#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
IFNLR1	163702	broad.mit.edu	37	1	24507335	24507335	+	Missense_Mutation	SNP	C	C	T	rs200375008	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:24507335C>T	ENST00000327535.1	-	2	80	c.68G>A	c.(67-69)cGt>cAt	p.R23H	IFNLR1_ENST00000327575.2_Missense_Mutation_p.R23H|IFNLR1_ENST00000374421.3_Missense_Mutation_p.R23H|IFNLR1_ENST00000374419.1_5'UTR|IFNLR1_ENST00000374418.3_Missense_Mutation_p.R23H	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	23					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											AGGGGCCAGACGGGGCCTCCC	0.612													C|||	3	0.000599042	0.0008	0.0	5008	,	,		15673	0.001		0.001	False		,,,				2504	0.0					uc001bis.2																			0					0						c.(67-69)CGT>CAT		interleukin 28 receptor, alpha isoform 1							41.0	43.0	42.0					1																	24507335		2203	4300	6503	SO:0001583	missense	163702				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity	g.chr1:24507335C>T	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.68G>A	1.37:g.24507335C>T	ENSP00000327824:p.Arg23His					IL28RA_uc001bir.2_Missense_Mutation_p.R23H|IL28RA_uc001bit.2_Missense_Mutation_p.R23H|IL28RA_uc001biu.2_Intron|IL28RA_uc001biv.2_Missense_Mutation_p.R23H	p.R23H	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	81	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	23			Extracellular (Potential).|Fibronectin type-III.		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	c.68G>A	CCDS248.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.11	1.540992	0.27563	.	.	ENSG00000185436	ENST00000327535;ENST00000327575;ENST00000374421;ENST00000374418	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.32	-10.6	0.00265	Immunoglobulin-like fold (1);	3.051560	0.00531	N	0.000218	T	0.50446	0.1616	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.14012	0.009;0.004;0.004;0.003	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.38757	-0.9646	10	0.49607	T	0.09	7.6281	1.2518	0.01983	0.1833:0.2206:0.1736:0.4224	.	23;23;23;23	Q8IU57-3;Q8IV66;Q8IU57;Q8IU57-2	.;.;I28RA_HUMAN;.	H	23	ENSP00000327824:R23H;ENSP00000328994:R23H;ENSP00000363542:R23H;ENSP00000363539:R23H	ENSP00000327824:R23H	R	-	2	0	IL28RA	24379922	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-5.696000	0.00104	-2.193000	0.00754	-0.229000	0.12294	CGT		0.612	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743	
C1orf177	163747	broad.mit.edu	37	1	55273597	55273597	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:55273597A>T	ENST00000371273.3	+	4	408	c.393A>T	c.(391-393)aaA>aaT	p.K131N	C1orf177_ENST00000358193.3_Missense_Mutation_p.K131N	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	131										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACAACCTCAAAGACTTCTTAG	0.547																																						uc001cyb.3																			0					0						c.(391-393)AAA>AAT		hypothetical protein LOC163747 isoform 2							67.0	77.0	74.0					1																	55273597		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55273597A>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.393A>T	1.37:g.55273597A>T	ENSP00000360320:p.Lys131Asn					C1orf177_uc001cya.3_Missense_Mutation_p.K131N	p.K131N	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			4	447	+			131					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.393A>T	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.526325	0.44969	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.26810	1.71;1.71	5.37	0.542	0.17174	.	0.083295	0.49916	D	0.000134	T	0.19005	0.0456	L	0.52364	1.645	0.38518	D	0.948646	B;B	0.23540	0.087;0.087	B;B	0.25759	0.063;0.063	T	0.06320	-1.0833	10	0.46703	T	0.11	-0.5244	4.1445	0.10209	0.5728:0.1746:0.2526:0.0	.	131;131	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	N	131	ENSP00000350924:K131N;ENSP00000360320:K131N	ENSP00000350924:K131N	K	+	3	2	C1orf177	55046185	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	0.646000	0.24797	0.355000	0.24131	0.459000	0.35465	AAA		0.547	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	
CELSR2	1952	broad.mit.edu	37	1	109801473	109801473	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:109801473G>A	ENST00000271332.3	+	2	3791	c.3730G>A	c.(3730-3732)Gtg>Atg	p.V1244M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1244	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATGCGCTGCGTGTCGGTGCT	0.692																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			0				ovary(4)|lung(3)|skin(1)	8						c.(3730-3732)GTG>ATG		cadherin EGF LAG seven-pass G-type receptor 2							43.0	37.0	39.0					1																	109801473		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801473G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3730G>A	1.37:g.109801473G>A	ENSP00000271332:p.Val1244Met						p.V1244M	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3791	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1244			EGF-like 1; calcium-binding.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3730G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425257	0.83667	.	.	ENSG00000143126	ENST00000271332	T	0.69040	-0.37	4.54	4.54	0.55810	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.70116	0.3187	M	0.75447	2.3	0.53005	D	0.999963	D	0.65815	0.995	P	0.56648	0.803	T	0.72937	-0.4140	9	0.52906	T	0.07	.	12.3354	0.55065	0.0853:0.0:0.9147:0.0	.	1244	Q9HCU4	CELR2_HUMAN	M	1244	ENSP00000271332:V1244M	ENSP00000271332:V1244M	V	+	1	0	CELSR2	109602996	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.257000	0.51500	2.521000	0.84997	0.462000	0.41574	GTG		0.692	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
MOV10	4343	broad.mit.edu	37	1	113239252	113239252	+	Splice_Site	SNP	G	G	A	rs560631173		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:113239252G>A	ENST00000413052.2	+	14	2372	c.1982G>A	c.(1981-1983)gGg>gAg	p.G661E	MOV10_ENST00000369645.1_Splice_Site_p.G661E|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Splice_Site_p.G605E|MOV10_ENST00000357443.2_Splice_Site_p.G661E|RP11-426L16.3_ENST00000421943.1_RNA	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	661					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGCTTCCCAGGGCTGATGGAA	0.602																																						uc001eck.2																			0				ovary(4)|skin(1)	5						c.(1981-1983)GGG>GAG		Mov10, Moloney leukemia virus 10, homolog							34.0	33.0	33.0					1																	113239252		2203	4300	6503	SO:0001630	splice_region_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113239252G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1982-1G>A	1.37:g.113239252G>A						MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.G661E|MOV10_uc001ecm.2_Missense_Mutation_p.G601E	p.G661E	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	14	2252	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	661					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1982G>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820060	0.90873	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.90386	0.6991	M	0.89095	3.005	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.91037	0.4868	9	.	.	.	.	18.485	0.90825	0.0:0.0:1.0:0.0	.	661	Q9HCE1	MOV10_HUMAN	E	661;661;605;661;599	ENSP00000399797:G661E;ENSP00000358659:G661E;ENSP00000358658:G605E;ENSP00000350028:G661E	.	G	+	2	0	MOV10	113040775	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.054000	0.89451	2.698000	0.92095	0.561000	0.74099	GGG		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	Missense_Mutation
TCHHL1	126637	broad.mit.edu	37	1	152060548	152060548	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152060548G>A	ENST00000368806.1	-	2	136	c.72C>T	c.(70-72)aaC>aaT	p.N24N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	24							calcium ion binding (GO:0005509)	p.N24N(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTTGCCCCGTTACTGTCCT	0.473																																						uc001ezo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(70-72)AAC>AAT		trichohyalin-like 1							155.0	146.0	149.0					1																	152060548		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152060548G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.72C>T	1.37:g.152060548G>A							p.N24N	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		2	137	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		24					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.72C>T	CCDS30857.1																																																																																				0.473	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
FLG	2312	broad.mit.edu	37	1	152278705	152278705	+	Missense_Mutation	SNP	C	C	T	rs369659011		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152278705C>T	ENST00000368799.1	-	3	8692	c.8657G>A	c.(8656-8658)cGc>cAc	p.R2886H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2886	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCTGGCGCCTGCTTCT	0.562									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8656-8658)CGC>CAC		filaggrin		C	HIS/ARG	0,4108		0,0,2054	92.0	149.0	131.0		8657	-6.8	0.0	1		131	1,8555		0,1,4277	no	missense	FLG	NM_002016.1	29	0,1,6331	TT,TC,CC		0.0117,0.0,0.0079	benign	2886/4062	152278705	1,12663	2054	4278	6332	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278705C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8657G>A	1.37:g.152278705C>T	ENSP00000357789:p.Arg2886His						p.R2886H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8693	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2886			Ser-rich.|Filaggrin 17.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8657G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	2.358	-0.347234	0.05208	0.0	1.17E-4	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01335	5.0	3.38	-6.77	0.01727	.	.	.	.	.	T	0.00328	0.0010	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.51772	-0.8663	9	0.06625	T	0.88	.	3.5086	0.07700	0.1189:0.4835:0.126:0.2716	.	2886	P20930	FILA_HUMAN	H	2886;148	ENSP00000357789:R2886H	ENSP00000357786:R148H	R	-	2	0	FLG	150545329	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.617000	0.00881	-2.651000	0.00424	-3.074000	0.00066	CGC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
KPRP	448834	broad.mit.edu	37	1	152733665	152733665	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152733665G>T	ENST00000606109.1	+	1	1629	c.1601G>T	c.(1600-1602)aGt>aTt	p.S534I	KPRP_ENST00000368773.1_Missense_Mutation_p.S534I			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	534						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCATCCAGTTACAACCAG	0.582																																						uc001fal.1																			0				ovary(4)|pancreas(1)	5						c.(1600-1602)AGT>ATT		keratinocyte proline-rich protein							75.0	69.0	71.0					1																	152733665		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733665G>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1601G>T	1.37:g.152733665G>T	ENSP00000475216:p.Ser534Ile						p.S534I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1659	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		534						Missense_Mutation	SNP	ENST00000606109.1	37	c.1601G>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287346	0.59976	.	.	ENSG00000203786	ENST00000368773	T	0.13657	2.57	4.37	0.0985	0.14498	.	1.192230	0.06125	N	0.669489	T	0.03915	0.0110	L	0.34521	1.04	0.09310	N	1	P	0.39157	0.662	B	0.39258	0.295	T	0.40232	-0.9574	10	0.66056	D	0.02	0.1132	5.1335	0.14922	0.1901:0.3228:0.4871:0.0	.	534	Q5T749	KPRP_HUMAN	I	534	ENSP00000357762:S534I	ENSP00000357762:S534I	S	+	2	0	KPRP	151000289	0.000000	0.05858	0.001000	0.08648	0.440000	0.31957	-0.464000	0.06688	-0.056000	0.13221	0.313000	0.20887	AGT		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
DDR2	4921	broad.mit.edu	37	1	162749984	162749984	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:162749984G>A	ENST00000367922.3	+	19	2954	c.2516G>A	c.(2515-2517)cGt>cAt	p.R839H	DDR2_ENST00000367921.3_Missense_Mutation_p.R839H|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	839	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ACGAAGAACCGTCCCTCATTC	0.498																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2																			0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(2515-2517)CGT>CAT		discoidin domain receptor family, member 2							184.0	167.0	173.0					1																	162749984		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162749984G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2516G>A	1.37:g.162749984G>A	ENSP00000356899:p.Arg839His					DDR2_uc001gcg.2_Missense_Mutation_p.R839H|uc001gch.1_5'Flank	p.R839H	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		19	2981	+	all_hematologic(112;0.115)		839			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.2516G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202165	0.94997	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.98362	-4.89;-4.89	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.99740	4.74	0.41307	D	0.987087	D	0.89917	1.0	D	0.97110	1.0	D	0.97657	1.0158	9	0.87932	D	0	.	18.3244	0.90248	0.0:0.0:1.0:0.0	.	839	Q16832	DDR2_HUMAN	H	839	ENSP00000356899:R839H;ENSP00000356898:R839H	ENSP00000356898:R839H	R	+	2	0	DDR2	161016608	1.000000	0.71417	0.953000	0.39169	0.955000	0.61496	9.726000	0.98782	2.671000	0.90904	0.650000	0.86243	CGT		0.498	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
KIFAP3	22920	broad.mit.edu	37	1	170007466	170007466	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:170007466C>T	ENST00000361580.2	-	5	709	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	KIFAP3_ENST00000367765.1_Missense_Mutation_p.R121Q|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R83Q|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R117Q	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	161					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)			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)					ATCAGGATTTCGAGCAAGCTG	0.308																																						uc001ggv.2																			0				skin(1)	1						c.(481-483)CGA>CAA		kinesin-associated protein 3							89.0	99.0	95.0					1																	170007466		2203	4300	6503	SO:0001583	missense	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.chr1:170007466C>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.482G>A	1.37:g.170007466C>T	ENSP00000354560:p.Arg161Gln					KIFAP3_uc010ply.1_Missense_Mutation_p.R83Q|KIFAP3_uc001ggw.1_Missense_Mutation_p.R117Q	p.R161Q	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			5	753	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		161					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.482G>A	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	36	5.643244	0.96704	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.73	5.73	0.89815	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.997	T	0.61461	-0.7058	9	.	.	.	-9.9159	19.8552	0.96755	0.0:1.0:0.0:0.0	.	83;117;161	B7Z8A3;B1AKU5;Q92845	.;.;KIFA3_HUMAN	Q	161;121;117;83	ENSP00000354560:R161Q;ENSP00000356739:R121Q;ENSP00000356741:R117Q;ENSP00000444622:R83Q	.	R	-	2	0	KIFAP3	168274090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.297000	0.78799	2.861000	0.98227	0.655000	0.94253	CGA		0.308	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970	
BRINP2	57795	broad.mit.edu	37	1	177199272	177199272	+	Missense_Mutation	SNP	G	G	A	rs201739935		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:177199272G>A	ENST00000361539.4	+	2	572	c.260G>A	c.(259-261)aGg>aAg	p.R87K		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	87	MACPF.				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)	extracellular region (GO:0005576)											ACCAGGTACAGGATTTATAGG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16228	0.0		0.001	False		,,,				2504	0.0					uc001glf.2																			0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(259-261)AGG>AAG		family with sequence similarity 5, member B		G	LYS/ARG	0,4402		0,0,2201	51.0	58.0	55.0		260	5.6	1.0	1		55	1,8591		0,1,4295	yes	missense	FAM5B	NM_021165.2	26	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	87/784	177199272	1,12993	2201	4296	6497	SO:0001583	missense	57795					extracellular region		g.chr1:177199272G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.260G>A	1.37:g.177199272G>A	ENSP00000354481:p.Arg87Lys						p.R87K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			2	572	+			87					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.260G>A	CCDS1320.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.152	1.016416	0.19355	0.0	1.16E-4	ENSG00000198797	ENST00000361539	D	0.81821	-1.54	5.63	5.63	0.86233	Membrane attack complex component/perforin (MACPF) domain (1);	0.060736	0.64402	D	0.000005	T	0.55049	0.1896	N	0.01289	-0.905	0.42229	D	0.991883	B	0.21071	0.051	B	0.15052	0.012	T	0.61505	-0.7049	10	0.02654	T	1	-21.7745	19.3046	0.94155	0.0:0.0:1.0:0.0	.	87	Q9C0B6	FAM5B_HUMAN	K	87	ENSP00000354481:R87K	ENSP00000354481:R87K	R	+	2	0	FAM5B	175465895	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.224000	0.58593	2.652000	0.90054	0.655000	0.94253	AGG		0.612	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
FAM13C	220965	broad.mit.edu	37	10	61023889	61023889	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr10:61023889A>G	ENST00000373868.2	-	9	1067	c.980T>C	c.(979-981)cTg>cCg	p.L327P	FAM13C_ENST00000442566.3_Missense_Mutation_p.L348P|FAM13C_ENST00000373867.3_Missense_Mutation_p.L244P|FAM13C_ENST00000422313.2_Missense_Mutation_p.L327P|FAM13C_ENST00000277705.6_Missense_Mutation_p.L348P|FAM13C_ENST00000435852.2_Missense_Mutation_p.L327P|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000468840.2_Missense_Mutation_p.L244P	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	327										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CATCCATTTCAGGACTTCAGG	0.453																																						uc001jkn.2																			0				ovary(2)	2						c.(979-981)CTG>CCG		hypothetical protein LOC220965 isoform 1							127.0	115.0	119.0					10																	61023889		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61023889A>G	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.980T>C	10.37:g.61023889A>G	ENSP00000362975:p.Leu327Pro					FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.L244P|FAM13C_uc010qie.1_Missense_Mutation_p.L244P|FAM13C_uc010qif.1_Missense_Mutation_p.L349P|FAM13C_uc001jkp.2_Missense_Mutation_p.L244P	p.L327P	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			10	1114	-			327					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.980T>C	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893777	0.72639	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000024	D	0.88562	0.6470	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.988;0.984;0.991;0.991	D	0.89827	0.3993	10	0.72032	D	0.01	-11.3229	16.3766	0.83401	1.0:0.0:0.0:0.0	.	327;244;327;327	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31	.;.;.;FA13C_HUMAN	P	244;327;348;348;244;327;327;105	ENSP00000362974:L244P;ENSP00000362975:L327P;ENSP00000395661:L348P;ENSP00000277705:L348P;ENSP00000423896:L244P;ENSP00000392302:L327P;ENSP00000400241:L327P;ENSP00000445068:L105P	ENSP00000277705:L348P	L	-	2	0	FAM13C	60693895	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.193000	0.72075	2.263000	0.75096	0.533000	0.62120	CTG		0.453	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
DCHS1	8642	broad.mit.edu	37	11	6655171	6655171	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:6655171C>G	ENST00000299441.3	-	4	2478	c.2067G>C	c.(2065-2067)gaG>gaC	p.E689D	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	689	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGCATACTCCCGTGGAT	0.557																																						uc001mem.1																			0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(2065-2067)GAG>GAC		dachsous 1 precursor							72.0	74.0	74.0					11																	6655171		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655171C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2067G>C	11.37:g.6655171C>G	ENSP00000299441:p.Glu689Asp						p.E689D	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2477	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	689			Cadherin 7.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.2067G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	8.664	0.901265	0.17760	.	.	ENSG00000166341	ENST00000299441	T	0.15834	2.39	4.38	3.37	0.38596	Cadherin (2);Cadherin-like (1);	0.380595	0.19242	N	0.119158	T	0.22627	0.0546	L	0.31420	0.93	0.29657	N	0.84354	D	0.58268	0.982	D	0.67548	0.952	T	0.02320	-1.1177	10	0.30854	T	0.27	.	7.0119	0.24867	0.0:0.7094:0.1815:0.1091	.	689	Q96JQ0	PCD16_HUMAN	D	689	ENSP00000299441:E689D	ENSP00000299441:E689D	E	-	3	2	DCHS1	6611747	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.630000	0.37081	2.267000	0.75376	0.561000	0.74099	GAG		0.557	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
WT1	7490	broad.mit.edu	37	11	32450114	32450114	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:32450114G>A	ENST00000379079.2	-	2	335	c.62C>T	c.(61-63)tCg>tTg	p.S21L	WT1_ENST00000530998.1_Missense_Mutation_p.S21L|WT1_ENST00000332351.3_Missense_Mutation_p.S233L|WT1_ENST00000448076.3_Missense_Mutation_p.S233L	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	165					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CGCATGGTGCGAGGGCGTGTG	0.632			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	1	Unknown(1)		kidney(1)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	GRCh37	CM983967	WT1	M		c.(697-699)TCG>TTG		Wilms tumor 1 isoform D							97.0	72.0	80.0					11																	32450114		2202	4299	6501	SO:0001583	missense	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32450114G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.62C>T	11.37:g.32450114G>A	ENSP00000368370:p.Ser21Leu					WT1_uc001mtl.1_Missense_Mutation_p.S21L|WT1_uc001mtm.1_Missense_Mutation_p.S21L|WT1_uc001mto.1_Missense_Mutation_p.S233L|WT1_uc001mtp.1_Missense_Mutation_p.S233L|WT1_uc001mtq.1_Missense_Mutation_p.S233L|WT1_uc009yjs.1_RNA	p.S233L	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		2	894	-	Breast(20;0.247)		165					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.698C>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908713	0.92107	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.45	5.45	0.79879	Wilm&apos (1);s tumour protein, N-terminal (1);	0.097481	0.42053	U	0.000776	D	0.89266	0.6666	L	0.52011	1.625	0.80722	D	1	D;D;D;D;D	0.64830	0.994;0.974;0.994;0.985;0.968	P;P;P;P;P	0.52109	0.64;0.687;0.69;0.542;0.503	D	0.89356	0.3664	10	0.54805	T	0.06	.	19.6639	0.95886	0.0:0.0:1.0:0.0	.	238;165;238;21;21	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	L	21;233;21;233;233	ENSP00000368370:S21L;ENSP00000331327:S233L;ENSP00000435307:S21L;ENSP00000415516:S233L;ENSP00000413452:S233L	ENSP00000331327:S233L	S	-	2	0	WT1	32406690	1.000000	0.71417	0.981000	0.43875	0.488000	0.33401	7.237000	0.78164	2.744000	0.94065	0.561000	0.74099	TCG		0.632	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
SLC22A25	387601	broad.mit.edu	37	11	62948177	62948177	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:62948177C>T	ENST00000306494.6	-	6	1024	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	SLC22A25_ENST00000403374.2_Missense_Mutation_p.R176H|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTTGGGTATGCGGAGCAATTC	0.383																																						uc001nwr.1																			0				ovary(3)|skin(1)	4						c.(1024-1026)CGC>CAC		putative UST1-like organic anion transporter							156.0	145.0	149.0					11																	62948177		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62948177C>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1025G>A	11.37:g.62948177C>T	ENSP00000307443:p.Arg342His					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.R342H	p.R342H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			6	1025	-			342			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.1025G>A	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	C	8.988	0.976953	0.18812	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.62788	-0.0;-0.0	3.39	-2.46	0.06461	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.322512	0.32736	N	0.005714	T	0.44644	0.1303	L	0.48877	1.53	0.09310	N	1	B;B	0.21147	0.052;0.046	B;B	0.23574	0.047;0.047	T	0.22103	-1.0226	10	0.28530	T	0.3	.	3.744	0.08541	0.1673:0.4294:0.0:0.4034	.	340;342	A4IF29;Q6T423	.;S22AP_HUMAN	H	342;176	ENSP00000307443:R342H;ENSP00000384208:R176H	ENSP00000307443:R342H	R	-	2	0	SLC22A25	62704753	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.215000	0.09279	-0.876000	0.04017	0.579000	0.79373	CGC		0.383	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352	
ARAP1	116985	broad.mit.edu	37	11	72423533	72423533	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:72423533G>A	ENST00000393609.3	-	6	1030	c.828C>T	c.(826-828)gaC>gaT	p.D276D	ARAP1_ENST00000393605.3_Silent_p.D36D|ARAP1_ENST00000334211.8_Silent_p.D31D|ARAP1_ENST00000426523.1_Silent_p.D31D|ARAP1_ENST00000359373.5_Silent_p.D276D|ARAP1_ENST00000455638.2_Silent_p.D276D|ARAP1_ENST00000429686.1_Silent_p.D31D	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	276					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCCTTGGTCGTCCCCAGACA	0.682																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2																			0				skin(1)	1						c.(826-828)GAC>GAT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							193.0	138.0	157.0					11																	72423533		2200	4293	6493	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72423533G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.828C>T	11.37:g.72423533G>A						ARAP1_uc001osv.2_Silent_p.D276D|ARAP1_uc001osr.2_Silent_p.D36D|ARAP1_uc001oss.2_Silent_p.D31D|ARAP1_uc009yth.2_Silent_p.D31D|ARAP1_uc010rre.1_Silent_p.D31D	p.D276D	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			6	1017	-			276					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.828C>T	CCDS41687.1																																																																																				0.682	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
PRCP	5547	broad.mit.edu	37	11	82564244	82564244	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:82564244A>G	ENST00000313010.3	-	3	580	c.386T>C	c.(385-387)cTc>cCc	p.L129P	PRCP_ENST00000535099.1_Missense_Mutation_p.L24P|PRCP_ENST00000393399.2_Missense_Mutation_p.L150P	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	129					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACCAAAGGGGAGAGACTCTCC	0.363																																						uc001ozs.2																			0				skin(1)	1						c.(385-387)CTC>CCC		prolylcarboxypeptidase isoform 1 preproprotein							100.0	88.0	92.0					11																	82564244		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82564244A>G	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.386T>C	11.37:g.82564244A>G	ENSP00000317362:p.Leu129Pro					PRCP_uc001ozr.2_Missense_Mutation_p.L150P	p.L129P	NM_005040	NP_005031	P42785	PCP_HUMAN			3	499	-			129					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.386T>C	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970328	0.74246	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126;ENST00000534264	D;D;D;D;D;D;T;T;T;D;T;T;T	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;2.49;2.49;2.49;-3.1;2.49;2.49;2.49	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.96824	0.8963	M	0.92122	3.275	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75484	0.967;0.986	D	0.97739	1.0207	9	.	.	.	-10.2938	14.8713	0.70459	1.0:0.0:0.0:0.0	.	129;150	P42785;A8MU24	PCP_HUMAN;.	P	129;150;24;24;24;24;24;24;88;24;75;24;24	ENSP00000317362:L129P;ENSP00000377055:L150P;ENSP00000442077:L24P;ENSP00000432004:L24P;ENSP00000431559:L24P;ENSP00000436141:L24P;ENSP00000431435:L24P;ENSP00000432506:L24P;ENSP00000434771:L88P;ENSP00000435071:L24P;ENSP00000437169:L75P;ENSP00000431496:L24P;ENSP00000436095:L24P	.	L	-	2	0	PRCP	82241892	0.992000	0.36948	0.793000	0.32043	0.881000	0.50899	8.947000	0.93000	1.911000	0.55334	0.528000	0.53228	CTC		0.363	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040	
TMEM19	55266	broad.mit.edu	37	12	72092727	72092727	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:72092727G>A	ENST00000266673.5	+	5	1279	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Missense_Mutation_p.G229S	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	229						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CAGTCTCCTTGGTGGTACCTT	0.443																																						uc001sws.2																			0					0						c.(685-687)GGT>AGT		transmembrane protein 19							285.0	232.0	250.0					12																	72092727		2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72092727G>A	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.685G>A	12.37:g.72092727G>A	ENSP00000266673:p.Gly229Ser					TMEM19_uc001swr.1_Missense_Mutation_p.G215S|TMEM19_uc009zru.1_RNA	p.G229S	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	5	1268	+		Breast(359;0.0889)	229			Helical; (Potential).		B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.685G>A	CCDS9002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.844387|5.844387	0.97016|0.97016	.|.	.|.	ENSG00000139291|ENSG00000139291	ENST00000266673;ENST00000549735;ENST00000546677;ENST00000546795|ENST00000550787	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.161276|.	0.56097|.	D|.	0.000030|.	D|.	0.88407|.	0.6428|.	H|H	0.96489|0.96489	3.83|3.83	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.80764|.	0.956;0.994|.	D|.	0.90900|.	0.4768|.	9|.	0.87932|.	D|.	0|.	-9.0932|-9.0932	19.0599|19.0599	0.93085|0.93085	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	229;229|.	Q96HH6;Q96HH6-2|.	TMM19_HUMAN;.|.	S|X	229;229;128;73|44	.|.	ENSP00000266673:G229S|.	G|W	+|+	1|2	0|0	TMEM19|TMEM19	70378994|70378994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.443	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279	
SOCS2	8835	broad.mit.edu	37	12	93968661	93968661	+	Silent	SNP	C	C	T	rs148086876		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:93968661C>T	ENST00000340600.2	+	3	901	c.303C>T	c.(301-303)gaC>gaT	p.D101D	SOCS2_ENST00000536696.2_Silent_p.D101D|SOCS2_ENST00000549206.1_Silent_p.D101D|SOCS2_ENST00000549122.1_Silent_p.D101D|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000551556.1_Silent_p.D101D	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	101	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AATACCAAGACGGAAAATTCA	0.378																																						uc001tcw.1																			0				lung(1)	1						c.(301-303)GAC>GAT		suppressor of cytokine signaling-2		C		0,4406		0,0,2203	86.0	80.0	82.0		303	0.6	1.0	12	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SOCS2	NM_003877.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		101/199	93968661	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8835				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	g.chr12:93968661C>T	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.303C>T	12.37:g.93968661C>T						SOCS2_uc001tcx.1_Silent_p.D101D|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Silent_p.D101D|SOCS2_uc001tcz.2_3'UTR	p.D101D	NM_003877	NP_003868	O14508	SOCS2_HUMAN			3	893	+			101			SH2.		A8K3D1|O14542|O95102|Q9UKS5	Silent	SNP	ENST00000340600.2	37	c.303C>T	CCDS9047.1																																																																																				0.378	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2		
RIC8B	55188	broad.mit.edu	37	12	107208579	107208579	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:107208579T>G	ENST00000392839.2	+	3	344	c.238T>G	c.(238-240)Tta>Gta	p.L80V	RIC8B_ENST00000355478.2_Missense_Mutation_p.L40V|RIC8B_ENST00000392837.4_Missense_Mutation_p.L80V|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	80					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAAAAAGGTTTTAGTTCCTGT	0.413																																						uc001tlx.2																			0				ovary(1)	1						c.(238-240)TTA>GTA		resistance to inhibitors of cholinesterase 8							89.0	82.0	84.0					12																	107208579		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107208579T>G	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.238T>G	12.37:g.107208579T>G	ENSP00000376583:p.Leu80Val					RIC8B_uc001tlw.2_Missense_Mutation_p.L80V|RIC8B_uc001tly.2_Missense_Mutation_p.L40V|RIC8B_uc001tlz.2_RNA	p.L80V	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			3	363	+			80					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.238T>G	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343514	0.61073	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478;ENST00000552619	T;T;T;T	0.65732	0.77;0.77;0.77;-0.17	5.36	4.2	0.49525	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77232	0.4100	M	0.83483	2.645	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.87578	0.996;0.998;0.998	T	0.77811	-0.2449	10	0.45353	T	0.12	-2.7896	9.1666	0.37054	0.0:0.1964:0.0:0.8036	.	40;80;80	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	V	80;80;40;64	ENSP00000376582:L80V;ENSP00000376583:L80V;ENSP00000347662:L40V;ENSP00000448743:L64V	ENSP00000347662:L40V	L	+	1	2	RIC8B	105732709	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.695000	0.47043	2.161000	0.67846	0.533000	0.62120	TTA		0.413	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157	
MLXIP	22877	broad.mit.edu	37	12	122613736	122613736	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:122613736G>A	ENST00000319080.7	+	4	791	c.659G>A	c.(658-660)cGg>cAg	p.R220Q						MLX interacting protein									p.R220Q(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATTGTGATCCGGGAGTATCAC	0.557																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	uc001ubq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(658-660)CGG>CAG		MLX interacting protein							51.0	56.0	54.0					12																	122613736		1939	4141	6080	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122613736G>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.659G>A	12.37:g.122613736G>A	ENSP00000312834:p.Arg220Gln					MLXIP_uc001ubr.2_5'UTR|MLXIP_uc001ubs.1_5'Flank	p.R220Q	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	4	659	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	220			Required for cytoplasmic localization.			Missense_Mutation	SNP	ENST00000319080.7	37	c.659G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.133811	0.94517	.	.	ENSG00000175727	ENST00000319080	T	0.28454	1.61	5.35	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	.	.	.	0.80722	D	1	D	0.63880	0.993	P	0.58077	0.832	T	0.57991	-0.7715	9	0.72032	D	0.01	-13.8192	15.2244	0.73339	0.0:0.0:0.8582:0.1417	.	220	Q9HAP2	MLXIP_HUMAN	Q	220	ENSP00000312834:R220Q	ENSP00000312834:R220Q	R	+	2	0	MLXIP	121179690	1.000000	0.71417	0.727000	0.30756	0.970000	0.65996	7.973000	0.88032	1.212000	0.43366	0.655000	0.94253	CGG		0.557	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938	
NUBP1	4682	broad.mit.edu	37	16	10837884	10837884	+	Missense_Mutation	SNP	G	G	A	rs201425370		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr16:10837884G>A	ENST00000283027.5	+	2	105	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	NUBP1_ENST00000433392.2_Missense_Mutation_p.R29Q|NUBP1_ENST00000571790.1_3'UTR	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CCCAACCAGCGGCTGTGCGCT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		13408	0.001		0.0	False		,,,				2504	0.0					uc002daa.1																			0				ovary(1)|skin(1)	2						c.(85-87)CGG>CAG		nucleotide binding protein 1							16.0	16.0	16.0					16																	10837884		2193	4297	6490	SO:0001583	missense	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10837884G>A	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"""nucleotide binding protein 1 (E.coli MinD like)"", ""nucleotide binding protein 1 (MinD homolog, E. coli)"""	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.86G>A	16.37:g.10837884G>A	ENSP00000283027:p.Arg29Gln					NUBP1_uc010bum.1_5'UTR|NUBP1_uc002dab.1_Missense_Mutation_p.R29Q	p.R29Q	NM_002484	NP_002475	P53384	NUBP1_HUMAN			2	109	+			29						Missense_Mutation	SNP	ENST00000283027.5	37	c.86G>A	CCDS10543.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	1	0.0017482517482517483	0	0.0	G	10.87	1.473077	0.26423	.	.	ENSG00000103274	ENST00000283027;ENST00000433392	T;T	0.16597	2.33;2.33	4.12	3.13	0.36017	.	0.642920	0.13872	N	0.356959	T	0.03739	0.0106	N	0.02876	-0.465	0.28235	N	0.925949	B;B	0.11235	0.001;0.004	B;B	0.09377	0.004;0.002	T	0.39702	-0.9601	10	0.11485	T	0.65	-21.661	5.0447	0.14477	0.1982:0.1738:0.628:0.0	.	29;29	P53384-2;P53384	.;NUBP1_HUMAN	Q	29	ENSP00000283027:R29Q;ENSP00000409654:R29Q	ENSP00000283027:R29Q	R	+	2	0	NUBP1	10745385	1.000000	0.71417	0.959000	0.39883	0.988000	0.76386	3.389000	0.52516	0.807000	0.34208	0.563000	0.77884	CGG		0.657	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484	
ANKRD11	29123	broad.mit.edu	37	16	89341552	89341552	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr16:89341552C>T	ENST00000301030.4	-	10	7978	c.7518G>A	c.(7516-7518)agG>agA	p.R2506R	ANKRD11_ENST00000378330.2_Silent_p.R2506R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2506					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.R2506R(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)		CCTCCTGCTGCCTGAACAGCT	0.662																																						uc002fmx.1																			1	Substitution - coding silent(1)		prostate(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(7516-7518)AGG>AGA		ankyrin repeat domain 11							23.0	20.0	21.0					16																	89341552		2196	4298	6494	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89341552C>T	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.7518G>A	16.37:g.89341552C>T						ANKRD11_uc002fmy.1_Silent_p.R2506R	p.R2506R	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)	10	7979	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2506					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7518G>A	CCDS32513.1																																																																																				0.662	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
C17orf74	201243	broad.mit.edu	37	17	7330635	7330635	+	Missense_Mutation	SNP	C	C	T	rs532496564		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:7330635C>T	ENST00000333870.3	+	3	1399	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	442						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCCCCTCCCCCGACCATGTTT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		18661	0.0		0.0	False		,,,				2504	0.001					uc002ggw.2																			0					0						c.(1324-1326)CCG>CTG		hypothetical protein LOC201243							47.0	52.0	51.0					17																	7330635		2006	4158	6164	SO:0001583	missense	201243					integral to membrane		g.chr17:7330635C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1325C>T	17.37:g.7330635C>T	ENSP00000328061:p.Pro442Leu					FGF11_uc010vtw.1_Intron	p.P442L	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	1398	+		Prostate(122;0.157)	442						Missense_Mutation	SNP	ENST00000333870.3	37	c.1325C>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509579	0.27036	.	.	ENSG00000184560	ENST00000333870	T	0.37058	1.22	4.58	1.41	0.22369	.	0.800861	0.10197	N	0.703854	T	0.18045	0.0433	N	0.24115	0.695	0.09310	N	1	P	0.42961	0.795	B	0.30572	0.117	T	0.13255	-1.0516	10	0.62326	D	0.03	-11.969	4.8783	0.13667	0.3827:0.5162:0.0:0.101	.	442	Q0P670	CQ074_HUMAN	L	442	ENSP00000328061:P442L	ENSP00000328061:P442L	P	+	2	0	C17orf74	7271359	0.000000	0.05858	0.002000	0.10522	0.124000	0.20399	0.047000	0.14056	0.621000	0.30232	0.491000	0.48974	CCG		0.647	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734	
PIK3R5	23533	broad.mit.edu	37	17	8792082	8792082	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:8792082G>A	ENST00000447110.1	-	10	1146	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A341V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A341V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	341				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATCTCTCTCGGCACAGTGCCC	0.617																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2																			0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1021-1023)GCC>GTC		phosphoinositide-3-kinase, regulatory subunit 5							110.0	105.0	107.0					17																	8792082		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792082G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1022C>T	17.37:g.8792082G>A	ENSP00000392812:p.Ala341Val					PIK3R5_uc010vuz.1_Missense_Mutation_p.A341V|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.P290S|PIK3R5_uc010cob.1_5'UTR	p.A341V	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			10	1089	-			341	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1022C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	7.516	0.655655	0.14580	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.78595	-1.19	5.51	2.36	0.29203	.	0.314311	0.34777	N	0.003689	T	0.60392	0.2265	N	0.24115	0.695	0.09310	N	1	B	0.26775	0.159	B	0.24848	0.056	T	0.50242	-0.8851	10	0.38643	T	0.18	-11.701	7.1878	0.25809	0.1483:0.0:0.712:0.1397	.	341	Q8WYR1	PI3R5_HUMAN	V	341	ENSP00000392812:A341V	ENSP00000269300:A341V	A	-	2	0	PIK3R5	8732807	0.412000	0.25392	0.006000	0.13384	0.340000	0.28889	2.120000	0.41968	0.647000	0.30713	0.650000	0.86243	GCC		0.617	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308	
FBXW10	10517	broad.mit.edu	37	17	18651317	18651317	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:18651317C>T	ENST00000395665.4	+	2	790	c.569C>T	c.(568-570)gCg>gTg	p.A190V	FBXW10_ENST00000395667.1_Missense_Mutation_p.A190V|FBXW10_ENST00000301938.4_Missense_Mutation_p.A190V|FBXW10_ENST00000308799.4_Missense_Mutation_p.A190V			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	190										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCAAGTCTGCGACCTCACAA	0.478																																						uc002guk.2																			0				ovary(1)	1						c.(568-570)GCG>GTG		F-box and WD-40 domain protein 10							34.0	35.0	34.0					17																	18651317		2201	4276	6477	SO:0001583	missense	10517							g.chr17:18651317C>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.569C>T	17.37:g.18651317C>T	ENSP00000379025:p.Ala190Val					FBXW10_uc002guj.2_Missense_Mutation_p.A190V|FBXW10_uc002gul.2_Missense_Mutation_p.A190V|FBXW10_uc010cqh.1_Missense_Mutation_p.A190V	p.A190V	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			2	801	+			190			WD 1.		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.569C>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	2.186	-0.386322	0.04966	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	2.08	-0.363	0.12556	.	0.637187	0.15213	N	0.274345	T	0.09291	0.0229	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.35699	-0.9778	10	0.10902	T	0.67	.	2.8461	0.05543	0.4836:0.266:0.0:0.2504	.	190;190;190;190	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	V	190	ENSP00000379026:A190V;ENSP00000310382:A190V;ENSP00000306937:A190V;ENSP00000379025:A190V	ENSP00000306937:A190V	A	+	2	0	FBXW10	18592042	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	0.325000	0.19628	-0.130000	0.11599	-2.016000	0.00434	GCG		0.478	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	
PIPOX	51268	broad.mit.edu	37	17	27380567	27380567	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:27380567G>C	ENST00000323372.4	+	4	940	c.614G>C	c.(613-615)tGg>tCg	p.W205S	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	205					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCAGGTCCTTGGACCAACCAG	0.567																																						uc002hdr.1																			0					0						c.(613-615)TGG>TCG		pipecolic acid oxidase	Glycine(DB00145)						96.0	88.0	90.0					17																	27380567		2203	4300	6503	SO:0001583	missense	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27380567G>C	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.614G>C	17.37:g.27380567G>C	ENSP00000317721:p.Trp205Ser						p.W205S	NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		4	940	+	Lung NSC(42;0.015)		205					B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	c.614G>C	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682957	0.88542	.	.	ENSG00000179761	ENST00000323372	D	0.85411	-1.98	5.77	5.77	0.91146	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94762	0.7937	10	0.87932	D	0	-12.784	19.1176	0.93348	0.0:0.0:1.0:0.0	.	205	Q9P0Z9	SOX_HUMAN	S	205	ENSP00000317721:W205S	ENSP00000317721:W205S	W	+	2	0	PIPOX	24404693	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.247000	0.89830	2.884000	0.98904	0.655000	0.94253	TGG		0.567	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518	
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G	rs397833613		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291									leucine rich repeat containing 37B pseudogene 1																		AGTTCCAGGATATGACTATAA	0.264																																						uc002hfl.3																			0					0						c.(496-498)TAT>GAT		RecName: Full=Putative LRRC37B-like protein 2;																																						147172							g.chr17:28961033T>G	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961033T>G						LRRC37B2_uc010csj.1_Intron|LRRC37B2_uc010wbq.1_RNA|LRRC37B2_uc010csi.2_RNA	p.Y166D							5	727	+									Missense_Mutation	SNP	ENST00000417404.1	37	c.496T>G																																																																																					0.264	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341	
SLC35B1	10237	broad.mit.edu	37	17	47780551	47780551	+	Splice_Site	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:47780551T>C	ENST00000240333.6	-	7	882	c.761A>G	c.(760-762)cAg>cGg	p.Q254R	SLC35B1_ENST00000415270.2_Splice_Site_p.Q291R			P78383	S35B1_HUMAN	solute carrier family 35, member B1	254					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGCACTCACCTGACCCAGGGC	0.547																																						uc002iph.1																			0					0						c.(760-762)CAG>CGG		solute carrier family 35, member B1							78.0	71.0	73.0					17																	47780551		2203	4300	6503	SO:0001630	splice_region_variant	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47780551T>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.762+1A>G	17.37:g.47780551T>C						SLC35B1_uc002ipi.1_Missense_Mutation_p.Q187R|SLC35B1_uc002ipj.1_Missense_Mutation_p.Q130R	p.Q254R	NM_005827	NP_005818	P78383	S35B1_HUMAN			7	848	-			254			Helical; (Potential).		B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.761A>G	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904216	0.92035	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.36699	1.24;1.24;1.24	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81771	-0.0780	10	0.87932	D	0	-1.4805	14.5786	0.68268	0.0:0.0:0.0:1.0	.	187;254	D3DTX1;P78383	.;S35B1_HUMAN	R	254;291;130;130;187	ENSP00000240333:Q254R;ENSP00000409548:Q291R;ENSP00000423323:Q187R	ENSP00000240333:Q254R	Q	-	2	0	SLC35B1	45135550	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.866000	0.69590	2.098000	0.63641	0.459000	0.35465	CAG		0.547	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827	Missense_Mutation
KCNH6	81033	broad.mit.edu	37	17	61613122	61613122	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:61613122G>A	ENST00000583023.1	+	6	1205	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	KCNH6_ENST00000456941.2_Silent_p.A398A|KCNH6_ENST00000580652.1_Silent_p.A398A|KCNH6_ENST00000581784.1_Silent_p.A398A|KCNH6_ENST00000314672.5_Silent_p.A398A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	398					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGTATGGGGCGGCTGTGCTCT	0.617																																						uc002jay.2																			0				skin(1)	1						c.(1192-1194)GCG>GCA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						96.0	83.0	88.0					17																	61613122		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613122G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1194G>A	17.37:g.61613122G>A						KCNH6_uc002jax.1_Silent_p.A398A|KCNH6_uc010wpl.1_Silent_p.A275A|KCNH6_uc010wpm.1_Silent_p.A398A|KCNH6_uc002jaz.1_Silent_p.A398A	p.A398A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			6	1274	+			398			Cytoplasmic (Potential).		Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.1194G>A	CCDS11638.1																																																																																				0.617	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779	
TMEM105	284186	broad.mit.edu	37	17	79287573	79287573	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:79287573C>T	ENST00000332900.1	-	3	817	c.268G>A	c.(268-270)Ggg>Agg	p.G90R		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	90						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CCAGACTGCCCCCAGGCAGGC	0.662																																						uc002kad.1																			0				ovary(1)	1						c.(268-270)GGG>AGG		transmembrane protein 105							61.0	70.0	67.0					17																	79287573		2203	4300	6503	SO:0001583	missense	284186					integral to membrane		g.chr17:79287573C>T	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.268G>A	17.37:g.79287573C>T	ENSP00000329795:p.Gly90Arg						p.G90R	NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)		3	818	-	all_neural(118;0.0804)|Melanoma(429;0.242)		90						Missense_Mutation	SNP	ENST00000332900.1	37	c.268G>A	CCDS11781.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560019	0.27827	.	.	ENSG00000185332	ENST00000332900	T	0.58797	0.31	2.13	1.1	0.20463	.	.	.	.	.	T	0.37517	0.1006	N	0.08118	0	0.09310	N	1	P	0.49185	0.92	P	0.46585	0.521	T	0.20605	-1.0270	9	0.87932	D	0	.	4.0037	0.09592	0.0:0.763:0.0:0.237	.	90	Q8N8V8	TM105_HUMAN	R	90	ENSP00000329795:G90R	ENSP00000329795:G90R	G	-	1	0	TMEM105	76902168	0.049000	0.20398	0.006000	0.13384	0.443000	0.32047	1.302000	0.33459	0.423000	0.26033	0.491000	0.48974	GGG		0.662	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520	
LAMA1	284217	broad.mit.edu	37	18	7010303	7010303	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr18:7010303G>C	ENST00000389658.3	-	26	3862	c.3769C>G	c.(3769-3771)Caa>Gaa	p.Q1257E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1257	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATGAGAACTTGAGGCTCAAAA	0.463																																						uc002knm.2																			0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3769-3771)CAA>GAA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						150.0	134.0	139.0					18																	7010303		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7010303G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3769C>G	18.37:g.7010303G>C	ENSP00000374309:p.Gln1257Glu					LAMA1_uc010wzj.1_Missense_Mutation_p.Q733E	p.Q1257E	NM_005559	NP_005550	P25391	LAMA1_HUMAN			26	3863	-		Colorectal(10;0.172)	1257			Laminin IV type A 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3769C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904412	0.92035	.	.	ENSG00000101680	ENST00000389658	T	0.35789	1.29	5.57	5.57	0.84162	Laminin B type IV (2);Laminin B, subgroup (1);	0.062829	0.64402	D	0.000005	T	0.59088	0.2168	M	0.73319	2.225	0.58432	D	0.999999	D	0.64830	0.994	D	0.64237	0.923	T	0.54503	-0.8284	10	0.35671	T	0.21	.	19.5478	0.95307	0.0:0.0:1.0:0.0	.	1257	P25391	LAMA1_HUMAN	E	1257	ENSP00000374309:Q1257E	ENSP00000374309:Q1257E	Q	-	1	0	LAMA1	7000303	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.632000	0.89209	0.579000	0.79373	CAA		0.463	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
MIDN	90007	broad.mit.edu	37	19	1250466	1250466	+	Silent	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:1250466C>G	ENST00000591446.2	+	1	580	c.171C>G	c.(169-171)cgC>cgG	p.R57R	MIDN_ENST00000300952.2_Silent_p.R57R			Q504T8	MIDN_HUMAN	midnolin	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		AGGGGCTGCGCAAGCGGTTGT	0.736																																						uc002lrp.2																			0					0						c.(169-171)CGC>CGG		midnolin							13.0	13.0	13.0					19																	1250466		2130	4204	6334	SO:0001819	synonymous_variant	90007					nucleolus		g.chr19:1250466C>G	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.171C>G	19.37:g.1250466C>G							p.R57R	NM_177401	NP_796375	Q504T8	MIDN_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)	2	686	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	57			Ubiquitin-like.		Q96BW8	Silent	SNP	ENST00000591446.2	37	c.171C>G	CCDS32864.1																																																																																				0.736	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2		
ICAM3	3385	broad.mit.edu	37	19	10444148	10444148	+	IGR	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:10444148C>T	ENST00000160262.5	-	0	1934				RAVER1_ENST00000293677.6_Silent_p.P29P	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3						extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TAGGGCTCAGCGGGGGCCGGT	0.692																																						uc002moa.2																			0				ovary(1)	1						c.(85-87)CCG>CCA		RAVER1							21.0	26.0	25.0					19																	10444148		1831	4069	5900	SO:0001628	intergenic_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10444148C>T		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942			19.37:g.10444148C>T							p.P29P	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		1	167	-			12					Q6PD68	Silent	SNP	ENST00000160262.5	37	c.87G>A	CCDS12235.1																																																																																				0.692	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1		
USHBP1	83878	broad.mit.edu	37	19	17366376	17366376	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:17366376G>A	ENST00000252597.3	-	10	1683	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	USHBP1_ENST00000431146.2_Missense_Mutation_p.R440W|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 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						TTCTCACGCCGCACCAGCTGC	0.647																																						uc002nfs.1																			0				ovary(1)	1						c.(1510-1512)CGG>TGG		Usher syndrome 1C binding protein 1							14.0	16.0	15.0					19																	17366376		2194	4285	6479	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17366376G>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.1510C>T	19.37:g.17366376G>A	ENSP00000252597:p.Arg504Trp					USHBP1_uc002nfr.1_Missense_Mutation_p.R130W|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R440W	p.R504W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			10	1623	-			504			Potential.			Missense_Mutation	SNP	ENST00000252597.3	37	c.1510C>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711483	0.30322	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.19806	2.12;2.12	5.07	-1.43	0.08884	.	0.327983	0.26352	N	0.024871	T	0.32102	0.0818	L	0.57536	1.79	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	P;P	0.62885	0.908;0.908	T	0.09751	-1.0660	10	0.87932	D	0	-23.8034	8.5072	0.33195	0.0:0.1342:0.2693:0.5965	.	440;504	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	W	504;440	ENSP00000252597:R504W;ENSP00000407902:R440W	ENSP00000252597:R504W	R	-	1	2	USHBP1	17227376	0.024000	0.19004	0.015000	0.15790	0.015000	0.08874	0.607000	0.24209	0.153000	0.19213	-0.122000	0.15005	CGG		0.647	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	
DUXA	503835	broad.mit.edu	37	19	57669765	57669766	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:57669765_57669766insT	ENST00000554048.2	-	4	367_368	c.368_369insA	c.(367-369)aacfs	p.N123fs		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		CAGGATATGGGTTTTTCATAAA	0.47																																						uc002qoa.1																			0				ovary(1)	1						c.(367-369)AACfs		double homeobox A																																				SO:0001589	frameshift_variant	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57669765_57669766insT		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.369dupA	19.37:g.57669770_57669770dupT	ENSP00000452398:p.Asn123fs						p.N123fs	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	4	413_414	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	123			Homeobox 2.			Frame_Shift_Ins	INS	ENST00000554048.2	37	c.368_369insA	CCDS33126.1																																																																																				0.470	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729	
ZAP70	7535	broad.mit.edu	37	2	98354224	98354224	+	Missense_Mutation	SNP	G	G	A	rs150631046		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:98354224G>A	ENST00000264972.5	+	12	1702	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ZAP70_ENST00000442208.1_Missense_Mutation_p.R370H|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.R189H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCAGGCCCGCTCAGCAGGG	0.627																																						uc002syd.1																			0				lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1486-1488)CGC>CAC		zeta-chain associated protein kinase 70kDa		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	78.0	88.0	85.0		1487,566	5.2	1.0	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZAP70	NM_001079.3,NM_207519.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	496/620,189/313	98354224	1,13005	2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354224G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1487G>A	2.37:g.98354224G>A	ENSP00000264972:p.Arg496His					ZAP70_uc002sye.1_Missense_Mutation_p.R386H|ZAP70_uc002syf.1_Missense_Mutation_p.R189H	p.R496H	NM_001079	NP_001070	P43403	ZAP70_HUMAN			12	1694	+			496			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1487G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206886	0.79127	0.0	1.16E-4	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.83250	-1.7;-1.7;-1.7	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000406	T	0.80839	0.4700	N	0.24115	0.695	0.51233	D	0.99991	D;D	0.76494	0.999;0.999	P;D	0.62955	0.864;0.909	T	0.75371	-0.3341	10	0.15952	T	0.53	.	10.1268	0.42654	0.0915:0.0:0.9085:0.0	.	370;496	P43403-3;P43403	.;ZAP70_HUMAN	H	496;370;189	ENSP00000264972:R496H;ENSP00000411141:R370H;ENSP00000400475:R189H	ENSP00000264972:R496H	R	+	2	0	ZAP70	97720656	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.334000	0.72944	2.610000	0.88304	0.655000	0.94253	CGC		0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1		
SCN7A	6332	broad.mit.edu	37	2	167262324	167262324	+	Silent	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:167262324T>C	ENST00000409855.1	-	25	4941	c.4815A>G	c.(4813-4815)ttA>ttG	p.L1605L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1605					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAGGGTTGGCTAACAAAAACC	0.368																																						uc002udu.1																			0				large_intestine(1)	1						c.(4813-4815)TTA>TTG		sodium channel, voltage-gated, type VII, alpha							154.0	150.0	152.0					2																	167262324		1869	4109	5978	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262324T>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4815A>G	2.37:g.167262324T>C							p.L1605L	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			25	4942	-			1605						Silent	SNP	ENST00000409855.1	37	c.4815A>G	CCDS46442.1																																																																																				0.368	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
DNAH7	56171	broad.mit.edu	37	2	196741332	196741332	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:196741332A>G	ENST00000312428.6	-	37	6153	c.6053T>C	c.(6052-6054)aTt>aCt	p.I2018T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2018	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACATGACAATATTCTGAGT	0.363																																						uc002utj.3																			0				skin(10)|ovary(2)	12						c.(6052-6054)ATT>ACT		dynein, axonemal, heavy chain 7							154.0	139.0	143.0					2																	196741332		1846	4085	5931	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196741332A>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6053T>C	2.37:g.196741332A>G	ENSP00000311273:p.Ile2018Thr						p.I2018T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			37	6154	-			2018			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6053T>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273580	0.80580	.	.	ENSG00000118997	ENST00000312428	T	0.37584	1.19	5.39	5.39	0.77823	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	L	0.49455	1.56	0.80722	D	1	D	0.56746	0.977	D	0.67382	0.951	T	0.38845	-0.9642	10	0.24483	T	0.36	.	15.2338	0.73413	1.0:0.0:0.0:0.0	.	2018	Q8WXX0	DYH7_HUMAN	T	2018	ENSP00000311273:I2018T	ENSP00000311273:I2018T	I	-	2	0	DNAH7	196449577	1.000000	0.71417	0.993000	0.49108	0.939000	0.58152	8.784000	0.91818	2.270000	0.75569	0.477000	0.44152	ATT		0.363	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
AAMP	14	broad.mit.edu	37	2	219131281	219131281	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:219131281G>A	ENST00000248450.4	-	5	734	c.564C>T	c.(562-564)gtC>gtT	p.V188V	AAMP_ENST00000420660.1_Silent_p.V169V|AAMP_ENST00000444053.1_Silent_p.V189V			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	188					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCCAACAGGACAGGTGCCC	0.642																																						uc002vhk.2																			0				ovary(1)	1						c.(562-564)GTC>GTT		angio-associated, migratory cell protein							45.0	42.0	43.0					2																	219131281		2203	4300	6503	SO:0001819	synonymous_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219131281G>A	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.564C>T	2.37:g.219131281G>A						AAMP_uc002vhj.2_Silent_p.V169V|AAMP_uc010fvo.2_Silent_p.V188V|AAMP_uc002vhl.2_Silent_p.V189V	p.V188V	NM_001087	NP_001078	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	648	-		Renal(207;0.0474)	188			WD 3.		Q8WUJ9|Q96H92	Silent	SNP	ENST00000248450.4	37	c.564C>T	CCDS33378.1																																																																																				0.642	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087	
PROKR2	128674	broad.mit.edu	37	20	5282952	5282952	+	Missense_Mutation	SNP	C	C	T	rs139399061	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:5282952C>T	ENST00000217270.3	-	2	888	c.889G>A	c.(889-891)Gtt>Att	p.V297I	PROKR2_ENST00000546004.1_Missense_Mutation_p.V297I	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	297					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)																												uc010zqw.1																			0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(889-891)GTT>ATT		prokineticin receptor 2		C	ILE/VAL	0,4406		0,0,2203	148.0	111.0	124.0		889	4.1	1.0	20	dbSNP_134	124	10,8590	7.7+/-29.5	0,10,4290	yes	missense	PROKR2	NM_144773.2	29	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	possibly-damaging	297/385	5282952	10,12996	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282952C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.889G>A	20.37:g.5282952C>T	ENSP00000217270:p.Val297Ile	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.V297I|PROKR2_uc010zqy.1_Missense_Mutation_p.V297I	p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	889	-			297			Extracellular (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.889G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375503	0.42105	0.0	0.001163	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.37235	1.21;1.21	5.05	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.204797	0.42682	N	0.000680	T	0.34687	0.0906	L	0.31804	0.96	0.38139	D	0.938404	D	0.63880	0.993	P	0.51895	0.683	T	0.15780	-1.0425	10	0.33141	T	0.24	.	11.1459	0.48430	0.0:0.9089:0.0:0.0911	.	297	Q8NFJ6	PKR2_HUMAN	I	297	ENSP00000440790:V297I;ENSP00000217270:V297I	ENSP00000217270:V297I	V	-	1	0	PROKR2	5230952	0.903000	0.30736	1.000000	0.80357	0.963000	0.63663	1.584000	0.36589	1.132000	0.42129	0.655000	0.94253	GTT		0.562	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
PCSK2	5126	broad.mit.edu	37	20	17389925	17389925	+	Silent	SNP	C	C	T	rs139215444		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:17389925C>T	ENST00000262545.2	+	6	876	c.561C>T	c.(559-561)taC>taT	p.Y187Y	PCSK2_ENST00000536609.1_Silent_p.Y152Y|PCSK2_ENST00000377899.1_Silent_p.Y168Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	187	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGCAAGTTACGACTTCAGCA	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18249	0.0		0.0	False		,,,				2504	0.0					uc002wpm.2																			0				ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(559-561)TAC>TAT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	,,	6,4400	11.4+/-27.6	0,6,2197	196.0	168.0	177.0		504,456,561	0.8	1.0	20	dbSNP_134	177	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PCSK2	NM_001201528.1,NM_001201529.1,NM_002594.3	,,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,,	168/620,152/604,187/639	17389925	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17389925C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.561C>T	20.37:g.17389925C>T						PCSK2_uc002wpl.2_Silent_p.Y168Y|PCSK2_uc010zrm.1_Silent_p.Y152Y	p.Y187Y	NM_002594	NP_002585	P16519	NEC2_HUMAN			6	881	+			187			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.561C>T	CCDS13125.1																																																																																				0.483	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
OPRL1	4987	broad.mit.edu	37	20	62729348	62729348	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:62729348G>A	ENST00000349451.3	+	5	839	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	OPRL1_ENST00000336866.2_Missense_Mutation_p.A143T|OPRL1_ENST00000355631.4_Missense_Mutation_p.A143T	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	143					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CACCCTAACTGCCATGAGTGT	0.572																																						uc002yic.2																			0				central_nervous_system(1)|skin(1)	2						c.(427-429)GCC>ACC		opiate receptor-like 1							212.0	181.0	192.0					20																	62729348		2203	4300	6503	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729348G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.427G>A	20.37:g.62729348G>A	ENSP00000336764:p.Ala143Thr					OPRL1_uc002yid.2_Missense_Mutation_p.A143T|OPRL1_uc002yif.3_Missense_Mutation_p.A138T	p.A143T	NM_182647	NP_872588	P41146	OPRX_HUMAN			4	829	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		143			Helical; Name=3; (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.427G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564692	0.45694	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.19806	2.12;2.12;2.12	5.05	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.263469	0.37053	N	0.002264	T	0.12305	0.0299	L	0.28400	0.85	0.32875	D	0.509731	B;P	0.43231	0.358;0.801	B;B	0.39971	0.152;0.315	T	0.06661	-1.0814	10	0.19590	T	0.45	.	4.8281	0.13427	0.31:0.0:0.69:0.0	.	138;143	P41146-2;P41146	.;OPRX_HUMAN	T	143	ENSP00000336843:A143T;ENSP00000347848:A143T;ENSP00000336764:A143T	ENSP00000336843:A143T	A	+	1	0	OPRL1	62199792	1.000000	0.71417	0.983000	0.44433	0.748000	0.42578	3.891000	0.56227	2.374000	0.81015	0.551000	0.68910	GCC		0.572	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647	
TMPRSS15	5651	broad.mit.edu	37	21	19775931	19775931	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:19775931C>T	ENST00000284885.3	-	1	42	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	3						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGCCTCTTTTCGACCCCATTT	0.353																																						uc002ykw.2																			0				ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(7-9)TCG>TCA		enterokinase precursor							121.0	117.0	118.0					21																	19775931		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19775931C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.9G>A	21.37:g.19775931C>T							p.S3S	NM_002772	NP_002763	P98073	ENTK_HUMAN			1	40	-			3			Cytoplasmic (Potential).		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.9G>A	CCDS13571.1																																																																																				0.353	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
CLDN17	26285	broad.mit.edu	37	21	31538845	31538845	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:31538845T>C	ENST00000286808.3	-	1	126	c.91A>G	c.(91-93)Aga>Gga	p.R31G		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	31					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GCTGATACTCTCCACTGAGGC	0.507																																						uc011acv.1																			0				ovary(2)	2						c.(91-93)AGA>GGA		claudin 17							70.0	71.0	71.0					21																	31538845		2203	4300	6503	SO:0001583	missense	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538845T>C	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.91A>G	21.37:g.31538845T>C	ENSP00000286808:p.Arg31Gly						p.R31G	NM_012131	NP_036263	P56750	CLD17_HUMAN			1	91	-			31			Extracellular (Potential).		Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	c.91A>G	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857671	0.71834	.	.	ENSG00000156282	ENST00000286808	D	0.88586	-2.4	5.04	2.59	0.31030	.	0.049983	0.85682	D	0.000000	D	0.95373	0.8498	H	0.94264	3.515	0.47123	D	0.999321	D	0.76494	0.999	D	0.79108	0.992	D	0.95145	0.8267	10	0.87932	D	0	.	11.9559	0.52981	0.0:0.0:0.275:0.725	.	31	P56750	CLD17_HUMAN	G	31	ENSP00000286808:R31G	ENSP00000286808:R31G	R	-	1	2	CLDN17	30460716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.909000	0.63314	0.447000	0.26695	0.533000	0.62120	AGA		0.507	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131	
MX2	4600	broad.mit.edu	37	21	42762561	42762561	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:42762561G>C	ENST00000330714.3	+	6	986	c.802G>C	c.(802-804)Gtg>Ctg	p.V268L	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	268	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V268M(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCCTGTAACGTGGACATTGC	0.557																																						uc002yzf.1																			1	Substitution - Missense(1)		prostate(1)	ovary(2)	2						c.(802-804)GTG>CTG		myxovirus resistance protein 2							208.0	164.0	179.0					21																	42762561		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42762561G>C		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.802G>C	21.37:g.42762561G>C	ENSP00000333657:p.Val268Leu					MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	p.V268L	NM_002463	NP_002454	P20592	MX2_HUMAN			6	906	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	268					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.802G>C	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948676	0.73787	.	.	ENSG00000183486	ENST00000330714	D	0.97041	-4.22	3.92	2.07	0.26955	Dynamin, GTPase domain (2);	0.071683	0.56097	U	0.000038	D	0.98359	0.9455	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97948	1.0330	10	0.87932	D	0	-17.992	9.399	0.38420	0.1854:0.0:0.8146:0.0	.	268	P20592	MX2_HUMAN	L	268	ENSP00000333657:V268L	ENSP00000333657:V268L	V	+	1	0	MX2	41684431	1.000000	0.71417	0.941000	0.38009	0.952000	0.60782	3.873000	0.56093	0.389000	0.25086	-0.157000	0.13467	GTG		0.557	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	
CELSR1	9620	broad.mit.edu	37	22	46930786	46930786	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr22:46930786G>A	ENST00000262738.3	-	1	2281	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.A761V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	761	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCTGTCACCGCCAGCACGTA	0.602																																						uc003bhw.1																			0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(2281-2283)GCG>GTG		cadherin EGF LAG seven-pass G-type receptor 1							77.0	55.0	62.0					22																	46930786		2200	4300	6500	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930786G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2282C>T	22.37:g.46930786G>A	ENSP00000262738:p.Ala761Val						p.A761V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2282	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	761			Extracellular (Potential).|Cadherin 5.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2282C>T	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.828|8.828	0.939167|0.939167	0.18281|0.18281	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.01804|.	4.63;4.63|.	4.61|4.61	3.5|3.5	0.40072|0.40072	Cadherin (4);Cadherin-like (1);|.	0.285517|.	0.25774|.	U|.	0.028388|.	T|T	0.13884|0.13884	0.0336|0.0336	N|N	0.00392|0.00392	-1.555|-1.555	0.31923|0.31923	N|N	0.613189|0.613189	B|.	0.28291|.	0.206|.	B|.	0.25884|.	0.064|.	T|T	0.05419|0.05419	-1.0886|-1.0886	10|5	0.30078|.	T|.	0.28|.	.|.	15.913|15.913	0.79485|0.79485	0.0:0.1479:0.8521:0.0|0.0:0.1479:0.8521:0.0	.|.	761|.	Q9NYQ6|.	CELR1_HUMAN|.	V|W	761|136	ENSP00000262738:A761V;ENSP00000379293:A761V|.	ENSP00000262738:A761V|.	A|R	-|-	2|1	0|2	CELSR1|CELSR1	45309450|45309450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.626000|0.626000	0.37791|0.37791	6.285000|6.285000	0.72658|0.72658	2.120000|2.120000	0.65058|0.65058	0.313000|0.313000	0.20887|0.20887	GCG|CGG		0.602	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
SHISA5	51246	broad.mit.edu	37	3	48538580	48538580	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:48538580G>A	ENST00000296444.2	-	2	559	c.223C>T	c.(223-225)Cct>Tct	p.P75S	SHISA5_ENST00000444115.1_Missense_Mutation_p.P44S|SHISA5_ENST00000443308.2_Intron|SHISA5_ENST00000442747.1_Missense_Mutation_p.P44S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	75					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						CTGGCCTCAGGCACAGCACAC	0.572																																						uc003ctp.1																			0					0						c.(223-225)CCT>TCT		scotin precursor							118.0	95.0	103.0					3																	48538580		2202	4300	6502	SO:0001583	missense	51246				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	g.chr3:48538580G>A	AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"""Shisa homologs"""	30376	protein-coding gene	gene with protein product		607290	"""shisa homolog 5 (Xenopus laevis)"""			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.223C>T	3.37:g.48538580G>A	ENSP00000296444:p.Pro75Ser					SHISA5_uc003cto.1_Missense_Mutation_p.P44S|SHISA5_uc003ctq.1_Intron|SHISA5_uc003ctr.1_Missense_Mutation_p.P44S|SHISA5_uc003cts.1_Missense_Mutation_p.P44S	p.P75S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN			2	357	-			75			Extracellular (Potential).		B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Missense_Mutation	SNP	ENST00000296444.2	37	c.223C>T	CCDS2770.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171621	0.57584	.	.	ENSG00000164054	ENST00000296444;ENST00000444115;ENST00000442747;ENST00000417841	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.02	-1.34	0.09143	.	1.031570	0.07710	N	0.941887	T	0.31734	0.0806	L	0.51422	1.61	0.09310	N	1	B	0.17268	0.021	B	0.20767	0.031	T	0.29610	-1.0006	10	0.25106	T	0.35	-24.5683	3.706	0.08401	0.2011:0.0:0.3026:0.4962	.	75	Q8N114	SHSA5_HUMAN	S	75;44;44;44	ENSP00000296444:P75S;ENSP00000407957:P44S;ENSP00000408223:P44S;ENSP00000412509:P44S	ENSP00000296444:P75S	P	-	1	0	SHISA5	48513584	0.000000	0.05858	0.000000	0.03702	0.973000	0.67179	-0.092000	0.11129	-0.283000	0.09115	0.650000	0.86243	CCT		0.572	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3	NM_016479	
ERC2	26059	broad.mit.edu	37	3	56468977	56468977	+	Missense_Mutation	SNP	C	C	T	rs200184138		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:56468977C>T	ENST00000288221.6	-	2	314	c.59G>A	c.(58-60)cGt>cAt	p.R20H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	20						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.R20H(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		17910	0.001		0.0	False		,,,				2504	0.0					uc003dhr.1																			2	Substitution - Missense(2)		breast(2)	ovary(2)	2						c.(58-60)CGT>CAT		cytomatrix protein p110		C	HIS/ARG	1,3825		0,1,1912	98.0	94.0	95.0		59	5.5	1.0	3		95	1,8245		0,1,4122	no	missense	ERC2	NM_015576.1	29	0,2,6034	TT,TC,CC		0.0121,0.0261,0.0166	probably-damaging	20/958	56468977	2,12070	1913	4123	6036	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468977C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.59G>A	3.37:g.56468977C>T	ENSP00000288221:p.Arg20His						p.R20H	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	315	-			20					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.59G>A	CCDS46851.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	28.8	4.954224	0.92726	2.61E-4	1.21E-4	ENSG00000187672	ENST00000288221	T	0.57273	0.41	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.70208	-0.4935	10	0.87932	D	0	-13.9449	19.6793	0.95956	0.0:1.0:0.0:0.0	.	20	O15083	ERC2_HUMAN	H	20	ENSP00000288221:R20H	ENSP00000288221:R20H	R	-	2	0	ERC2	56444017	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.744000	0.85034	2.713000	0.92767	0.655000	0.94253	CGT		0.468	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
FAM19A1	407738	broad.mit.edu	37	3	68055847	68055847	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:68055847C>T	ENST00000478136.1	+	2	568	c.78C>T	c.(76-78)tcC>tcT	p.S26S	FAM19A1_ENST00000496687.1_Silent_p.S26S	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	26						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCATGGATCCCTTCAGCACA	0.502																																						uc003dnd.2																			0				ovary(1)	1						c.(76-78)TCC>TCT		family with sequence similarity 19 (chemokine							215.0	209.0	211.0					3																	68055847		2105	4237	6342	SO:0001819	synonymous_variant	407738					endoplasmic reticulum|extracellular region		g.chr3:68055847C>T	AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.78C>T	3.37:g.68055847C>T						FAM19A1_uc003dne.2_Silent_p.S26S|FAM19A1_uc003dng.2_Silent_p.S26S|FAM19A1_uc003dnf.1_RNA	p.S26S	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)	2	294	+		Lung NSC(201;0.0117)	26					A8K0V3|Q8TCL8	Silent	SNP	ENST00000478136.1	37	c.78C>T	CCDS54606.1																																																																																				0.502	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1	NM_213609	
CNTN3	5067	broad.mit.edu	37	3	74316462	74316462	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:74316462C>A	ENST00000263665.6	-	20	2799	c.2772G>T	c.(2770-2772)gaG>gaT	p.E924D	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	924	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTAACTTGCTCCCAATTAA	0.358																																						uc003dpm.1																			0				breast(3)|ovary(1)|skin(1)	5						c.(2770-2772)GAG>GAT		contactin 3 precursor							165.0	161.0	162.0					3																	74316462		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74316462C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2772G>T	3.37:g.74316462C>A	ENSP00000263665:p.Glu924Asp						p.E924D	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	20	2852	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	924			Fibronectin type-III 4.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2772G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558520	0.03967	.	.	ENSG00000113805	ENST00000263665	T	0.44482	0.92	5.32	-6.98	0.01611	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052608	0.85682	D	0.000000	T	0.18759	0.0450	N	0.24115	0.695	0.30869	N	0.732691	B	0.02656	0.0	B	0.09377	0.004	T	0.43343	-0.9397	10	0.02654	T	1	.	13.1612	0.59544	0.0:0.2581:0.0818:0.66	.	924	Q9P232	CNTN3_HUMAN	D	924	ENSP00000263665:E924D	ENSP00000263665:E924D	E	-	3	2	CNTN3	74399152	0.000000	0.05858	0.824000	0.32777	0.987000	0.75469	-3.300000	0.00521	-1.405000	0.02048	-0.768000	0.03414	GAG		0.358	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
ARL13B	200894	broad.mit.edu	37	3	93761891	93761891	+	Missense_Mutation	SNP	C	C	A	rs139997243	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:93761891C>A	ENST00000394222.3	+	7	1106	c.831C>A	c.(829-831)aaC>aaA	p.N277K	ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000303097.7_Missense_Mutation_p.N170K|ARL13B_ENST00000535334.1_Missense_Mutation_p.N174K|ARL13B_ENST00000471138.1_Missense_Mutation_p.N277K	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	277					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AGAAAAAAAACCAAAAAATGG	0.333													G|||	7	0.00139776	0.0008	0.0	5008	,	,		15248	0.003		0.002	False		,,,				2504	0.001					uc003drc.2																			0					0						c.(829-831)AAC>AAA		ADP-ribosylation factor-like 2-like 1 isoform 1		G	LYS/ASN,LYS/ASN,LYS/ASN,LYS/ASN	2,4400		1,0,2200	47.0	48.0	48.0		831,522,510,831	2.4	0.8	3	dbSNP_134	48	0,8594		0,0,4297	yes	missense,missense,missense,missense	ARL13B	NM_001174150.1,NM_001174151.1,NM_144996.3,NM_182896.2	94,94,94,94	1,0,6497	AA,AC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign	277/429,174/326,170/322,277/429	93761891	2,12994	2201	4297	6498	SO:0001583	missense	200894						GTP binding	g.chr3:93761891C>A	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.831C>A	3.37:g.93761891C>A	ENSP00000377769:p.Asn277Lys					ARL13B_uc010hop.2_Missense_Mutation_p.N128K|ARL13B_uc003drd.2_Missense_Mutation_p.N170K|ARL13B_uc003dre.2_Missense_Mutation_p.N262K|ARL13B_uc003drf.2_Missense_Mutation_p.N277K|ARL13B_uc003drg.2_Missense_Mutation_p.N174K	p.N277K	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			7	1117	+			277					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.831C>A	CCDS2925.1	3	0.0013736263736263737	0	0.0	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	G	0.001	-3.453603	0.00012	4.54E-4	0.0	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138	T;T;T;T	0.60797	1.98;0.16;0.35;0.35	5.2	2.44	0.29823	.	0.484213	0.22744	N	0.056172	T	0.15825	0.0381	N	0.00368	-1.59	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.28996	-1.0026	10	0.02654	T	1	-0.3572	5.8503	0.18689	0.2288:0.1383:0.6329:0.0	.	174;277;170;277	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	K	174;170;277;277	ENSP00000445145:N174K;ENSP00000306225:N170K;ENSP00000377769:N277K;ENSP00000420780:N277K	ENSP00000306225:N170K	N	+	3	2	ARL13B	95244581	0.996000	0.38824	0.849000	0.33467	0.196000	0.23810	0.190000	0.17057	0.053000	0.16036	-0.215000	0.12644	AAC		0.333	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896	
LEPREL1	55214	broad.mit.edu	37	3	189700930	189700930	+	Splice_Site	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:189700930C>T	ENST00000319332.5	-	8	1427		c.e8-1		LEPREL1_ENST00000427335.2_Splice_Site	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1						collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGAAGGGACCCTGCCCATTCA	0.393																																						uc011bsk.1																			0				breast(3)|ovary(1)	4						c.e8-1		leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						138.0	134.0	136.0					3																	189700930		2203	4300	6503	SO:0001630	splice_region_variant	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189700930C>T		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1230-1G>A	3.37:g.189700930C>T						LEPREL1_uc003fsg.2_Splice_Site_p.R229_splice	p.R410_splice	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	8	1618	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)							B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Splice_Site	SNP	ENST00000319332.5	37	c.1230_splice	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605505	0.66445	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7955	0.88568	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LEPREL1	191183624	0.998000	0.40836	0.986000	0.45419	0.906000	0.53458	4.689000	0.61723	2.622000	0.88805	0.637000	0.83480	.		0.393	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	Intron
WDR1	9948	broad.mit.edu	37	4	10086069	10086070	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:10086069_10086070insT	ENST00000499869.2	-	9	1229_1230	c.1036_1037insA	c.(1036-1038)attfs	p.I346fs	WDR1_ENST00000382451.2_Frame_Shift_Ins_p.I206fs|WDR1_ENST00000382452.2_Frame_Shift_Ins_p.I346fs|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Frame_Shift_Ins_p.I206fs			O75083	WDR1_HUMAN	WD repeat domain 1	346					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AAGGATATTAATGTGTCCGTCG	0.55																																						uc003gmf.2																			0				ovary(2)|pancreas(1)	3						c.(1036-1038)ATTfs		WD repeat-containing protein 1 isoform 1																																				SO:0001589	frameshift_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10086069_10086070insT	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1037dupA	4.37:g.10086070_10086070dupT	ENSP00000427687:p.Ile346fs					WDR1_uc003gmg.2_Frame_Shift_Ins_p.I206fs|WDR1_uc003gmh.1_RNA|WDR1_uc011bwu.1_Frame_Shift_Ins_p.I181fs|WDR1_uc010idm.2_5'Flank	p.I346fs	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	9	1319_1320	-			346			WD 6.		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Frame_Shift_Ins	INS	ENST00000499869.2	37	c.1036_1037insA	CCDS54740.1																																																																																				0.550	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1		
FRYL	285527	broad.mit.edu	37	4	48622786	48622786	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:48622786A>C	ENST00000503238.1	-	3	183	c.184T>G	c.(184-186)Tct>Gct	p.S62A	FRYL_ENST00000358350.4_Missense_Mutation_p.S62A|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.S62A|FRYL_ENST00000537810.1_Missense_Mutation_p.S62A			O94915	FRYL_HUMAN	FRY-like	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					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						GAGCTCATAGAGCTTATCAAC	0.363																																						uc003gyh.1																			0				skin(1)	1						c.(184-186)TCT>GCT		furry-like							108.0	101.0	103.0					4																	48622786		1876	4103	5979	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48622786A>C	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.184T>G	4.37:g.48622786A>C	ENSP00000426064:p.Ser62Ala					FRYL_uc003gyk.2_Missense_Mutation_p.S62A|FRYL_uc003gyl.1_Missense_Mutation_p.S113A|FRYL_uc003gym.1_Missense_Mutation_p.S62A	p.S62A	NM_015030	NP_055845	O94915	FRYL_HUMAN			6	789	-			62					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.184T>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239568	0.79800	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000505759	T;T;T;T	0.61274	0.12;0.12;0.12;0.78	5.91	5.91	0.95273	.	0.000000	0.64402	U	0.000002	T	0.48205	0.1487	N	0.11673	0.155	0.80722	D	1	D;P;B	0.59357	0.985;0.841;0.415	P;P;B	0.53593	0.73;0.661;0.133	T	0.44128	-0.9348	10	0.07813	T	0.8	.	16.3432	0.83101	1.0:0.0:0.0:0.0	.	113;62;62	Q6ZNE6;F2Z2S2;O94915	.;.;FRYL_HUMAN	A	62;62;62;62;154	ENSP00000426064:S62A;ENSP00000351113:S62A;ENSP00000441114:S62A;ENSP00000421584:S62A	ENSP00000351113:S62A	S	-	1	0	FRYL	48317543	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.356000	0.79445	2.263000	0.75096	0.377000	0.23210	TCT		0.363	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
SFRP2	6423	broad.mit.edu	37	4	154702675	154702675	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:154702675C>T	ENST00000274063.4	-	3	1100	c.816G>A	c.(814-816)tcG>tcA	p.S272S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	272	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|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)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S272S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				ACCGCTTCACCGAGGTGATCA	0.592																																						uc003inv.1																			1	Substitution - coding silent(1)	p.S272S(1)	ovary(1)	ovary(1)|central_nervous_system(1)	2						c.(814-816)TCG>TCA		secreted frizzled-related protein 2 precursor							133.0	101.0	111.0					4																	154702675		2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154702675C>T	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.816G>A	4.37:g.154702675C>T							p.S272S	NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN			3	1057	-	all_hematologic(180;0.093)	Renal(120;0.117)	272			NTR.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.816G>A	CCDS34082.1																																																																																				0.592	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1		
VCAN	1462	broad.mit.edu	37	5	82815367	82815367	+	Silent	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr5:82815367T>C	ENST00000265077.3	+	7	1807	c.1242T>C	c.(1240-1242)gcT>gcC	p.A414A	VCAN_ENST00000342785.4_Silent_p.A414A|VCAN_ENST00000512590.2_Silent_p.A366A|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	414	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|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)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AACCTCAGGCTATCACAGATA	0.463																																						uc003kii.3																			0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(1240-1242)GCT>GCC		versican isoform 1 precursor							101.0	101.0	101.0					5																	82815367		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815367T>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1242T>C	5.37:g.82815367T>C						VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.A414A|VCAN_uc003kik.3_Intron	p.A414A	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1598	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	414			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1242T>C	CCDS4060.1																																																																																				0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
TRIM7	81786	broad.mit.edu	37	5	180622296	180622296	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr5:180622296A>G	ENST00000274773.7	-	7	1467	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	TRIM7_ENST00000422067.2_Missense_Mutation_p.V261A|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.V287A|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Missense_Mutation_p.V261A|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000393315.1_Missense_Mutation_p.V261A	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	469	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CACGGCTCCCACCTCCAGGTC	0.672																																					Esophageal Squamous(128;2258 2308 35507 48647)	uc003mmz.1																			0				ovary(2)|skin(1)	3						c.(1405-1407)GTG>GCG		tripartite motif-containing 7 isoform 1							41.0	26.0	31.0					5																	180622296		2194	4298	6492	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622296A>G	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1406T>C	5.37:g.180622296A>G	ENSP00000274773:p.Val469Ala					TRIM7_uc003mmv.1_Missense_Mutation_p.V287A|TRIM7_uc003mmw.1_Missense_Mutation_p.V261A|TRIM7_uc003mmx.1_Missense_Mutation_p.V261A|TRIM7_uc003mmy.1_Missense_Mutation_p.V261A	p.V469A	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1473	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	469			B30.2/SPRY.		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.1406T>C	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	A	3.580	-0.085764	0.07097	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.07	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.257885	0.26959	N	0.021624	T	0.17066	0.0410	N	0.00073	-2.26	0.26685	N	0.971465	B;B	0.12013	0.005;0.001	B;B	0.08055	0.003;0.003	T	0.44528	-0.9322	10	0.02654	T	1	.	2.2632	0.04072	0.6044:0.0:0.1513:0.2443	.	469;287	Q9C029;Q9C029-4	TRIM7_HUMAN;.	A	469;261;261;287;261	ENSP00000274773:V469A;ENSP00000376991:V261A;ENSP00000355059:V261A;ENSP00000376994:V287A;ENSP00000391458:V261A	ENSP00000274773:V469A	V	-	2	0	TRIM7	180554902	0.000000	0.05858	1.000000	0.80357	0.916000	0.54674	-0.049000	0.11924	1.904000	0.55121	0.391000	0.25812	GTG		0.672	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296	
ANKS1A	23294	broad.mit.edu	37	6	34935028	34935028	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:34935028G>A	ENST00000360359.3	+	2	348	c.210G>A	c.(208-210)ggG>ggA	p.G70G	ANKS1A_ENST00000535627.1_Silent_p.G70G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	70					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGTGGAGAGGGCCAAATGTGA	0.423																																						uc003ojx.3																			0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(208-210)GGG>GGA		ankyrin repeat and sterile alpha motif domain							212.0	186.0	195.0					6																	34935028		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34935028G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.210G>A	6.37:g.34935028G>A						ANKS1A_uc011dss.1_Silent_p.G70G|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_5'Flank	p.G70G	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			2	352	+			70					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.210G>A	CCDS4798.1																																																																																				0.423	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478	
GLP1R	2740	broad.mit.edu	37	6	39033981	39033981	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:39033981G>A	ENST00000373256.4	+	5	454	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	137				P -> R (in Ref. 4; no nucleotide entry). {ECO:0000305}.|SP -> WG (in Ref. 1; AAA03614). {ECO:0000305}.	activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	AGAGCTCCCCGGAGGAGCAGC	0.597																																						uc003ooj.3																			0				lung(3)|breast(1)|pancreas(1)	5						c.(409-411)CCG>CCA		glucagon-like peptide 1 receptor precursor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						126.0	93.0	104.0					6																	39033981		2203	4300	6503	SO:0001819	synonymous_variant	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39033981G>A		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.411G>A	6.37:g.39033981G>A						GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	p.P137P	NM_002062	NP_002053	P43220	GLP1R_HUMAN			5	471	+			137	P -> R (in Ref. 4; no nucleotide entry).|SP -> WG (in Ref. 1; AAA03614).		Extracellular (Potential).		Q2M229|Q99669	Silent	SNP	ENST00000373256.4	37	c.411G>A	CCDS4839.1																																																																																				0.597	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		
RNF217	154214	broad.mit.edu	37	6	125379096	125379096	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:125379096C>T	ENST00000521654.2	+	3	1125	c.1125C>T	c.(1123-1125)tgC>tgT	p.C375C	RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000359704.2_Silent_p.C83C|RNF217_ENST00000560949.1_Silent_p.C140C|RNF217_ENST00000275184.6_Silent_p.C19C			Q8TC41	RN217_HUMAN	ring finger protein 217	375					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGATCCAGTGCCCTACCTGCC	0.388																																						uc003pzs.2																			0					0						c.(247-249)TGC>TGT		ring finger protein 217							120.0	115.0	117.0					6																	125379096		2203	4300	6503	SO:0001819	synonymous_variant	154214				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr6:125379096C>T	BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"""RING-type (C3HC4) zinc fingers"""	21487	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 172"", ""IBR domain containing 1"""	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1125C>T	6.37:g.125379096C>T						RNF217_uc003pzr.2_Silent_p.C140C|RNF217_uc003pzt.2_RNA	p.C83C	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)	5	587	+			83			IBR-type.		H7C5V4|Q5TCA4|Q9BX48	Silent	SNP	ENST00000521654.2	37	c.249C>T																																																																																					0.388	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553	
HECA	51696	broad.mit.edu	37	6	139495543	139495543	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:139495543C>T	ENST00000367658.2	+	3	1619	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	445					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CATCTGTATGCCGTGTGCGTG	0.502																																						uc003qin.2																			0					0						c.(1333-1335)GCC>GTC		headcase							165.0	146.0	152.0					6																	139495543		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139495543C>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1334C>T	6.37:g.139495543C>T	ENSP00000356630:p.Ala445Val						p.A445V	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	3	1619	+			445						Missense_Mutation	SNP	ENST00000367658.2	37	c.1334C>T	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168675	0.94768	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.75602	-0.3261	9	0.72032	D	0.01	.	20.0544	0.97645	0.0:1.0:0.0:0.0	.	445	Q9UBI9	HDC_HUMAN	V	445	.	ENSP00000356630:A445V	A	+	2	0	HECA	139537236	1.000000	0.71417	0.505000	0.27651	0.815000	0.46073	7.487000	0.81328	2.746000	0.94184	0.591000	0.81541	GCC		0.502	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217	
SEPT14	346288	broad.mit.edu	37	7	55874801	55874801	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:55874801G>C	ENST00000388975.3	-	8	1084	c.968C>G	c.(967-969)cCa>cGa	p.P323R		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	323					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTTGTTTGGACCCACATC	0.368																																						uc003tqz.2																			0					0						c.(967-969)CCA>CGA		septin 14							109.0	101.0	104.0					7																	55874801		2203	4300	6503	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874801G>C	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.968C>G	7.37:g.55874801G>C	ENSP00000373627:p.Pro323Arg						p.P323R	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1085	-	Breast(14;0.214)		323					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.968C>G	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073553	0.55646	.	.	ENSG00000154997	ENST00000388975	D	0.82081	-1.57	3.24	3.24	0.37175	.	0.099661	0.43110	D	0.000604	D	0.87645	0.6229	M	0.62723	1.935	0.45439	D	0.998416	D	0.71674	0.998	D	0.67382	0.951	D	0.86841	0.2017	10	0.40728	T	0.16	.	12.756	0.57335	0.0:0.0:1.0:0.0	.	323	Q6ZU15	SEP14_HUMAN	R	323	ENSP00000373627:P323R	ENSP00000373627:P323R	P	-	2	0	SEPT14	55842295	1.000000	0.71417	0.711000	0.30485	0.903000	0.53119	7.492000	0.81482	2.116000	0.64780	0.557000	0.71058	CCA		0.368	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	
TRIM4	89122	broad.mit.edu	37	7	99507253	99507253	+	Missense_Mutation	SNP	C	C	T	rs373018289		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:99507253C>T	ENST00000355947.2	-	3	631	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	TRIM4_ENST00000349062.2_Missense_Mutation_p.V142M|TRIM4_ENST00000354241.5_Missense_Mutation_p.V142M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	168					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ATCTTGGCCACGAGATTACGC	0.418																																						uc003usd.2																			0				ovary(1)|kidney(1)	2						c.(502-504)GTG>ATG		tripartite motif protein TRIM4 isoform alpha		C	MET/VAL,MET/VAL	0,4406		0,0,2203	205.0	165.0	179.0		424,502	-3.0	0.0	7		179	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TRIM4	NM_033091.2,NM_033017.3	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	142/475,168/501	99507253	1,13005	2203	4300	6503	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99507253C>T	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.502G>A	7.37:g.99507253C>T	ENSP00000348216:p.Val168Met					TRIM4_uc003use.2_Missense_Mutation_p.V142M|TRIM4_uc011kjc.1_Translation_Start_Site|TRIM4_uc003usf.2_Missense_Mutation_p.V142M	p.V168M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN			3	632	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	168					A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.502G>A	CCDS5679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.173|7.173	0.588017|0.588017	0.13812|0.13812	0.0|0.0	1.16E-4|1.16E-4	ENSG00000146833|ENSG00000146833	ENST00000447480|ENST00000355947;ENST00000349062;ENST00000354241	.|T;T;T	.|0.68479	.|-0.22;-0.18;-0.33	2.55|2.55	-3.03|-3.03	0.05429|0.05429	.|.	.|.	.|.	.|.	.|.	T|T	0.31040|0.31040	0.0784|0.0784	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.17465	.|0.022;0.021;0.012	.|B;B;B	.|0.19946	.|0.027;0.003;0.001	T|T	0.15665|0.15665	-1.0429|-1.0429	5|9	.|0.44086	.|T	.|0.13	.|.	3.4531|3.4531	0.07506|0.07506	0.2092:0.4412:0.0:0.3496|0.2092:0.4412:0.0:0.3496	.|.	.|142;142;168	.|Q9C037-3;Q9C037-2;Q9C037	.|.;.;TRIM4_HUMAN	H|M	43|168;142;142	.|ENSP00000348216:V168M;ENSP00000275736:V142M;ENSP00000346186:V142M	.|ENSP00000275736:V142M	R|V	-|-	2|1	0|0	TRIM4|TRIM4	99345189|99345189	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.136000|-0.136000	0.10405|0.10405	-0.738000|-0.738000	0.04817|0.04817	-0.484000|-0.484000	0.04775|0.04775	CGT|GTG		0.418	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017	
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																						uc003vbh.3																			0					0						c.(1048-1050)TGT>CGT		RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2;																																						349152							g.chr7:102825947A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825947A>G						DPY19L2P2_uc003vbg.3_RNA|DPY19L2P2_uc010lit.2_RNA	p.C350R	NR_003561						20	3239	-								Q8N9V4|Q8ND62	Missense_Mutation	SNP	ENST00000312132.4	37	c.1048T>C																																																																																					0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634	
ATP6V0A4	50617	broad.mit.edu	37	7	138447096	138447096	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:138447096G>A	ENST00000310018.2	-	7	783	c.501C>T	c.(499-501)acC>acT	p.T167T	ATP6V0A4_ENST00000393054.1_Silent_p.T167T|ATP6V0A4_ENST00000353492.4_Silent_p.T167T|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	167					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAACTTTCCGGTCATATATG	0.458																																						uc003vuf.2																			0				pancreas(1)	1						c.(499-501)ACC>ACT		ATPase, H+ transporting, lysosomal V0 subunit							128.0	115.0	120.0					7																	138447096		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138447096G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.501C>T	7.37:g.138447096G>A						ATP6V0A4_uc003vug.2_Silent_p.T167T|ATP6V0A4_uc003vuh.2_Silent_p.T167T	p.T167T	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			6	739	-			167			Cytoplasmic (Potential).		A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.501C>T	CCDS5849.1																																																																																				0.458	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
SGK223	157285	broad.mit.edu	37	8	8239066	8239066	+	Silent	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:8239066A>G	ENST00000520004.1	-	2	456	c.192T>C	c.(190-192)ccT>ccC	p.P64P	SGK223_ENST00000330777.4_Silent_p.P64P			Q86YV5	SG223_HUMAN		64							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGCAGTTCTCAGGCCTGGGAG	0.652																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3																			0					0						c.(190-192)CCT>CCC		pragmin							51.0	51.0	51.0					8																	8239066		2005	4158	6163	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8239066A>G																												ENST00000520004.1:c.192T>C	8.37:g.8239066A>G							p.P64P	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			1	192	-			64					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.192T>C	CCDS43706.1																																																																																				0.652	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
VCPIP1	80124	broad.mit.edu	37	8	67546807	67546807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:67546807C>A	ENST00000310421.4	-	3	3856	c.3598G>T	c.(3598-3600)Gag>Tag	p.E1200*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1200					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCAAGCTCCTCCACGGAATTT	0.428																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			0				lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(3598-3600)GAG>TAG		valosin containing protein (p97)/p47 complex							187.0	156.0	167.0					8																	67546807		2203	4300	6503	SO:0001587	stop_gained	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67546807C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3598G>T	8.37:g.67546807C>A	ENSP00000309031:p.Glu1200*						p.E1200*	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		3	3857	-		Lung NSC(129;0.142)|all_lung(136;0.227)	1200					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	37	c.3598G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	42	9.226118	0.99106	.	.	ENSG00000175073	ENST00000310421	.	.	.	5.59	5.59	0.84812	.	0.064498	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6145	19.58	0.95464	0.0:1.0:0.0:0.0	.	.	.	.	X	1200	.	ENSP00000309031:E1200X	E	-	1	0	VCPIP1	67709361	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.981000	0.76166	2.625000	0.88918	0.591000	0.81541	GAG		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1		
SLC25A32	81034	broad.mit.edu	37	8	104412724	104412724	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:104412724C>G	ENST00000297578.4	-	7	1029	c.863G>C	c.(862-864)aGa>aCa	p.R288T	SLC25A32_ENST00000543107.1_Missense_Mutation_p.R156T|SLC25A32_ENST00000523701.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	288					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TGGAGTCACTCTAATCAAATT	0.368																																						uc003yll.2																			0				ovary(1)	1						c.(862-864)AGA>ACA		solute carrier family 25, member 32	Folic Acid(DB00158)						121.0	126.0	125.0					8																	104412724		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104412724C>G	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.863G>C	8.37:g.104412724C>G	ENSP00000297578:p.Arg288Thr					SLC25A32_uc011lhr.1_Missense_Mutation_p.R156T	p.R288T	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		7	1166	-			288			Solcar 3.|Helical; Name=6; (Potential).		Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.863G>C	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106948	0.77096	.	.	ENSG00000164933	ENST00000297578;ENST00000424899;ENST00000543107	D;D	0.81739	-1.53;-1.53	5.66	3.82	0.43975	Mitochondrial carrier domain (2);	0.045131	0.85682	D	0.000000	D	0.87724	0.6249	M	0.90198	3.095	0.80722	D	1	P	0.37441	0.595	P	0.48738	0.588	D	0.89155	0.3526	10	0.72032	D	0.01	-15.7796	11.5239	0.50569	0.0:0.8073:0.1249:0.0678	.	288	Q9H2D1	MFTC_HUMAN	T	288;272;156	ENSP00000297578:R288T;ENSP00000443497:R156T	ENSP00000297578:R288T	R	-	2	0	SLC25A32	104481900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.579000	0.60936	1.403000	0.46800	0.655000	0.94253	AGA		0.368	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780	
RECK	8434	broad.mit.edu	37	9	36060144	36060144	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:36060144C>G	ENST00000377966.3	+	4	829	c.263C>G	c.(262-264)tCt>tGt	p.S88C	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	88	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGAATTCATCTTTGCCAGGT	0.299																																						uc003zyv.2																			0				skin(2)|ovary(1)	3						c.(262-264)TCT>TGT		RECK protein precursor							116.0	124.0	121.0					9																	36060144		2203	4299	6502	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36060144C>G	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.263C>G	9.37:g.36060144C>G	ENSP00000367202:p.Ser88Cys					RECK_uc010mld.2_Missense_Mutation_p.S88C|RECK_uc003zyu.3_Missense_Mutation_p.S88C|RECK_uc003zyw.2_Translation_Start_Site|RECK_uc010mle.1_Intron|RECK_uc003zyx.2_RNA	p.S88C	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		4	349	+			88			5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.263C>G	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415378	0.83449	.	.	ENSG00000122707	ENST00000377966	T	0.48522	0.81	5.78	5.78	0.91487	.	0.062472	0.64402	D	0.000003	T	0.54224	0.1845	N	0.14661	0.345	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.79108	0.99;0.981;0.992	T	0.60167	-0.7316	10	0.87932	D	0	-22.4448	17.8645	0.88792	0.0:1.0:0.0:0.0	.	88;88;88	B2RCE6;O95980;Q6P9E2	.;RECK_HUMAN;.	C	88	ENSP00000367202:S88C	ENSP00000367202:S88C	S	+	2	0	RECK	36050144	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.202000	0.65169	2.894000	0.99253	0.591000	0.81541	TCT		0.299	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1		
TMEM2	23670	broad.mit.edu	37	9	74345061	74345061	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:74345061C>T	ENST00000377044.4	-	9	2421	c.1882G>A	c.(1882-1884)Ggt>Agt	p.G628S	TMEM2_ENST00000377066.5_Missense_Mutation_p.G565S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	628					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAGAGTACCCGGCTTGGTG	0.458																																						uc011lsa.1																			0				ovary(2)	2						c.(1882-1884)GGT>AGT		transmembrane protein 2 isoform a							141.0	127.0	132.0					9																	74345061		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74345061C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1882G>A	9.37:g.74345061C>T	ENSP00000366243:p.Gly628Ser					TMEM2_uc010mos.2_Missense_Mutation_p.G565S|TMEM2_uc011lsb.1_RNA	p.G628S	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	9	2422	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	628					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1882G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504750	0.96371	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.88664	-2.41;-2.41	5.63	5.63	0.86233	Pectin lyase fold/virulence factor (1);	0.046617	0.85682	D	0.000000	D	0.92257	0.7544	L	0.52126	1.63	0.80722	D	1	P;D	0.69078	0.942;0.997	P;D	0.67231	0.749;0.95	D	0.89198	0.3555	10	0.20519	T	0.43	.	19.6697	0.95907	0.0:1.0:0.0:0.0	.	628;565	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	S	628;565	ENSP00000366243:G628S;ENSP00000366266:G565S	ENSP00000366243:G628S	G	-	1	0	TMEM2	73534881	1.000000	0.71417	0.936000	0.37596	0.916000	0.54674	5.672000	0.68102	2.649000	0.89929	0.585000	0.79938	GGT		0.458	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
WNK2	65268	broad.mit.edu	37	9	96030055	96030055	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:96030055G>A	ENST00000297954.4	+	16	3724	c.3724G>A	c.(3724-3726)Gag>Aag	p.E1242K	WNK2_ENST00000395477.2_Missense_Mutation_p.E1242K|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.E854K|WNK2_ENST00000349097.3_Missense_Mutation_p.E854K|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1242					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGCAGGCCGAGCGGGAAAC	0.577																																						uc004ati.1																			0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(3724-3726)GAG>AAG		WNK lysine deficient protein kinase 2							46.0	35.0	39.0					9																	96030055		2203	4299	6502	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96030055G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3724G>A	9.37:g.96030055G>A	ENSP00000297954:p.Glu1242Lys					WNK2_uc011lud.1_Missense_Mutation_p.E1242K|WNK2_uc004atj.2_Missense_Mutation_p.E1242K|WNK2_uc004atk.2_Missense_Mutation_p.E879K	p.E1242K	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			16	3724	+			1242					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.3724G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.035713|6.035713	0.97221|0.97221	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	T;T;T;T|.	0.35236|.	1.32;1.32;1.32;1.32|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81936|0.81936	0.4928|0.4928	M|M	0.80332|0.80332	2.49|2.49	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|.	0.87578|.	0.994;0.996;0.998;0.981|.	T|T	0.81417|0.81417	-0.0942|-0.0942	10|5	0.72032|.	D|.	0.01|.	.|.	20.0149|20.0149	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1242;845;1242;1242|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	K|Q	1242;1242;854;854|845	ENSP00000297954:E1242K;ENSP00000378860:E1242K;ENSP00000297876:E854K;ENSP00000411181:E854K|.	ENSP00000297954:E1242K|.	E|R	+|+	1|2	0|0	WNK2|WNK2	95069876|95069876	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.991000|0.991000	0.79684|0.79684	9.676000|9.676000	0.98643|0.98643	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.577	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
NANS	54187	broad.mit.edu	37	9	100823174	100823174	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:100823174C>T	ENST00000210444.5	+	2	313	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	81					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GGAAGACGTACGGGGAGCACA	0.527																																						uc004ayb.2																			0				skin(1)	1						c.(241-243)TAC>TAT		N-acetylneuraminic acid phosphate synthase							217.0	203.0	208.0					9																	100823174		2203	4300	6503	SO:0001819	synonymous_variant	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100823174C>T	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.243C>T	9.37:g.100823174C>T						NANS_uc004ayc.2_Silent_p.Y81Y	p.Y81Y	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN			3	885	+		Acute lymphoblastic leukemia(62;0.0559)	81					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Silent	SNP	ENST00000210444.5	37	c.243C>T	CCDS6733.1																																																																																				0.527	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946	
SVEP1	79987	broad.mit.edu	37	9	113173811	113173811	+	Silent	SNP	G	G	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:113173811G>T	ENST00000401783.2	-	37	6516	c.6180C>A	c.(6178-6180)ctC>ctA	p.L2060L	SVEP1_ENST00000374469.1_Silent_p.L2037L|SVEP1_ENST00000297826.5_De_novo_Start_OutOfFrame	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2060	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGCATTGCAGAGAAGCTGGG	0.512																																						uc010mtz.2																			0				ovary(7)	7						c.(6178-6180)CTC>CTA		polydom							45.0	46.0	46.0					9																	113173811		1934	4128	6062	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173811G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6180C>A	9.37:g.113173811G>T						SVEP1_uc010mty.2_Translation_Start_Site	p.L2060L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			37	6517	-			2060			Sushi 11.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.6180C>A	CCDS48004.1																																																																																				0.512	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
MXRA5	25878	broad.mit.edu	37	X	3228536	3228536	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:3228536G>T	ENST00000217939.6	-	7	7862	c.7708C>A	c.(7708-7710)Ccg>Acg	p.P2570T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2570	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGGTGTCGGGGTCCCCGCG	0.622																																						uc004crg.3																			0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(7708-7710)CCG>ACG		adlican precursor							24.0	24.0	24.0					X																	3228536		2201	4298	6499	SO:0001583	missense	25878					extracellular region		g.chrX:3228536G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7708C>A	X.37:g.3228536G>T	ENSP00000217939:p.Pro2570Thr						p.P2570T	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	7865	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2570			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7708C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598810	0.28445	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	D	0.97791	-4.54	4.05	4.05	0.47172	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37857	U	0.001908	D	0.99052	0.9675	H	0.95712	3.71	0.35287	D	0.781859	D	0.76494	0.999	D	0.72625	0.978	D	0.99967	1.1888	10	0.66056	D	0.02	.	15.9085	0.79450	0.0:0.0:1.0:0.0	.	2570	Q9NR99	MXRA5_HUMAN	T	2570	ENSP00000217939:P2570T	ENSP00000217939:P2570T	P	-	1	0	MXRA5	3238536	1.000000	0.71417	0.066000	0.19879	0.006000	0.05464	3.472000	0.53114	1.650000	0.50662	0.597000	0.82753	CCG		0.622	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
WWC3	55841	broad.mit.edu	37	X	10066544	10066544	+	Splice_Site	SNP	A	A	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:10066544A>T	ENST00000380861.4	+	8	1048		c.e8-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGTTCCGGAAAGTTTGTCTTT	0.348																																						uc004csx.3																			0				ovary(4)	4						c.e8-2		WWC family member 3							68.0	64.0	65.0					X																	10066544		2203	4300	6503	SO:0001630	splice_region_variant	55841							g.chrX:10066544A>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.658-1A>T	X.37:g.10066544A>T						WWC3_uc010nds.2_Splice_Site|WWC3_uc010ndt.2_Splice_Site	p.F220_splice	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			8	856	+								A8KA96|Q659C1|Q9BTQ1	Splice_Site	SNP	ENST00000380861.4	37	c.658_splice	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355864	0.41700	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	.	.	.	5.19	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3491	0.32292	0.9095:0.0:0.0905:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWC3	10026544	1.000000	0.71417	0.986000	0.45419	0.542000	0.35054	4.769000	0.62300	1.733000	0.51620	0.339000	0.21740	.		0.348	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	Intron
IL1RAPL1	11141	broad.mit.edu	37	X	29973596	29973596	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:29973596C>G	ENST00000378993.1	+	11	2423	c.1750C>G	c.(1750-1752)Ctg>Gtg	p.L584V	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L584V	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	584	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTTTGGGGAGCTGCAGACTGT	0.507																																						uc004dby.2																			0				ovary(3)|lung(1)|pancreas(1)	5						c.(1750-1752)CTG>GTG		interleukin 1 receptor accessory protein-like 1							56.0	46.0	49.0					X																	29973596		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973596C>G	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1750C>G	X.37:g.29973596C>G	ENSP00000368278:p.Leu584Val						p.L584V	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2258	+			584			Cytoplasmic (Potential).|Interaction with NCS1.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1750C>G	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056592	0.55325	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.05025	3.51;3.51	5.25	5.25	0.73442	.	0.144833	0.48767	D	0.000163	T	0.14270	0.0345	M	0.70275	2.135	0.58432	D	0.999995	P	0.44946	0.846	P	0.45138	0.471	T	0.01757	-1.1280	9	.	.	.	.	17.953	0.89059	0.0:1.0:0.0:0.0	.	584	Q9NZN1	IRPL1_HUMAN	V	584	ENSP00000368278:L584V;ENSP00000305200:L584V	.	L	+	1	2	IL1RAPL1	29883517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.174000	0.68829	0.600000	0.82982	CTG		0.507	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
CHDC2	286464	broad.mit.edu	37	X	36103484	36103484	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:36103484C>T	ENST00000313548.4	+	5	656	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	157						integral component of membrane (GO:0016021)											CAAAAGTTTTCCAGACAGAAT	0.328																																						uc004ddk.1																			0				central_nervous_system(1)	1						c.(469-471)TCC>TTC		hypothetical protein LOC286464							85.0	84.0	84.0					X																	36103484		2202	4300	6502	SO:0001583	missense	286464					integral to membrane		g.chrX:36103484C>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.470C>T	X.37:g.36103484C>T	ENSP00000324767:p.Ser157Phe						p.S157F	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			5	656	+			157						Missense_Mutation	SNP	ENST00000313548.4	37	c.470C>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	9.882	1.201923	0.22121	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.41	-1.8	0.07907	.	1.560980	0.04056	N	0.305504	T	0.27798	0.0684	L	0.27053	0.805	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.27640	-1.0068	9	0.59425	D	0.04	1.3147	2.8663	0.05602	0.3486:0.3637:0.2001:0.0877	.	157	Q8N9S7	CX059_HUMAN	F	157	.	ENSP00000324767:S157F	S	+	2	0	CXorf59	36013405	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.667000	0.05274	-0.137000	0.11455	0.600000	0.82982	TCC		0.328	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	
TEX13A	56157	broad.mit.edu	37	X	104463874	104463874	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:104463874G>A	ENST00000413579.1	-	5	1113	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	TEX13A_ENST00000372578.3_Missense_Mutation_p.P335L|TEX13A_ENST00000372575.1_Missense_Mutation_p.P335L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	334							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCCAGTCGGAAGGCAGCT	0.537																																						uc004ema.2																			0				ovary(2)	2						c.(1000-1002)TCC>TCT		testis expressed sequence 13A							104.0	99.0	100.0					X																	104463874		2150	4248	6398	SO:0001819	synonymous_variant	56157					intracellular	zinc ion binding	g.chrX:104463874G>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1002C>T	X.37:g.104463874G>A						IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P335L	p.S334S	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			5	1114	-			334					B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37	c.1002C>T		.	.	.	.	.	.	.	.	.	.	G	9.010	0.982250	0.18889	.	.	ENSG00000133149	ENST00000372578;ENST00000372575	.	.	.	3.01	1.16	0.20824	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36744	-0.9735	5	0.87932	D	0	.	3.0504	0.06167	0.1549:0.0:0.5797:0.2653	.	.	.	.	L	335	.	ENSP00000361656:P335L	P	-	2	0	TEX13A	104350530	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	1.052000	0.30429	0.174000	0.19809	-0.776000	0.03382	CCG		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274	
TENM1	10178	broad.mit.edu	37	X	123514489	123514489	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:123514489C>A	ENST00000371130.3	-	31	8138	c.8075G>T	c.(8074-8076)gGt>gTt	p.G2692V	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.G2699V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2692					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCCATCGTAACCTTGTACCCG	0.463																																						uc004euj.2																			0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(8074-8076)GGT>GTT		odz, odd Oz/ten-m homolog 1 isoform 3							168.0	158.0	162.0					X																	123514489		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123514489C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8075G>T	X.37:g.123514489C>A	ENSP00000360171:p.Gly2692Val					ODZ1_uc011muj.1_Missense_Mutation_p.G2698V|ODZ1_uc010nqy.2_Missense_Mutation_p.G2699V	p.G2692V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			31	8139	-			2692			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.8075G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642976	0.67244	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87491	-2.26;-2.23	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	M	0.79011	2.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.982;0.995	D	0.94217	0.7464	10	0.87932	D	0	.	18.9144	0.92499	0.0:1.0:0.0:0.0	.	2698;2699;2692	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	2692;2699	ENSP00000360171:G2692V;ENSP00000403954:G2699V	ENSP00000360171:G2692V	G	-	2	0	ODZ1	123342170	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.414000	0.81942	0.538000	0.68166	GGT		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
PDZD4	57595	broad.mit.edu	37	X	153069052	153069052	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:153069052C>T	ENST00000164640.4	-	8	2257	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000393758.2_Missense_Mutation_p.R614H|PDZD4_ENST00000544474.1_Missense_Mutation_p.R580H	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	689						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCTGCTCACGGGCCCGGAT	0.647																																						uc004fiz.1																			0				breast(1)	1						c.(2065-2067)CGT>CAT		PDZ domain containing 4							83.0	73.0	77.0					X																	153069052		2203	4300	6503	SO:0001583	missense	57595					cell cortex		g.chrX:153069052C>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.2066G>A	X.37:g.153069052C>T	ENSP00000164640:p.Arg689His					PDZD4_uc004fiy.1_Missense_Mutation_p.R614H|PDZD4_uc004fix.2_Missense_Mutation_p.R593H|PDZD4_uc004fja.1_Missense_Mutation_p.R695H|PDZD4_uc011mze.1_Missense_Mutation_p.R580H	p.R689H	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			8	2316	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		689					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.2066G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208495	0.39003	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.42513	0.97;0.97;0.97	5.54	3.74	0.42951	.	0.059306	0.64402	D	0.000002	T	0.60741	0.2292	M	0.76328	2.33	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.972;0.978;0.999;0.999;0.972	T	0.60469	-0.7257	10	0.87932	D	0	-23.9986	8.7052	0.34349	0.1512:0.7666:0.0:0.0822	.	580;695;689;614;593	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	H	689;614;593;580	ENSP00000164640:R689H;ENSP00000377355:R614H;ENSP00000442033:R580H	ENSP00000164640:R689H	R	-	2	0	PDZD4	152722246	0.019000	0.18553	0.008000	0.14137	0.144000	0.21451	1.662000	0.37418	0.496000	0.27904	0.436000	0.28706	CGT		0.647	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512	
