	518						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.P518L(1)|p.P443L(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGTCCTCCGGGGGTAGAAAGT	0.612																																						uc010swe.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1552-1554)CCC>CTC		5'-nucleotidase domain containing 3							64.0	68.0	67.0					12																	104171701		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104171701G>A	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1553C>T	12.37:g.104171701G>A	ENSP00000376615:p.Pro518Leu					NT5DC3_uc010swd.1_5'Flank	p.P518L	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			14	1594	-			518					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.1553C>T	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.612087	0.96637	.	.	ENSG00000111696	ENST00000392876	T	0.23754	1.89	5.8	5.8	0.92144	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68796	-0.5314	10	0.87932	D	0	-29.0074	20.063	0.97692	0.0:0.0:1.0:0.0	.	518	Q86UY8	NT5D3_HUMAN	L	518	ENSP00000376615:P518L	ENSP00000376615:P518L	P	-	2	0	NT5DC3	102695831	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.420000	0.97426	2.735000	0.93741	0.655000	0.94253	CCC		PASS	0.612	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		41	87	41	87	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111729337	111729337	+	Silent	SNP	C	C	T	rs200963731	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:111729337C>T	ENST00000261726.6	+	5	571	c.417C>T	c.(415-417)ccC>ccT	p.P139P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	139					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.P139P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGAGGAACCCCGAGCTCCTCA	0.592													c|||	2	0.000399361	0.0015	0.0	5008	,	,		17149	0.0		0.0	False		,,,				2504	0.0					uc001tsa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(415-417)CCC>CCT		cut-like 2				12,3766		0,12,1877	36.0	41.0	40.0		417	-9.4	0.6	12		40	0,8242		0,0,4121	no	coding-synonymous	CUX2	NM_015267.3		0,12,5998	TT,TC,CC		0.0,0.3176,0.0998		139/1487	111729337	12,12008	1889	4121	6010	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111729337C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.417C>T	12.37:g.111729337C>T						CUX2_uc001tsb.1_Silent_p.P194P	p.P139P	NM_015267	NP_056082	O14529	CUX2_HUMAN			5	570	+			139					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.417C>T	CCDS41837.1																																																																																				PASS	0.592	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		19	52	19	52	---	---	---	---
PTPN11	5781	broad.mit.edu	37	12	112888210	112888210	+	Missense_Mutation	SNP	G	G	A	rs121918464		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:112888210G>A	ENST00000351677.2	+	3	424	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PTPN11_ENST00000392597.1_Missense_Mutation_p.E76K	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	76	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		E -> A (in JMML; also in myelodysplastic syndrome). {ECO:0000269|PubMed:12717436}.|E -> D (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12634870}.|E -> G (in JMML). {ECO:0000269|PubMed:12717436}.|E -> K (in JMML; dbSNP:rs28933388). {ECO:0000269|PubMed:12717436}.|E -> V (in JMML). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.E76K(74)|p.E76Q(13)|p.E76M(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CACTTTGGCTGAGTTGGTCCA	0.423			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													uc001ttx.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		88	Substitution - Missense(88)	p.E76K(68)|p.E76G(31)|p.E76Q(11)|p.E76V(10)|p.E76A(7)|p.E76M(1)	haematopoietic_and_lymphoid_tissue(86)|lung(1)|soft_tissue(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						c.(226-228)GAG>AAG		protein tyrosine phosphatase, non-receptor type							149.0	136.0	140.0					12																	112888210		2203	4300	6503	SO:0001583	missense	5781	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112888210G>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.226G>A	12.37:g.112888210G>A	ENSP00000340944:p.Glu76Lys					PTPN11_uc001ttw.1_Missense_Mutation_p.E76K	p.E76K	NM_002834	NP_002825	Q06124	PTN11_HUMAN			3	606	+			76		E -> D (in NS1).|E -> V (in JMML).|E -> A (in JMML; also in myelodysplastic syndrome).|E -> G (in JMML).	SH2 1.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.226G>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718008	0.96839	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.97138	-4.26;-4.26	5.9	5.9	0.94986	.	0.047680	0.85682	D	0.000000	D	0.98451	0.9484	M	0.82630	2.6	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.63877	0.919;0.919	D	0.98965	1.0799	10	0.87932	D	0	.	20.2787	0.98501	0.0:0.0:1.0:0.0	rs28933388	76;76	Q06124-2;Q06124-3	.;.	K	76	ENSP00000376376:E76K;ENSP00000340944:E76K	ENSP00000340944:E76K	E	+	1	0	PTPN11	111372593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.860000	0.99555	2.798000	0.96311	0.650000	0.86243	GAG		PASS	0.423	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			47	145	47	145	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122676112	122676112	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr12:122676112G>A	ENST00000339777.4	+	6	1115	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	LRRC43_ENST00000425921.1_Missense_Mutation_p.E178K	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	363	Glu-rich.							p.E363K(2)|p.E178K(2)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CGTCCTGGCCGAGGTGTGCCC	0.483											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009zxm.2																			4	Substitution - Missense(4)		lung(2)|endometrium(2)		0						c.(1087-1089)GAG>AAG		leucine rich repeat containing 43 isoform 1							64.0	65.0	65.0					12																	122676112		1895	4111	6006	SO:0001583	missense	254050							g.chr12:122676112G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1087G>A	12.37:g.122676112G>A	ENSP00000344233:p.Glu363Lys		OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1520	LRRC43_uc001ubw.3_Missense_Mutation_p.E178K|LRRC43_uc009zxn.2_Missense_Mutation_p.E124K	p.E363K	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	6	1112	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		363			Glu-rich.		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1087G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028791	0.75504	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.58358	0.34;0.77	5.39	5.39	0.77823	.	0.270876	0.32273	N	0.006322	T	0.63355	0.2504	L	0.55990	1.75	0.42107	D	0.991365	D	0.67145	0.996	P	0.57009	0.811	T	0.62144	-0.6916	9	.	.	.	-27.2449	16.9498	0.86242	0.0:0.0:1.0:0.0	.	363	Q8N309	LRC43_HUMAN	K	363;234;178	ENSP00000344233:E363K;ENSP00000416628:E178K	.	E	+	1	0	LRRC43	121242065	0.995000	0.38212	0.942000	0.38095	0.483000	0.33249	2.644000	0.46613	2.548000	0.85928	0.591000	0.81541	GAG		PASS	0.483	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		29	91	29	91	---	---	---	---
CDK8	1024	broad.mit.edu	37	13	26923311	26923311	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr13:26923311G>A	ENST00000381527.3	+	3	810	c.307G>A	c.(307-309)Gac>Aac	p.D103N	CDK8_ENST00000536792.1_Missense_Mutation_p.D103N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.D103N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TGCTGAACATGACCTCTGGGT	0.413																																						uc001uqr.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(307-309)GAC>AAC		cyclin-dependent kinase 8							187.0	165.0	173.0					13																	26923311		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26923311G>A	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.307G>A	13.37:g.26923311G>A	ENSP00000370938:p.Asp103Asn					CDK8_uc001uqs.1_Missense_Mutation_p.D103N|CDK8_uc001uqt.1_5'UTR	p.D103N	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	3	333	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	103			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.307G>A	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030934	0.93575	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.49720	0.77;0.77	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	L	0.60455	1.87	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.68039	0.925;0.955	T	0.69409	-0.5153	10	0.87932	D	0	-12.7271	18.2519	0.90006	0.0:0.0:1.0:0.0	.	103;103	P49336-2;P49336	.;CDK8_HUMAN	N	103	ENSP00000370938:D103N;ENSP00000437696:D103N	ENSP00000370938:D103N	D	+	1	0	CDK8	25821311	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.304000	0.77564	0.467000	0.42956	GAC		PASS	0.413	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			48	82	48	82	---	---	---	---
CDX2	1045	broad.mit.edu	37	13	28542963	28542963	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr13:28542963G>A	ENST00000381020.7	-	1	2313	c.181C>T	c.(181-183)Ccg>Tcg	p.P61S	CDX2_ENST00000548877.1_5'Flank	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	61					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P61S(1)		endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GATGGCCCCGGGGACTGCGCG	0.736			T	ETV6	AML																																	uc001urv.2				Dom	yes		13	13q12.3	1045	T	caudal type homeo box transcription factor 2			L	ETV6		AML		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(181-183)CCG>TCG		caudal type homeobox 2							8.0	11.0	10.0					13																	28542963		2154	4248	6402	SO:0001583	missense	1045				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28542963G>A	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.181C>T	13.37:g.28542963G>A	ENSP00000370408:p.Pro61Ser						p.P61S	NM_001265	NP_001256	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	1	355	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	61					O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	ENST00000381020.7	37	c.181C>T	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842155	0.32513	.	.	ENSG00000165556	ENST00000381020	T	0.46451	0.87	4.5	4.5	0.54988	Caudal-like activation domain (1);	0.109668	0.41001	N	0.000968	T	0.34048	0.0884	L	0.36672	1.1	0.34398	D	0.694966	B	0.31519	0.327	B	0.39617	0.305	T	0.41520	-0.9504	10	0.19147	T	0.46	-25.0259	8.4682	0.32969	0.1747:0.0:0.8253:0.0	.	61	Q99626	CDX2_HUMAN	S	61	ENSP00000370408:P61S	ENSP00000370408:P61S	P	-	1	0	CDX2	27440963	0.126000	0.22350	0.997000	0.53966	0.600000	0.36913	1.114000	0.31196	2.331000	0.79229	0.407000	0.27541	CCG		PASS	0.736	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			4	5	4	5	---	---	---	---
NEK5	341676	broad.mit.edu	37	13	52639728	52639728	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr13:52639728C>A	ENST00000355568.4	-	22	2081	c.1942G>T	c.(1942-1944)Gta>Tta	p.V648L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	648					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V648L(1)|p.V680L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACAGCAGCTACAGTCTGCGTG	0.527																																						uc001vge.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(1942-1944)GTA>TTA		NIMA-related kinase 5							50.0	47.0	48.0					13																	52639728		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52639728C>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1942G>T	13.37:g.52639728C>A	ENSP00000347767:p.Val648Leu						p.V648L	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	22	2082	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	648					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1942G>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312809	0.23908	.	.	ENSG00000197168	ENST00000355568	T	0.70869	-0.52	5.07	4.19	0.49359	.	0.674469	0.13407	N	0.390165	T	0.49098	0.1537	N	0.12182	0.205	0.09310	N	1	B	0.22003	0.063	B	0.17433	0.018	T	0.30765	-0.9967	10	0.17369	T	0.5	.	8.5638	0.33527	0.0:0.8909:0.0:0.1091	.	648	Q6P3R8	NEK5_HUMAN	L	648	ENSP00000347767:V648L	ENSP00000347767:V648L	V	-	1	0	NEK5	51537729	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.041000	0.12084	1.295000	0.44724	0.563000	0.77884	GTA		PASS	0.527	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		23	34	23	34	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67205442	67205442	+	Silent	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr13:67205442G>T	ENST00000377865.2	-	3	3374	c.3240C>A	c.(3238-3240)atC>atA	p.I1080I	RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000456367.1_Silent_p.I1046I|PCDH9_ENST00000544246.1_Silent_p.I1080I|PCDH9_ENST00000328454.5_Silent_p.I1046I			Q9HC56	PCDH9_HUMAN	protocadherin 9	1080					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I1080I(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGGGTGTGAGATCAGGGTTC	0.562																																						uc001vik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(3238-3240)ATC>ATA		protocadherin 9 isoform 1 precursor							137.0	118.0	124.0					13																	67205442		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67205442G>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3240C>A	13.37:g.67205442G>T						PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.I1046I|PCDH9_uc010thl.1_Intron	p.I1080I	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	4	3932	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1080			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.3240C>A	CCDS9444.1																																																																																				PASS	0.562	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		42	51	42	51	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70293566	70293566	+	Nonsense_Mutation	SNP	A	A	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr13:70293566A>C	ENST00000377844.4	-	9	2709	c.1950T>G	c.(1948-1950)taT>taG	p.Y650*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.Y457*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	650					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.Y650*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCCTACTGCATAAAGAAAAC	0.463																																						uc001vip.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1948-1950)TAT>TAG		kelch-like 1 protein							131.0	119.0	123.0					13																	70293566		2203	4300	6503	SO:0001587	stop_gained	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70293566A>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1950T>G	13.37:g.70293566A>C	ENSP00000367075:p.Tyr650*					KLHL1_uc010thm.1_Nonsense_Mutation_p.Y589*	p.Y650*	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	9	2744	-		Breast(118;0.000162)	650			Kelch 5.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Nonsense_Mutation	SNP	ENST00000377844.4	37	c.1950T>G	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	A	40	8.493177	0.98836	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	.	.	.	5.68	3.21	0.36854	.	0.000000	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3369	0.43854	0.864:0.0:0.136:0.0	.	.	.	.	X	650;457	.	ENSP00000367075:Y650X	Y	-	3	2	KLHL1	69191567	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.264000	0.51553	0.969000	0.38237	-0.441000	0.05720	TAT		PASS	0.463	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		41	69	41	69	---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78492548	78492548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr13:78492548C>T	ENST00000334286.5	-	1	397	c.161G>A	c.(160-162)tGg>tAg	p.W54*	EDNRB_ENST00000377211.4_Nonsense_Mutation_p.W144*|EDNRB_ENST00000475537.1_5'UTR|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Nonsense_Mutation_p.W54*	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	54					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.W54*(1)|p.W144*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ACCCTTGGGCCATAAGGTCTT	0.622																																						uc001vko.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(160-162)TGG>TAG		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						71.0	74.0	73.0					13																	78492548		2203	4300	6503	SO:0001587	stop_gained	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492548C>T	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.161G>A	13.37:g.78492548C>T	ENSP00000335311:p.Trp54*					uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Nonsense_Mutation_p.W54*|EDNRB_uc010aez.1_Nonsense_Mutation_p.W54*|EDNRB_uc001vkp.1_Nonsense_Mutation_p.W137*|EDNRB_uc010afa.1_Nonsense_Mutation_p.W54*	p.W54*	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	1	419	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	54			Extracellular (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Nonsense_Mutation	SNP	ENST00000334286.5	37	c.161G>A	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091623	0.55968	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	.	.	.	4.42	3.57	0.40892	.	1.223970	0.05333	N	0.528604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-0.1614	6.5423	0.22387	0.0:0.7149:0.1828:0.1022	.	.	.	.	X	144;54;54	.	ENSP00000335311:W54X	W	-	2	0	EDNRB	77390549	0.004000	0.15560	0.018000	0.16275	0.168000	0.22595	0.774000	0.26675	0.976000	0.38417	0.591000	0.81541	TGG		PASS	0.622	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			36	56	36	56	---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	97995296	97995296	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr13:97995296A>G	ENST00000376673.3	+	4	1147	c.366A>G	c.(364-366)atA>atG	p.I122M	MBNL2_ENST00000345429.6_Missense_Mutation_p.I122M|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000397601.1_Missense_Mutation_p.I122M|MBNL2_ENST00000343600.4_Missense_Mutation_p.I122M			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	122					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I122M(2)		endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			GTCCCGCGATAGGGACAAATA	0.443																																						uc010aft.2																			2	Substitution - Missense(2)		lung(2)		0						c.(364-366)ATA>ATG		muscleblind-like 2 isoform 1							79.0	73.0	75.0					13																	97995296		2203	4300	6503	SO:0001583	missense	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97995296A>G	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.366A>G	13.37:g.97995296A>G	ENSP00000365861:p.Ile122Met					MBNL2_uc001vmz.2_Missense_Mutation_p.I122M|MBNL2_uc001vna.2_Missense_Mutation_p.I122M|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron	p.I122M	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		4	1182	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		122					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37	c.366A>G		.	.	.	.	.	.	.	.	.	.	A	13.80	2.345337	0.41498	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.42	1.11	0.20524	.	0.109641	0.64402	D	0.000005	T	0.26882	0.0658	L	0.38175	1.15	0.80722	D	1	B;P;B	0.34780	0.002;0.468;0.002	B;B;B	0.28139	0.007;0.086;0.007	T	0.06391	-1.0829	10	0.56958	D	0.05	.	8.116	0.30944	0.6126:0.2619:0.0:0.1255	.	122;122;122	Q5VZF2;A2A3S3;Q5VZF2-2	MBNL2_HUMAN;.;.	M	122	ENSP00000380726:I122M;ENSP00000344214:I122M;ENSP00000267287:I122M;ENSP00000365861:I122M	ENSP00000344214:I122M	I	+	3	3	MBNL2	96793297	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	1.828000	0.39111	0.379000	0.24794	0.528000	0.53228	ATA		PASS	0.443	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		19	51	19	51	---	---	---	---
LAMP1	3916	broad.mit.edu	37	13	113975735	113975735	+	Missense_Mutation	SNP	G	G	T	rs201021547		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr13:113975735G>T	ENST00000332556.4	+	7	1087	c.893G>T	c.(892-894)cGg>cTg	p.R298L	LAMP1_ENST00000397181.3_Missense_Mutation_p.R245L	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	298	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)	p.R298L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AGTTCTAGCCGGTTTTTCCTA	0.463																																						uc001vtm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(892-894)CGG>CTG		lysosomal-associated membrane protein 1							89.0	90.0	89.0					13																	113975735		1841	4085	5926	SO:0001583	missense	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113975735G>T	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.893G>T	13.37:g.113975735G>T	ENSP00000333298:p.Arg298Leu					LAMP1_uc010tka.1_Missense_Mutation_p.R245L	p.R298L	NM_005561	NP_005552	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		7	1174	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	298			Lumenal (Potential).|Second lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	c.893G>T	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	G	4.149	0.026136	0.08054	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.33865	1.39;1.39	5.29	-3.71	0.04424	.	0.480390	0.23622	N	0.046227	T	0.17874	0.0429	N	0.25094	0.71	0.09310	N	1	B;B	0.17465	0.016;0.022	B;B	0.19946	0.008;0.027	T	0.14952	-1.0454	10	0.25106	T	0.35	-6.351	7.2241	0.26005	0.6859:0.0:0.1711:0.143	.	245;298	B4DWL3;P11279	.;LAMP1_HUMAN	L	298;245	ENSP00000333298:R298L;ENSP00000415354:R245L	ENSP00000333298:R298L	R	+	2	0	LAMP1	113023736	0.004000	0.15560	0.027000	0.17364	0.018000	0.09664	-0.403000	0.07214	-0.640000	0.05495	-0.291000	0.09656	CGG		PASS	0.463	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			45	74	45	74	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295656	20295656	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:20295656C>A	ENST00000315947.1	+	1	49	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	OR4N2_ENST00000568211.1_Missense_Mutation_p.L17M	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L17M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTCCTTGGTCTGACCCAGTC	0.378																																						uc010tkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(49-51)CTG>ATG		olfactory receptor, family 4, subfamily N,							149.0	164.0	159.0					14																	20295656		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295656C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.49C>A	14.37:g.20295656C>A	ENSP00000319601:p.Leu17Met						p.L17M	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	49	+	all_cancers(95;0.00108)		17			Extracellular (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.49C>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	12.25	1.882541	0.33255	.	.	ENSG00000176294	ENST00000557414;ENST00000557677;ENST00000315947	T;T;T	0.01099	5.34;8.04;8.04	4.41	2.6	0.31112	.	0.000000	0.38272	N	0.001758	T	0.07369	0.0186	M	0.89601	3.045	0.09310	N	0.999991	D	0.89917	1.0	D	0.83275	0.996	T	0.03651	-1.1016	10	0.87932	D	0	-11.3685	8.9221	0.35619	0.0:0.814:0.0:0.186	.	17	Q8NGD1	OR4N2_HUMAN	M	17	ENSP00000451462:L17M;ENSP00000452022:L17M;ENSP00000319601:L17M	ENSP00000319601:L17M	L	+	1	2	OR4N2	19365496	0.000000	0.05858	0.105000	0.21289	0.574000	0.36063	-0.034000	0.12225	0.605000	0.29947	-0.194000	0.12790	CTG		PASS	0.378	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			44	183	44	183	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295971	20295971	+	Missense_Mutation	SNP	C	C	A	rs368630542		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:20295971C>A	ENST00000315947.1	+	1	364	c.364C>A	c.(364-366)Cgc>Agc	p.R122S	OR4N2_ENST00000568211.1_Missense_Mutation_p.R122S	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122S(2)|p.R122C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCTTTGACCGCTACATCGC	0.507																																						uc010tkv.1																			3	Substitution - Missense(3)		lung(2)|haematopoietic_and_lymphoid_tissue(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(364-366)CGC>AGC		olfactory receptor, family 4, subfamily N,		C	SER/ARG	0,4406		0,0,2203	155.0	165.0	162.0		364	3.6	1.0	14		162	1,8599		0,1,4299	no	missense	OR4N2	NM_001004723.1	110	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	122/308	20295971	1,13005	2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295971C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.364C>A	14.37:g.20295971C>A	ENSP00000319601:p.Arg122Ser						p.R122S	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	364	+	all_cancers(95;0.00108)		122			Cytoplasmic (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.364C>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	17.68	3.449880	0.63290	0.0	1.16E-4	ENSG00000176294	ENST00000557677;ENST00000315947	D;T	0.97161	-4.27;-1.11	4.53	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000113	D	0.98365	0.9457	H	0.97587	4.035	0.30472	N	0.773207	D	0.54772	0.968	P	0.56916	0.809	D	0.96356	0.9262	10	0.87932	D	0	-14.9923	5.6624	0.17676	0.1938:0.7053:0.0:0.1008	.	122	Q8NGD1	OR4N2_HUMAN	S	122	ENSP00000452022:R122S;ENSP00000319601:R122S	ENSP00000319601:R122S	R	+	1	0	OR4N2	19365811	0.728000	0.28080	1.000000	0.80357	0.999000	0.98932	0.171000	0.16685	1.244000	0.43870	0.591000	0.81541	CGC		PASS	0.507	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			58	145	58	145	---	---	---	---
OR4L1	122742	broad.mit.edu	37	14	20528917	20528917	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:20528917C>A	ENST00000315683.1	+	1	714	c.714C>A	c.(712-714)tcC>tcA	p.S238S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S238S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGCGCTGTCCACATTGTCTG	0.423																																						uc001vwn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(712-714)TCC>TCA		olfactory receptor, family 4, subfamily L,							180.0	163.0	169.0					14																	20528917		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528917C>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.714C>A	14.37:g.20528917C>A							p.S238S	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	714	+	all_cancers(95;0.00108)		238			Helical; Name=6; (Potential).		Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.714C>A	CCDS32029.1																																																																																				PASS	0.423	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			32	123	32	123	---	---	---	---
OR4L1	122742	broad.mit.edu	37	14	20528919	20528919	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:20528919C>A	ENST00000315683.1	+	1	716	c.716C>A	c.(715-717)aCa>aAa	p.T239K		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T239K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GCGCTGTCCACATTGTCTGCC	0.428																																						uc001vwn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(715-717)ACA>AAA		olfactory receptor, family 4, subfamily L,							180.0	162.0	168.0					14																	20528919		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528919C>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.716C>A	14.37:g.20528919C>A	ENSP00000319217:p.Thr239Lys						p.T239K	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	716	+	all_cancers(95;0.00108)		239			Helical; Name=6; (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.716C>A	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	17.76	3.469003	0.63625	.	.	ENSG00000176246	ENST00000315683	T	0.35605	1.3	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000045	T	0.76842	0.4044	H	0.99770	4.765	0.36917	D	0.891217	D	0.89917	1.0	D	0.85130	0.997	D	0.89083	0.3477	10	0.87932	D	0	.	14.2741	0.66167	0.0:1.0:0.0:0.0	.	239	Q8NH43	OR4L1_HUMAN	K	239	ENSP00000319217:T239K	ENSP00000319217:T239K	T	+	2	0	OR4L1	19598759	0.999000	0.42202	0.998000	0.56505	0.725000	0.41563	4.200000	0.58433	2.306000	0.77630	0.650000	0.86243	ACA		PASS	0.428	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			28	124	28	124	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21860938	21860938	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:21860938C>A	ENST00000557364.1	-	34	6762	c.6499G>T	c.(6499-6501)Gtc>Ttc	p.V2167F	CHD8_ENST00000430710.3_Missense_Mutation_p.V1888F|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000399982.2_Missense_Mutation_p.V2167F|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2167					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.V2167F(1)|p.V2167I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCCTGGCAGACGAGGTCAATA	0.483																																						uc001was.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(5662-5664)GTC>TTC		chromodomain helicase DNA binding protein 8							137.0	135.0	135.0					14																	21860938		1967	4176	6143	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860938C>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6499G>T	14.37:g.21860938C>A	ENSP00000451601:p.Val2167Phe					CHD8_uc001war.1_Missense_Mutation_p.V1784F|SNORD9_uc001wat.1_5'Flank	p.V1888F	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	34	5756	-	all_cancers(95;0.00121)		2167					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.5662G>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695341	0.30052	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553870	D;D;D;T	0.90844	-2.73;-2.74;-2.74;1.64	5.34	4.45	0.53987	.	0.146062	0.46442	D	0.000294	D	0.85301	0.5665	N	0.22421	0.69	0.42929	D	0.994313	B	0.30104	0.268	B	0.34536	0.185	D	0.85057	0.0932	10	0.87932	D	0	-8.1465	13.3506	0.60599	0.0:0.9219:0.0:0.078	.	1888	Q9HCK8-2	.	F	1888;2167;1887;2167;4	ENSP00000406288:V1888F;ENSP00000382863:V2167F;ENSP00000451601:V2167F;ENSP00000451071:V4F	ENSP00000262707:V1887F	V	-	1	0	CHD8	20930778	0.638000	0.27225	1.000000	0.80357	0.999000	0.98932	0.991000	0.29654	1.449000	0.47699	0.655000	0.94253	GTC		PASS	0.483	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		39	97	39	97	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23902340	23902340	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:23902340C>A	ENST00000355349.3	-	4	460	c.298G>T	c.(298-300)Gcg>Tcg	p.A100S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	100	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.A100S(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TAGAGCACCGCGGGCTCATGC	0.567																																						uc001wjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(298-300)GCG>TCG		myosin, heavy chain 7, cardiac muscle, beta							259.0	177.0	205.0					14																	23902340		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23902340C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.298G>T	14.37:g.23902340C>A	ENSP00000347507:p.Ala100Ser						p.A100S	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	4	404	-	all_cancers(95;2.54e-05)		100			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.298G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	11.66	1.705659	0.30232	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.86769	-2.17	3.76	3.76	0.43208	Myosin head, motor domain (2);	.	.	.	.	T	0.74680	0.3748	N	0.02985	-0.445	0.52099	D	0.999947	B	0.18166	0.026	B	0.38020	0.263	T	0.67496	-0.5656	9	0.02654	T	1	.	16.1486	0.81594	0.0:1.0:0.0:0.0	.	100	P12883	MYH7_HUMAN	S	100	ENSP00000347507:A100S	ENSP00000347507:A100S	A	-	1	0	MYH7	22972180	0.963000	0.33076	0.116000	0.21606	0.992000	0.81027	2.267000	0.43329	2.095000	0.63458	0.455000	0.32223	GCG		PASS	0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		35	78	35	78	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30135294	30135294	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:30135294A>T	ENST00000331968.5	-	3	753	c.524T>A	c.(523-525)cTt>cAt	p.L175H	PRKD1_ENST00000415220.2_Missense_Mutation_p.L175H	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	175					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.L175H(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTCACATTTAAGACCTTGACG	0.423																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(523-525)CTT>CAT		protein kinase D1							147.0	134.0	138.0					14																	30135294		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30135294A>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.524T>A	14.37:g.30135294A>T	ENSP00000333568:p.Leu175His						p.L175H	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	3	705	-	Hepatocellular(127;0.0604)		175			Phorbol-ester/DAG-type 1.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.524T>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312401	0.81358	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	D;D;D	0.94184	-3.37;-3.37;-3.37	5.53	5.53	0.82687	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.64402	D	0.000002	D	0.97636	0.9225	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98821	1.0747	10	0.87932	D	0	-20.704	15.6511	0.77095	1.0:0.0:0.0:0.0	.	175	Q15139	KPCD1_HUMAN	H	175;175;98	ENSP00000333568:L175H;ENSP00000390535:L175H;ENSP00000446866:L98H	ENSP00000333568:L175H	L	-	2	0	PRKD1	29205045	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.287000	0.95975	2.101000	0.63845	0.482000	0.46254	CTT		PASS	0.423	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		27	134	27	134	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47324238	47324238	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:47324238T>C	ENST00000399232.2	-	15	3029	c.2665A>G	c.(2665-2667)Act>Gct	p.T889A	MDGA2_ENST00000357362.3_Missense_Mutation_p.T660A|MDGA2_ENST00000439988.3_Missense_Mutation_p.T958A|MDGA2_ENST00000426342.1_Missense_Mutation_p.T660A|MDGA2_ENST00000399222.3_Missense_Mutation_p.T91A	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	889	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T660A(2)|p.T958A(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGAAATGAAGTAATTGGGTAT	0.323																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2665-2667)ACT>GCT		MAM domain containing 1 isoform 1							133.0	122.0	125.0					14																	47324238		1816	4074	5890	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47324238T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2665A>G	14.37:g.47324238T>C	ENSP00000382178:p.Thr889Ala					MDGA2_uc001wwh.3_Missense_Mutation_p.T91A|MDGA2_uc001wwi.3_Missense_Mutation_p.T660A	p.T889A	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			15	2861	-			889			MAM.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2665A>G		.	.	.	.	.	.	.	.	.	.	T	10.84	1.465405	0.26335	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.02085	4.46;4.46;4.46;4.46;4.46	4.73	3.57	0.40892	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.122716	0.35378	U	0.003259	T	0.01627	0.0052	N	0.21097	0.63	0.35007	D	0.756492	B	0.06786	0.001	B	0.11329	0.006	T	0.46952	-0.9154	10	0.25106	T	0.35	.	4.2964	0.10904	0.1758:0.0971:0.0:0.7271	.	889	Q7Z553	MDGA2_HUMAN	A	889;660;958;91;660	ENSP00000400011:T889A;ENSP00000405456:T660A;ENSP00000382178:T958A;ENSP00000382168:T91A;ENSP00000349925:T660A	ENSP00000349925:T660A	T	-	1	0	MDGA2	46393988	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.155000	0.42301	0.757000	0.33036	0.455000	0.32223	ACT		PASS	0.323	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		21	87	21	87	---	---	---	---
CDKL1	8814	broad.mit.edu	37	14	50856878	50856878	+	5'UTR	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:50856878T>C	ENST00000356146.1	-	0	938				CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TTCCTTCTCTTTGTCTCACTT	0.418																																						uc010anu.1																			0				ovary(1)|stomach(1)	2						c.(937-939)CAA>CAG		cyclin-dependent kinase-like 1							215.0	191.0	198.0					14																	50856878		876	1991	2867	SO:0001623	5_prime_UTR_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50856878T>C	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-2044A>G	14.37:g.50856878T>C						CDKL1_uc001wxz.2_Intron	p.Q313Q	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			7	939	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		Error:Variant_position_missing_in_Q00532_after_alignment					Q2M3A4|Q6QUA0|Q8WXQ5	Silent	SNP	ENST00000356146.1	37	c.939A>G																																																																																					PASS	0.418	CDKL1-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000276873.2			54	127	54	127	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53619407	53619407	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:53619407C>G	ENST00000323669.5	-	1	409	c.410G>C	c.(409-411)gGa>gCa	p.G137A	RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000357758.3_Missense_Mutation_p.G137A|DDHD1_ENST00000395606.1_Missense_Mutation_p.G137A|AL356020.1_ENST00000584587.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	137					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.G137A(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GGGGGACCCTCCTGTCGCGCC	0.746																																						uc001xai.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(409-411)GGA>GCA		DDHD domain containing 1 isoform c							13.0	14.0	14.0					14																	53619407		2190	4273	6463	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53619407C>G	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.410G>C	14.37:g.53619407C>G	ENSP00000327104:p.Gly137Ala					DDHD1_uc001xaj.2_Missense_Mutation_p.G137A|DDHD1_uc001xah.2_Missense_Mutation_p.G137A	p.G137A	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			1	640	-	Breast(41;0.037)		137					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.410G>C	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	8.565	0.878786	0.17395	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758	.	.	.	3.56	2.61	0.31194	.	0.787091	0.10751	U	0.638334	T	0.15565	0.0375	N	0.22421	0.69	0.09310	N	1	P;P;B	0.42785	0.79;0.612;0.0	B;B;B	0.42030	0.373;0.149;0.001	T	0.12682	-1.0538	9	0.06236	T	0.91	-4.9652	2.0843	0.03642	0.1664:0.4381:0.2725:0.1229	.	137;137;137	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	A	137	.	ENSP00000327104:G137A	G	-	2	0	DDHD1	52689157	0.684000	0.27642	0.994000	0.49952	0.288000	0.27193	0.990000	0.29642	1.806000	0.52798	0.462000	0.41574	GGA		PASS	0.746	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			4	24	4	24	---	---	---	---
DLGAP5	9787	broad.mit.edu	37	14	55655860	55655860	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:55655860T>A	ENST00000247191.2	-	2	254	c.38A>T	c.(37-39)gAt>gTt	p.D13V	DLGAP5_ENST00000395425.2_Missense_Mutation_p.D13V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	13					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.D13V(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGTACTTATATCCTTCCTGTG	0.323																																						uc001xbs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(37-39)GAT>GTT		discs large homolog 7 isoform a							110.0	102.0	105.0					14																	55655860		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55655860T>A	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.38A>T	14.37:g.55655860T>A	ENSP00000247191:p.Asp13Val					DLGAP5_uc001xbt.2_Missense_Mutation_p.D13V	p.D13V	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			2	255	-			13					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.38A>T	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.780172	0.49891	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645;ENST00000554067	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.71	5.71	0.89125	.	0.142003	0.64402	D	0.000008	T	0.66519	0.2797	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70799	-0.4774	10	0.87932	D	0	.	15.9524	0.79850	0.0:0.0:0.0:1.0	.	13;13	A8MTM6;Q15398	.;DLGP5_HUMAN	V	13	ENSP00000378815:D13V;ENSP00000247191:D13V;ENSP00000451747:D13V;ENSP00000452168:D13V	ENSP00000247191:D13V	D	-	2	0	DLGAP5	54725613	1.000000	0.71417	0.986000	0.45419	0.015000	0.08874	5.030000	0.64128	2.302000	0.77476	0.533000	0.62120	GAT		PASS	0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		13	63	13	63	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65262276	65262276	+	Nonsense_Mutation	SNP	C	C	A	rs200071450		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:65262276C>A	ENST00000389721.5	-	11	1455	c.1423G>T	c.(1423-1425)Gag>Tag	p.E475*	SPTB_ENST00000389720.3_Nonsense_Mutation_p.E475*|SPTB_ENST00000542895.1_Nonsense_Mutation_p.E475*|SPTB_ENST00000389722.3_Nonsense_Mutation_p.E475*|SPTB_ENST00000556626.1_Nonsense_Mutation_p.E475*	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	475					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.E475*(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCCGCTCCTCGTAGGCAGCC	0.592																																						uc001xht.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(1423-1425)GAG>TAG		spectrin beta isoform b							82.0	76.0	78.0					14																	65262276		2203	4300	6503	SO:0001587	stop_gained	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65262276C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1423G>T	14.37:g.65262276C>A	ENSP00000374371:p.Glu475*					SPTB_uc001xhr.2_Nonsense_Mutation_p.E475*|SPTB_uc001xhs.2_Nonsense_Mutation_p.E475*|SPTB_uc001xhu.2_Nonsense_Mutation_p.E475*	p.E475*	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	11	1477	-		all_lung(585;4.15e-09)	475			Spectrin 2.		Q15510|Q15519	Nonsense_Mutation	SNP	ENST00000389721.5	37	c.1423G>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	38	7.044431	0.98025	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	.	.	.	5.87	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.8165	0.46580	0.0:0.8475:0.0:0.1525	.	.	.	.	X	479;475;475;475;475;475	.	ENSP00000374370:E475X	E	-	1	0	SPTB	64332029	0.955000	0.32602	0.987000	0.45799	0.952000	0.60782	2.157000	0.42320	1.493000	0.48517	0.655000	0.94253	GAG		PASS	0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			16	71	16	71	---	---	---	---
SLC24A4	123041	broad.mit.edu	37	14	92922883	92922883	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:92922883C>G	ENST00000532405.1	+	12	1412	c.1186C>G	c.(1186-1188)Ccg>Gcg	p.P396A	SLC24A4_ENST00000351924.5_Missense_Mutation_p.P360A|SLC24A4_ENST00000298877.1_Missense_Mutation_p.P379A|SLC24A4_ENST00000393265.2_Missense_Mutation_p.P332A|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000531433.1_Missense_Mutation_p.P377A			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	396	Poly-Pro.				amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.P379A(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAGCAGCCGCCGCCACAGCC	0.617											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(10;315 435 10383 28450 38798)	uc001yak.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1135-1137)CCG>GCG		solute carrier family 24 member 4 isoform 1							30.0	36.0	34.0					14																	92922883		2198	4294	6492	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92922883C>G	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1186C>G	14.37:g.92922883C>G	ENSP00000431840:p.Pro396Ala		OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1293	SLC24A4_uc001yai.2_Missense_Mutation_p.P332A|SLC24A4_uc010twm.1_Missense_Mutation_p.P377A|SLC24A4_uc001yaj.2_Missense_Mutation_p.P360A|SLC24A4_uc010auj.2_Missense_Mutation_p.P268A|SLC24A4_uc010twn.1_Missense_Mutation_p.P152A|SLC24A4_uc001yan.2_Missense_Mutation_p.P90A	p.P379A	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	12	1159	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	396			Extracellular (Potential).|Poly-Pro.		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1135C>G	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.043|0.043	-1.278610|-1.278610	0.01410|0.01410	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000525557|ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079	.|T;T;T;T;T	.|0.65732	.|-0.16;0.25;0.25;-0.17;-0.17	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	.|1.628990	.|0.02950	.|N	.|0.141551	T|T	0.47746|0.47746	0.1462|0.1462	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.001;0.0	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.08381	.|T	.|0.77	.|.	14.0905|14.0905	0.64987|0.64987	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|377;332;396	.|Q8NFF2-3;Q8NFF2-2;Q8NFF2	.|.;.;NCKX4_HUMAN	G|A	261|332;377;396;379;360;248	.|ENSP00000376948:P332A;ENSP00000433302:P377A;ENSP00000431840:P396A;ENSP00000298877:P379A;ENSP00000337789:P360A	.|ENSP00000298877:P379A	A|P	+|+	2|1	0|0	SLC24A4|SLC24A4	91992636|91992636	0.005000|0.005000	0.15991|0.15991	0.086000|0.086000	0.20670|0.20670	0.079000|0.079000	0.17450|0.17450	1.540000|1.540000	0.36115|0.36115	2.089000|2.089000	0.63090|0.63090	0.462000|0.462000	0.41574|0.41574	GCC|CCG		PASS	0.617	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		10	31	10	31	---	---	---	---
IFI27	3429	broad.mit.edu	37	14	94582791	94582791	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:94582791T>G	ENST00000555744.1	+	5	475	c.287T>G	c.(286-288)cTc>cGc	p.L96R	IFI27_ENST00000557634.1_Missense_Mutation_p.L86R|IFI27_ENST00000448882.1_Missense_Mutation_p.L99R|IFI27_ENST00000444961.1_Missense_Mutation_p.L99R|IFI27_ENST00000557098.1_Missense_Mutation_p.L51R|IFI27_ENST00000298902.5_Missense_Mutation_p.L96R			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	96					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L96R(1)		breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		GCAACTGGACTCTCCGGATTG	0.597																																					GBM(128;797 1667 20895 29868 47129)	uc010tws.1																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)ACT>ACG		interferon, alpha-inducible protein 27 isoform							106.0	84.0	92.0					14																	94582791		2203	4300	6503	SO:0001583	missense	3429				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		g.chr14:94582791T>G	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.287T>G	14.37:g.94582791T>G	ENSP00000451956:p.Leu96Arg					IFI27_uc001yco.2_Missense_Mutation_p.L99R	p.T118T	NM_005532	NP_005523	P40305	IFI27_HUMAN		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	5	475	+			Error:Variant_position_missing_in_P40305_after_alignment					Q53YA6|Q6IEC1|Q96BK3	Silent	SNP	ENST00000555744.1	37	c.354T>G	CCDS32148.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.683805	0.29872	.	.	ENSG00000165949	ENST00000444961;ENST00000448882;ENST00000557098;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	3.53	3.53	0.40419	.	0.081357	0.50627	D	0.000115	T	0.70753	0.3260	M	0.91818	3.245	0.26081	N	0.981088	D	0.89917	1.0	D	0.91635	0.999	T	0.63260	-0.6677	10	0.62326	D	0.03	.	8.7509	0.34616	0.0:0.0:0.0:1.0	.	96	P40305	IFI27_HUMAN	R	99;99;51;96;86;96	ENSP00000413536:L99R;ENSP00000410901:L99R;ENSP00000450753:L51R;ENSP00000298902:L96R;ENSP00000452560:L86R;ENSP00000451956:L96R	ENSP00000298902:L96R	L	+	2	0	IFI27	93652544	0.615000	0.27026	0.129000	0.21949	0.006000	0.05464	2.821000	0.48065	1.833000	0.53350	0.379000	0.24179	CTC		PASS	0.597	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532		9	24	9	24	---	---	---	---
GLRX5	51218	broad.mit.edu	37	14	96010432	96010432	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:96010432A>T	ENST00000331334.4	+	2	941	c.444A>T	c.(442-444)ttA>ttT	p.L148F	GLRX5_ENST00000553672.1_3'UTR	NM_016417.2	NP_057501.2	Q86SX6	GLRX5_HUMAN	glutaredoxin 5	148					cell redox homeostasis (GO:0045454)|hemopoiesis (GO:0030097)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|protein disulfide oxidoreductase activity (GO:0015035)	p.L148F(1)		large_intestine(1)|lung(1)	2		all_cancers(154;0.135)		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)		CCGCCCTTTTAGATGAAAAGA	0.522																																						uc001yem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)TTA>TTT		glutaredoxin 5							41.0	43.0	42.0					14																	96010432		2203	4300	6503	SO:0001583	missense	51218				cell redox homeostasis|hemopoiesis	mitochondrion	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|protein disulfide oxidoreductase activity	g.chr14:96010432A>T	AF113691	CCDS9936.1	14q32.2	2007-08-16	2007-08-16	2005-11-11		ENSG00000182512			20134	protein-coding gene	gene with protein product		609588	"""chromosome 14 open reading frame 87"", ""glutaredoxin 5 homolog (S. cerevisiae)"""	C14orf87			Standard	NM_016417		Approved	PR01238, GRX5	uc001yem.1	Q86SX6		ENST00000331334.4:c.444A>T	14.37:g.96010432A>T	ENSP00000328570:p.Leu148Phe						p.L148F	NM_016417	NP_057501	Q86SX6	GLRX5_HUMAN		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)	2	548	+		all_cancers(154;0.135)	148					Q0X088|Q3YML0|Q86WY3|Q8IZ54	Missense_Mutation	SNP	ENST00000331334.4	37	c.444A>T	CCDS9936.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.428799	0.62844	.	.	ENSG00000182512	ENST00000331334	T	0.35605	1.3	5.02	-4.62	0.03370	.	0.153542	0.42053	D	0.000761	T	0.40196	0.1107	M	0.79926	2.475	0.38407	D	0.945818	D	0.57571	0.98	P	0.52481	0.7	T	0.44065	-0.9352	10	0.62326	D	0.03	0.1537	3.3536	0.07162	0.3686:0.1184:0.3974:0.1156	.	148	Q86SX6	GLRX5_HUMAN	F	148	ENSP00000328570:L148F	ENSP00000328570:L148F	L	+	3	2	GLRX5	95080185	0.963000	0.33076	0.005000	0.12908	0.962000	0.63368	0.337000	0.19841	-1.267000	0.02443	0.402000	0.26972	TTA		PASS	0.522	GLRX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414550.1			28	35	28	35	---	---	---	---
IGHV4-39	28394	broad.mit.edu	37	14	106877769	106877769	+	RNA	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr14:106877769C>T	ENST00000390619.2	-	0	274									immunoglobulin heavy variable 4-39																		TACTCCCAATCCACTCCAGCC	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							130.0	92.0	104.0					14																	106877769		1914	4106	6020			8755							g.chr14:106877769C>T	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877769C>T						uc010tyu.1_Nonsense_Mutation_p.W61*								277		-									RNA	SNP	ENST00000390619.2	37	c.11330G>A																																																																																					PASS	0.557	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		22	139	22	139	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382682	22382682	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:22382682T>A	ENST00000328795.4	+	1	301	c.210T>A	c.(208-210)gaT>gaA	p.D70E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D70E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTTCCTGGATGCATCCTACT	0.478																																						uc001yuc.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(208-210)GAT>GAA		olfactory receptor, family 4, subfamily N,							156.0	151.0	152.0					15																	22382682		2203	4297	6500	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382682T>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.210T>A	15.37:g.22382682T>A	ENSP00000332500:p.Asp70Glu					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.D70E	p.D70E	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1191	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	70			Helical; Name=2; (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.210T>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.969032	0.34754	.	.	ENSG00000183706	ENST00000328795	T	0.01152	5.26	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000133	T	0.03178	0.0093	L	0.54323	1.7	0.27299	N	0.95763	D	0.64830	0.994	P	0.58721	0.844	T	0.28744	-1.0034	10	0.45353	T	0.12	-4.2011	9.793	0.40717	0.0:0.0:0.0:1.0	.	70	Q8N0Y3	OR4N4_HUMAN	E	70	ENSP00000332500:D70E	ENSP00000332500:D70E	D	+	3	2	OR4N4	19884046	0.000000	0.05858	1.000000	0.80357	0.336000	0.28762	-1.137000	0.03219	1.465000	0.48006	0.164000	0.16699	GAT		PASS	0.478	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			73	280	73	280	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27572176	27572176	+	Splice_Site	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:27572176G>T	ENST00000333743.6	+	4	745	c.491G>T	c.(490-492)aGg>aTg	p.R164M	GABRG3_ENST00000555083.1_Splice_Site_p.R164M	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	164					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R164M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TACACTTTGAGGTAAGATGCT	0.423																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)AGG>ATG		gamma-aminobutyric acid (GABA) A receptor, gamma							35.0	34.0	34.0					15																	27572176		1920	4157	6077	SO:0001630	splice_region_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27572176G>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.491+1G>T	15.37:g.27572176G>T						GABRG3_uc001zbf.2_Missense_Mutation_p.R164M	p.R164M	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	4	657	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	164			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.491G>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400227	0.62177	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	D;D;D	0.82081	-1.57;-1.57;-1.57	5.69	5.69	0.88448	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.94854	0.8016	10	0.87932	D	0	.	18.8001	0.92013	0.0:0.0:1.0:0.0	.	164;164	Q99928;G3V594	GBRG3_HUMAN;.	M	164;164;106	ENSP00000331912:R164M;ENSP00000452244:R164M;ENSP00000451862:R106M	ENSP00000331912:R164M	R	+	2	0	GABRG3	25154922	1.000000	0.71417	0.978000	0.43139	0.066000	0.16364	9.539000	0.98076	2.664000	0.90586	0.655000	0.94253	AGG		PASS	0.423	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2		Missense_Mutation	6	13	6	13	---	---	---	---
GOLGA8G	283768	broad.mit.edu	37	15	28769090	28769090	+	Splice_Site	SNP	A	A	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:28769090A>C	ENST00000525590.2	-	15	1467	c.1406T>G	c.(1405-1407)aTg>aGg	p.M469R	RN7SL829P_ENST00000489494.2_RNA|GOLGA8G_ENST00000329523.6_Intron|AC138749.1_ENST00000458870.1_RNA			Q08AF8	GOG8F_HUMAN	golgin A8 family, member G	251						Golgi apparatus (GO:0005794)		p.M255R(1)		lung(1)	1		all_lung(180;1.98e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;4.69e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0201)|GBM - Glioblastoma multiforme(186;0.0503)|Lung(196;0.171)		CAGGCTTACCATGGCCTCCCT	0.587																																						uc001zbu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)ATG>AGG		golgi autoantigen, golgin subfamily a, 8G							175.0	89.0	125.0					15																	28769090		1957	2720	4677	SO:0001630	splice_region_variant	283768							g.chr15:28769090A>C			15q13.1	2013-01-17	2010-02-12		ENSG00000183629	ENSG00000183629			25328	other	unknown			"""golgi autoantigen, golgin subfamily a, 8G"""			12477932	Standard	NR_033353		Approved	DKFZp434K052		Q08AF8	OTTHUMG00000167134	ENST00000525590.2:c.1407+1T>G	15.37:g.28769090A>C						GOLGA8G_uc001zbt.3_Missense_Mutation_p.M251R|GOLGA8G_uc001zbv.2_Intron	p.M255R	NM_001012420	NP_001012420				all cancers(64;4.69e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0201)|GBM - Glioblastoma multiforme(186;0.0503)|Lung(196;0.171)	14	1753	-		all_lung(180;1.98e-11)|Breast(32;0.000194)|Colorectal(260;0.227)						A4FTY1|Q1A5X9|Q8NDK0	Missense_Mutation	SNP	ENST00000525590.2	37	c.764T>G																																																																																					PASS	0.587	GOLGA8G-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000393332.2	NR_033353.1	Missense_Mutation	36	90	36	90	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33822813	33822813	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:33822813C>A	ENST00000389232.4	+	4	370	c.300C>A	c.(298-300)caC>caA	p.H100Q	RYR3_ENST00000415757.3_Missense_Mutation_p.H100Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	100	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.H100Q(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGGTGGCCACAGGACCCTGT	0.522																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(298-300)CAC>CAA		ryanodine receptor 3							59.0	59.0	59.0					15																	33822813		1968	4153	6121	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33822813C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.300C>A	15.37:g.33822813C>A	ENSP00000373884:p.His100Gln					RYR3_uc010bar.2_Missense_Mutation_p.H100Q	p.H100Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	4	370	+		all_lung(180;7.18e-09)	100			Cytoplasmic (By similarity).|MIR 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.300C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011466	0.75046	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98296	-4.85;-4.85	5.76	5.76	0.90799	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.80746	2.51	0.48632	D	0.999683	D;D	0.69078	0.997;0.997	D;P	0.68483	0.958;0.765	D	0.98122	1.0426	10	0.49607	T	0.09	.	8.9218	0.35617	0.0:0.8426:0.0:0.1574	.	100;100	Q15413-2;Q15413	.;RYR3_HUMAN	Q	100	ENSP00000373884:H100Q;ENSP00000399610:H100Q	ENSP00000354735:H100Q	H	+	3	2	RYR3	31610105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.830000	0.48136	2.713000	0.92767	0.655000	0.94253	CAC		PASS	0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			15	23	15	23	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34049713	34049713	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:34049713A>T	ENST00000389232.4	+	60	8691	c.8621A>T	c.(8620-8622)cAt>cTt	p.H2874L	RYR3_ENST00000415757.3_Missense_Mutation_p.H2874L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2874					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.H2874L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCACCAGTCATTGCCTCTAC	0.483																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8620-8622)CAT>CTT		ryanodine receptor 3							89.0	84.0	85.0					15																	34049713		1945	4149	6094	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34049713A>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8621A>T	15.37:g.34049713A>T	ENSP00000373884:p.His2874Leu					RYR3_uc010bar.2_Missense_Mutation_p.H2874L	p.H2874L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	60	8691	+		all_lung(180;7.18e-09)	2874			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8621A>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	29.4	4.998891	0.93227	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.97505	-0.27;-4.41	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.98150	0.9389	M	0.75615	2.305	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.72625	0.725;0.978	D	0.99201	1.0873	10	0.87932	D	0	.	15.612	0.76733	1.0:0.0:0.0:0.0	.	2874;2874	Q15413-2;Q15413	.;RYR3_HUMAN	L	2874	ENSP00000373884:H2874L;ENSP00000399610:H2874L	ENSP00000354735:H2874L	H	+	2	0	RYR3	31837005	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.057000	0.93889	2.281000	0.76405	0.533000	0.62120	CAT		PASS	0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	4	9	4	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	54007484	54007484	+	Silent	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:54007484A>G	ENST00000396328.1	-	5	659	c.420T>C	c.(418-420)gaT>gaC	p.D140D	WDR72_ENST00000557913.1_Silent_p.D140D|WDR72_ENST00000360509.5_Silent_p.D140D|WDR72_ENST00000559418.1_Silent_p.D140D	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	140								p.D140D(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGTTTTGGCATCAATTATAA	0.403																																						uc002acj.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(418-420)GAT>GAC		WD repeat domain 72							99.0	93.0	95.0					15																	54007484		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:54007484A>G	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.420T>C	15.37:g.54007484A>G						WDR72_uc010bfi.1_Silent_p.D140D	p.D140D	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	5	462	-			140					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.420T>C	CCDS10151.1																																																																																				PASS	0.403	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		24	66	24	66	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55974607	55974607	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:55974607C>T	ENST00000389286.4	-	4	678	c.631G>A	c.(631-633)Gcc>Acc	p.A211T	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin									p.A211T(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CGTCGGTGGGCTACAGTGGCA	0.448																																						uc002adg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(631-633)GCC>ACC		protogenin precursor							101.0	101.0	101.0					15																	55974607		1927	4127	6054	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55974607C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.631G>A	15.37:g.55974607C>T	ENSP00000373937:p.Ala211Thr						p.A211T	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	4	679	-			211			Ig-like 2.			Missense_Mutation	SNP	ENST00000389286.4	37	c.631G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558625	0.27827	.	.	ENSG00000166450	ENST00000389286	T	0.78707	-1.2	5.41	4.49	0.54785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.255835	0.38548	N	0.001658	T	0.72938	0.3523	M	0.68952	2.095	0.80722	D	1	B	0.14805	0.011	B	0.19391	0.025	T	0.70425	-0.4875	10	0.59425	D	0.04	-13.5104	6.418	0.21728	0.1478:0.6958:0.0:0.1564	.	211	Q2VWP7	PRTG_HUMAN	T	211	ENSP00000373937:A211T	ENSP00000373937:A211T	A	-	1	0	PRTG	53761899	0.197000	0.23362	0.415000	0.26534	0.095000	0.18619	0.800000	0.27042	1.272000	0.44329	0.491000	0.48974	GCC		PASS	0.448	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		21	44	21	44	---	---	---	---
PPIB	5479	broad.mit.edu	37	15	64455064	64455064	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:64455064T>A	ENST00000300026.3	-	1	340	c.122A>T	c.(121-123)aAa>aTa	p.K41I	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	41					bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)	p.K41I(1)		kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GACGGTGACTTTGGGCCCCTT	0.672																																					GBM(105;399 1481 32889 33051 36637)	uc002and.2																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)AAA>ATA		peptidylprolyl isomerase B precursor	L-Proline(DB00172)						19.0	22.0	21.0					15																	64455064		2202	4300	6502	SO:0001583	missense	5479				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr15:64455064T>A		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.122A>T	15.37:g.64455064T>A	ENSP00000300026:p.Lys41Ile					PPIB_uc010bgx.1_Missense_Mutation_p.K33I	p.K41I	NM_000942	NP_000933	P23284	PPIB_HUMAN			1	291	-			41					A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	ENST00000300026.3	37	c.122A>T	CCDS10191.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640801	0.87859	.	.	ENSG00000166794	ENST00000300026	T	0.36878	1.23	5.43	5.43	0.79202	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (1);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	M	0.83603	2.65	0.80722	D	1	P	0.35272	0.493	B	0.38712	0.28	T	0.55490	-0.8133	10	0.72032	D	0.01	.	15.1575	0.72755	0.0:0.0:0.0:1.0	.	41	P23284	PPIB_HUMAN	I	41	ENSP00000300026:K41I	ENSP00000300026:K41I	K	-	2	0	PPIB	62242117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.381000	0.66208	2.072000	0.62099	0.459000	0.35465	AAA		PASS	0.672	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1			6	19	6	19	---	---	---	---
RPL4	6124	broad.mit.edu	37	15	66792511	66792511	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:66792511C>T	ENST00000307961.6	-	9	1013	c.921G>A	c.(919-921)aaG>aaA	p.K307K	SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNORD16_ENST00000362803.1_RNA|SNAPC5_ENST00000566658.1_5'Flank|RPL4_ENST00000568588.1_Silent_p.K213K|SNAPC5_ENST00000316634.5_5'Flank|SNAPC5_ENST00000395589.2_5'Flank|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000307979.7_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	307					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K307K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GATGGATCTTCTTGCTATAAA	0.373																																						uc002apv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(919-921)AAG>AAA		ribosomal protein L4							95.0	88.0	90.0					15																	66792511		2201	4299	6500	SO:0001819	synonymous_variant	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66792511C>T	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.921G>A	15.37:g.66792511C>T						SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Silent_p.K213K|RPL4_uc002apw.2_Silent_p.K213K|RPL4_uc002apx.2_Silent_p.K213K	p.K307K	NM_000968	NP_000959	P36578	RL4_HUMAN			9	977	-			307					A8K502|P39029|Q4VBR0|Q969Z9	Silent	SNP	ENST00000307961.6	37	c.921G>A	CCDS10218.1																																																																																				PASS	0.373	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		39	87	39	87	---	---	---	---
C15orf39	56905	broad.mit.edu	37	15	75500622	75500622	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:75500622C>A	ENST00000360639.2	+	2	2553	c.2233C>A	c.(2233-2235)Cca>Aca	p.P745T	C15orf39_ENST00000394987.4_Missense_Mutation_p.P745T|C15orf39_ENST00000567617.1_Missense_Mutation_p.P745T			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	745						cytoplasm (GO:0005737)		p.P745T(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						agctccagctccagctccagt	0.632																																						uc002azp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2233-2235)CCA>ACA		hypothetical protein LOC56905							25.0	24.0	24.0					15																	75500622		2183	4290	6473	SO:0001583	missense	56905							g.chr15:75500622C>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2233C>A	15.37:g.75500622C>A	ENSP00000353854:p.Pro745Thr					C15orf39_uc002azq.3_Missense_Mutation_p.P745T|C15orf39_uc002azr.3_Missense_Mutation_p.P143T	p.P745T	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	2553	+			745					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2233C>A	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617745	0.28801	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.17854	2.25;2.25	4.58	0.22	0.15279	.	.	.	.	.	T	0.07458	0.0188	N	0.14661	0.345	0.09310	N	1	B;B	0.32829	0.16;0.386	B;B	0.28305	0.088;0.088	T	0.36696	-0.9737	9	0.23302	T	0.38	.	4.7443	0.13029	0.0:0.4521:0.3409:0.207	.	307;745	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	T	745;745;143	ENSP00000353854:P745T;ENSP00000378438:P745T	ENSP00000353854:P745T	P	+	1	0	C15orf39	73287675	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	0.268000	0.18571	-0.275000	0.09219	0.609000	0.83330	CCA		PASS	0.632	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		6	10	6	10	---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78764103	78764103	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:78764103G>A	ENST00000258886.8	+	7	869	c.720G>A	c.(718-720)aaG>aaA	p.K240K	IREB2_ENST00000560440.1_Silent_p.K240K	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	240					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.K240K(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GAGTTTTTAAGAATGTGGCAG	0.318																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(718-720)AAG>AAA		iron-responsive element binding protein 2							37.0	40.0	39.0					15																	78764103		2195	4292	6487	SO:0001819	synonymous_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78764103G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.720G>A	15.37:g.78764103G>A						IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Silent_p.K240K	p.K240K	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	7	882	+			240					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	ENST00000258886.8	37	c.720G>A	CCDS10302.1																																																																																				PASS	0.318	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		19	40	19	40	---	---	---	---
EFTUD1	79631	broad.mit.edu	37	15	82431031	82431031	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:82431031C>G	ENST00000268206.7	-	19	3310	c.3142G>C	c.(3142-3144)Gcc>Ccc	p.A1048P	EFTUD1_ENST00000359445.3_Missense_Mutation_p.A997P	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	1048					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.A1048P(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGTGGGCTGGCCAGGCCACTT	0.463																																						uc002bgt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3142-3144)GCC>CCC		elongation factor Tu GTP binding domain							145.0	143.0	143.0					15																	82431031		1936	4130	6066	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82431031C>G	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.3142G>C	15.37:g.82431031C>G	ENSP00000268206:p.Ala1048Pro					EFTUD1_uc002bgs.1_Missense_Mutation_p.A419P|EFTUD1_uc002bgu.1_Missense_Mutation_p.A997P	p.A1048P	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			19	3311	-			1048					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.3142G>C	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102737	0.94245	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.72725	-0.68;-0.68	5.08	5.08	0.68730	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.35838	U	0.002944	D	0.90256	0.6953	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93677	0.6995	10	0.87932	D	0	-3.6105	18.8317	0.92143	0.0:1.0:0.0:0.0	.	997;1048	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	P	1048;997	ENSP00000268206:A1048P;ENSP00000352418:A997P	ENSP00000268206:A1048P	A	-	1	0	EFTUD1	80218086	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.598000	0.82745	2.531000	0.85337	0.585000	0.79938	GCC		PASS	0.463	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		54	116	54	116	---	---	---	---
DET1	55070	broad.mit.edu	37	15	89074069	89074069	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr15:89074069G>A	ENST00000268148.8	-	2	1013	c.868C>T	c.(868-870)Cct>Tct	p.P290S	DET1_ENST00000558413.1_3'UTR|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.P301S|DET1_ENST00000564406.1_Missense_Mutation_p.P301S	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	290						nucleus (GO:0005634)		p.P301S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTGATGAAAGGATCCCTAAAG	0.522																																						uc002bmr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(868-870)CCT>TCT		de-etiolated 1 isoform 2							48.0	48.0	48.0					15																	89074069		1981	4163	6144	SO:0001583	missense	55070					nucleus		g.chr15:89074069G>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.868C>T	15.37:g.89074069G>A	ENSP00000268148:p.Pro290Ser					DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.P301S	p.P290S	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		2	1020	-	Lung NSC(78;0.105)|all_lung(78;0.182)		290					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.868C>T	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710640	0.30322	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	5.24	0.73138	.	0.101830	0.64402	D	0.000002	T	0.40171	0.1106	N	0.16368	0.405	0.46028	D	0.998823	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	T	0.28235	-1.0050	9	0.08179	T	0.78	-25.3906	15.9261	0.79618	0.0:0.0:0.864:0.136	.	290;301	Q7L5Y6;B3KNN6	DET1_HUMAN;.	S	301;290	.	ENSP00000268148:P290S	P	-	1	0	DET1	86875073	1.000000	0.71417	0.969000	0.41365	0.998000	0.95712	6.594000	0.74104	1.584000	0.49913	0.655000	0.94253	CCT		PASS	0.522	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		8	40	8	40	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2158623	2158623	+	Missense_Mutation	SNP	T	T	C	rs147685291	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:2158623T>C	ENST00000262304.4	-	15	6753	c.6545A>G	c.(6544-6546)cAg>cGg	p.Q2182R	PKD1_ENST00000423118.1_Missense_Mutation_p.Q2182R|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2182	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q2182R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTACTCAGTCTGGTAGGTGAC	0.706													t|||	31	0.0061901	0.0234	0.0	5008	,	,		13305	0.0		0.0	False		,,,				2504	0.0					uc002cos.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3	GRCh37	CM074417	PKD1	M	rs147685291	c.(6544-6546)CAG>CGG		polycystin 1 isoform 1 precursor		T	ARG/GLN,ARG/GLN	57,4217		0,57,2080	21.0	16.0	18.0		6545,6545	4.4	1.0	16	dbSNP_134	18	1,8451		0,1,4225	yes	missense,missense	PKD1	NM_000296.3,NM_001009944.2	43,43	0,58,6305	CC,CT,TT		0.0118,1.3336,0.4558	benign,benign	2182/4303,2182/4304	2158623	58,12668	2137	4226	6363	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2158623T>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6545A>G	16.37:g.2158623T>C	ENSP00000262304:p.Gln2182Arg					PKD1_uc002cot.1_Missense_Mutation_p.Q2182R	p.Q2182R	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	6754	-			2182			Extracellular (Potential).|REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.6545A>G	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	t	5.916	0.353123	0.11182	0.013336	1.18E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.69926	-0.44;-0.44	5.49	4.4	0.53042	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.121954	0.56097	D	0.000031	T	0.52041	0.1710	L	0.48877	1.53	0.34702	D	0.726819	P;P	0.52316	0.952;0.868	P;P	0.47251	0.542;0.492	T	0.62497	-0.6842	10	0.12766	T	0.61	.	10.8524	0.46777	0.0:0.0738:0.0:0.9262	.	2182;2182	P98161-3;P98161	.;PKD1_HUMAN	R	2182;2182;1533;461	ENSP00000262304:Q2182R;ENSP00000399501:Q2182R	ENSP00000262304:Q2182R	Q	-	2	0	PKD1	2098624	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.720000	0.54933	2.099000	0.63709	0.445000	0.29226	CAG		PASS	0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	0	4	0	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19027774	19027774	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:19027774A>G	ENST00000304381.5	+	3	444	c.314A>G	c.(313-315)gAc>gGc	p.D105G	TMC7_ENST00000421369.3_5'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.D105G	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	105					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.D105G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCATGCAGGGACATTCAAGAG	0.493																																						uc002dfq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(313-315)GAC>GGC		transmembrane channel-like 7 isoform a							114.0	93.0	100.0					16																	19027774		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19027774A>G	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.314A>G	16.37:g.19027774A>G	ENSP00000304710:p.Asp105Gly					TMC7_uc010vao.1_Missense_Mutation_p.D105G|TMC7_uc002dfp.2_Missense_Mutation_p.D105G|TMC7_uc010vap.1_5'UTR	p.D105G	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			3	444	+			105			Extracellular (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.314A>G	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270921	0.40194	.	.	ENSG00000170537	ENST00000304381	T	0.50001	0.76	5.34	3.01	0.34805	.	0.847425	0.10979	N	0.612859	T	0.35335	0.0928	L	0.32530	0.975	0.80722	D	1	P;B;B	0.43826	0.818;0.073;0.167	B;B;B	0.36567	0.228;0.027;0.066	T	0.03354	-1.1045	10	0.52906	T	0.07	.	10.361	0.43994	0.6838:0.3162:0.0:0.0	.	105;105;105	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	G	105	ENSP00000304710:D105G	ENSP00000304710:D105G	D	+	2	0	TMC7	18935275	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.970000	0.40520	0.306000	0.22856	0.368000	0.22195	GAC		PASS	0.493	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		14	36	14	36	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20335293	20335293	+	Missense_Mutation	SNP	G	G	T	rs144565957		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:20335293G>T	ENST00000381362.4	-	3	456	c.380C>A	c.(379-381)gCc>gAc	p.A127D	GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.A127D|GP2_ENST00000381360.5_Intron|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	127					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.A127D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATCCCCAAGGGCAGGGTGGGT	0.602																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(379-381)GCC>GAC		zymogen granule membrane glycoprotein 2 isoform		G	ASP/ALA,,,ASP/ALA	1,4405	2.1+/-5.4	0,1,2202	88.0	70.0	76.0		380,,,380	-5.2	0.0	16	dbSNP_134	76	0,8600		0,0,4300	no	missense,intron,intron,missense	GP2	NM_001007240.1,NM_001007241.1,NM_001007242.1,NM_001502.2	126,,,126	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign,,,benign	127/538,,,127/535	20335293	1,13005	2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335293G>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.380C>A	16.37:g.20335293G>T	ENSP00000370767:p.Ala127Asp					GP2_uc002dgw.2_Missense_Mutation_p.A127D|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	p.A127D	NM_001007240	NP_001007241	P55259	GP2_HUMAN			3	463	-			127					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.380C>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	G	8.128	0.782426	0.16189	2.27E-4	0.0	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.95412	-3.7;-3.7	5.02	-5.23	0.02798	.	.	.	.	.	D	0.85483	0.5707	N	0.12182	0.205	0.09310	N	1	B;B	0.29378	0.002;0.243	B;B	0.30716	0.005;0.119	T	0.76812	-0.2821	9	0.36615	T	0.2	-0.1237	1.1702	0.01823	0.2124:0.3183:0.2559:0.2133	.	127;127	P55259-3;P55259	.;GP2_HUMAN	D	127	ENSP00000304044:A127D;ENSP00000370767:A127D	ENSP00000304044:A127D	A	-	2	0	GP2	20242794	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.696000	0.05104	-1.319000	0.02286	-0.781000	0.03364	GCC		PASS	0.602	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		28	98	28	98	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20442370	20442370	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:20442370A>T	ENST00000331849.4	+	9	1328	c.1181A>T	c.(1180-1182)aAg>aTg	p.K394M		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	394					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.K394M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCCATGGGGAAGGCGTCCCCA	0.552																																						uc002dhe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1180-1182)AAG>ATG		acyl-CoA synthetase medium-chain family member 5							204.0	188.0	193.0					16																	20442370		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442370A>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1181A>T	16.37:g.20442370A>T	ENSP00000327916:p.Lys394Met						p.K394M	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			9	1328	+			394					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1181A>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822708	0.50739	.	.	ENSG00000183549	ENST00000331849	T	0.47177	0.85	4.37	2.06	0.26882	AMP-dependent synthetase/ligase (1);	0.000000	0.56097	D	0.000027	T	0.59500	0.2198	M	0.90082	3.085	0.37814	D	0.928148	B	0.31655	0.334	P	0.45913	0.497	T	0.59516	-0.7440	10	0.59425	D	0.04	-6.7745	2.4751	0.04574	0.6069:0.1553:0.0878:0.1499	.	394	Q6NUN0	ACSM5_HUMAN	M	394	ENSP00000327916:K394M	ENSP00000327916:K394M	K	+	2	0	ACSM5	20349871	0.886000	0.30341	0.986000	0.45419	0.628000	0.37860	0.415000	0.21181	0.163000	0.19507	0.528000	0.53228	AAG		PASS	0.552	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		77	255	77	255	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61854938	61854938	+	Silent	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:61854938A>T	ENST00000577390.1	-	6	1869	c.915T>A	c.(913-915)atT>atA	p.I305I	CDH8_ENST00000577730.1_Silent_p.I305I|CDH8_ENST00000299345.6_Silent_p.I305I|CDH8_ENST00000584337.1_Silent_p.I305I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.I305I(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		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)		CATTTTCACCAATATCCTGAT	0.438																																						uc002eog.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(913-915)ATT>ATA		cadherin 8, type 2 preproprotein							162.0	122.0	136.0					16																	61854938		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.chr16:61854938A>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.915T>A	16.37:g.61854938A>T						CDH8_uc002eoh.2_Silent_p.I74I	p.I305I	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)	6	1167	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	305			Extracellular (Potential).|Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.915T>A	CCDS10802.1																																																																																				PASS	0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		29	69	29	69	---	---	---	---
SMPD3	55512	broad.mit.edu	37	16	68398689	68398689	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:68398689A>G	ENST00000219334.5	-	5	2123	c.1520T>C	c.(1519-1521)gTc>gCc	p.V507A	SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.V507A|SMPD3_ENST00000568373.1_Missense_Mutation_p.V507A	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	507					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.V507A(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ATCTCCACAGACGACGTCAAA	0.597																																						uc002ewa.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1519-1521)GTC>GCC		neutral sphingomyelin phosphodiesterase 3	Phosphatidylserine(DB00144)						51.0	51.0	51.0					16																	68398689		2198	4300	6498	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68398689A>G	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1520T>C	16.37:g.68398689A>G	ENSP00000219334:p.Val507Ala					SMPD3_uc010cfe.2_Missense_Mutation_p.V507A|SMPD3_uc010vlh.1_Missense_Mutation_p.V507A	p.V507A	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	5	1942	-		Ovarian(137;0.0563)	507			Lumenal (Potential).		B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.1520T>C	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873047	0.72180	.	.	ENSG00000103056	ENST00000219334	D	0.82711	-1.64	5.82	5.82	0.92795	Endonuclease/exonuclease/phosphatase (2);	0.445155	0.26362	N	0.024816	T	0.78811	0.4342	L	0.39898	1.24	0.36311	D	0.857639	B;B;B	0.28128	0.081;0.201;0.201	B;B;B	0.30716	0.089;0.119;0.119	T	0.81645	-0.0839	10	0.72032	D	0.01	-6.8412	14.122	0.65195	1.0:0.0:0.0:0.0	.	507;507;507	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	A	507	ENSP00000219334:V507A	ENSP00000219334:V507A	V	-	2	0	SMPD3	66956190	1.000000	0.71417	0.962000	0.40283	0.957000	0.61999	8.958000	0.93099	2.224000	0.72417	0.459000	0.35465	GTC		PASS	0.597	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		26	85	26	85	---	---	---	---
HAS3	3038	broad.mit.edu	37	16	69143722	69143722	+	Missense_Mutation	SNP	G	G	T	rs577714323		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:69143722G>T	ENST00000306560.1	+	2	580	c.424G>T	c.(424-426)Ggc>Tgc	p.G142C	HAS3_ENST00000569188.1_Missense_Mutation_p.G142C|HAS3_ENST00000219322.3_Missense_Mutation_p.G142C	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	142					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.G142C(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGTGCTGGGCGGCACCGAGCA	0.647																																						uc010cfh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(424-426)GGC>TGC		hyaluronan synthase 3 isoform a							67.0	61.0	63.0					16																	69143722		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143722G>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.424G>T	16.37:g.69143722G>T	ENSP00000304440:p.Gly142Cys					HAS3_uc002ewk.2_Missense_Mutation_p.G142C|HAS3_uc010vlk.1_Missense_Mutation_p.G142C|HAS3_uc002ewl.2_Missense_Mutation_p.G142C	p.G142C	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	648	+		Ovarian(137;0.101)	142			Cytoplasmic (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.424G>T	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874975	0.72180	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	T;T	0.42900	0.96;0.96	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70238	-0.4927	10	0.54805	T	0.06	-9.0779	19.1973	0.93695	0.0:0.0:1.0:0.0	.	142;142	O00219;O00219-2	HAS3_HUMAN;.	C	142	ENSP00000219322:G142C;ENSP00000304440:G142C	ENSP00000219322:G142C	G	+	1	0	HAS3	67701223	1.000000	0.71417	0.998000	0.56505	0.432000	0.31715	9.063000	0.93927	2.653000	0.90120	0.561000	0.74099	GGC		PASS	0.647	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		24	69	24	69	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89351302	89351302	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:89351302T>C	ENST00000301030.4	-	9	2108	c.1648A>G	c.(1648-1650)Aat>Gat	p.N550D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.N550D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	550	Ser-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.N550D(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTTTTCCAATTGTCTGTCCGC	0.572																																						uc002fmx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1648-1650)AAT>GAT		ankyrin repeat domain 11							47.0	50.0	49.0					16																	89351302		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89351302T>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1648A>G	16.37:g.89351302T>C	ENSP00000301030:p.Asn550Asp					ANKRD11_uc002fmy.1_Missense_Mutation_p.N550D|ANKRD11_uc002fnc.1_Missense_Mutation_p.N550D|ANKRD11_uc002fnb.1_Missense_Mutation_p.N507D	p.N550D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2109	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	550			Ser-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.1648A>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.786579	0.70337	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.49720	0.77;0.77	5.71	4.55	0.56014	.	0.162902	0.53938	D	0.000044	T	0.52725	0.1752	M	0.69823	2.125	0.80722	D	1	P;D	0.54207	0.763;0.965	B;P	0.47044	0.382;0.535	T	0.59429	-0.7456	10	0.56958	D	0.05	.	12.5321	0.56122	0.0:0.0:0.139:0.861	.	169;550	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	D	550;550;169	ENSP00000301030:N550D;ENSP00000367581:N550D	ENSP00000301030:N550D	N	-	1	0	ANKRD11	87878803	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	3.821000	0.55700	2.179000	0.69175	0.459000	0.35465	AAT		PASS	0.572	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		31	39	31	39	---	---	---	---
SPIRE2	84501	broad.mit.edu	37	16	89920893	89920893	+	Splice_Site	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:89920893A>T	ENST00000378247.3	+	5	769		c.e5-1		SPIRE2_ENST00000393062.2_Splice_Site	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2						actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.?(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCTGGGGCCCAGGCCCGACTG	0.672																																						uc002foz.1																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e5-2		spire homolog 2							36.0	37.0	37.0					16																	89920893		2197	4292	6489	SO:0001630	splice_region_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89920893A>T	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.727-1A>T	16.37:g.89920893A>T						SPIRE2_uc010civ.1_Splice_Site_p.A158_splice|SPIRE2_uc010ciw.1_Splice_Site_p.A243_splice|SPIRE2_uc002fpa.1_Splice_Site_p.A195_splice|SPIRE2_uc010cix.1_Splice_Site_p.A112_splice	p.A243_splice	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	5	779	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)						A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Splice_Site	SNP	ENST00000378247.3	37	c.727_splice	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.698070	0.48307	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7272	0.69354	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPIRE2	88448394	1.000000	0.71417	0.968000	0.41197	0.419000	0.31324	6.864000	0.75494	2.224000	0.72417	0.533000	0.62120	.		PASS	0.672	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	Intron	18	35	18	35	---	---	---	---
SPIRE2	84501	broad.mit.edu	37	16	89920895	89920895	+	Splice_Site	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:89920895G>T	ENST00000378247.3	+	5	770	c.727G>T	c.(727-729)Gcc>Tcc	p.A243S	SPIRE2_ENST00000393062.2_Splice_Site_p.A243S	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	243					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.A243S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGGGGCCCAGGCCCGACTGTG	0.672																																						uc002foz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(727-729)GCC>TCC		spire homolog 2							36.0	38.0	38.0					16																	89920895		2197	4292	6489	SO:0001630	splice_region_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89920895G>T	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.727-1G>T	16.37:g.89920895G>T						SPIRE2_uc010civ.1_Missense_Mutation_p.A158S|SPIRE2_uc010ciw.1_Missense_Mutation_p.A243S|SPIRE2_uc002fpa.1_Missense_Mutation_p.A195S|SPIRE2_uc010cix.1_Missense_Mutation_p.A112S	p.A243S	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	5	779	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	243					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.727G>T	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963492	0.53507	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.56275	0.48;0.47	5.5	3.29	0.37713	.	0.096146	0.64402	D	0.000001	T	0.63212	0.2492	M	0.89095	3.005	0.80722	D	1	P;P;P;P	0.51351	0.944;0.901;0.944;0.944	P;P;P;P	0.48270	0.475;0.475;0.572;0.572	T	0.66999	-0.5781	9	.	.	.	-11.6828	9.8641	0.41131	0.1939:0.0:0.8061:0.0	.	112;243;195;243	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	S	243	ENSP00000367494:A243S;ENSP00000376782:A243S	.	A	+	1	0	SPIRE2	88448396	1.000000	0.71417	0.999000	0.59377	0.518000	0.34316	5.184000	0.65070	0.615000	0.30124	0.655000	0.94253	GCC		PASS	0.672	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	Missense_Mutation	17	36	17	36	---	---	---	---
MC1R	4157	broad.mit.edu	37	16	89985821	89985821	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:89985821G>A	ENST00000555147.1	+	1	1535	c.155G>A	c.(154-156)aGc>aAc	p.S52N	TUBB3_ENST00000554444.1_5'Flank|MC1R_ENST00000555427.1_Missense_Mutation_p.S52N|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000556922.1_Missense_Mutation_p.S52N|RP11-566K11.4_ENST00000554623.1_RNA	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	52					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)	p.S52N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGGCTGGTGAGCTTGGTGGAG	0.642									Melanoma, Familial Clustering of																													uc002fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(154-156)AGC>AAC		tubulin, beta, 4							51.0	60.0	57.0					16																	89985821		2095	4223	6318	SO:0001583	missense	10381		Familial Cancer Database		'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:89985821G>A		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.155G>A	16.37:g.89985821G>A	ENSP00000451605:p.Ser52Asn					MC1R_uc002fpe.3_Missense_Mutation_p.S52N|TUBB3_uc010ciz.1_5'Flank	p.S52N	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	1	563	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	Error:Variant_position_missing_in_Q13509_after_alignment					Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	c.155G>A	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351747	0.82132	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.40225	1.04;1.04;1.04	4.86	4.86	0.63082	.	0.000000	0.45361	U	0.000372	T	0.71600	0.3359	M	0.92026	3.265	0.54753	D	0.999983	D	0.89917	1.0	D	0.72982	0.979	T	0.79524	-0.1768	9	.	.	.	.	16.9746	0.86309	0.0:0.0:1.0:0.0	.	52	Q01726	MSHR_HUMAN	N	52	ENSP00000451760:S52N;ENSP00000451560:S52N;ENSP00000451605:S52N	.	S	+	2	0	MC1R;RP11-566K11.2	88513322	1.000000	0.71417	0.998000	0.56505	0.526000	0.34562	9.358000	0.97109	2.255000	0.74692	0.455000	0.32223	AGC		PASS	0.642	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		34	55	34	55	---	---	---	---
PITPNM3	83394	broad.mit.edu	37	17	6381393	6381393	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr17:6381393C>A	ENST00000262483.8	-	8	889	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W	PITPNM3_ENST00000421306.3_Missense_Mutation_p.G232W	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	268					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.G268W(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGAGGCCCCCCACACAGTCC	0.672																																						uc002gdd.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(802-804)GGG>TGG		PITPNM family member 3 isoform 1							48.0	53.0	52.0					17																	6381393		2203	4299	6502	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6381393C>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.802G>T	17.37:g.6381393C>A	ENSP00000262483:p.Gly268Trp					PITPNM3_uc010cln.2_Missense_Mutation_p.G232W|PITPNM3_uc002gdc.3_5'UTR	p.G268W	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	8	953	-			268					A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.802G>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405044	0.83230	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.20069	2.1;2.1	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.54153	-0.8336	10	0.87932	D	0	.	15.5994	0.76613	0.0:1.0:0.0:0.0	.	232;268	F8WEW5;Q9BZ71	.;PITM3_HUMAN	W	268;232	ENSP00000262483:G268W;ENSP00000407882:G232W	ENSP00000262483:G268W	G	-	1	0	PITPNM3	6322117	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.250000	0.78287	2.551000	0.86045	0.563000	0.77884	GGG		PASS	0.672	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		69	41	69	41	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17699777	17699777	+	Missense_Mutation	SNP	G	G	T	rs527868421		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr17:17699777G>T	ENST00000353383.1	+	3	3984	c.3515G>T	c.(3514-3516)cGt>cTt	p.R1172L	RAI1_ENST00000261641.6_Missense_Mutation_p.R1172L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1172					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.R1172L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCCAACTGCCGTGCCACCAAG	0.642																																						uc002grm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3514-3516)CGT>CTT		retinoic acid induced 1							32.0	38.0	36.0					17																	17699777		2203	4299	6502	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699777G>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3515G>T	17.37:g.17699777G>T	ENSP00000323074:p.Arg1172Leu					RAI1_uc002grn.1_Missense_Mutation_p.R1172L	p.R1172L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	3984	+			1172			Nuclear localization signal (Potential).		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.3515G>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380775	0.61845	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.68479	-0.33;0.28	4.3	3.21	0.36854	.	0.504809	0.17039	N	0.189407	T	0.52451	0.1735	L	0.44542	1.39	0.32803	D	0.500394	B	0.15141	0.012	B	0.16722	0.016	T	0.58451	-0.7634	10	0.52906	T	0.07	.	3.0607	0.06198	0.3829:0.0:0.6171:0.0	.	1172	Q7Z5J4	RAI1_HUMAN	L	1172;1172;1172;1124	ENSP00000323074:R1172L;ENSP00000261641:R1172L	ENSP00000261641:R1172L	R	+	2	0	RAI1	17640502	0.995000	0.38212	0.906000	0.35671	0.980000	0.70556	3.000000	0.49481	1.948000	0.56530	0.491000	0.48974	CGT		PASS	0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		17	51	17	51	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18046882	18046882	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr17:18046882G>A	ENST00000205890.5	+	26	6251	c.5913G>A	c.(5911-5913)ctG>ctA	p.L1971L	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1971	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L1971L(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TTCTGAAGCTGAGGGCAGAGT	0.667																																						uc010vxh.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(5911-5913)CTG>CTA		myosin XV							20.0	26.0	24.0					17																	18046882		1988	4121	6109	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18046882G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5913G>A	17.37:g.18046882G>A							p.L1971L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			25	6251	+	all_neural(463;0.228)		1971			IQ 3.|Neck or regulatory domain.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.5913G>A	CCDS42271.1																																																																																				PASS	0.667	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		7	9	7	9	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27009987	27009987	+	Silent	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr17:27009987A>G	ENST00000314616.6	+	15	2038	c.1755A>G	c.(1753-1755)ctA>ctG	p.L585L	SUPT6H_ENST00000347486.4_Silent_p.L585L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	585	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L585L(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAGCTGTGCTAGAAGGCGCCC	0.577																																						uc002hby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1753-1755)CTA>CTG		suppressor of Ty 6 homolog							37.0	34.0	35.0					17																	27009987		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27009987A>G	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1755A>G	17.37:g.27009987A>G						SUPT6H_uc010crt.2_Silent_p.L585L	p.L585L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			15	1845	+	Lung NSC(42;0.00431)		585					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.1755A>G	CCDS32596.1																																																																																				PASS	0.577	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		10	37	10	37	---	---	---	---
AP2B1	163	broad.mit.edu	37	17	34009759	34009759	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr17:34009759G>A	ENST00000262325.7	+	17	2881	c.2328G>A	c.(2326-2328)ctG>ctA	p.L776L	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.L790L|AP2B1_ENST00000592545.1_Silent_p.L752L|AP2B1_ENST00000589344.1_Silent_p.L790L|AP2B1_ENST00000312678.8_Silent_p.L790L|AP2B1_ENST00000538556.1_Silent_p.L719L|CTC-507E2.1_ENST00000588135.1_RNA	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	776					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)	p.L790L(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATACACCACTGATGCCAAACC	0.473																																						uc002hjr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2326-2328)CTG>CTA		adaptor-related protein complex 2, beta 1							112.0	91.0	98.0					17																	34009759		2203	4300	6503	SO:0001819	synonymous_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34009759G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2328G>A	17.37:g.34009759G>A						AP2B1_uc002hjq.2_Silent_p.L790L|AP2B1_uc010wci.1_Silent_p.L752L|AP2B1_uc002hjs.2_Silent_p.L719L|AP2B1_uc002hjt.2_Silent_p.L790L|AP2B1_uc010ctv.2_Silent_p.L790L|AP2B1_uc010wcj.1_Silent_p.L527L	p.L776L	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	17	2517	+		Ovarian(249;0.17)	776					A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	c.2328G>A	CCDS32622.1																																																																																				PASS	0.473	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			20	51	20	51	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37672056	37672056	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr17:37672056G>A	ENST00000447079.4	+	9	2874	c.2841G>A	c.(2839-2841)ctG>ctA	p.L947L	CDK12_ENST00000430627.2_Silent_p.L947L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	947	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.L947L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCTAGAACTGATCAGGTACA	0.408			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2				Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					1	Substitution - coding silent(1)		lung(1)	ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(2839-2841)CTG>CTA		Cdc2-related kinase, arginine/serine-rich							106.0	100.0	102.0					17																	37672056		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37672056G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2841G>A	17.37:g.37672056G>A		TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Silent_p.L946L|CDK12_uc002hrw.3_Silent_p.L947L	p.L947L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			9	3427	+			947			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.2841G>A	CCDS11337.1																																																																																				PASS	0.408	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		24	84	24	84	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901549	51901549	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr17:51901549A>T	ENST00000268919.4	+	1	1311	c.1155A>T	c.(1153-1155)caA>caT	p.Q385H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	385	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q385H(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCAAATCCAAGTGGTCGGGC	0.478																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(1153-1155)CAA>CAT		kinesin family member 2B							125.0	104.0	111.0					17																	51901549		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901549A>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1155A>T	17.37:g.51901549A>T	ENSP00000268919:p.Gln385His					uc010wna.1_RNA	p.Q385H	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1311	+			385			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1155A>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.507570	0.44558	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.17054	2.3	5.73	3.63	0.41609	Kinesin, motor domain (4);	0.000000	0.42964	D	0.000629	T	0.13798	0.0334	L	0.36672	1.1	0.40665	D	0.982161	B	0.20459	0.045	B	0.27076	0.076	T	0.07214	-1.0784	10	0.51188	T	0.08	.	6.6387	0.22897	0.3324:0.0:0.6676:0.0	.	385	Q8N4N8	KIF2B_HUMAN	H	385;273	ENSP00000268919:Q385H	ENSP00000268919:Q385H	Q	+	3	2	KIF2B	49256548	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	0.223000	0.17719	0.674000	0.31244	0.533000	0.62120	CAA		PASS	0.478	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		25	61	25	61	---	---	---	---
TMEM100	55273	broad.mit.edu	37	17	53798145	53798145	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr17:53798145C>A	ENST00000575734.1	-	4	1095	c.287G>T	c.(286-288)gGa>gTa	p.G96V	TMEM100_ENST00000570586.1_5'Flank|TMEM100_ENST00000424486.2_Missense_Mutation_p.G96V	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	96					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.G96V(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TAAAAAAAGTCCAGATGACAG	0.502																																						uc002iuj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)GGA>GTA		transmembrane protein 100							87.0	89.0	88.0					17																	53798145		2203	4300	6503	SO:0001583	missense	55273					integral to membrane		g.chr17:53798145C>A	AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.287G>T	17.37:g.53798145C>A	ENSP00000465638:p.Gly96Val					TMEM100_uc002iuk.3_Missense_Mutation_p.G96V	p.G96V	NM_018286	NP_060756	Q9NV29	TM100_HUMAN			2	598	-			96			Helical; (Potential).		D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	ENST00000575734.1	37	c.287G>T	CCDS11587.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160619	0.78226	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.79862	0.4519	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81769	-0.0781	9	0.87932	D	0	.	18.4525	0.90709	0.0:1.0:0.0:0.0	.	96	Q9NV29	TM100_HUMAN	V	96	.	ENSP00000299377:G96V	G	-	2	0	TMEM100	51153144	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.724000	0.68500	2.593000	0.87608	0.655000	0.94253	GGA		PASS	0.502	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2	NM_018286		33	105	33	105	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62028792	62028792	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr17:62028792C>A	ENST00000435607.1	-	14	2921	c.2845G>T	c.(2845-2847)Gat>Tat	p.D949Y	SCN4A_ENST00000578147.1_Missense_Mutation_p.D949Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	949					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D949Y(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCTTGCTATCCTCAGGCTCT	0.592																																						uc002jds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2845-2847)GAT>TAT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						41.0	41.0	41.0					17																	62028792		1907	4124	6031	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62028792C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2845G>T	17.37:g.62028792C>A	ENSP00000396320:p.Asp949Tyr						p.D949Y	NM_000334	NP_000325	P35499	SCN4A_HUMAN			14	2922	-			949					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.2845G>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686443	0.68157	.	.	ENSG00000007314	ENST00000435607	D	0.84800	-1.9	5.3	5.3	0.74995	Sodium ion transport-associated (1);	0.743599	0.13119	N	0.412372	D	0.88973	0.6583	L	0.40543	1.245	0.54753	D	0.999986	D	0.60160	0.987	D	0.63703	0.917	D	0.86466	0.1782	10	0.39692	T	0.17	.	17.6983	0.88288	0.0:1.0:0.0:0.0	.	949	P35499	SCN4A_HUMAN	Y	949	ENSP00000396320:D949Y	ENSP00000396320:D949Y	D	-	1	0	SCN4A	59382524	1.000000	0.71417	0.997000	0.53966	0.860000	0.49131	4.760000	0.62235	2.764000	0.94973	0.555000	0.69702	GAT		PASS	0.592	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		15	49	15	49	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	480715	480715	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr18:480715T>A	ENST00000400256.3	-	2	257	c.50A>T	c.(49-51)aAg>aTg	p.K17M		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	17					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.K17M(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ACCAAACCGCTTGTAACCGAA	0.552																																						uc002kkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(49-51)AAG>ATG		collectin sub-family member 12							223.0	139.0	167.0					18																	480715		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:480715T>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.50A>T	18.37:g.480715T>A	ENSP00000383115:p.Lys17Met						p.K17M	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			2	265	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	17			Cytoplasmic (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.50A>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381912	0.61845	.	.	ENSG00000158270	ENST00000400256	D	0.89875	-2.58	5.77	5.77	0.91146	.	0.281375	0.38436	N	0.001698	D	0.90352	0.6981	L	0.29908	0.895	0.51012	D	0.9999	D	0.76494	0.999	D	0.74674	0.984	D	0.91248	0.5027	10	0.72032	D	0.01	-24.3076	12.5347	0.56137	0.0:0.0:0.0:1.0	.	17	Q5KU26	COL12_HUMAN	M	17	ENSP00000383115:K17M	ENSP00000383115:K17M	K	-	2	0	COLEC12	470715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.213000	0.58520	2.207000	0.71202	0.529000	0.55759	AAG		PASS	0.552	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			19	50	19	50	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5428365	5428365	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr18:5428365G>C	ENST00000341928.2	-	9	1352	c.1012C>G	c.(1012-1014)Cta>Gta	p.L338V	EPB41L3_ENST00000540638.2_Missense_Mutation_p.L338V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.L338V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.L338V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.L338V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	338	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.L338V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GAAATCTTTAGAACCTTGGGC	0.458																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1012-1014)CTA>GTA		erythrocyte membrane protein band 4.1-like 3							147.0	146.0	146.0					18																	5428365		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428365G>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1012C>G	18.37:g.5428365G>C	ENSP00000343158:p.Leu338Val					EPB41L3_uc010wzh.1_Missense_Mutation_p.L338V|EPB41L3_uc002kmu.1_Missense_Mutation_p.L338V|EPB41L3_uc010dkq.1_Missense_Mutation_p.L229V|EPB41L3_uc010dks.1_Missense_Mutation_p.L360V	p.L338V	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			9	1098	-			338			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1012C>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794836	0.70452	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.45	2.66	0.31614	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88299	0.6399	L	0.35341	1.055	0.80722	D	1	P;B;D;P;B	0.54047	0.898;0.283;0.964;0.955;0.08	D;B;D;D;B	0.77004	0.949;0.274;0.989;0.98;0.376	D	0.85443	0.1156	10	0.45353	T	0.12	.	10.5374	0.45013	0.2729:0.0:0.7271:0.0	.	338;338;229;338;338	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	V	338;229;338;229;338;338	ENSP00000343158:L338V;ENSP00000441174:L338V;ENSP00000341138:L338V;ENSP00000382981:L338V	ENSP00000343158:L338V	L	-	1	2	EPB41L3	5418365	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	5.733000	0.68571	0.254000	0.21573	-0.136000	0.14681	CTA		PASS	0.458	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		56	109	56	109	---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12691384	12691384	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr18:12691384A>G	ENST00000262127.2	-	7	1132	c.907T>C	c.(907-909)Tca>Cca	p.S303P	CEP76_ENST00000423709.2_Missense_Mutation_p.S228P|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	303					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.S303P(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCAGTCGTGAGTTGTGTGAG	0.333																																						uc002kri.2																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)TCA>CCA		centrosomal protein 76kDa							97.0	98.0	98.0					18																	12691384		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12691384A>G	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.907T>C	18.37:g.12691384A>G	ENSP00000262127:p.Ser303Pro					PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Missense_Mutation_p.S125P|CEP76_uc010wzz.1_Missense_Mutation_p.S228P|CEP76_uc010xaa.1_Missense_Mutation_p.S125P	p.S303P	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN			7	1063	-			303					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.907T>C	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763145	0.49574	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.80304	-1.36;-1.33	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	L	0.48362	1.52	0.54753	D	0.999988	P;P;P	0.41265	0.744;0.467;0.478	B;B;B	0.40825	0.341;0.101;0.101	T	0.72503	-0.4273	10	0.32370	T	0.25	-12.8866	9.0989	0.36656	0.751:0.127:0.0:0.1219	.	228;303;125	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	P	303;228	ENSP00000262127:S303P;ENSP00000403074:S228P	ENSP00000262127:S303P	S	-	1	0	CEP76	12681384	0.993000	0.37304	1.000000	0.80357	0.964000	0.63967	1.553000	0.36255	2.285000	0.76669	0.477000	0.44152	TCA		PASS	0.333	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		16	67	16	67	---	---	---	---
LDLRAD4	753	broad.mit.edu	37	18	13645499	13645499	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr18:13645499A>T	ENST00000359446.5	+	6	1232	c.764A>T	c.(763-765)tAc>tTc	p.Y255F	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.Y237F|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.Y200F|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.Y157F|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.Y178F|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.Y218F|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.Y255F	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	255					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.Y218F(1)|p.Y255F(1)									CCCCCCACATACAGCGAGGTG	0.617																																						uc002ksa.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(763-765)TAC>TTC		hypothetical protein LOC753 isoform alpha 1							52.0	56.0	55.0					18																	13645499		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13645499A>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.764A>T	18.37:g.13645499A>T	ENSP00000352420:p.Tyr255Phe					C18orf1_uc002ksb.2_Missense_Mutation_p.Y237F|C18orf1_uc002kse.2_Missense_Mutation_p.Y218F|C18orf1_uc002ksf.2_Missense_Mutation_p.Y200F|C18orf1_uc002ksg.1_Missense_Mutation_p.Y178F|C18orf1_uc002ksh.1_Missense_Mutation_p.Y197F|C18orf1_uc002ksi.1_Missense_Mutation_p.Y179F	p.Y255F	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	7	1432	+			255			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.764A>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096136	0.76870	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.52754	0.86;0.65	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.85130	0.99;0.994;0.99;0.994;0.997;0.993	T	0.75488	-0.3300	10	0.87932	D	0	-0.0959	14.8252	0.70107	1.0:0.0:0.0:0.0	.	179;197;200;218;237;255	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	F	255;237;218;200;197;179	ENSP00000354753:Y255F;ENSP00000382741:Y237F	ENSP00000352420:Y218F	Y	+	2	0	C18orf1	13635499	1.000000	0.71417	0.988000	0.46212	0.513000	0.34164	8.909000	0.92647	1.920000	0.55613	0.533000	0.62120	TAC		PASS	0.617	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		37	76	37	76	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246930	56246930	+	Missense_Mutation	SNP	C	C	T	rs140973320	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr18:56246930C>T	ENST00000361673.3	-	4	1291	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	360						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D360N(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTTCGTCATCGCTTTCTAAT	0.502											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3	0.000599042	0.0008	0.0014	5008	,	,		22730	0.0		0.0	False		,,,				2504	0.001					uc002lhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(1078-1080)GAT>AAT		heart alpha-kinase		C	ASN/ASP	11,4395	17.9+/-39.9	0,11,2192	108.0	102.0	104.0		1078	2.0	1.0	18	dbSNP_134	104	8,8592	6.4+/-24.3	0,8,4292	yes	missense	ALPK2	NM_052947.3	23	0,19,6484	TT,TC,CC		0.093,0.2497,0.1461	probably-damaging	360/2171	56246930	19,12987	2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246930C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1078G>A	18.37:g.56246930C>T	ENSP00000354991:p.Asp360Asn		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.D360N	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1292	-			360					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1078G>A	CCDS11966.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.9	4.468985	0.84533	0.002497	9.3E-4	ENSG00000198796	ENST00000361673	T	0.71817	-0.6	6.04	2.02	0.26589	.	0.000000	0.34628	N	0.003816	T	0.54935	0.1889	L	0.59436	1.845	0.28723	N	0.902896	P	0.44659	0.84	B	0.31016	0.123	T	0.58002	-0.7713	10	0.87932	D	0	-13.4889	4.9405	0.13963	0.1235:0.625:0.1193:0.1322	.	360	Q86TB3	ALPK2_HUMAN	N	360	ENSP00000354991:D360N	ENSP00000354991:D360N	D	-	1	0	ALPK2	54397910	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.719000	0.38011	0.419000	0.25927	0.561000	0.74099	GAT		PASS	0.502	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		43	43	43	43	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1058927	1058927	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:1058927G>A	ENST00000263094.6	+	39	5619	c.5388G>A	c.(5386-5388)agG>agA	p.R1796R	ABCA7_ENST00000433129.1_Silent_p.R1796R|ABCA7_ENST00000435683.2_Silent_p.R1658R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1796	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.R1796R(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGCTGAGGAACTTGACCA	0.612																																						uc002lqw.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(5386-5388)AGG>AGA		ATP-binding cassette, sub-family A, member 7							70.0	73.0	72.0					19																	1058927		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1058927G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5388G>A	19.37:g.1058927G>A						ABCA7_uc002lqy.2_Silent_p.R249R|ABCA7_uc010dsc.2_RNA	p.R1796R	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	39	5619	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1796			ABC transporter 2.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.5388G>A	CCDS12055.1																																																																																				PASS	0.612	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		30	64	30	64	---	---	---	---
DAPK3	1613	broad.mit.edu	37	19	3959147	3959147	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:3959147G>A	ENST00000545797.2	-	9	1560	c.1317C>T	c.(1315-1317)cgC>cgT	p.R439R	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Silent_p.R439R			O43293	DAPK3_HUMAN	death-associated protein kinase 3	439	Leucine-zipper. {ECO:0000303|PubMed:9488481}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)	p.R439R(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCAGGGCGCGCACGAGGT	0.716																																						uc002lzc.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7						c.(1315-1317)CGC>CGT		death-associated protein kinase 3							10.0	10.0	10.0					19																	3959147		2179	4256	6435	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3959147G>A	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.1317C>T	19.37:g.3959147G>A						DAPK3_uc002lzb.1_Silent_p.R176R|DAPK3_uc002lzd.1_Silent_p.R439R	p.R439R	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1410	-		Hepatocellular(1079;0.137)	439			Interaction with CDC5L (By similarity).		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.1317C>T	CCDS12116.1																																																																																				PASS	0.716	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		6	10	6	10	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5077469	5077469	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:5077469C>T	ENST00000159111.4	+	8	986	c.768C>T	c.(766-768)atC>atT	p.I256I	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Silent_p.I256I|KDM4B_ENST00000381759.4_Silent_p.I256I	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	256	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)	p.I256I(2)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGTACGGGATCCCCTTCAGCC	0.647																																						uc002mbq.3																			2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(766-768)ATC>ATT		jumonji domain containing 2B							96.0	95.0	96.0					19																	5077469		2203	4300	6503	SO:0001819	synonymous_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5077469C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.768C>T	19.37:g.5077469C>T						KDM4B_uc010xil.1_Silent_p.I256I|KDM4B_uc010xim.1_Silent_p.I256I|KDM4B_uc002mbr.3_Silent_p.I14I	p.I256I	NM_015015	NP_055830	O94953	KDM4B_HUMAN			8	994	+			256			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.768C>T	CCDS12138.1																																																																																				PASS	0.647	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		85	135	85	135	---	---	---	---
ZNF557	79230	broad.mit.edu	37	19	7076407	7076407	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:7076407G>C	ENST00000439035.2	+	5	355	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	ZNF557_ENST00000414706.1_Missense_Mutation_p.E46Q|ZNF557_ENST00000252840.6_Missense_Mutation_p.E46Q			Q8N988	ZN557_HUMAN	zinc finger protein 557	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E46Q(1)		endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GGTGACCTTTGAGGATGTGGC	0.577																																						uc002mgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(115-117)GAG>CAG		zinc finger protein 557 isoform b							163.0	152.0	156.0					19																	7076407		2203	4300	6503	SO:0001583	missense	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7076407G>C	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.115G>C	19.37:g.7076407G>C	ENSP00000398965:p.Glu39Gln					ZNF557_uc002mga.2_Missense_Mutation_p.E46Q|ZNF557_uc002mgc.2_Missense_Mutation_p.E46Q	p.E39Q	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN		Lung(535;0.179)	5	600	+			39			KRAB.		Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	37	c.115G>C	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	.	7.796	0.712601	0.15306	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.02197	4.4;4.4;4.4	1.59	-2.59	0.06209	Krueppel-associated box (4);	.	.	.	.	T	0.01287	0.0042	N	0.17594	0.5	0.09310	N	0.999999	P;P	0.36010	0.532;0.476	B;B	0.29716	0.106;0.065	T	0.49341	-0.8950	9	0.26408	T	0.33	.	6.6103	0.22747	0.4194:0.0:0.5806:0.0	.	39;46	Q8N988;Q8N988-2	ZN557_HUMAN;.	Q	46;46;39	ENSP00000252840:E46Q;ENSP00000404065:E46Q;ENSP00000398965:E39Q	ENSP00000252840:E46Q	E	+	1	0	ZNF557	7027407	0.005000	0.15991	0.025000	0.17156	0.094000	0.18550	0.213000	0.17521	-0.594000	0.05836	-0.657000	0.03884	GAG		PASS	0.577	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		42	61	42	61	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8154510	8154510	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:8154510C>A	ENST00000600128.1	-	51	6709	c.6295G>T	c.(6295-6297)Gtc>Ttc	p.V2099F	FBN3_ENST00000601739.1_Missense_Mutation_p.V2099F|FBN3_ENST00000270509.2_Missense_Mutation_p.V2099F			Q75N90	FBN3_HUMAN	fibrillin 3	2099	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V2099F(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTGACACAGACGCCGTTAGTG	0.582																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(6295-6297)GTC>TTC		fibrillin 3 precursor							214.0	183.0	193.0					19																	8154510		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8154510C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6295G>T	19.37:g.8154510C>A	ENSP00000470498:p.Val2099Phe					FBN3_uc002mje.2_5'UTR	p.V2099F	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			50	6316	-			2099			EGF-like 33; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6295G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	6.857	0.527439	0.13066	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92595	-3.07	4.0	-7.99	0.01131	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.602851	0.16305	U	0.220241	D	0.85617	0.5738	L	0.41356	1.27	0.09310	N	1	B	0.22080	0.064	B	0.31290	0.127	T	0.69555	-0.5114	10	0.56958	D	0.05	.	10.083	0.42401	0.0799:0.695:0.1177:0.1074	.	2099	Q75N90	FBN3_HUMAN	F	2099;205	ENSP00000270509:V2099F	ENSP00000270509:V2099F	V	-	1	0	FBN3	8060510	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-1.207000	0.03008	-2.570000	0.00468	-1.779000	0.00650	GTC		PASS	0.582	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		50	134	50	134	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9024995	9024995	+	Silent	SNP	G	G	C	rs375977247		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:9024995G>C	ENST00000397910.4	-	16	37070	c.36867C>G	c.(36865-36867)ccC>ccG	p.P12289P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12291	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P12289P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATCTTTCTCGGGCCTGGGGA	0.542																																						uc002mkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36865-36867)CCC>CCG		mucin 16							56.0	53.0	54.0					19																	9024995		1856	4101	5957	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9024995G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36867C>G	19.37:g.9024995G>C							p.P12289P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			16	37071	-			12291			SEA 2.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.36867C>G	CCDS54212.1																																																																																				PASS	0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	42	13	42	---	---	---	---
ZNF441	126068	broad.mit.edu	37	19	11892417	11892417	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:11892417G>T	ENST00000357901.4	+	4	1880	c.1778G>T	c.(1777-1779)gGg>gTg	p.G593V	ZNF441_ENST00000454339.2_Missense_Mutation_p.G526V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G593V(1)|p.G526V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGATATGTGGGAAAGGCTTT	0.408																																						uc010dyj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1777-1779)GGG>GTG		zinc finger protein 441							67.0	62.0	64.0					19																	11892417		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892417G>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1778G>T	19.37:g.11892417G>T	ENSP00000350576:p.Gly593Val					ZNF441_uc002msn.3_Missense_Mutation_p.G549V	p.G593V	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	1972	+			593			C2H2-type 16.			Missense_Mutation	SNP	ENST00000357901.4	37	c.1778G>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	18.01	3.526827	0.64860	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.07567	3.18;3.18	1.22	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29288	0.0729	H	0.94462	3.54	0.52099	D	0.999948	D	0.89917	1.0	D	0.65874	0.939	T	0.13335	-1.0513	9	0.87932	D	0	.	5.5109	0.16880	0.0:0.2198:0.5557:0.2245	.	593	Q8N8Z8	ZN441_HUMAN	V	549;593;526	ENSP00000350576:G593V;ENSP00000403738:G526V	ENSP00000350576:G593V	G	+	2	0	ZNF441	11753417	0.000000	0.05858	0.000000	0.03702	0.962000	0.63368	-0.275000	0.08525	-0.437000	0.07243	0.305000	0.20034	GGG		PASS	0.408	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		17	41	17	41	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14561819	14561819	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:14561819G>A	ENST00000242783.6	+	6	1033	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	PKN1_ENST00000342216.4_Missense_Mutation_p.E296K	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	290					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.E290K(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGCTGCGAGAAGAGCTCGC	0.692																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(868-870)GAA>AAA		protein kinase N1 isoform 2							7.0	10.0	9.0					19																	14561819		1871	4072	5943	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14561819G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.868G>A	19.37:g.14561819G>A	ENSP00000242783:p.Glu290Lys					PKN1_uc002myq.2_Missense_Mutation_p.E296K	p.E290K	NM_002741	NP_002732	Q16512	PKN1_HUMAN			6	1036	+			290			REM 3.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.868G>A	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583567	0.86748	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.66280	-0.2;-0.2	4.37	4.37	0.52481	.	0.000000	0.64402	U	0.000004	T	0.79393	0.4438	M	0.83953	2.67	0.41958	D	0.990698	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.81994	-0.0677	10	0.48119	T	0.1	-38.4425	14.4132	0.67132	0.0:0.0:1.0:0.0	.	296;290	Q16512-2;Q16512	.;PKN1_HUMAN	K	290;296	ENSP00000242783:E290K;ENSP00000343325:E296K	ENSP00000242783:E290K	E	+	1	0	PKN1	14422819	1.000000	0.71417	0.901000	0.35422	0.880000	0.50808	7.405000	0.80007	1.987000	0.57996	0.561000	0.74099	GAA		PASS	0.692	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		6	8	6	8	---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15572072	15572072	+	Silent	SNP	G	G	T	rs377347063		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:15572072G>T	ENST00000343625.7	-	4	586	c.501C>A	c.(499-501)tcC>tcA	p.S167S		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	167					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.S167S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TGCTGCCCTCGGAGCTAGCAC	0.642																																						uc002nbe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(499-501)TCC>TCA		RAS protein activator like 3							37.0	40.0	39.0					19																	15572072		1922	4124	6046	SO:0001819	synonymous_variant	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15572072G>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.501C>A	19.37:g.15572072G>T							p.S167S	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			4	587	-			167					Q8N2T9|Q9H735	Silent	SNP	ENST00000343625.7	37	c.501C>A	CCDS46006.1																																																																																				PASS	0.642	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		20	26	20	26	---	---	---	---
USHBP1	83878	broad.mit.edu	37	19	17370752	17370752	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:17370752C>A	ENST00000252597.3	-	5	895	c.722G>T	c.(721-723)aGt>aTt	p.S241I	USHBP1_ENST00000431146.2_Missense_Mutation_p.S177I|USHBP1_ENST00000598570.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.S241I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCTAGAACCACTGCCTGAGCC	0.567																																						uc002nfs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)AGT>ATT		Usher syndrome 1C binding protein 1							68.0	62.0	64.0					19																	17370752		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17370752C>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.722G>T	19.37:g.17370752C>A	ENSP00000252597:p.Ser241Ile					USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.S177I|USHBP1_uc010eam.1_Missense_Mutation_p.S169I	p.S241I	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			5	835	-			241						Missense_Mutation	SNP	ENST00000252597.3	37	c.722G>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179908	0.57800	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.26810	1.73;1.71	3.87	3.87	0.44632	.	0.346611	0.24793	N	0.035543	T	0.34745	0.0908	L	0.34521	1.04	0.19575	N	0.999969	D;D;D	0.76494	0.985;0.999;0.997	P;D;D	0.66716	0.798;0.946;0.923	T	0.04825	-1.0924	10	0.36615	T	0.2	-0.2239	11.6284	0.51160	0.0:1.0:0.0:0.0	.	177;241;241	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	I	241;177;241	ENSP00000252597:S241I;ENSP00000407902:S177I	ENSP00000252597:S241I	S	-	2	0	USHBP1	17231752	0.289000	0.24334	0.134000	0.22075	0.968000	0.65278	1.944000	0.40263	2.465000	0.83290	0.591000	0.81541	AGT		PASS	0.567	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		28	75	28	75	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19339269	19339269	+	Missense_Mutation	SNP	G	G	C	rs372731221		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:19339269G>C	ENST00000252575.6	+	8	2939	c.2840G>C	c.(2839-2841)gGg>gCg	p.G947A	NCAN_ENST00000538881.1_Missense_Mutation_p.G398A	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	947					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.G947A(1)|p.G961A(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GTTTCCTCAGGGGAGCCTACG	0.642																																						uc002nlz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2839-2841)GGG>GCG		chondroitin sulfate proteoglycan 3 precursor							102.0	105.0	104.0					19																	19339269		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339269G>C	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2840G>C	19.37:g.19339269G>C	ENSP00000252575:p.Gly947Ala					NCAN_uc010ecc.1_Missense_Mutation_p.G511A	p.G947A	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2939	+			947					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.2840G>C	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479813	0.44044	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85861	-1.89;-2.04	3.75	3.75	0.43078	.	0.000000	0.40554	N	0.001079	T	0.78761	0.4334	L	0.32530	0.975	0.26455	N	0.975533	P;D	0.62365	0.888;0.991	B;P	0.47299	0.352;0.543	T	0.69202	-0.5207	10	0.19590	T	0.45	.	11.3871	0.49791	0.0:0.0:1.0:0.0	.	961;947	Q4LE67;O14594	.;NCAN_HUMAN	A	961;947;398	ENSP00000252575:G947A;ENSP00000442202:G398A	ENSP00000252575:G947A	G	+	2	0	NCAN	19200269	0.932000	0.31603	0.648000	0.29521	0.135000	0.20990	3.307000	0.51888	2.406000	0.81754	0.491000	0.48974	GGG		PASS	0.642	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		77	204	77	204	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22157058	22157058	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:22157058C>T	ENST00000397126.4	-	4	926	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E260K(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.363																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(778-780)GAA>AAA		zinc finger protein 208							34.0	37.0	36.0					19																	22157058		2124	4259	6383	SO:0001583	missense	7757							g.chr19:22157058C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.778G>A	19.37:g.22157058C>T	ENSP00000380315:p.Glu260Lys					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.E260K	NM_007153	NP_009084					4	927	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.778G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.598463	0.00857	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.16597	2.33	2.78	-1.38	0.09027	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05686	0.0149	.	.	.	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.39251	-0.9623	8	0.07030	T	0.85	.	3.2005	0.06647	0.2747:0.3078:0.0:0.4175	.	260	O43345	ZN208_HUMAN	K	260	ENSP00000380315:E260K	ENSP00000380315:E260K	E	-	1	0	ZNF208	21948898	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.521000	0.00221	-1.201000	0.02659	-1.206000	0.01644	GAA		PASS	0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		14	41	14	41	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941148	22941148	+	Silent	SNP	G	G	A	rs543969115	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:22941148G>A	ENST00000596209.1	-	4	1653	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	ZNF99_ENST00000397104.3_Silent_p.F430F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F430F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAAGGGCTGAGAAATGCTTAA	0.348													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20428	0.0		0.0	False		,,,				2504	0.001					uc010xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1288-1290)TTC>TTT		zinc finger protein 99							35.0	36.0	36.0					19																	22941148		1995	4184	6179	SO:0001819	synonymous_variant	7652							g.chr19:22941148G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1563C>T	19.37:g.22941148G>A							p.F430F	NM_001080409	NP_001073878					5	1290	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1290C>T	CCDS59369.1																																																																																				PASS	0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		12	48	12	48	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934949	30934949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:30934949C>A	ENST00000355537.3	+	2	627	c.480C>A	c.(478-480)tgC>tgA	p.C160*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	160					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.C160*(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTTCAAGTGCCCGTACTGCG	0.657																																						uc002nsu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(478-480)TGC>TGA		zinc finger protein 536							46.0	41.0	42.0					19																	30934949		2203	4299	6502	SO:0001587	stop_gained	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934949C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.480C>A	19.37:g.30934949C>A	ENSP00000347730:p.Cys160*					ZNF536_uc010edd.1_Nonsense_Mutation_p.C160*	p.C160*	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	618	+	Esophageal squamous(110;0.0834)		160			C2H2-type 2.		A2RU18	Nonsense_Mutation	SNP	ENST00000355537.3	37	c.480C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896547	0.91962	.	.	ENSG00000198597	ENST00000355537	.	.	.	5.67	-0.712	0.11226	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.4625	10.7219	0.46044	0.0:0.4921:0.0:0.5079	.	.	.	.	X	160	.	ENSP00000347730:C160X	C	+	3	2	ZNF536	35626789	0.921000	0.31238	0.999000	0.59377	0.989000	0.77384	0.065000	0.14466	0.080000	0.16959	0.462000	0.41574	TGC		PASS	0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		23	60	23	60	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34890129	34890129	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:34890129C>T	ENST00000356487.5	+	15	1528	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	GPI_ENST00000586425.1_Silent_p.F429F|RP11-618P17.4_ENST00000606020.1_5'Flank|GPI_ENST00000415930.3_Silent_p.F440F	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	429					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.F429F(1)|p.F429L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGGCCAACTTCTTGGCCCAGA	0.587																																						uc002nvg.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)|kidney(1)	2						c.(1285-1287)TTC>TTT		glucose phosphate isomerase							33.0	34.0	34.0					19																	34890129		2203	4300	6503	SO:0001819	synonymous_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34890129C>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1287C>T	19.37:g.34890129C>T						GPI_uc002nvf.2_Silent_p.F468F|GPI_uc010xrv.1_Silent_p.F440F|GPI_uc010xrw.1_Silent_p.F401F|GPI_uc010edl.1_Silent_p.F429F|GPI_uc002nvi.1_Silent_p.F92F	p.F429F	NM_000175	NP_000166	P06744	G6PI_HUMAN			15	1390	+	Esophageal squamous(110;0.162)		429					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.1287C>T	CCDS12437.1																																																																																				PASS	0.587	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			14	53	14	53	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36279138	36279138	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:36279138G>A	ENST00000007510.4	+	21	3815	c.3671G>A	c.(3670-3672)gGt>gAt	p.G1224D	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G1060D|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G1063D|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1224					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.G1063D(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGGGTGCCGGGTCCCTGGGGC	0.692																																						uc002obs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(3187-3189)GGT>GAT		sorting nexin 26							10.0	14.0	12.0					19																	36279138		2093	4116	6209	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36279138G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3671G>A	19.37:g.36279138G>A	ENSP00000007510:p.Gly1224Asp					ARHGAP33_uc002obt.1_Missense_Mutation_p.G1060D|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.G812D	p.G1063D	NM_052948	NP_443180	O14559	RHG33_HUMAN			21	3273	+			1224					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.3188G>A		.	.	.	.	.	.	.	.	.	.	g	5.652	0.304930	0.10678	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.15372	2.94;2.43;2.86	4.41	2.16	0.27623	.	0.458295	0.16249	N	0.222787	T	0.11367	0.0277	N	0.14661	0.345	0.09310	N	1	P;P	0.35656	0.514;0.514	B;B	0.35688	0.208;0.208	T	0.15378	-1.0439	10	0.51188	T	0.08	.	13.396	0.60853	0.0:0.3029:0.6971:0.0	.	1060;1063	O14559-10;O14559-11	.;.	D	1224;1063;1060	ENSP00000007510:G1224D;ENSP00000320038:G1063D;ENSP00000368227:G1060D	ENSP00000007510:G1224D	G	+	2	0	ARHGAP33	40970978	0.005000	0.15991	0.662000	0.29724	0.051000	0.14879	1.131000	0.31406	0.389000	0.25086	-0.714000	0.03626	GGT		PASS	0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		15	28	15	28	---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37211000	37211000	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:37211000C>T	ENST00000536254.2	+	6	1596	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	ZNF567_ENST00000588311.1_Silent_p.F427F|ZNF567_ENST00000360729.4_Silent_p.F427F|ZNF567_ENST00000392163.2_Silent_p.F427F|ZNF567_ENST00000585696.1_Silent_p.F427F|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F427F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAAAGTCCTTCCGCCAGAAGA	0.433																																						uc010xtl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1372-1374)TTC>TTT		zinc finger protein 567							75.0	79.0	78.0					19																	37211000		2203	4300	6503	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211000C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1374C>T	19.37:g.37211000C>T						ZNF567_uc002oeo.1_Silent_p.F458F|ZNF567_uc010xtk.1_Silent_p.F458F|ZNF567_uc002oep.3_Silent_p.F427F|ZNF567_uc002oeq.1_Silent_p.F427F	p.F458F	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1596	+	Esophageal squamous(110;0.198)		458			C2H2-type 9.		B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.1374C>T																																																																																					PASS	0.433	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		47	100	47	100	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40331140	40331140	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:40331140G>C	ENST00000221801.3	-	3	310	c.197C>G	c.(196-198)tCt>tGt	p.S66C	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	66	DMA/Gly-rich.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S66C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GTTGCCACCAGAATGGAAGCC	0.572																																						uc002omn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)TCT>TGT		fibrillarin							180.0	163.0	169.0					19																	40331140		2203	4300	6503	SO:0001583	missense	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331140G>C	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.197C>G	19.37:g.40331140G>C	ENSP00000221801:p.Ser66Cys					FBL_uc002omm.1_5'UTR|FBL_uc002omo.2_Missense_Mutation_p.S65C|FBL_uc010egr.2_Missense_Mutation_p.S66C	p.S66C	NM_001436	NP_001427	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	3	311	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	66			DMA/Gly-rich.		B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	c.197C>G	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858349	0.32791	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.81	3.74	0.42951	.	1.115670	0.06686	N	0.768765	T	0.36524	0.0970	N	0.19112	0.55	0.19300	N	0.99998	B;B;B	0.33583	0.07;0.072;0.418	B;B;B	0.37550	0.077;0.132;0.253	T	0.43940	-0.9360	9	0.62326	D	0.03	0.0272	12.928	0.58270	0.0:0.165:0.835:0.0	.	66;5;66	B4DLD4;Q96BS4;P22087	.;.;FBRL_HUMAN	C	66	.	ENSP00000221801:S66C	S	-	2	0	FBL	45022980	0.998000	0.40836	0.384000	0.26145	0.754000	0.42855	3.636000	0.54317	1.098000	0.41479	0.511000	0.50034	TCT		PASS	0.572	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		72	223	72	223	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40581487	40581487	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:40581487G>A	ENST00000595687.2	-	6	1071	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.R254C|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R289C|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R288C	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R254C(1)|p.R289C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTGCACCACGATTAAAGCCT	0.388																																						uc002omy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(862-864)CGT>TGT		zinc finger protein 780A isoform b							186.0	185.0	186.0					19																	40581487		2203	4298	6501	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581487G>A	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.862C>T	19.37:g.40581487G>A	ENSP00000472189:p.Arg288Cys					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.R288C|ZNF780A_uc010xvh.1_Missense_Mutation_p.R289C	p.R288C	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1087	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		288			C2H2-type 5.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.862C>T	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323956	0.60634	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.22134	1.97;1.97	1.92	1.92	0.25849	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34629	0.0904	L	0.49513	1.565	0.19775	N	0.999952	D;D	0.89917	1.0;1.0	D;D	0.68765	0.943;0.96	T	0.08534	-1.0717	9	0.35671	T	0.21	.	9.4146	0.38514	0.0:0.0:1.0:0.0	.	289;288	E9PB48;O75290	.;Z780A_HUMAN	C	288;289;288	ENSP00000400997:R289C;ENSP00000341507:R288C	ENSP00000341507:R288C	R	-	1	0	ZNF780A	45273327	0.000000	0.05858	0.153000	0.22517	0.776000	0.43924	-0.418000	0.07080	1.040000	0.40099	0.305000	0.20034	CGT		PASS	0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		76	261	76	261	---	---	---	---
BLVRB	645	broad.mit.edu	37	19	40964289	40964289	+	Splice_Site	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:40964289G>A	ENST00000263368.4	-	2	394	c.243C>T	c.(241-243)ctC>ctT	p.L81L	BLVRB_ENST00000595483.1_Splice_Site_p.L81L	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	81					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)	p.L81L(1)		large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	GCTCAGTACTGAGGTCATTGC	0.726																																						uc002onw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)CTC>CTT		biliverdin reductase B (flavin reductase	NADH(DB00157)|Riboflavin(DB00140)						27.0	22.0	24.0					19																	40964289		2189	4289	6478	SO:0001630	splice_region_variant	645				heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity	g.chr19:40964289G>A	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	1063	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 43U, member 1"""	600941	"""Flavin reductase"""	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.244+1C>T	19.37:g.40964289G>A						BLVRB_uc010egw.1_RNA	p.L81L	NM_000713	NP_000704	P30043	BLVRB_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	373	-			81					A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Silent	SNP	ENST00000263368.4	37	c.243C>T	CCDS33029.1																																																																																				PASS	0.726	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462563.1		Silent	3	5	3	5	---	---	---	---
CYP2F1	1572	broad.mit.edu	37	19	41627463	41627463	+	Silent	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:41627463G>T	ENST00000331105.2	+	5	657	c.585G>T	c.(583-585)ctG>ctT	p.L195L		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	195					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.L195L(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ATGAGCGTCTGCTCACCATTA	0.567																																						uc002opu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(583-585)CTG>CTT		cytochrome P450, family 2, subfamily F,							112.0	115.0	114.0					19																	41627463		2183	4299	6482	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41627463G>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.585G>T	19.37:g.41627463G>T						CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Silent_p.L195L|CYP2F1_uc002opv.1_RNA	p.L195L	NM_000774	NP_000765	P24903	CP2F1_HUMAN			5	641	+			195					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.585G>T	CCDS12572.1																																																																																				PASS	0.567	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			48	117	48	117	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46334680	46334680	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:46334680C>A	ENST00000245934.7	-	12	1804	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	520					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.K520N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTGGCCTCCTCTTGGCCTGCG	0.637																																						uc002pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1558-1560)AAG>AAT		symplekin							75.0	56.0	63.0					19																	46334680		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46334680C>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1560G>T	19.37:g.46334680C>A	ENSP00000245934:p.Lys520Asn					SYMPK_uc002pdo.1_Missense_Mutation_p.K520N|SYMPK_uc002pdp.1_Missense_Mutation_p.K520N|SYMPK_uc002pdq.1_Missense_Mutation_p.K520N	p.K520N	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	12	1805	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	520					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1560G>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233415	0.79688	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.51	5.51	0.81932	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	L	0.47716	1.5	0.80722	D	1	D;P	0.67145	0.996;0.915	P;B	0.59487	0.858;0.366	T	0.65224	-0.6220	9	0.41790	T	0.15	.	16.9886	0.86347	0.0:1.0:0.0:0.0	.	535;520	Q4LE61;Q92797	.;SYMPK_HUMAN	N	520	.	ENSP00000245934:K520N	K	-	3	2	SYMPK	51026520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.810000	0.38932	2.614000	0.88457	0.650000	0.86243	AAG		PASS	0.637	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		6	25	6	25	---	---	---	---
SEPW1	6415	broad.mit.edu	37	19	48283985	48283985	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:48283985C>T	ENST00000601048.1	+	2	247	c.33C>T	c.(31-33)ggC>ggT	p.G11G	SEPW1_ENST00000595615.1_Silent_p.G11G|SEPW1_ENST00000601419.1_Intron|SEPW1_ENST00000593892.1_Silent_p.G11G|SEPW1_ENST00000509570.2_Intron	NM_003009.2	NP_003000.1	P63302	SELW_HUMAN	selenoprotein W, 1	11					cell redox homeostasis (GO:0045454)	cytoplasm (GO:0005737)	antioxidant activity (GO:0016209)|selenium binding (GO:0008430)	p.?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		CTACCAGTGGCGCTTGAGGCT	0.627																																						uc010xyw.1																			2	Unknown(2)		lung(2)		0						c.(31-33)GGC>GGT		selenoprotein W, 1							36.0	33.0	34.0					19																	48283985		1879	4104	5983	SO:0001819	synonymous_variant	6415				cell redox homeostasis	cytoplasm	selenium binding	g.chr19:48283985C>T	U67171	CCDS59402.1	19q13.33	2012-05-22			ENSG00000178980	ENSG00000178980			10752	protein-coding gene	gene with protein product		603235				9256076	Standard	NM_003009		Approved	selW	uc021uwp.1	P63302		ENST00000601048.1:c.33C>T	19.37:g.48283985C>T						SEPW1_uc002pho.1_5'Flank	p.G11G	NM_003009	NP_003000	P63302	SELW_HUMAN		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)	2	234	+		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	11					A8MRR7|O15532|O19096|Q86TI9|Q96KM5	Silent	SNP	ENST00000601048.1	37	c.33C>T	CCDS59402.1																																																																																				PASS	0.627	SEPW1-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000464884.1	NM_003009		5	4	5	4	---	---	---	---
NTN5	126147	broad.mit.edu	37	19	49173844	49173844	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:49173844C>A	ENST00000270235.4	-	2	495	c.400G>T	c.(400-402)Gcg>Tcg	p.A134S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	134						extracellular region (GO:0005576)		p.A134S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TGGCTGGCCGCCACAGTGGCC	0.701																																						uc002pkb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(400-402)GCG>TCG		netrin 5 precursor							6.0	7.0	6.0					19																	49173844		2136	4187	6323	SO:0001583	missense	126147					extracellular region		g.chr19:49173844C>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.400G>T	19.37:g.49173844C>A	ENSP00000270235:p.Ala134Ser					SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Missense_Mutation_p.A134S	p.A134S	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN			2	496	-			134					Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	c.400G>T	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	C	7.670	0.686715	0.14973	.	.	ENSG00000142233	ENST00000270235	T	0.26660	1.72	4.06	2.94	0.34122	.	0.538297	0.18275	N	0.146208	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	B;B	0.22146	0.065;0.039	B;B	0.26416	0.069;0.031	T	0.25641	-1.0126	10	0.72032	D	0.01	.	11.6498	0.51282	0.0:0.8182:0.1818:0.0	.	134;134	Q8WTR8-2;Q8WTR8	.;NET5_HUMAN	S	134	ENSP00000270235:A134S	ENSP00000270235:A134S	A	-	1	0	NTN5	53865656	0.118000	0.22208	0.997000	0.53966	0.051000	0.14879	0.599000	0.24089	2.280000	0.76307	0.455000	0.32223	GCG		PASS	0.701	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		5	8	5	8	---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52723448	52723448	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:52723448G>A	ENST00000322088.6	+	11	1367	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.E258K|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E382K|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	437	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.E437K(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GTAGGGAGTGGAGTTCTTTGA	0.527			Mis		clear cell ovarian carcinoma																																	uc002pyp.2				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		1	Substitution - Missense(1)		lung(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1309-1311)GAG>AAG		alpha isoform of regulatory subunit A, protein							170.0	146.0	154.0					19																	52723448		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52723448G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1309G>A	19.37:g.52723448G>A	ENSP00000324804:p.Glu437Lys					PPP2R1A_uc010ydk.1_Missense_Mutation_p.E382K|PPP2R1A_uc002pyq.2_Missense_Mutation_p.E258K	p.E437K	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	11	1468	+			437			HEAT 11.|PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1309G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167164	0.57476	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.31769	1.48;1.48	4.58	3.53	0.40419	Armadillo-like helical (1);Armadillo-type fold (1);	0.085183	0.48286	D	0.000186	T	0.29256	0.0728	L	0.52759	1.655	0.58432	D	0.999996	B;B	0.20164	0.042;0.025	B;B	0.27380	0.079;0.009	T	0.07328	-1.0778	10	0.27785	T	0.31	-29.9412	12.7645	0.57385	0.0:0.1662:0.8338:0.0	.	382;437	F5H3X9;P30153	.;2AAA_HUMAN	K	427;357;437;382	ENSP00000324804:E437K;ENSP00000415067:E382K	ENSP00000324804:E437K	E	+	1	0	PPP2R1A	57415260	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.814000	0.91968	1.276000	0.44395	0.650000	0.86243	GAG		PASS	0.527	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		51	145	51	145	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54312869	54312869	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:54312869C>T	ENST00000324134.6	-	3	2212	c.2044G>A	c.(2044-2046)Gca>Aca	p.A682T	NLRP12_ENST00000351894.4_Missense_Mutation_p.A682T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A682T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A682T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A682T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A682T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A682T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A682T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	682					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A682T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGCGCTCCTGCGGAGCACCTC	0.567																																						uc002qch.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2044-2046)GCA>ACA		NLR family, pyrin domain containing 12 isoform							26.0	25.0	26.0					19																	54312869		2203	4297	6500	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54312869C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2044G>A	19.37:g.54312869C>T	ENSP00000319377:p.Ala682Thr					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A682T|NLRP12_uc002qcj.3_Missense_Mutation_p.A682T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A682T	p.A682T	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	2264	-	Ovarian(34;0.19)		682					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2044G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	0.648	-0.810744	0.02798	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88124	-2.29;-2.34;-2.34;-2.34;-2.34;-2.28;-2.28	2.61	-5.22	0.02806	.	3.189680	0.01622	U	0.023054	T	0.59280	0.2182	N	0.02539	-0.55	0.09310	N	0.999999	P;B;B;B	0.39665	0.682;0.003;0.035;0.018	B;B;B;B	0.20184	0.028;0.0;0.002;0.002	T	0.66952	-0.5793	10	0.13853	T	0.58	.	4.089	0.09960	0.1618:0.5139:0.2043:0.1201	.	682;682;682;682	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	682	ENSP00000319377:A682T;ENSP00000438030:A682T;ENSP00000340473:A682T;ENSP00000346231:A682T;ENSP00000375655:A682T;ENSP00000375653:A682T;ENSP00000375652:A682T	ENSP00000319377:A682T	A	-	1	0	NLRP12	59004681	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.923000	0.00692	-3.080000	0.00251	-0.494000	0.04653	GCA		PASS	0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		20	53	20	53	---	---	---	---
TSEN34	79042	broad.mit.edu	37	19	54696028	54696028	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:54696028C>A	ENST00000396383.1	+	4	860	c.549C>A	c.(547-549)ctC>ctA	p.L183L	MBOAT7_ENST00000474910.1_5'Flank|TSEN34_ENST00000429671.2_Silent_p.L183L|MBOAT7_ENST00000431666.2_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|MBOAT7_ENST00000391754.1_5'Flank|TSEN34_ENST00000396388.2_Silent_p.L183L|MBOAT7_ENST00000245615.1_5'Flank|TSEN34_ENST00000302937.4_Silent_p.L183L|MBOAT7_ENST00000338624.6_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	183					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.L183L(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GATCTGCTCTCCTTGTCCAGC	0.637																																					Esophageal Squamous(37;841 964 4869 42824)	uc002qdu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(547-549)CTC>CTA		tRNA-intron endonuclease 34							68.0	71.0	70.0					19																	54696028		1878	4093	5971	SO:0001819	synonymous_variant	79042				mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr19:54696028C>A	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.549C>A	19.37:g.54696028C>A						MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Silent_p.L183L|TSEN34_uc002qdv.2_Silent_p.L183L|TSEN34_uc002qdw.2_Silent_p.L183L	p.L183L	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN			4	658	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		183					A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Silent	SNP	ENST00000396383.1	37	c.549C>A	CCDS42609.1																																																																																				PASS	0.637	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		54	156	54	156	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54742961	54742961	+	Silent	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:54742961T>C	ENST00000396365.2	-	8	1353	c.1314A>G	c.(1312-1314)tcA>tcG	p.S438S	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000245621.5_Silent_p.S421S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	438					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.S438S(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTTGGCGTGTGAGGCTGGGG	0.597																																						uc002qeu.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1312-1314)TCA>TCG		leukocyte immunoglobulin-like receptor,							108.0	96.0	100.0					19																	54742961		2180	4299	6479	SO:0001819	synonymous_variant	79168					integral to membrane	receptor activity	g.chr19:54742961T>C	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1314A>G	19.37:g.54742961T>C						LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.S282S	p.S438S	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	8	1438	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		438			Extracellular (Potential).			Silent	SNP	ENST00000396365.2	37	c.1314A>G	CCDS42610.1																																																																																				PASS	0.597	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		7	56	7	56	---	---	---	---
LENG9	94059	broad.mit.edu	37	19	54974005	54974005	+	Silent	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:54974005G>A	ENST00000333834.4	-	1	889	c.771C>T	c.(769-771)gcC>gcT	p.A257A		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	257							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.A235A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CAGTCACTCCGGCGAGGCGTC	0.677																																						uc010yez.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(769-771)GCC>GCT		leukocyte receptor cluster (LRC) member 9							45.0	44.0	44.0					19																	54974005		2184	4260	6444	SO:0001819	synonymous_variant	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54974005G>A	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.771C>T	19.37:g.54974005G>A							p.A257A	NM_198988	NP_945339	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	890	-	Ovarian(34;0.19)		257					B2VAM3	Silent	SNP	ENST00000333834.4	37	c.771C>T	CCDS12895.2																																																																																				PASS	0.677	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		37	79	37	79	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55711650	55711650	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:55711650T>G	ENST00000376350.3	-	7	1396	c.1374A>C	c.(1372-1374)gaA>gaC	p.E458D	PTPRH_ENST00000263434.5_Missense_Mutation_p.E280D|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	458	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E458D(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCCATTTTTTTCTGCCCATA	0.522																																						uc002qjq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1372-1374)GAA>GAC		protein tyrosine phosphatase, receptor type, H							152.0	129.0	136.0					19																	55711650		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55711650T>G		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1374A>C	19.37:g.55711650T>G	ENSP00000365528:p.Glu458Asp					PTPRH_uc010esv.2_Missense_Mutation_p.E280D|PTPRH_uc002qjs.2_Missense_Mutation_p.E465D	p.E458D	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	7	1447	-		Renal(1328;0.245)	458			Extracellular (Potential).|Fibronectin type-III 5.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1374A>C	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.802489	0.31869	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.57436	0.4;0.4	3.87	-5.41	0.02648	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.785468	0.10413	N	0.677624	T	0.55481	0.1923	M	0.76002	2.32	0.09310	N	1	P;P;P	0.45212	0.689;0.454;0.853	P;B;P	0.51895	0.683;0.354;0.568	T	0.54262	-0.8320	10	0.52906	T	0.07	.	5.7734	0.18265	0.0:0.5431:0.1379:0.319	.	280;280;458	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	D	458;280	ENSP00000365528:E458D;ENSP00000263434:E280D	ENSP00000263434:E280D	E	-	3	2	PTPRH	60403462	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.948000	0.00679	-1.015000	0.03375	-0.384000	0.06662	GAA		PASS	0.522	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			38	87	38	87	---	---	---	---
FIZ1	84922	broad.mit.edu	37	19	56109044	56109044	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:56109044C>A	ENST00000221665.3	-	2	277	c.188G>T	c.(187-189)aGc>aTc	p.S63I	ZNF524_ENST00000301073.3_5'Flank|FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	63					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)	p.S63I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TAGGTTGAAGCTGTGCTTGAA	0.677																																						uc002qli.3																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)AGC>ATC		FLT3-interacting zinc finger 1							64.0	57.0	60.0					19																	56109044		2203	4300	6503	SO:0001583	missense	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56109044C>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.188G>T	19.37:g.56109044C>A	ENSP00000221665:p.Ser63Ile					FIZ1_uc002qlj.3_Missense_Mutation_p.S63I|ZNF524_uc002qlk.1_5'Flank	p.S63I	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	2	278	-			63			C2H2-type 2.		A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	37	c.188G>T	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.245166	0.39697	.	.	ENSG00000179943	ENST00000221665	T	0.15952	2.38	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16896	0.0406	L	0.45470	1.425	0.80722	D	1	B	0.22346	0.068	B	0.24155	0.051	T	0.05784	-1.0864	9	0.62326	D	0.03	-35.0663	11.1763	0.48601	0.0:0.8112:0.1888:0.0	.	63	Q96SL8	FIZ1_HUMAN	I	63	ENSP00000221665:S63I	ENSP00000221665:S63I	S	-	2	0	FIZ1	60800856	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.016000	0.13377	2.017000	0.59298	0.462000	0.41574	AGC		PASS	0.677	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		43	82	43	82	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640425	57640425	+	Nonsense_Mutation	SNP	G	G	T	rs267605720		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:57640425G>T	ENST00000254181.4	+	4	836	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	USP29_ENST00000598197.1_Nonsense_Mutation_p.E128*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	128					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.E128*(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGCTGAAGGAAATTGACAA	0.363																																						uc002qny.2																			1	Substitution - Nonsense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(382-384)GAA>TAA		ubiquitin specific peptidase 29							66.0	62.0	63.0					19																	57640425		2203	4300	6503	SO:0001587	stop_gained	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640425G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.382G>T	19.37:g.57640425G>T	ENSP00000254181:p.Glu128*						p.E128*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	738	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	128						Nonsense_Mutation	SNP	ENST00000254181.4	37	c.382G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083802	0.94050	.	.	ENSG00000131864	ENST00000254181	.	.	.	2.64	0.437	0.16555	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.376	4.1824	0.10381	0.4264:0.0:0.5736:0.0	.	.	.	.	X	128	.	ENSP00000254181:E128X	E	+	1	0	USP29	62332237	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.049000	0.14099	0.109000	0.17891	0.591000	0.81541	GAA		PASS	0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			22	73	22	73	---	---	---	---
ZNF17	7565	broad.mit.edu	37	19	57932017	57932017	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr19:57932017A>T	ENST00000601808.1	+	3	1370	c.1157A>T	c.(1156-1158)tAt>tTt	p.Y386F	ZNF17_ENST00000307658.7_Missense_Mutation_p.Y388F|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y386F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GAAAAACCTTATGAATGCAAC	0.393																																					Melanoma(149;1637 1853 29914 42869 44988)	uc002qoo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1156-1158)TAT>TTT		zinc finger protein 17							87.0	90.0	89.0					19																	57932017		2185	4295	6480	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932017A>T	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1157A>T	19.37:g.57932017A>T	ENSP00000471905:p.Tyr386Phe					ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.Y388F	p.Y386F	NM_006959	NP_008890	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	1388	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	386			C2H2-type 8.		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.1157A>T	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.367734	0.24771	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.55	0.456	0.16655	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20577	0.0495	N	0.12443	0.215	0.09310	N	1	P;B	0.48407	0.91;0.075	P;B	0.49012	0.598;0.053	T	0.11275	-1.0594	8	0.44086	T	0.13	.	5.2805	0.15673	0.5402:0.0:0.0:0.4598	.	388;386	P17021-2;P17021	.;ZNF17_HUMAN	F	386	.	ENSP00000302455:Y386F	Y	+	2	0	ZNF17	62623829	0.000000	0.05858	0.004000	0.12327	0.371000	0.29859	-0.676000	0.05221	0.063000	0.16370	0.477000	0.44152	TAT		PASS	0.393	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		42	126	42	126	---	---	---	---
SLC4A11	83959	broad.mit.edu	37	20	3215403	3215403	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr20:3215403G>C	ENST00000380056.3	-	2	321	c.274C>G	c.(274-276)Cag>Gag	p.Q92E	SLC4A11_ENST00000380059.3_Missense_Mutation_p.Q119E|SLC4A11_ENST00000539553.2_Missense_Mutation_p.Q76E	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	92					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.Q119E(1)|p.Q92E(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TTGGTGGCCTGCATCTCAAGG	0.577																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(274-276)CAG>GAG		solute carrier family 4 member 11							89.0	74.0	79.0					20																	3215403		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3215403G>C	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.274C>G	20.37:g.3215403G>C	ENSP00000369396:p.Gln92Glu					SLC4A11_uc010zqe.1_Missense_Mutation_p.Q119E|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.Q76E	p.Q92E	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			2	322	-			92			Cytoplasmic (Potential).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.274C>G	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257423	0.22965	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	D;D;D;D	0.82344	-1.58;-1.56;-1.54;-1.6	4.76	3.81	0.43845	.	0.516425	0.14585	N	0.310611	T	0.80374	0.4611	L	0.56769	1.78	0.34938	D	0.750031	B;B;B	0.32620	0.341;0.378;0.231	B;B;B	0.35971	0.215;0.107;0.107	T	0.78280	-0.2265	10	0.16420	T	0.52	.	14.0099	0.64490	0.0:0.1531:0.8469:0.0	.	76;119;92	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	E	119;92;76;76	ENSP00000369399:Q119E;ENSP00000369396:Q92E;ENSP00000441370:Q76E;ENSP00000404271:Q76E	ENSP00000369396:Q92E	Q	-	1	0	SLC4A11	3163403	0.995000	0.38212	0.980000	0.43619	0.007000	0.05969	4.378000	0.59568	1.016000	0.39470	-0.127000	0.14921	CAG		PASS	0.577	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			29	82	29	82	---	---	---	---
CSRP2BP	57325	broad.mit.edu	37	20	18139799	18139799	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr20:18139799C>T	ENST00000435364.3	+	4	913	c.572C>T	c.(571-573)tCa>tTa	p.S191L	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.S191L|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S63L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	191					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.S191L(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TACTTCCGTTCAGGTGCTCAG	0.478																																						uc002wqj.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(571-573)TCA>TTA		CSRP2 binding protein							76.0	73.0	74.0					20																	18139799		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18139799C>T	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.572C>T	20.37:g.18139799C>T	ENSP00000392318:p.Ser191Leu					CSRP2BP_uc002wqk.2_Missense_Mutation_p.S63L|CSRP2BP_uc010zru.1_Missense_Mutation_p.S63L	p.S191L	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			5	1194	+			191					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.572C>T	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335325	0.95758	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.42513	1.96;2.01;1.96;0.97	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.66297	2.02	0.80722	D	1	D;D	0.61080	0.989;0.981	D;D	0.75020	0.985;0.966	T	0.66333	-0.5950	10	0.87932	D	0	-20.6408	20.0149	0.97475	0.0:1.0:0.0:0.0	.	63;191	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	L	191;191;191;63	ENSP00000278816:S191L;ENSP00000366909:S191L;ENSP00000392318:S191L;ENSP00000425909:S63L	ENSP00000278816:S191L	S	+	2	0	CSRP2BP	18087799	1.000000	0.71417	0.399000	0.26333	0.958000	0.62258	7.347000	0.79356	2.793000	0.96121	0.650000	0.86243	TCA		PASS	0.478	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		27	84	27	84	---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42225085	42225085	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr20:42225085G>A	ENST00000373030.3	+	3	260	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	IFT52_ENST00000373039.4_Missense_Mutation_p.E44K	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	44					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)	p.E44K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTTAAAAGATGAAATCACATC	0.323																																						uc002xkw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(130-132)GAA>AAA		intraflagellar transport 52 homolog							67.0	70.0	69.0					20																	42225085		2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42225085G>A	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.130G>A	20.37:g.42225085G>A	ENSP00000362121:p.Glu44Lys					IFT52_uc010zwi.1_RNA|IFT52_uc002xky.2_Missense_Mutation_p.E44K|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.E44K|IFT52_uc002xkz.2_Missense_Mutation_p.E44K	p.E44K	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		3	252	+		Myeloproliferative disorder(115;0.00452)	44					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.130G>A	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016943	0.93404	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.35	5.35	0.76521	ABC-type uncharacterised transport system (1);	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	L	0.56769	1.78	0.80722	D	1	P	0.52692	0.955	P	0.56216	0.794	T	0.65813	-0.6077	9	0.23302	T	0.38	-20.2903	18.2164	0.89887	0.0:0.0:1.0:0.0	.	44	Q9Y366	IFT52_HUMAN	K	44	.	ENSP00000362121:E44K	E	+	1	0	IFT52	41658499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.286000	0.95898	2.667000	0.90743	0.561000	0.74099	GAA		PASS	0.323	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		31	71	31	71	---	---	---	---
PABPC1L	80336	broad.mit.edu	37	20	43545460	43545460	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr20:43545460G>T	ENST00000217073.2	+	3	451	c.451G>T	c.(451-453)Gca>Tca	p.A151S	PABPC1L_ENST00000217074.4_Missense_Mutation_p.A151S|PABPC1L_ENST00000537323.1_Missense_Mutation_p.A151S|PABPC1L_ENST00000255136.3_Missense_Mutation_p.A151S			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	151	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A151S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCATGAGGCCGCACAGCAGGC	0.612																																						uc010ggv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(451-453)GCA>TCA		poly(A)-binding protein, cytoplasmic 1-like							137.0	123.0	127.0					20																	43545460		1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43545460G>T	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.451G>T	20.37:g.43545460G>T	ENSP00000217073:p.Ala151Ser					PABPC1L_uc010zwq.1_RNA	p.A151S	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			3	533	+			151			RRM 2.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.451G>T	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573630	0.86542	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.11	5.11	0.69529	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72465	-0.4285	10	0.87932	D	0	.	18.5463	0.91047	0.0:0.0:1.0:0.0	.	151	Q4VXU2	PAP1L_HUMAN	S	151	ENSP00000217074:A151S;ENSP00000255136:A151S;ENSP00000445661:A151S;ENSP00000217073:A151S	ENSP00000217073:A151S	A	+	1	0	PABPC1L	42978874	1.000000	0.71417	0.977000	0.42913	0.446000	0.32137	9.731000	0.98807	2.375000	0.81037	0.563000	0.77884	GCA		PASS	0.612	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			66	175	66	175	---	---	---	---
KCNS1	3787	broad.mit.edu	37	20	43726500	43726500	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr20:43726500G>A	ENST00000306117.1	-	4	1309	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F	KCNS1_ENST00000537075.1_Missense_Mutation_p.L305F	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	305					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.L305F(1)		endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				ATGAGGTTGAGCGGGTGGCAG	0.637																																						uc002xnc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)CTC>TTC		potassium voltage-gated channel							71.0	56.0	61.0					20																	43726500		2202	4300	6502	SO:0001583	missense	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43726500G>A	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.913C>T	20.37:g.43726500G>A	ENSP00000307694:p.Leu305Phe					KCNS1_uc002xnd.2_Missense_Mutation_p.L305F	p.L305F	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN			4	1310	-		Myeloproliferative disorder(115;0.0122)	305			Cytoplasmic (Potential).		A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	c.913C>T	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.510091	0.64522	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.98221	-4.8;-4.8	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97939	0.9322	L	0.54908	1.71	0.45762	D	0.998654	D	0.56287	0.975	P	0.61722	0.893	D	0.97786	1.0235	10	0.87932	D	0	.	9.3456	0.38107	0.1594:0.0:0.8406:0.0	.	305	Q96KK3	KCNS1_HUMAN	F	305	ENSP00000307694:L305F;ENSP00000445595:L305F	ENSP00000307694:L305F	L	-	1	0	KCNS1	43159914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.893000	0.48633	2.383000	0.81215	0.561000	0.74099	CTC		PASS	0.637	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		10	20	10	20	---	---	---	---
ACOT8	10005	broad.mit.edu	37	20	44483888	44483888	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr20:44483888G>C	ENST00000217455.4	-	2	262	c.172C>G	c.(172-174)Cag>Gag	p.Q58E	ZSWIM3_ENST00000454862.2_5'Flank|ZSWIM3_ENST00000255152.2_5'Flank	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	58					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.Q58E(1)		kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CCCACGATCTGACCACCAAAC	0.577																																						uc002xqa.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(172-174)CAG>GAG		peroxisomal acyl-CoA thioesterase 1 isoform a							107.0	102.0	104.0					20																	44483888		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44483888G>C	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.172C>G	20.37:g.44483888G>C	ENSP00000217455:p.Gln58Glu					ACOT8_uc010zxe.1_Missense_Mutation_p.Q58E|ACOT8_uc002xqc.1_Intron|ACOT8_uc010zxf.1_Intron|ZSWIM3_uc002xqd.2_5'Flank|ZSWIM3_uc010zxg.1_5'Flank	p.Q58E	NM_005469	NP_005460	O14734	ACOT8_HUMAN			2	253	-		Myeloproliferative disorder(115;0.0122)	58					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.172C>G	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.813942|4.813942	0.90790|0.90790	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000217455;ENST00000426915;ENST00000372531|ENST00000457981	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87585|.	0.6214|.	H|H	0.95679|0.95679	3.705|3.705	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.83275|.	0.992;0.996|.	D|.	0.91264|.	0.5039|.	9|.	0.87932|.	D|.	0|.	.|.	18.4349|18.4349	0.90642|0.90642	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	58;58|.	B4DLF4;O14734|.	.;ACOT8_HUMAN|.	E|X	58;56;58|18	.|.	ENSP00000217455:Q58E|.	Q|S	-|-	1|2	0|0	ACOT8|ACOT8	43917295|43917295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	9.030000|9.030000	0.93725|0.93725	2.588000|2.588000	0.87417|0.87417	0.561000|0.561000	0.74099|0.74099	CAG|TCA		PASS	0.577	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		34	117	34	117	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50273590	50273590	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr20:50273590G>C	ENST00000338821.5	-	14	1657	c.1393C>G	c.(1393-1395)Ctc>Gtc	p.L465V	ATP9A_ENST00000311637.5_Missense_Mutation_p.L329V|ATP9A_ENST00000402822.1_Missense_Mutation_p.L344V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	465					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L465V(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGTGGCAGAGCGCGATGGCC	0.622																																						uc002xwg.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1393-1395)CTC>GTC		ATPase, class II, type 9A							109.0	81.0	90.0					20																	50273590		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50273590G>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1393C>G	20.37:g.50273590G>C	ENSP00000342481:p.Leu465Val					ATP9A_uc010gih.1_Missense_Mutation_p.L329V|ATP9A_uc002xwf.1_Intron	p.L465V	NM_006045	NP_006036	O75110	ATP9A_HUMAN			14	1393	-			465			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1393C>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272571	0.80580	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.64260	-0.09;-0.09;-0.09	5.02	5.02	0.67125	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.127419	0.53938	D	0.000043	T	0.75874	0.3909	L	0.57536	1.79	0.80722	D	1	D;P	0.56035	0.974;0.857	D;P	0.67725	0.953;0.536	T	0.75932	-0.3143	10	0.45353	T	0.12	-21.7698	18.3424	0.90309	0.0:0.0:1.0:0.0	.	344;465	O75110-2;O75110	.;ATP9A_HUMAN	V	329;465;344	ENSP00000309086:L329V;ENSP00000342481:L465V;ENSP00000385875:L344V	ENSP00000309086:L329V	L	-	1	0	ATP9A	49706997	1.000000	0.71417	0.959000	0.39883	0.550000	0.35303	7.918000	0.87506	2.319000	0.78375	0.655000	0.94253	CTC		PASS	0.622	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		13	55	13	55	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766527	57766527	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr20:57766527C>A	ENST00000371030.2	+	1	453	c.453C>A	c.(451-453)cgC>cgA	p.R151R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	151							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R151R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTGTGGTCGCGACTGCCTGA	0.657																																						uc002yan.2																			1	Substitution - coding silent(1)		lung(1)	skin(13)|ovary(1)	14						c.(451-453)CGC>CGA		zinc finger protein 831							72.0	77.0	76.0					20																	57766527		2100	4219	6319	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766527C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.453C>A	20.37:g.57766527C>A							p.R151R	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	453	+	all_lung(29;0.0085)		151			C2H2-type 1.		Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.453C>A	CCDS42894.1																																																																																				PASS	0.657	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		53	156	53	156	---	---	---	---
SAMSN1	64092	broad.mit.edu	37	21	15884785	15884785	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr21:15884785T>C	ENST00000400566.1	-	4	470	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.Y198C	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	130					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)	p.Y198C(1)|p.Y130C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTGTCCACTGTAGAGACTATC	0.453																																						uc002yju.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(388-390)TAC>TGC		SAM domain, SH3 domain and nuclear localization							222.0	218.0	219.0					21																	15884785		1941	4137	6078	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15884785T>C	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.389A>G	21.37:g.15884785T>C	ENSP00000383411:p.Tyr130Cys					SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.Y198C	p.Y130C	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	4	471	-			130					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.389A>G	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851783	0.71719	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.47528	0.84;0.84	5.82	5.82	0.92795	.	0.060713	0.64402	D	0.000002	T	0.70272	0.3205	M	0.80982	2.52	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71540	-0.4562	10	0.41790	T	0.15	-5.0294	15.8421	0.78857	0.0:0.0:0.0:1.0	.	198;130	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	C	198;130	ENSP00000285670:Y198C;ENSP00000383411:Y130C	ENSP00000285670:Y198C	Y	-	2	0	SAMSN1	14806656	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	6.949000	0.75971	2.221000	0.72209	0.528000	0.53228	TAC		PASS	0.453	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			82	214	82	214	---	---	---	---
KRTAP13-4	284827	broad.mit.edu	37	21	31802948	31802948	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr21:31802948G>C	ENST00000334068.2	+	1	377	c.355G>C	c.(355-357)Ggc>Cgc	p.G119R		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	119						intermediate filament (GO:0005882)		p.G119R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GAAATATGGAGGCTGTGGTTT	0.522																																					NSCLC(196;2401 3038 18004 35753)	uc011acw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)GGC>CGC		keratin associated protein 13-4							105.0	89.0	94.0					21																	31802948		2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802948G>C	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.355G>C	21.37:g.31802948G>C	ENSP00000334834:p.Gly119Arg						p.G119R	NM_181600	NP_853631	Q3LI77	KR134_HUMAN			1	355	+			119					A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.355G>C	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	13.37	2.218134	0.39201	.	.	ENSG00000186971	ENST00000334068	T	0.03094	4.05	3.97	2.05	0.26809	.	0.855061	0.09671	N	0.771147	T	0.09202	0.0227	L	0.56769	1.78	0.09310	N	1	P	0.51537	0.946	P	0.55455	0.776	T	0.31420	-0.9944	10	0.37606	T	0.19	.	6.0382	0.19720	0.25:0.0:0.75:0.0	.	119	Q3LI77	KR134_HUMAN	R	119	ENSP00000334834:G119R	ENSP00000334834:G119R	G	+	1	0	KRTAP13-4	30724819	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.543000	0.06084	0.582000	0.29556	0.650000	0.86243	GGC		PASS	0.522	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			13	34	13	34	---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42866439	42866439	+	Missense_Mutation	SNP	C	C	A	rs61735791	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr21:42866439C>A	ENST00000332149.5	-	3	216	c.82G>T	c.(82-84)Gca>Tca	p.A28S	TMPRSS2_ENST00000398585.3_Missense_Mutation_p.A65S|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.A28S|TMPRSS2_ENST00000497881.1_Intron	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	28					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A28S(2)|p.A65S(1)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTGGGCTGTGCGGGATAGGGG	0.537			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	uc002yzj.2				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	ERG|ETV1|ETV4|ETV5		prostate 	TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	3	Substitution - Missense(3)		lung(3)	prostate(2523)|central_nervous_system(1)	2524						c.(82-84)GCA>TCA		transmembrane protease, serine 2 isoform 2							126.0	111.0	116.0					21																	42866439		2203	4300	6503	SO:0001583	missense	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42866439C>A	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.82G>T	21.37:g.42866439C>A	ENSP00000330330:p.Ala28Ser					TMPRSS2_uc010gor.2_Missense_Mutation_p.A65S|TMPRSS2_uc010gos.1_Missense_Mutation_p.A28S	p.A28S	NM_005656	NP_005647	O15393	TMPS2_HUMAN			3	216	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	28			Cytoplasmic (Potential).		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.82G>T	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	7.829	0.719532	0.15372	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093;ENST00000455813	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	4.92	-0.184	0.13280	.	1.312500	0.05345	N	0.530743	T	0.16938	0.0407	L	0.47716	1.5	0.09310	N	1	B;B	0.25206	0.12;0.073	B;B	0.24006	0.05;0.022	T	0.31724	-0.9933	10	0.15952	T	0.53	.	5.0021	0.14269	0.2516:0.3033:0.4451:0.0	.	65;28	F8WES1;O15393	.;TMPS2_HUMAN	S	28;65;28;28;28;28	ENSP00000330330:A28S;ENSP00000381588:A65S;ENSP00000391216:A28S;ENSP00000389006:A28S;ENSP00000397846:A28S	ENSP00000330330:A28S	A	-	1	0	TMPRSS2	41788309	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.856000	0.04290	-0.263000	0.09378	-1.216000	0.01612	GCA		PASS	0.537	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			32	80	32	80	---	---	---	---
KRTAP10-6	386674	broad.mit.edu	37	21	46011633	46011633	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr21:46011633C>G	ENST00000400368.1	-	1	753	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	245	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.E245Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GAGGAATCCTCAGAGCAGGTG	0.662																																						uc002zfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)GAG>CAG		keratin associated protein 10-6							138.0	141.0	140.0					21																	46011633		2203	4300	6503	SO:0001583	missense	386674					keratin filament		g.chr21:46011633C>G	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.733G>C	21.37:g.46011633C>G	ENSP00000383219:p.Glu245Gln					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.E245Q	NM_198688	NP_941961	P60371	KR106_HUMAN			1	754	-			245			29 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000400368.1	37	c.733G>C	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.116179	0.00349	.	.	ENSG00000188155	ENST00000400368	T	0.00832	5.64	1.33	0.39	0.16275	.	.	.	.	.	T	0.00724	0.0024	L	0.29908	0.895	0.09310	N	1	B	0.25486	0.127	B	0.22601	0.04	T	0.47005	-0.9150	9	0.13470	T	0.59	.	3.8579	0.08984	0.0:0.7499:0.0:0.2501	.	245	P60371	KR106_HUMAN	Q	245	ENSP00000383219:E245Q	ENSP00000383219:E245Q	E	-	1	0	KRTAP10-6	44836061	0.122000	0.22280	0.006000	0.13384	0.009000	0.06853	1.201000	0.32259	0.132000	0.18615	0.400000	0.26472	GAG		PASS	0.662	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		52	157	52	157	---	---	---	---
YPEL1	29799	broad.mit.edu	37	22	22064998	22064998	+	Silent	SNP	C	C	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr22:22064998C>T	ENST00000339468.3	-	2	419	c.36G>A	c.(34-36)gcG>gcA	p.A12A	YPEL1_ENST00000403503.1_Silent_p.A12A	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	12						nucleus (GO:0005634)		p.A12A(1)		breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					TCGGCAGATACGCTTGGAAAG	0.532																																						uc002zvl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)GCG>GCA		yippee-like 1							375.0	316.0	336.0					22																	22064998		2203	4300	6503	SO:0001819	synonymous_variant	29799					nucleus		g.chr22:22064998C>T	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.36G>A	22.37:g.22064998C>T						YPEL1_uc002zvm.2_RNA	p.A12A	NM_013313	NP_037445	O60688	YPEL1_HUMAN			2	368	-	Colorectal(54;0.105)		12					Q65ZA1|Q6GLI6	Silent	SNP	ENST00000339468.3	37	c.36G>A	CCDS13794.1																																																																																				PASS	0.532	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		55	221	55	221	---	---	---	---
BCR	613	broad.mit.edu	37	22	23524423	23524423	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr22:23524423G>T	ENST00000305877.8	+	1	2027	c.1276G>T	c.(1276-1278)Gca>Tca	p.A426S	BCR_ENST00000359540.3_Missense_Mutation_p.A426S|BCR_ENST00000398512.5_Missense_Mutation_p.A426S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	426	Kinase.	Breakpoint for translocation to form BCR- ABL oncogene.			actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A426S(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCATGGAGACGCAGGTGAGTT	0.637			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	uc002zww.2				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	ABL1| FGFR1|JAK2 		CML|ALL|AML	BCR/JAK2(6)	1	Substitution - Missense(1)	p.A426E(1)	lung(1)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						c.(1276-1278)GCA>TCA		breakpoint cluster region isoform 1							9.0	7.0	8.0					22																	23524423		2148	4219	6367	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23524423G>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1276G>T	22.37:g.23524423G>T	ENSP00000303507:p.Ala426Ser					BCR_uc002zwx.2_Missense_Mutation_p.A426S	p.A426S	NM_004327	NP_004318	P11274	BCR_HUMAN			1	1872	+			426			Kinase.	Breakpoint for translocation to form BCR- ABL oncogene.	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.1276G>T	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396354	0.25205	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000292697;ENST00000420248	T;T;T	0.43294	1.76;1.76;0.95	5.08	-9.75	0.00506	.	0.564987	0.16404	N	0.215910	T	0.20536	0.0494	L	0.29908	0.895	0.30276	N	0.791741	B;B	0.25007	0.055;0.116	B;B	0.23716	0.026;0.048	T	0.07558	-1.0766	10	0.27785	T	0.31	.	8.9708	0.35905	0.3615:0.348:0.2905:0.0	.	426;426	P11274-2;P11274	.;BCR_HUMAN	S	426	ENSP00000303507:A426S;ENSP00000352535:A426S;ENSP00000381524:A426S	ENSP00000292697:A426S	A	+	1	0	BCR	21854423	0.002000	0.14202	0.026000	0.17262	0.264000	0.26372	-0.423000	0.07034	-1.200000	0.02662	0.655000	0.94253	GCA		PASS	0.637	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		11	14	11	14	---	---	---	---
RASD2	23551	broad.mit.edu	37	22	35943073	35943073	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr22:35943073G>T	ENST00000216127.4	+	2	859	c.217G>T	c.(217-219)Gat>Tat	p.D73Y		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	73					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D73Y(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CGACATCCTGGATACCTCTGG	0.627																																						uc003anx.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(217-219)GAT>TAT		RASD family, member 2 precursor							131.0	100.0	110.0					22																	35943073		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35943073G>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.217G>T	22.37:g.35943073G>T	ENSP00000216127:p.Asp73Tyr					RASD2_uc003any.2_Missense_Mutation_p.D73Y	p.D73Y	NM_014310	NP_055125	Q96D21	RHES_HUMAN			2	422	+			73			GTP (By similarity).		O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.217G>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922728	0.92319	.	.	ENSG00000100302	ENST00000216127	D	0.86432	-2.12	5.3	5.3	0.74995	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96639	0.8903	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98400	1.0567	10	0.87932	D	0	.	19.0173	0.92900	0.0:0.0:1.0:0.0	.	73	Q96D21	RHES_HUMAN	Y	73	ENSP00000216127:D73Y	ENSP00000216127:D73Y	D	+	1	0	RASD2	34273019	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.745000	0.98856	2.499000	0.84300	0.558000	0.71614	GAT		PASS	0.627	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		23	87	23	87	---	---	---	---
RBFOX2	23543	broad.mit.edu	37	22	36164352	36164352	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr22:36164352C>A	ENST00000438146.2	-	6	707	c.708G>T	c.(706-708)agG>agT	p.R236S	RBFOX2_ENST00000414461.2_Missense_Mutation_p.R165S|RBFOX2_ENST00000359369.4_Missense_Mutation_p.R145S|RBFOX2_ENST00000262829.7_Missense_Mutation_p.R147S|RBFOX2_ENST00000397303.2_Missense_Mutation_p.R146S|RBFOX2_ENST00000405409.2_Missense_Mutation_p.R166S|RBFOX2_ENST00000449924.2_Missense_Mutation_p.R165S|RBFOX2_ENST00000416721.2_Missense_Mutation_p.R165S	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	175					dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R166S(1)		endometrium(4)|large_intestine(7)|lung(7)	18						TCTCCCTGGCCCTGTCTGCAT	0.428																																						uc003aon.3																			1	Substitution - Missense(1)		lung(1)		0						c.(706-708)AGG>AGT		RNA binding motif protein 9 isoform 5							176.0	159.0	164.0					22																	36164352		2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36164352C>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.708G>T	22.37:g.36164352C>A	ENSP00000413035:p.Arg236Ser					RBM9_uc003aog.3_Missense_Mutation_p.R146S|RBM9_uc003aol.3_Missense_Mutation_p.R165S|RBM9_uc003aoj.3_Missense_Mutation_p.R165S|RBM9_uc003aok.3_Missense_Mutation_p.R166S|RBM9_uc003aoh.3_Missense_Mutation_p.R165S|RBM9_uc003aom.3_Missense_Mutation_p.R147S|RBM9_uc010gwu.2_Missense_Mutation_p.R145S|RBM9_uc003aoo.3_Missense_Mutation_p.R235S	p.R236S	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN			6	820	-			175			RRM.		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.708G>T	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866616	0.51588	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983	T;T;T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.94	5.94	0.96194	.	0.127647	0.64402	D	0.000001	T	0.33760	0.0874	L	0.33753	1.03	0.80722	D	1	P;P;P;D;B;B;B;B;B	0.57899	0.858;0.804;0.787;0.981;0.122;0.093;0.011;0.125;0.026	P;B;B;D;B;B;B;B;B	0.66351	0.528;0.292;0.295;0.943;0.059;0.088;0.026;0.088;0.063	T	0.01570	-1.1322	10	0.87932	D	0	.	20.3544	0.98835	0.0:1.0:0.0:0.0	.	145;235;236;147;165;166;165;165;146	B0QYY4;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;.;.;.;.;.;.;.;.	S	166;175;165;165;147;146;145;165;236;188	ENSP00000384944:R166S;ENSP00000407855:R165S;ENSP00000391670:R165S;ENSP00000262829:R147S;ENSP00000380470:R146S;ENSP00000352328:R145S;ENSP00000405651:R165S;ENSP00000413035:R236S;ENSP00000386177:R188S	ENSP00000262829:R147S	R	-	3	2	RBFOX2	34494298	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.310000	0.43708	2.817000	0.96982	0.655000	0.94253	AGG		PASS	0.428	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			78	198	78	198	---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41753294	41753294	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr22:41753294A>T	ENST00000352645.4	+	23	3052	c.2795A>T	c.(2794-2796)aAg>aTg	p.K932M	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K932M	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	948					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K932M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAGTTGGCCAAGGCTCGCAAG	0.622																																						uc003azw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2794-2796)AAG>ATG		zinc finger CCCH-type containing 7B							99.0	96.0	97.0					22																	41753294		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753294A>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2795A>T	22.37:g.41753294A>T	ENSP00000345793:p.Lys932Met					ZC3H7B_uc010gyl.1_Intron	p.K932M	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			23	3011	+			948			Potential.		A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.2795A>T	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315916	0.81469	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.15718	2.4;2.4	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000003	T	0.36166	0.0957	L	0.49126	1.545	0.49687	D	0.999816	D	0.89917	1.0	D	0.87578	0.998	T	0.11494	-1.0585	10	0.87932	D	0	-28.0511	14.4846	0.67609	1.0:0.0:0.0:0.0	.	932	Q9UGR2-2	.	M	932	ENSP00000345793:K932M;ENSP00000263243:K932M	ENSP00000263243:K932M	K	+	2	0	ZC3H7B	40083240	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.114000	0.77103	2.012000	0.59069	0.260000	0.18958	AAG		PASS	0.622	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		22	97	22	97	---	---	---	---
ARSF	416	broad.mit.edu	37	X	3002640	3002640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chrX:3002640G>T	ENST00000381127.1	+	6	984	c.763G>T	c.(763-765)Gag>Tag	p.E255*	ARSF_ENST00000359361.2_Nonsense_Mutation_p.E255*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.E255*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	255					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.E255*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGAGATCACGGAGCAGCCCAT	0.463																																						uc004cre.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(763-765)GAG>TAG		arylsulfatase F precursor							71.0	61.0	64.0					X																	3002640		2203	4300	6503	SO:0001587	stop_gained	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002640G>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.763G>T	X.37:g.3002640G>T	ENSP00000370519:p.Glu255*					ARSF_uc004crf.1_Nonsense_Mutation_p.E255*	p.E255*	NM_004042	NP_004033	P54793	ARSF_HUMAN			6	984	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	255					Q8TCC5	Nonsense_Mutation	SNP	ENST00000381127.1	37	c.763G>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784359	0.90282	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	.	.	.	3.28	2.35	0.29111	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.3264	0.49450	0.0:0.1827:0.8173:0.0	.	.	.	.	X	255	.	ENSP00000352319:E255X	E	+	1	0	ARSF	3012640	1.000000	0.71417	0.140000	0.22221	0.347000	0.29111	3.675000	0.54605	0.224000	0.20940	0.534000	0.68092	GAG		PASS	0.463	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			15	54	15	54	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17750515	17750515	+	Silent	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chrX:17750515C>A	ENST00000380060.3	+	8	5162	c.4824C>A	c.(4822-4824)atC>atA	p.I1608I	NHS_ENST00000398097.3_Silent_p.I1452I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1629					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.I1452I(1)|p.I1608I(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGCAGGCAATCTCCGAGGGAG	0.607																																						uc004cxx.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(4822-4824)ATC>ATA		Nance-Horan syndrome protein isoform 1							71.0	71.0	71.0					X																	17750515		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17750515C>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4824C>A	X.37:g.17750515C>A						NHS_uc011mix.1_Silent_p.I1629I|NHS_uc004cxy.2_Silent_p.I1452I|NHS_uc004cxz.2_Silent_p.I1431I|NHS_uc004cya.2_Silent_p.I1331I	p.I1608I	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			8	5162	+	Hepatocellular(33;0.183)		1608					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.4824C>A	CCDS14181.1																																																																																				PASS	0.607	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		29	108	29	108	---	---	---	---
MAGEB4	4115	broad.mit.edu	37	X	30261046	30261046	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chrX:30261046C>A	ENST00000378982.2	+	1	990	c.794C>A	c.(793-795)cCc>cAc	p.P265H	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	265	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P265H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AACAGTGATCCCCCACGCTAT	0.502																																						uc004dcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(793-795)CCC>CAC		melanoma antigen family B, 4							69.0	66.0	67.0					X																	30261046		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261046C>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.794C>A	X.37:g.30261046C>A	ENSP00000368266:p.Pro265His					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.P265H	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	878	+			265			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.794C>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326802	0.41197	.	.	ENSG00000120289	ENST00000378982	T	0.06449	3.3	3.22	3.22	0.36961	.	0.000000	0.64402	U	0.000001	T	0.31734	0.0806	H	0.95816	3.725	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.18461	-1.0336	10	0.87932	D	0	.	9.0854	0.36579	0.0:1.0:0.0:0.0	.	265	O15481	MAGB4_HUMAN	H	265	ENSP00000368266:P265H	ENSP00000368266:P265H	P	+	2	0	MAGEB4	30170967	0.146000	0.22672	0.033000	0.17914	0.018000	0.09664	2.443000	0.44881	1.880000	0.54463	0.600000	0.82982	CCC		PASS	0.502	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		19	37	19	37	---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37953621	37953621	+	Missense_Mutation	SNP	G	G	C	rs150600953	byFrequency	TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chrX:37953621G>C	ENST00000357972.5	+	8	1451	c.905G>C	c.(904-906)cGc>cCc	p.R302P	SYTL5_ENST00000297875.2_Missense_Mutation_p.R302P|SYTL5_ENST00000456733.2_Missense_Mutation_p.R302P|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	302			R -> C (in dbSNP:rs57226394).		exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R302P(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AAGAGTCACCGCAGAAACACT	0.418																																						uc004ddu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(904-906)CGC>CCC		synaptotagmin-like 5 isoform 1							114.0	94.0	101.0					X																	37953621		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37953621G>C		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.905G>C	X.37:g.37953621G>C	ENSP00000350657:p.Arg302Pro					SYTL5_uc004ddv.2_Missense_Mutation_p.R302P|SYTL5_uc004ddx.2_Missense_Mutation_p.R302P	p.R302P	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			9	1439	+			302					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.905G>C	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	7.827	0.719013	0.15372	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.22539	1.95;1.95;2.35	4.86	-2.29	0.06805	.	0.780519	0.12570	N	0.457413	T	0.19565	0.0470	L	0.39633	1.23	0.09310	N	1	P;P	0.44309	0.832;0.832	P;B	0.45449	0.481;0.38	T	0.16041	-1.0416	10	0.41790	T	0.15	0.8302	11.1403	0.48398	0.6809:0.0:0.3191:0.0	.	302;302	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	P	302	ENSP00000297875:R302P;ENSP00000350657:R302P;ENSP00000395220:R302P	ENSP00000297875:R302P	R	+	2	0	SYTL5	37838565	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	-0.603000	0.05674	-0.591000	0.05859	-0.273000	0.10243	CGC		PASS	0.418	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		8	46	8	46	---	---	---	---
MAGED2	10916	broad.mit.edu	37	X	54837356	54837356	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chrX:54837356G>A	ENST00000375068.1	+	4	873	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000375053.2_Missense_Mutation_p.A214T|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000396224.1_Missense_Mutation_p.A214T|MAGED2_ENST00000347546.4_Missense_Mutation_p.A196T|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000218439.4_Missense_Mutation_p.A214T|MAGED2_ENST00000375058.1_Missense_Mutation_p.A214T			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	214						membrane (GO:0016020)		p.A214T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GGCCTCAATGGCCCGCAGGGC	0.607																																						uc004dtk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(640-642)GCC>ACC		melanoma antigen family D, 2							32.0	31.0	31.0					X																	54837356		2203	4300	6503	SO:0001583	missense	10916							g.chrX:54837356G>A	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.640G>A	X.37:g.54837356G>A	ENSP00000364209:p.Ala214Thr					MAGED2_uc004dtl.1_Missense_Mutation_p.A214T|MAGED2_uc004dtm.1_Intron|MAGED2_uc010nkc.1_Missense_Mutation_p.A214T|MAGED2_uc004dtn.1_Missense_Mutation_p.A214T|MAGED2_uc004dto.1_Missense_Mutation_p.A188T	p.A214T	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN			4	734	+			214					A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.640G>A	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422932	0.62733	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000218439;ENST00000375058;ENST00000396224	T;T;T;T;T;T;T	0.72835	3.83;3.83;3.68;-0.69;3.83;3.83;3.83	3.85	3.85	0.44370	.	0.000000	0.43416	D	0.000575	T	0.66317	0.2777	N	0.08118	0	0.34136	D	0.665879	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.971	T	0.70238	-0.4927	10	0.22706	T	0.39	.	12.7963	0.57560	0.0:0.0:1.0:0.0	.	196;214	Q9UNF1-2;Q9UNF1	.;MAGD2_HUMAN	T	214;214;158;196;214;214;214	ENSP00000364209:A214T;ENSP00000364193:A214T;ENSP00000336962:A158T;ENSP00000340290:A196T;ENSP00000218439:A214T;ENSP00000364198:A214T;ENSP00000379526:A214T	ENSP00000218439:A214T	A	+	1	0	MAGED2	54854081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.242000	0.58714	2.175000	0.68902	0.600000	0.82982	GCC		PASS	0.607	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		11	14	11	14	---	---	---	---
ZC4H2	55906	broad.mit.edu	37	X	64138932	64138932	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chrX:64138932G>T	ENST00000374839.3	-	4	657	c.551C>A	c.(550-552)cCa>cAa	p.P184Q	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.P161Q|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000545618.1_Missense_Mutation_p.P179Q	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	184					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.P184Q(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTTCATAGGTGGGGGCTGCTG	0.582																																						uc004dvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(550-552)CCA>CAA		zinc finger, C4H2 domain containing							54.0	52.0	53.0					X																	64138932		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64138932G>T	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.551C>A	X.37:g.64138932G>T	ENSP00000363972:p.Pro184Gln					ZC4H2_uc004dvv.2_Missense_Mutation_p.P161Q|ZC4H2_uc011mov.1_Missense_Mutation_p.P161Q|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	p.P184Q	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			4	639	-			184					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.551C>A	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484262	0.84854	.	.	ENSG00000126970	ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78553	0.4301	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80712	-0.1260	9	0.87932	D	0	.	16.0648	0.80863	0.0:0.0:1.0:0.0	.	184	Q9NQZ6	ZC4H2_HUMAN	Q	179;184;161	.	ENSP00000338650:P161Q	P	-	2	0	ZC4H2	64055657	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	9.529000	0.98049	2.482000	0.83794	0.600000	0.82982	CCA		PASS	0.582	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		20	47	20	47	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	85906111	85906111	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chrX:85906111A>T	ENST00000373125.4	+	4	713	c.713A>T	c.(712-714)cAg>cTg	p.Q238L	DACH2_ENST00000373131.1_Missense_Mutation_p.Q225L|DACH2_ENST00000510272.1_Missense_Mutation_p.Q19L|DACH2_ENST00000508860.1_Missense_Mutation_p.Q71L	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	238					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q238L(1)|p.Q225L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AACACTCTTCAGGGAAATGGA	0.428																																						uc004eew.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(712-714)CAG>CTG		dachshund 2 isoform a							99.0	77.0	85.0					X																	85906111		2203	4299	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85906111A>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.713A>T	X.37:g.85906111A>T	ENSP00000362217:p.Gln238Leu					DACH2_uc004eex.2_Missense_Mutation_p.Q225L|DACH2_uc010nmq.2_Missense_Mutation_p.Q104L|DACH2_uc011mra.1_Missense_Mutation_p.Q71L|DACH2_uc010nmr.2_Missense_Mutation_p.Q19L	p.Q238L	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			4	883	+			238					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.713A>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.053784	0.55218	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.83335	-1.71;-1.71	4.45	4.45	0.53987	.	0.091829	0.45361	D	0.000376	T	0.68705	0.3030	N	0.08118	0	0.35423	D	0.793387	P;B;B	0.36683	0.565;0.228;0.258	B;B;B	0.38562	0.276;0.236;0.119	T	0.74375	-0.3686	10	0.29301	T	0.29	.	13.0694	0.59053	1.0:0.0:0.0:0.0	.	104;225;238	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	L	238;225;238;71;19;71	ENSP00000362223:Q225L;ENSP00000362217:Q238L	ENSP00000345134:Q238L	Q	+	2	0	DACH2	85792767	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.576000	0.74023	1.452000	0.47756	0.417000	0.27973	CAG		PASS	0.428	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		11	18	11	18	---	---	---	---
NXF5	55998	broad.mit.edu	37	X	101096492	101096492	+	Silent	SNP	A	A	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chrX:101096492A>C	ENST00000361708.2	-	6	638	c.279T>G	c.(277-279)tcT>tcG	p.S93S	NXF5_ENST00000473265.2_Silent_p.S93S|NXF5_ENST00000537026.1_Silent_p.S93S			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	93					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S93S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TATTCTTCACAGAGTAGGGCG	0.473																																						uc011mrk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(277-279)TCT>TCG		nuclear RNA export factor 5							151.0	124.0	133.0					X																	101096492		2203	4300	6503	SO:0001819	synonymous_variant	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101096492A>C	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.279T>G	X.37:g.101096492A>C						NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.S93S	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			6	639	-			93					A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Silent	SNP	ENST00000361708.2	37	c.279T>G																																																																																					PASS	0.473	NXF5-201	KNOWN	basic	protein_coding	protein_coding				46	52	46	52	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135405370	135405370	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chrX:135405370C>A	ENST00000394143.1	+	5	795	c.504C>A	c.(502-504)agC>agA	p.S168R	GPR112_ENST00000370652.1_Missense_Mutation_p.S168R|GPR112_ENST00000287534.4_Missense_Mutation_p.S105R|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	168					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S168R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGAATGAGAGCAGCGAGGTTA	0.448																																						uc004ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(502-504)AGC>AGA		G-protein coupled receptor 112							175.0	153.0	160.0					X																	135405370		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405370C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.504C>A	X.37:g.135405370C>A	ENSP00000377699:p.Ser168Arg					GPR112_uc010nsb.1_Intron	p.S168R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			5	795	+	Acute lymphoblastic leukemia(192;0.000127)		168			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.504C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006344	0.07773	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.63417	3.28;3.28;-0.04	4.96	-0.261	0.12963	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.37128	0.0992	N	0.14661	0.345	0.09310	N	1	B	0.26195	0.144	B	0.25614	0.062	T	0.28522	-1.0041	9	0.56958	D	0.05	.	0.6689	0.00855	0.1641:0.2677:0.1904:0.3778	.	168	Q8IZF6	GP112_HUMAN	R	168;168;105	ENSP00000377699:S168R;ENSP00000359686:S168R;ENSP00000287534:S105R	ENSP00000287534:S105R	S	+	3	2	GPR112	135233036	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.858000	0.04281	-0.008000	0.14320	0.513000	0.50165	AGC		PASS	0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			63	121	63	121	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153688715	153688715	+	Silent	SNP	G	G	T			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chrX:153688715G>T	ENST00000369682.3	+	2	367	c.192G>T	c.(190-192)cgG>cgT	p.R64R		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	64	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.R64R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGAGCTGCGGGCCCATGTCA	0.672																																						uc004flm.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(190-192)CGG>CGT		plexin A3 precursor							38.0	38.0	38.0					X																	153688715		2201	4296	6497	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688715G>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.192G>T	X.37:g.153688715G>T							p.R64R	NM_017514	NP_059984	P51805	PLXA3_HUMAN			2	365	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		64			Sema.|Extracellular (Potential).		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.192G>T	CCDS14752.1																																																																																				PASS	0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		18	29	18	29	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248570379	248570379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr1:248570379delC	ENST00000366474.1	+	1	1084	c.1084delC	c.(1084-1086)caafs	p.Q362fs		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	362						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGGGTCCTCAAAGGGTGTC	0.512																																						uc010pzm.1																			0				pancreas(1)	1						c.(1084-1086)CAAfs		olfactory receptor, family 2, subfamily T,							128.0	138.0	135.0					1																	248570379		2203	4300	6503	SO:0001589	frameshift_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570379delC	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.1084delC	1.37:g.248570379delC	ENSP00000355430:p.Gln362fs						p.Q362fs	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	1084	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		362			Cytoplasmic (Potential).		Q6IEZ9	Frame_Shift_Del	DEL	ENST00000366474.1	37	c.1084delC	CCDS31115.1																																																																																					0.512	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			180	94	180	94	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179589011	179589011	+	Frame_Shift_Del	DEL	A	A	-			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr2:179589011delA	ENST00000591111.1	-	70	20364	c.20140delT	c.(20140-20142)tgcfs	p.C6714fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.C7031fs|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.C5787fs			Q8WZ42	TITIN_HUMAN	titin	12341	Ig-like 48.				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)			ACAGCTGTGCAGCTGCTTTTC	0.388																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(17359-17361)TGCfs		titin isoform N2-A							57.0	55.0	56.0					2																	179589011		1911	4127	6038	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179589011delA	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.20140delT	2.37:g.179589011delA	ENSP00000465570:p.Cys6714fs					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.C2448fs	p.C5787fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		69	17583	-			6714					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.17359delT																																																																																						0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	22	39	22	---	---	---	---
RBMXL2	27288	broad.mit.edu	37	11	7111477	7111477	+	Frame_Shift_Del	DEL	G	G	-			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:7111477delG	ENST00000306904.5	+	1	1313	c.1126delG	c.(1126-1128)ggafs	p.G377fs		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	377	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCAGGGGCGGAGGCCGTCT	0.597																																						uc001mfc.2																			0					0						c.(1126-1128)GGAfs		testes-specific heterogenous nuclear							11.0	13.0	12.0					11																	7111477		2199	4293	6492	SO:0001589	frameshift_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111477delG	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.1126delG	11.37:g.7111477delG	ENSP00000304139:p.Gly377fs						p.G376fs	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1313	+			376			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Frame_Shift_Del	DEL	ENST00000306904.5	37	c.1126delG	CCDS7777.1																																																																																					0.597	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		19	12	19	12	---	---	---	---
OR4A47	403253	broad.mit.edu	37	11	48510847	48510848	+	Frame_Shift_Ins	INS	-	-	C			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr11:48510847_48510848insC	ENST00000446524.1	+	1	579_580	c.503_504insC	c.(502-507)ggccccfs	p.GP168fs		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CCATTCTGTGGCCCCAATGTCA	0.46																																						uc010rhx.1																			0				ovary(1)|skin(1)	2						c.(502-504)GGCfs		olfactory receptor, family 4, subfamily A,																																				SO:0001589	frameshift_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510847_48510848insC	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.507dupC	11.37:g.48510851_48510851dupC	ENSP00000412752:p.Gly168fs						p.G168fs	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	503_504	+			168			Extracellular (Potential).			Frame_Shift_Ins	INS	ENST00000446524.1	37	c.503_504insC	CCDS31490.1																																																																																					0.460	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		143	82	143	82	---	---	---	---
CHTF18	63922	broad.mit.edu	37	16	843154	843155	+	Frame_Shift_Ins	INS	-	-	C	rs544053486		TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr16:843154_843155insC	ENST00000262315.9	+	14	1745_1746	c.1682_1683insC	c.(1681-1686)agccggfs	p.R562fs	CHTF18_ENST00000317063.6_Frame_Shift_Ins_p.R752fs|CHTF18_ENST00000455171.2_Frame_Shift_Ins_p.R590fs	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	562					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TTCCTGTACAGCCGGGGCCAGC	0.698																																						uc002cke.3																			0				kidney(1)	1						c.(1681-1683)AGCfs		CTF18, chromosome transmission fidelity factor																																				SO:0001589	frameshift_variant	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:843154_843155insC	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1684dupC	16.37:g.843156_843156dupC	ENSP00000262315:p.Arg562fs					CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Frame_Shift_Ins_p.S589fs|CHTF18_uc010brf.2_Frame_Shift_Ins_p.S143fs|CHTF18_uc002ckg.3_Frame_Shift_Ins_p.S79fs	p.S561fs	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN			14	1745_1746	+		Hepatocellular(780;0.00335)	561					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Frame_Shift_Ins	INS	ENST00000262315.9	37	c.1682_1683insC	CCDS45371.1																																																																																					0.698	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		21	12	21	12	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579545	7579545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-51-4079-01A-01D-1458-08	TCGA-51-4079-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0a43aade-225c-4a29-b1d8-6b930eb8a1db	db0707e0-4ea3-48c1-ab86-c2d249f6cc01	g.chr17:7579545delC	ENST00000269305.4	-	4	331	c.142delG	c.(142-144)gacfs	p.D49fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.D49fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D49fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D49fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.D49fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D49fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	49	Interaction with HRMT1L2.		D -> H (in sporadic cancers; somatic mutation).|D -> N (in a sporadic cancer; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S46_D49delSPDD(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCAATATCGTCCGGGGACAGC	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		12	Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(1)	p.0?(7)|p.D48fs*55(1)|p.D48D(1)|p.P13fs*18(1)|p.S46_D49delSPDD(1)|p.S33fs*23(1)	bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|prostate(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(142-144)GACfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							171.0	169.0	170.0					17																	7579545		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579545delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.142delG	17.37:g.7579545delC	ENSP00000269305:p.Asp49fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.D48fs|TP53_uc002gih.2_Frame_Shift_Del_p.D48fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.D48fs|TP53_uc010cni.1_Frame_Shift_Del_p.D48fs|TP53_uc002gij.2_Frame_Shift_Del_p.D48fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.D9fs|TP53_uc010cnk.1_Frame_Shift_Del_p.D63fs	p.D48fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	336	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	48		D -> G (in a sporadic cancer; somatic mutation).	TADII.|Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.142delG	CCDS11118.1																																																																																					0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		168	204	168	204	---	---	---	---
