#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
PRAMEF12	390999	broad.mit.edu	37	1	12836029	12836029	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:12836029T>C	ENST00000357726.4	+	2	658	c.631T>C	c.(631-633)Tgc>Cgc	p.C211R		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	211					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGAAGTGTGCTGCCCGTG	0.517																																						uc001aui.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(631-633)Tgc>Cgc		Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.							167.0	173.0	171.0					1																	12836029		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12836029T>C		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.631T>C	1.37:g.12836029T>C	ENSP00000350358:p.Cys211Arg						p.C211R	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	658	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	211						Missense_Mutation	SNP	ENST00000357726.4	37	c.631T>C	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	5.754	0.323614	0.10900	.	.	ENSG00000116726	ENST00000357726	T	0.00840	5.63	2.8	-5.57	0.02521	.	1.371460	0.04478	N	0.377252	T	0.00815	0.0027	L	0.33189	0.99	0.09310	N	0.999999	P	0.37781	0.608	B	0.39119	0.291	T	0.42616	-0.9441	10	0.21540	T	0.41	.	0.6928	0.00894	0.2088:0.1989:0.1455:0.4467	.	211	O95522	PRA12_HUMAN	R	211	ENSP00000350358:C211R	ENSP00000350358:C211R	C	+	1	0	PRAMEF12	12758616	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.092000	0.01354	-1.236000	0.02542	0.260000	0.18958	TGC		0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760	
SGIP1	84251	broad.mit.edu	37	1	67133216	67133216	+	Missense_Mutation	SNP	C	C	T	rs556202457		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:67133216C>T	ENST00000371037.4	+	9	552	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.R163C|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Missense_Mutation_p.R116C|SGIP1_ENST00000371036.3_Intron|AL139147.1_ENST00000502413.2_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	159					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATCACAGAGGCGCAGCCCGGT	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20755	0.0		0.0	False		,,,				2504	0.0					uc001dcr.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(475-477)Cgc>Tgc		Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.							166.0	169.0	168.0					1																	67133216		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67133216C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.475C>T	1.37:g.67133216C>T	ENSP00000360076:p.Arg159Cys					SGIP1_uc010opd.2_5'UTR|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|AK298300_uc010ope.1_Intron	p.R159C	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			8	692	+			159					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.475C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616176	0.66672	.	.	ENSG00000118473	ENST00000237247;ENST00000371035;ENST00000371037	T;T;T	0.03301	3.98;3.98;3.98	6.01	6.01	0.97437	.	6.337000	0.00166	N	0.000000	T	0.10337	0.0253	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.01998	-1.1232	10	0.51188	T	0.08	14.6874	18.015	0.89236	0.0:1.0:0.0:0.0	.	159	Q9BQI5	SGIP1_HUMAN	C	163;116;159	ENSP00000237247:R163C;ENSP00000360074:R116C;ENSP00000360076:R159C	ENSP00000237247:R163C	R	+	1	0	SGIP1	66905804	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.631000	0.67812	2.861000	0.98227	0.650000	0.86243	CGC		0.418	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
GBP1	2633	broad.mit.edu	37	1	89521850	89521850	+	Missense_Mutation	SNP	C	C	T	rs140785577		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:89521850C>T	ENST00000370473.4	-	8	1436	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	406					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGCTGAGCAACGATCTGATGA	0.408													.|||	1	0.000199681	0.0	0.0	5008	,	,		19883	0.001		0.0	False		,,,				2504	0.0					uc001dmx.2																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(1216-1218)cGt>cAt		Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.		C	HIS/ARG	0,4406		0,0,2203	111.0	116.0	114.0		1217	-0.4	0.4	1	dbSNP_134	114	1,8593	1.2+/-3.3	0,1,4296	no	missense	GBP1	NM_002053.2	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	406/593	89521850	1,12999	2203	4297	6500	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89521850C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1217G>A	1.37:g.89521850C>T	ENSP00000359504:p.Arg406His						p.R406H	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	7	1437	-		Lung NSC(277;0.123)	406					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.1217G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	1.235	-0.623102	0.03636	0.0	1.16E-4	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.02121	4.44	4.8	-0.42	0.12336	Guanylate-binding protein, C-terminal (3);	0.547236	0.19886	N	0.103855	T	0.00552	0.0018	N	0.26092	0.79	0.09310	N	1	B	0.19583	0.037	B	0.17098	0.017	T	0.44952	-0.9294	10	0.20519	T	0.43	.	8.0634	0.30646	0.0:0.4479:0.0:0.5521	.	406	P32455	GBP1_HUMAN	H	406;369	ENSP00000359504:R406H	ENSP00000359504:R406H	R	-	2	0	GBP1	89294438	0.000000	0.05858	0.377000	0.26055	0.005000	0.04900	-0.983000	0.03759	0.112000	0.17975	-0.339000	0.08088	CGT		0.408	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053	
NBPF10	100132406	broad.mit.edu	37	1	145311916	145311916	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:145311916A>G	ENST00000369338.1	+	10	1355	c.1165A>G	c.(1165-1167)Ata>Gta	p.I389V	NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000342960.5_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	662						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.I389V(3)|p.Y388>?(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGCCTTTTACATATTGGAGCA	0.458																																						uc021oun.1																			4	Substitution - Missense(3)|Complex(1)	p.I389V(3)|p.Y388>?(1)	endometrium(2)|skin(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73								Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.							11.0	15.0	13.0					1																	145311916		689	1581	2270	SO:0001583	missense	100132406							g.chr1:145311916A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.1165A>G	1.37:g.145311916A>G	ENSP00000358344:p.Ile389Val					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021oul.1_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_5'UTR|NBPF10_uc010oyl.2_5'UTR|NBPF10_uc021oum.1_Intron|NBPF10_uc021ouo.1_5'Flank				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	0		+	all_hematologic(923;0.032)							Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37			.	.	.	.	.	.	.	.	.	.	.	0.001	-3.138213	0.00030	.	.	ENSG00000163386	ENST00000369338;ENST00000369364	T	0.05996	3.36	0.711	-1.42	0.08913	.	.	.	.	.	T	0.00440	0.0014	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40961	-0.9535	6	0.02654	T	1	.	2.2894	0.04135	0.4429:0.3027:0.2544:0.0	.	.	.	.	V	389;66	ENSP00000358344:I389V	ENSP00000358344:I389V	I	+	1	0	NBPF10	144023273	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.845000	0.00735	-2.313000	0.00648	-2.094000	0.00368	ATA		0.458	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703	
HRNR	388697	broad.mit.edu	37	1	152188002	152188002	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:152188002T>C	ENST00000368801.2	-	3	6178	c.6103A>G	c.(6103-6105)Agc>Ggc	p.S2035G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2035					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTGAGCTAGCTCCATGT	0.567																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6103-6105)Agc>Ggc		Homo sapiens hornerin (HRNR), mRNA.							198.0	288.0	257.0					1																	152188002		2152	4138	6290	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188002T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6103A>G	1.37:g.152188002T>C	ENSP00000357791:p.Ser2035Gly						p.S2035G	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6179	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2035					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6103A>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	T	7.476	0.647697	0.14516	.	.	ENSG00000197915	ENST00000368801	T	0.01629	4.72	4.31	-8.61	0.00885	.	.	.	.	.	T	0.00356	0.0011	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47824	-0.9087	9	0.11485	T	0.65	.	10.6506	0.45647	0.0:0.2531:0.0952:0.6518	.	2035	Q86YZ3	HORN_HUMAN	G	2035	ENSP00000357791:S2035G	ENSP00000357791:S2035G	S	-	1	0	HRNR	150454626	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.555000	0.02170	-2.372000	0.00601	-0.975000	0.02590	AGC		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
BCAN	63827	broad.mit.edu	37	1	156617796	156617796	+	Silent	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:156617796A>G	ENST00000329117.5	+	5	999	c.663A>G	c.(661-663)cgA>cgG	p.R221R	BCAN_ENST00000361588.5_Silent_p.R221R|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	221	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGACCCCACGAGAGGCCTGTT	0.532																																						uc001fpp.3																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(661-663)cgA>cgG		Homo sapiens brevican (BCAN), transcript variant 1, mRNA.							113.0	114.0	114.0					1																	156617796		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617796A>G	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.663A>G	1.37:g.156617796A>G						BCAN_uc001fpo.3_Silent_p.R221R	p.R221R	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			4	999	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		221			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.663A>G	CCDS1149.1																																																																																				0.532	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948	
PYHIN1	149628	broad.mit.edu	37	1	158914718	158914718	+	Silent	SNP	C	C	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:158914718C>A	ENST00000368140.1	+	7	1490	c.1245C>A	c.(1243-1245)ccC>ccA	p.P415P	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.P406P|PYHIN1_ENST00000392254.2_Silent_p.P415P|PYHIN1_ENST00000392252.3_Silent_p.P406P	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	415					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGGCACTACCCCAGGAACAGA	0.433																																						uc001ftb.3																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1243-1245)ccC>ccA		Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.							104.0	100.0	101.0					1																	158914718		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158914718C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1245C>A	1.37:g.158914718C>A						PYHIN1_uc001ftc.3_Silent_p.P406P|PYHIN1_uc001ftd.3_Silent_p.P415P|PYHIN1_uc001fte.3_Silent_p.P406P	p.P415P	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			6	1495	+	all_hematologic(112;0.0378)		415					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.1245C>A	CCDS1178.1																																																																																				0.433	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
OR2T6	254879	broad.mit.edu	37	1	248551593	248551593	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:248551593G>T	ENST00000355728.2	+	1	684	c.684G>T	c.(682-684)atG>atT	p.M228I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M228I(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCATCAGATGACATCGGCTG	0.502																																						uc001iei.1																			1	Substitution - Missense(1)	p.M228I(2)	lung(1)	endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(682-684)atG>atT		Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.							295.0	233.0	254.0					1																	248551593		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551593G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.684G>T	1.37:g.248551593G>T	ENSP00000347965:p.Met228Ile						p.M228I	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	684	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		228					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.684G>T	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	3.359	-0.130818	0.06753	.	.	ENSG00000198104	ENST00000355728	T	0.00021	9.03	4.02	0.734	0.18294	GPCR, rhodopsin-like superfamily (1);	0.232740	0.30879	N	0.008699	T	0.00073	0.0002	N	0.17345	0.48	0.09310	N	1	B	0.20988	0.05	B	0.26310	0.068	T	0.30475	-0.9977	10	0.54805	T	0.06	.	2.4735	0.04570	0.1707:0.2655:0.4284:0.1354	.	228	Q8NHC8	OR2T6_HUMAN	I	228	ENSP00000347965:M228I	ENSP00000347965:M228I	M	+	3	0	OR2T6	246618216	0.000000	0.05858	0.071000	0.20095	0.021000	0.10359	-1.541000	0.02198	0.438000	0.26450	0.643000	0.83706	ATG		0.502	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471	
ANO9	338440	broad.mit.edu	37	11	420522	420522	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:420522T>C	ENST00000332826.6	-	19	1811	c.1727A>G	c.(1726-1728)gAc>gGc	p.D576G		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	576					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTTGATGGCGTCCAGGCGGAT	0.687																																						uc001lpi.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1726-1728)gAc>gGc		Homo sapiens anoctamin 9 (ANO9), mRNA.							21.0	20.0	20.0					11																	420522		2199	4288	6487	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:420522T>C	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1727A>G	11.37:g.420522T>C	ENSP00000332788:p.Asp576Gly					ANO9_uc001lph.2_Missense_Mutation_p.D269G|ANO9_uc010qvv.1_Missense_Mutation_p.D432G	p.D576G	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			18	1812	-			576					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1727A>G	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833217	0.91036	.	.	ENSG00000185101	ENST00000332826	T	0.73258	-0.73	4.08	4.08	0.47627	.	0.144713	0.43260	U	0.000592	D	0.86049	0.5840	M	0.92317	3.295	0.80722	D	1	D;D	0.64830	0.994;0.991	P;D	0.65987	0.901;0.94	D	0.89490	0.3756	10	0.87932	D	0	.	13.3731	0.60723	0.0:0.0:0.0:1.0	.	277;576	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	G	576	ENSP00000332788:D576G	ENSP00000332788:D576G	D	-	2	0	ANO9	410522	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.104000	0.71498	1.615000	0.50252	0.379000	0.24179	GAC		0.687	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	
OR51L1	119682	broad.mit.edu	37	11	5020398	5020398	+	Silent	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:5020398T>C	ENST00000321543.1	+	1	186	c.186T>C	c.(184-186)taT>taC	p.Y62Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCCATGTATTACTTTATTT	0.448																																						uc010qyu.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(184-186)taT>taC		Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.							210.0	186.0	194.0					11																	5020398		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020398T>C	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.186T>C	11.37:g.5020398T>C							p.Y62Y	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	186	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	62					Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.186T>C	CCDS31369.1																																																																																				0.448	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755	
LYVE1	10894	broad.mit.edu	37	11	10580685	10580685	+	Silent	SNP	G	G	A	rs553314813		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:10580685G>A	ENST00000256178.3	-	6	1100	c.942C>T	c.(940-942)acC>acT	p.T314T	MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Silent_p.T210T|LYVE1_ENST00000531706.1_5'Flank|MRVI1-AS1_ENST00000529829.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	314					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T314T(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GGCATCGCACGGTAGTTTTGC	0.463																																						uc001miv.2																			1	Substitution - coding silent(1)	p.T314T(2)|p.T313S(1)	central_nervous_system(1)	central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(940-942)acC>acT		Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.							297.0	273.0	281.0					11																	10580685		2201	4294	6495	SO:0001819	synonymous_variant	10894				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		g.chr11:10580685G>A	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.942C>T	11.37:g.10580685G>A						MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Silent_p.T210T	p.T314T	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	5	1228	-			314					Q8TC18|Q9UNF4	Silent	SNP	ENST00000256178.3	37	c.942C>T	CCDS7804.1																																																																																				0.463	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164	
MRGPRX1	259249	broad.mit.edu	37	11	18955854	18955854	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:18955854A>C	ENST00000302797.3	-	1	702	c.478T>G	c.(478-480)Tta>Gta	p.L160V	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	160					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCCACATAACATCCACTCC	0.557																																						uc001mpg.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(478-480)Tta>Gta		Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.							105.0	88.0	94.0					11																	18955854		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955854A>C		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.478T>G	11.37:g.18955854A>C	ENSP00000305766:p.Leu160Val						p.L160V	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			0	696	-			160					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.478T>G	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	4.188	0.033612	0.08101	.	.	ENSG00000170255	ENST00000302797	T	0.73575	-0.76	2.28	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	1.721060	0.02936	N	0.139878	T	0.61185	0.2327	N	0.20685	0.6	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.49890	-0.8891	10	0.52906	T	0.07	.	6.0132	0.19588	0.7706:0.0:0.0:0.2294	.	160	Q96LB2	MRGX1_HUMAN	V	160	ENSP00000305766:L160V	ENSP00000305766:L160V	L	-	1	2	MRGPRX1	18912430	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	-0.358000	0.07641	0.268000	0.21939	0.402000	0.26972	TTA		0.557	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199	
ATG2A	23130	broad.mit.edu	37	11	64663974	64663974	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:64663974G>A	ENST00000377264.3	-	39	5499	c.5387C>T	c.(5386-5388)gCc>gTc	p.A1796V	ATG2A_ENST00000421419.2_Missense_Mutation_p.A1798V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1796					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TTCCAGGGCGGCAGAGGCTGT	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001obx.3																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(5386-5388)gCc>gTc		Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.							46.0	47.0	47.0					11																	64663974		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64663974G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5387C>T	11.37:g.64663974G>A	ENSP00000366475:p.Ala1796Val		OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_uc001obw.3_Missense_Mutation_p.A561V	p.A1796V	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			38	5502	-			1796					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.5387C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449551	0.63178	.	.	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.09630	2.96;2.96	3.86	2.93	0.34026	.	0.000000	0.64402	D	0.000001	T	0.34600	0.0903	M	0.87180	2.865	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.19910	-1.0291	10	0.62326	D	0.03	.	10.6719	0.45764	0.0:0.0:0.807:0.193	.	1796;1798	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	V	1798;189;1796	ENSP00000410522:A1798V;ENSP00000366475:A1796V	ENSP00000366473:A189V	A	-	2	0	ATG2A	64420550	1.000000	0.71417	0.504000	0.27639	0.468000	0.32798	8.843000	0.92142	0.957000	0.37930	-0.314000	0.08810	GCC		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	
DSCAML1	57453	broad.mit.edu	37	11	117306485	117306485	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:117306485C>T	ENST00000321322.6	-	27	4932	c.4931G>A	c.(4930-4932)gGt>gAt	p.G1644D	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G1374D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1584					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATCCCCTTCACCTTGAGCAGA	0.522																																						uc001prh.1																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4930-4932)gGt>gAt		Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.							169.0	122.0	138.0					11																	117306485		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117306485C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4931G>A	11.37:g.117306485C>T	ENSP00000315465:p.Gly1644Asp						p.G1644D	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4933	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1584					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4931G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205073	0.58234	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60920	0.18;0.15	4.47	4.47	0.54385	.	.	.	.	.	T	0.43743	0.1261	N	0.19112	0.55	0.58432	D	0.999999	B	0.26845	0.161	B	0.29598	0.104	T	0.29852	-0.9998	9	0.13470	T	0.59	.	17.689	0.88265	0.0:1.0:0.0:0.0	.	1584	Q8TD84	DSCL1_HUMAN	D	1374;1644;1351	ENSP00000434335:G1374D;ENSP00000315465:G1644D	ENSP00000315465:G1644D	G	-	2	0	DSCAML1	116811695	0.990000	0.36364	0.992000	0.48379	0.889000	0.51656	2.881000	0.48538	2.490000	0.84030	0.655000	0.94253	GGT		0.522	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
VPS11	55823	broad.mit.edu	37	11	118941054	118941054	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:118941054C>T	ENST00000300793.6	+	5	622	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	RP11-110I1.13_ENST00000607709.1_RNA|VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	195					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ATTGGCCTTTCGCCAAGCAGG	0.517																																						uc010ryx.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(577-579)Cgc>Tgc		Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.							65.0	67.0	67.0					11																	118941054		1944	4137	6081	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118941054C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.580C>T	11.37:g.118941054C>T	ENSP00000475301:p.Arg194Cys					VPS11_uc010ryy.2_Missense_Mutation_p.R41C	p.R193C	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	4	619	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	195					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.577C>T																																																																																					0.517	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729	
ROBO4	54538	broad.mit.edu	37	11	124765757	124765757	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:124765757A>C	ENST00000306534.3	-	5	1216	c.731T>G	c.(730-732)cTg>cGg	p.L244R	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.L99R	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	244					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CACATTTTCCAGCTGAATTCG	0.602																																						uc001qbg.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(730-732)cTg>cGg		Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.							73.0	74.0	74.0					11																	124765757		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765757A>C	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.731T>G	11.37:g.124765757A>C	ENSP00000304945:p.Leu244Arg					ROBO4_uc010sas.2_Missense_Mutation_p.L99R|ROBO4_uc001qbh.2_Missense_Mutation_p.L134R|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	p.L244R	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	4	871	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	244					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.731T>G	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458810	0.84317	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.67171	-0.25;0.13	4.96	4.96	0.65561	.	0.000000	0.30979	N	0.008496	T	0.80768	0.4686	M	0.78049	2.395	0.38983	D	0.958993	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.991	D	0.84363	0.0539	10	0.87932	D	0	.	12.1442	0.54014	1.0:0.0:0.0:0.0	.	134;244	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	R	244;134;99	ENSP00000304945:L244R;ENSP00000437129:L99R	ENSP00000304945:L244R	L	-	2	0	ROBO4	124270967	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.315000	0.65810	2.082000	0.62665	0.459000	0.35465	CTG		0.602	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
PTPN6	5777	broad.mit.edu	37	12	7069548	7069548	+	Silent	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr12:7069548T>C	ENST00000318974.9	+	14	1867	c.1623T>C	c.(1621-1623)taT>taC	p.Y541Y	PTPN6_ENST00000456013.1_Silent_p.Y541Y|U47924.27_ENST00000537269.1_lincRNA|PTPN6_ENST00000399448.1_Silent_p.Y543Y|PTPN6_ENST00000447931.2_Silent_p.Y502Y|PTPN6_ENST00000539029.1_3'UTR	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	541					abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACATCACCTATCCCCCAGCCA	0.647																																						uc001qsb.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(1621-1623)taT>taC		Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.							78.0	87.0	84.0					12																	7069548		2165	4259	6424	SO:0001819	synonymous_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7069548T>C		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1623T>C	12.37:g.7069548T>C						PTPN6_uc001qsa.1_Silent_p.Y543Y|PTPN6_uc010sfr.1_Silent_p.Y502Y|PTPN6_uc009zfl.1_Silent_p.Y541Y|PTPN6_uc010sfs.1_Silent_p.Y529Y	p.Y541Y	NM_002831	NP_002822	P29350	PTN6_HUMAN			13	1865	+			541					A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	c.1623T>C	CCDS44820.1																																																																																				0.647	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831	
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																						uc010sho.2																			0											c.(319-321)Ggc>Cgc		Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R							0	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612								
ZC3H13	23091	broad.mit.edu	37	13	46559437	46559437	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr13:46559437T>C	ENST00000242848.4	-	10	2063	c.1715A>G	c.(1714-1716)gAa>gGa	p.E572G	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E572G			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	572	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTACCCTTTTCAGGTAACTC	0.358																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1714-1716)gAa>gGa		Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.							59.0	60.0	60.0					13																	46559437		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559437T>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1715A>G	13.37:g.46559437T>C	ENSP00000242848:p.Glu572Gly					ZC3H13_uc001vas.1_Missense_Mutation_p.E572G|ZC3H13_uc001vat.1_Missense_Mutation_p.E572G	p.E572G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	8	1721	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	572			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1715A>G		.	.	.	.	.	.	.	.	.	.	T	12.90	2.076290	0.36662	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35605	2.3;1.3	5.73	5.73	0.89815	.	0.089576	0.48286	D	0.000186	T	0.34890	0.0913	L	0.32530	0.975	0.80722	D	1	P;P	0.41848	0.651;0.763	B;B	0.42361	0.214;0.385	T	0.16247	-1.0409	10	0.66056	D	0.02	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	572;572	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	G	572;572;388	ENSP00000242848:E572G;ENSP00000282007:E572G	ENSP00000242848:E572G	E	-	2	0	ZC3H13	45457438	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.357000	0.59436	2.308000	0.77769	0.533000	0.62120	GAA		0.358	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
OR4K13	390433	broad.mit.edu	37	14	20502502	20502502	+	Missense_Mutation	SNP	C	C	T	rs373021760		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr14:20502502C>T	ENST00000315693.2	-	1	417	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGTGAGCACCCGTGGGCTCAT	0.488																																						uc010tkz.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(415-417)cGg>cAg		Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.		C	GLN/ARG	1,4405		0,1,2202	140.0	139.0	139.0		416	0.6	0.0	14		139	0,8600		0,0,4300	no	missense	OR4K13	NM_001004714.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	139/305	20502502	1,13005	2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502502C>T		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.416G>A	14.37:g.20502502C>T	ENSP00000319322:p.Arg139Gln						p.R139Q	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	0	416	-	all_cancers(95;0.00108)		139					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.416G>A	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	1.421	-0.572781	0.03882	2.27E-4	0.0	ENSG00000176253	ENST00000315693	T	0.41758	0.99	3.6	0.596	0.17496	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33075	U	0.005306	T	0.24275	0.0588	N	0.25485	0.75	0.09310	N	1	B	0.27316	0.175	B	0.28784	0.094	T	0.18023	-1.0350	10	0.20519	T	0.43	.	6.9751	0.24670	0.0:0.563:0.0:0.437	.	139	Q8NH42	OR4KD_HUMAN	Q	139	ENSP00000319322:R139Q	ENSP00000319322:R139Q	R	-	2	0	OR4K13	19572342	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-1.576000	0.02129	-0.077000	0.12752	-1.274000	0.01402	CGG		0.488	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1		
NIPA2	81614	broad.mit.edu	37	15	23006662	23006662	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr15:23006662C>T	ENST00000337451.3	-	8	1254	c.642G>A	c.(640-642)cgG>cgA	p.R214R	NIPA2_ENST00000359727.4_Silent_p.R195R|NIPA2_ENST00000398014.2_Silent_p.R214R|NIPA2_ENST00000398013.3_Silent_p.R214R|NIPA2_ENST00000539711.2_Silent_p.R195R	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	214						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CCAGGGGATGCCGCAGCACAG	0.502																																						uc001yvb.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(640-642)cgG>cgA		Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.							75.0	81.0	79.0					15																	23006662		2203	4300	6503	SO:0001819	synonymous_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006662C>T	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.642G>A	15.37:g.23006662C>T						NIPA2_uc001yux.3_Silent_p.R214R|NIPA2_uc001yuy.3_Silent_p.R214R|NIPA2_uc001yuz.3_Silent_p.R214R|NIPA2_uc010ayb.3_Silent_p.R195R|NIPA2_uc001yva.3_Silent_p.R195R	p.R214R	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	9	1499	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	214					F8W7Y8|Q96F03|Q9BVS2	Silent	SNP	ENST00000337451.3	37	c.642G>A	CCDS10010.1																																																																																				0.502	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922	
MKRN3	7681	broad.mit.edu	37	15	23811322	23811322	+	Silent	SNP	C	C	T	rs36072495	byFrequency	TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr15:23811322C>T	ENST00000314520.3	+	1	869	c.393C>T	c.(391-393)ggC>ggT	p.G131G	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	131					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGAGGGTGGCGTTTCGCCGC	0.622													C|||	35	0.00698882	0.0257	0.0	5008	,	,		17407	0.0		0.0	False		,,,				2504	0.001					uc001ywh.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(391-393)ggC>ggT		Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.		C		48,4358	48.2+/-83.0	0,48,2155	44.0	47.0	46.0		393	-5.1	0.0	15	dbSNP_126	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MKRN3	NM_005664.3		0,49,6454	TT,TC,CC		0.0116,1.0894,0.3767		131/508	23811322	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811322C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.393C>T	15.37:g.23811322C>T						MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.G131G	p.G131G	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	0	869	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	131						Silent	SNP	ENST00000314520.3	37	c.393C>T	CCDS10013.1																																																																																				0.622	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
CLCN7	1186	broad.mit.edu	37	16	1507700	1507700	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:1507700C>T	ENST00000382745.4	-	8	1338	c.733G>A	c.(733-735)Gga>Aga	p.G245R	CLCN7_ENST00000448525.1_Missense_Mutation_p.G221R|CLCN7_ENST00000262318.8_Missense_Mutation_p.G221R	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	245					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTTACCTTTCCCACGGCCAGG	0.632																																						uc002clv.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(733-735)Gga>Aga		Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.							77.0	69.0	72.0					16																	1507700		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1507700C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.733G>A	16.37:g.1507700C>T	ENSP00000372193:p.Gly245Arg					CLCN7_uc002clw.2_Missense_Mutation_p.G221R	p.G245R	NM_001287	NP_001278	P51798	CLCN7_HUMAN			7	843	-		Hepatocellular(780;0.0893)	245					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.733G>A	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663840	0.88251	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.99800	-6.8;-6.8	5.39	4.44	0.53790	Chloride channel, core (2);	0.051232	0.85682	D	0.000000	D	0.99869	0.9938	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96642	0.9475	10	0.87932	D	0	-14.676	12.5787	0.56378	0.0:0.9188:0.0:0.0812	.	221;245	E9PDB9;P51798	.;CLCN7_HUMAN	R	221;198;245;187	ENSP00000410907:G221R;ENSP00000372193:G245R	ENSP00000262318:G198R	G	-	1	0	CLCN7	1447701	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	5.489000	0.66875	1.271000	0.44313	0.561000	0.74099	GGA		0.632	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	
PKD1	5310	broad.mit.edu	37	16	2147417	2147417	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:2147417C>T	ENST00000262304.4	-	33	10516	c.10308G>A	c.(10306-10308)caG>caA	p.Q3436Q	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.Q3435Q|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3436					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCGTGCCAGCTGCCGCAGAT	0.677																																						uc002cos.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(10306-10308)caG>caA		Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.							21.0	24.0	23.0					16																	2147417		2192	4290	6482	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2147417C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10308G>A	16.37:g.2147417C>T						TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.Q3435Q|PKD1_uc010bse.1_Non-coding_Transcript	p.Q3436Q	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			32	10517	-			3436					Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.10308G>A	CCDS32369.1																																																																																				0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
GPR139	124274	broad.mit.edu	37	16	20043354	20043354	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:20043354C>T	ENST00000570682.1	-	2	1065	c.765G>A	c.(763-765)gcG>gcA	p.A255A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	255					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTGGATGGGCGCCCCATAGA	0.532																																						uc002dgu.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(763-765)gcG>gcA		Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.							61.0	65.0	64.0					16																	20043354		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043354C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.765G>A	16.37:g.20043354C>T						GPR139_uc010vaw.1_Silent_p.A162A	p.A255A	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			1	927	-			255					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.765G>A	CCDS32398.1																																																																																				0.532	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911	
KRT13	3860	broad.mit.edu	37	17	39659672	39659672	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:39659672C>T	ENST00000246635.3	-	3	648	c.602G>A	c.(601-603)cGc>cAc	p.R201H	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.R201H|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.R201H	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R201H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CACGCTCTGGCGCAGGGCCAG	0.478																																						uc002hwu.1																			1	Substitution - Missense(1)	p.R201H(2)	endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(601-603)cGc>cAc		Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.							64.0	64.0	64.0					17																	39659672		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659672C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.602G>A	17.37:g.39659672C>T	ENSP00000246635:p.Arg201His					KRT13_uc002hwv.1_Missense_Mutation_p.R201H|KRT13_uc010wfr.2_Missense_Mutation_p.R94H|KRT13_uc010cxo.3_Missense_Mutation_p.R201H|KRT13_uc021txk.1_Missense_Mutation_p.R94H	p.R201H	NM_153490	NP_705694	P13646	K1C13_HUMAN			2	665	-		Breast(137;0.000286)	201			Coil 1B.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.602G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813906	0.90790	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.91945	-2.94;-2.94	4.4	4.4	0.53042	Filament (1);	0.000000	0.46145	D	0.000309	D	0.93808	0.8020	M	0.79693	2.465	0.80722	D	1	P;P;P;P	0.52842	0.956;0.869;0.841;0.869	P;P;B;P	0.50162	0.633;0.493;0.36;0.493	D	0.93115	0.6520	10	0.32370	T	0.25	.	17.5315	0.87816	0.0:1.0:0.0:0.0	.	189;201;201;201	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	H	201;201;189	ENSP00000246635:R201H;ENSP00000336604:R201H	ENSP00000157775:R189H	R	-	2	0	KRT13	36913198	0.996000	0.38824	1.000000	0.80357	0.960000	0.62799	3.198000	0.51035	2.444000	0.82710	0.561000	0.74099	CGC		0.478	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490	
KRT14	3861	broad.mit.edu	37	17	39741254	39741254	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:39741254C>T	ENST00000167586.6	-	2	667	c.581G>A	c.(580-582)cGt>cAt	p.R194H		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	194	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCGGCCAGACGGGCATTGTC	0.502																																						uc002hxf.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(580-582)cGt>cAt		Homo sapiens keratin 14 (KRT14), mRNA.							99.0	79.0	85.0					17																	39741254		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39741254C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.581G>A	17.37:g.39741254C>T	ENSP00000167586:p.Arg194His					JUP_uc010wfs.2_Intron	p.R194H	NM_000526	NP_000517	P02533	K1C14_HUMAN			1	642	-		Breast(137;0.000307)	194			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.581G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919461	0.73098	.	.	ENSG00000186847	ENST00000167586	D	0.90069	-2.61	5.44	5.44	0.79542	Filament (1);	0.000000	0.49305	D	0.000151	D	0.87470	0.6185	M	0.63169	1.94	0.44123	D	0.9969	P	0.38565	0.637	B	0.40444	0.329	D	0.87839	0.2650	10	0.87932	D	0	.	10.1633	0.42864	0.0:0.8511:0.0:0.1489	.	194	P02533	K1C14_HUMAN	H	194	ENSP00000167586:R194H	ENSP00000167586:R194H	R	-	2	0	KRT14	36994780	0.790000	0.28787	1.000000	0.80357	0.992000	0.81027	1.475000	0.35409	2.710000	0.92621	0.643000	0.83706	CGT		0.502	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526	
MED13	9969	broad.mit.edu	37	17	60060308	60060308	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:60060308C>T	ENST00000397786.2	-	16	3132	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1019					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACGAGGAGTCCGAGGAGTCCT	0.512																																						uc002izo.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3055-3057)cGg>cAg		Homo sapiens mediator complex subunit 13 (MED13), mRNA.							66.0	67.0	67.0					17																	60060308		1918	4129	6047	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60060308C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3056G>A	17.37:g.60060308C>T	ENSP00000380888:p.Arg1019Gln						p.R1019Q	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			15	3133	-			1019					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.3056G>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094183	0.76870	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75050	-0.9	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.82793	0.5114	L	0.55834	1.745	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.75950	-0.3137	10	0.12766	T	0.61	-24.427	20.1551	0.98106	0.0:1.0:0.0:0.0	.	1019	Q9UHV7	MED13_HUMAN	Q	1019;1018	ENSP00000380888:R1019Q	ENSP00000262436:R1018Q	R	-	2	0	MED13	57415090	0.991000	0.36638	0.960000	0.40013	0.815000	0.46073	7.403000	0.79983	2.760000	0.94817	0.655000	0.94253	CGG		0.512	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						uc021uiv.1																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1894-1899)gcagagfs		Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_uc002kzr.1_Frame_Shift_Del_p.A457fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.A457fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.A457fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.A172fs	p.A632fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			14	1993_1994	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457			Poly-Ser.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1896_1897delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
CATSPERD	257062	broad.mit.edu	37	19	5778542	5778542	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:5778542G>A	ENST00000381624.3	+	22	2313	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	751					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CGCACAGCACGCGGCCGCAGG	0.612																																						uc002mda.3																			0											c.(2251-2253)cGc>cAc		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.							52.0	58.0	56.0					19																	5778542		2103	4225	6328	SO:0001583	missense	257062					integral to membrane		g.chr19:5778542G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2252G>A	19.37:g.5778542G>A	ENSP00000371037:p.Arg751His						p.R751H	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			21	2313	+			751					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.2252G>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364450	0.41902	.	.	ENSG00000174898	ENST00000381624;ENST00000381613	T	0.25414	1.8	3.37	-6.73	0.01749	.	2.326680	0.02508	N	0.091238	T	0.24353	0.0590	L	0.36672	1.1	0.09310	N	1	D	0.59357	0.985	P	0.49683	0.619	T	0.45745	-0.9240	10	0.72032	D	0.01	.	5.1405	0.14955	0.2053:0.0:0.516:0.2787	.	751	Q86XM0	TM146_HUMAN	H	751;420	ENSP00000371037:R751H	ENSP00000371026:R420H	R	+	2	0	TMEM146	5729542	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.514000	0.00445	-1.865000	0.01147	-0.378000	0.06908	CGC		0.612	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
MUC16	94025	broad.mit.edu	37	19	9067788	9067788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:9067788delG	ENST00000397910.4	-	3	19861	c.19658delC	c.(19657-19659)acafs	p.T6553fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6555	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCATATCTGTGGTCTTCAC	0.473																																						uc002mkp.3																			0		p.T6552A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(19657-19659)acafs		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							88.0	79.0	82.0					19																	9067788		1919	4116	6035	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067788delG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19658delC	19.37:g.9067788delG	ENSP00000381008:p.Thr6553fs						p.T6553fs	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	19862	-			6555			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.19658delC	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ACP7	390928	broad.mit.edu	37	19	39591660	39591660	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:39591660C>T	ENST00000331256.5	+	8	1153	c.879C>T	c.(877-879)aaC>aaT	p.N293N	PAPL_ENST00000594229.1_Missense_Mutation_p.T252M	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		293						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										ACTGCTCCAACGCAGATCTGG	0.612																																						uc002oki.3																			0											c.(877-879)aaC>aaT		Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.							72.0	73.0	73.0					19																	39591660		2203	4300	6503	SO:0001819	synonymous_variant	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39591660C>T																												ENST00000331256.5:c.879C>T	19.37:g.39591660C>T						PAPL_uc010egl.3_Missense_Mutation_p.T252M	p.N293N	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			7	1153	+			293					B2RN68	Silent	SNP	ENST00000331256.5	37	c.879C>T	CCDS33018.1																																																																																				0.612	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1		
KDELR1	10945	broad.mit.edu	37	19	48887570	48887570	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:48887570C>T	ENST00000330720.2	-	4	715	c.521G>A	c.(520-522)gGc>gAc	p.G174D	KDELR1_ENST00000597017.1_Missense_Mutation_p.G112D	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	174					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GTCGAAGAAGCCCTCGAAATG	0.542																																						uc002pjb.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(520-522)gGc>gAc		Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (KDELR1), mRNA.							83.0	70.0	75.0					19																	48887570		2203	4300	6503	SO:0001583	missense	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48887570C>T	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.521G>A	19.37:g.48887570C>T	ENSP00000329471:p.Gly174Asp					KDELR1_uc002pja.1_Missense_Mutation_p.G112D	p.G174D	NM_006801	NP_006792	P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	3	716	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	174					B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	ENST00000330720.2	37	c.521G>A	CCDS12718.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967292	0.34754	.	.	ENSG00000105438	ENST00000330720	T	0.78364	-1.17	4.68	3.64	0.41730	.	0.000000	0.64402	D	0.000010	T	0.59810	0.2221	N	0.20445	0.575	0.50171	D	0.999856	B	0.02656	0.0	B	0.08055	0.003	T	0.51957	-0.8639	10	0.18710	T	0.47	.	9.2839	0.37744	0.0:0.8247:0.0:0.1753	.	174	P24390	ERD21_HUMAN	D	174	ENSP00000329471:G174D	ENSP00000329471:G174D	G	-	2	0	KDELR1	53579382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.029000	0.41098	1.340000	0.45581	0.655000	0.94253	GGC		0.542	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1		
TRPM4	54795	broad.mit.edu	37	19	49705399	49705400	+	Splice_Site	INS	-	-	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:49705399_49705400insT	ENST00000252826.5	+	20	3257		c.e20+1		TRPM4_ENST00000427978.2_Splice_Site|TRPM4_ENST00000355712.5_Splice_Site	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4						calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCATGTTCAGGTGAGGCCTGAC	0.55																																						uc002pmw.3																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.e20+1		Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49705399_49705400insT	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3131+1->T	19.37:g.49705400_49705400dupT						TRPM4_uc010emu.3_Splice_Site_p.S899_splice|TRPM4_uc010yak.2_Splice_Site_p.S508_splice|TRPM4_uc002pmx.3_Splice_Site_p.S870_splice|TRPM4_uc010emv.3_Splice_Site_p.S929_splice|TRPM4_uc010yal.2_Splice_Site_p.S690_splice|TRPM4_uc002pmy.3_Splice_Site_p.S386_splice	p.S1044_splice	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	20	3239	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1044					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Splice_Site	INS	ENST00000252826.5	37	c.3131_splice	CCDS33073.1																																																																																				0.550	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	Intron
ANKRD53	79998	broad.mit.edu	37	2	71209104	71209104	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:71209104C>T	ENST00000360589.3	+	4	690	c.656C>T	c.(655-657)gCc>gTc	p.A219V	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000457410.1_Missense_Mutation_p.A185V|ANKRD53_ENST00000272421.6_Missense_Mutation_p.A219V	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	219										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CACCTGGCAGCCCGTGACGGC	0.577																																						uc002shl.4																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(655-657)gCc>gTc		Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA.							66.0	62.0	63.0					2																	71209104		2203	4300	6503	SO:0001583	missense	79998							g.chr2:71209104C>T	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.656C>T	2.37:g.71209104C>T	ENSP00000353796:p.Ala219Val					ANKRD53_uc002shk.4_Missense_Mutation_p.A219V	p.A219V	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN			3	857	+			219					Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	c.656C>T	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043738	0.36085	.	.	ENSG00000144031	ENST00000272421;ENST00000457410;ENST00000360589	T;T;T	0.40225	1.04;1.04;1.04	5.47	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.497322	0.15798	N	0.244093	T	0.35885	0.0947	L	0.31804	0.96	0.24965	N	0.991709	B;B	0.22909	0.077;0.063	B;B	0.25884	0.064;0.062	T	0.25676	-1.0125	10	0.51188	T	0.08	-16.7193	15.5172	0.75833	0.0:0.9245:0.0:0.0755	.	219;219	Q8N9V6;Q8N9V6-2	ANR53_HUMAN;.	V	219;185;219	ENSP00000272421:A219V;ENSP00000407004:A185V;ENSP00000353796:A219V	ENSP00000272421:A219V	A	+	2	0	ANKRD53	71062612	0.971000	0.33674	0.366000	0.25914	0.486000	0.33341	2.854000	0.48325	0.812000	0.34326	-1.134000	0.01955	GCC		0.577	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933	
DYSF	8291	broad.mit.edu	37	2	71871138	71871138	+	Missense_Mutation	SNP	T	T	C	rs559940171		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:71871138T>C	ENST00000258104.3	+	41	4731	c.4454T>C	c.(4453-4455)aTa>aCa	p.I1485T	DYSF_ENST00000409762.1_Missense_Mutation_p.I1502T|DYSF_ENST00000409744.1_Missense_Mutation_p.I1493T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.I1507T|DYSF_ENST00000410020.3_Missense_Mutation_p.I1524T|DYSF_ENST00000409582.3_Missense_Mutation_p.I1523T|DYSF_ENST00000394120.2_Missense_Mutation_p.I1486T|DYSF_ENST00000413539.2_Missense_Mutation_p.I1516T|DYSF_ENST00000429174.2_Missense_Mutation_p.I1506T|DYSF_ENST00000409651.1_Missense_Mutation_p.I1517T|DYSF_ENST00000410041.1_Missense_Mutation_p.I1503T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1485					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTTGCCTCCATAGGGGAGAGG	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		20127	0.0		0.0	False		,,,				2504	0.001					uc010fen.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4570-4572)aTa>aCa		Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.							98.0	77.0	84.0					2																	71871138		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71871138T>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4454T>C	2.37:g.71871138T>C	ENSP00000258104:p.Ile1485Thr					DYSF_uc010fei.3_Missense_Mutation_p.I1502T|DYSF_uc010feh.3_Missense_Mutation_p.I1492T|DYSF_uc002sig.4_Missense_Mutation_p.I1471T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.I1516T|DYSF_uc010fee.3_Missense_Mutation_p.I1506T|DYSF_uc010fef.3_Missense_Mutation_p.I1523T|DYSF_uc002sie.3_Missense_Mutation_p.I1485T|DYSF_uc010feo.3_Missense_Mutation_p.I1517T|DYSF_uc010fej.3_Missense_Mutation_p.I1493T|DYSF_uc010fel.3_Missense_Mutation_p.I1472T|DYSF_uc010fem.3_Missense_Mutation_p.I1507T|DYSF_uc002sif.3_Missense_Mutation_p.I1486T|DYSF_uc010fek.3_Missense_Mutation_p.I1503T|DYSF_uc010yqy.2_Missense_Mutation_p.I366T|DYSF_uc010yqz.2_Missense_Mutation_p.I246T	p.I1524T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN			41	4712	+			1485					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4571T>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	7.755	0.704137	0.15172	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.65;-1.65;-1.67;-1.67;-1.64;-1.65;-1.64;-1.67;-1.67;-1.68;-1.65	6.06	0.476	0.16779	.	0.685983	0.15579	N	0.255013	T	0.55752	0.1940	N	0.03029	-0.43	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001;0.001;0.001	T	0.46345	-0.9198	10	0.02654	T	1	-1.076	9.7266	0.40335	0.0:0.3405:0.0:0.6595	.	249;1517;1524;1507;1472;1503;1493;1502;1492;1516;1523;1506;1471;1486;1485	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	T	1516;1502;1523;1506;1485;1517;1486;1493;1507;1524;1503	ENSP00000407046:I1516T;ENSP00000387137:I1502T;ENSP00000386547:I1523T;ENSP00000398305:I1506T;ENSP00000258104:I1485T;ENSP00000386683:I1517T;ENSP00000377678:I1486T;ENSP00000386285:I1493T;ENSP00000386512:I1507T;ENSP00000386881:I1524T;ENSP00000386617:I1503T	ENSP00000258104:I1485T	I	+	2	0	DYSF	71724646	0.000000	0.05858	0.004000	0.12327	0.899000	0.52679	-0.070000	0.11523	0.158000	0.19367	0.533000	0.62120	ATA		0.502	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
AMER3	205147	broad.mit.edu	37	2	131521578	131521578	+	Missense_Mutation	SNP	C	C	T	rs548602521		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:131521578C>T	ENST00000423981.1	+	2	2043	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	AMER3_ENST00000321420.4_Missense_Mutation_p.P645S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	645					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CCAGAAGGAGCCTGGGCCACC	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16805	0.0		0.0	False		,,,				2504	0.0					uc021voy.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(1933-1935)Cct>Tct		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							26.0	29.0	28.0					2																	131521578		2201	4300	6501	SO:0001583	missense	205147							g.chr2:131521578C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1933C>T	2.37:g.131521578C>T	ENSP00000392700:p.Pro645Ser					FAM123C_uc002trw.2_Missense_Mutation_p.P645S|FAM123C_uc010fmv.2_Missense_Mutation_p.P645S|FAM123C_uc010fms.1_Missense_Mutation_p.P645S|FAM123C_uc010fmt.1_Missense_Mutation_p.P645S|FAM123C_uc010fmu.1_Missense_Mutation_p.P645S	p.P645S	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	1933	+	Colorectal(110;0.1)		645					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1933C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141678	0.21205	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.46819	0.86;0.86	3.79	-0.485	0.12067	.	1.857240	0.03470	N	0.213444	T	0.27241	0.0668	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.07009	-1.0795	10	0.14252	T	0.57	.	2.7836	0.05367	0.1743:0.3815:0.3403:0.1039	.	645	Q8N944	F123C_HUMAN	S	645	ENSP00000314914:P645S;ENSP00000392700:P645S	ENSP00000314914:P645S	P	+	1	0	FAM123C	131238048	0.001000	0.12720	0.001000	0.08648	0.150000	0.21749	0.317000	0.19487	-0.223000	0.09943	-0.521000	0.04368	CCT		0.602	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
SCN9A	6335	broad.mit.edu	37	2	167085307	167085307	+	Missense_Mutation	SNP	C	C	T	rs200566017		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:167085307C>T	ENST00000409435.1	-	21	4099	c.4100G>A	c.(4099-4101)cGt>cAt	p.R1367H	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1368H|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1356H|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1368H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1367					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.R1356H(1)|p.R1356L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATTCGGAACGATTTGGAAC	0.398																																						uc010fpl.3																			2	Substitution - Missense(2)	p.R1356H(2)|p.R1356L(2)	lung(1)|prostate(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4066-4068)cGt>cAt		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)	C	HIS/ARG	0,4014		0,0,2007	230.0	231.0	231.0		4067	-0.3	0.0	2		231	2,8398		0,2,4198	no	missense	SCN9A	NM_002977.3	29	0,2,6205	TT,TC,CC		0.0238,0.0,0.0161	benign	1356/1978	167085307	2,12412	2007	4200	6207	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167085307C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4100G>A	2.37:g.167085307C>T	ENSP00000386330:p.Arg1367His					BC051759_uc002udp.3_Intron	p.R1356H	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			21	4408	-			1367					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4067G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907332	0.33628	0.0	2.38E-4	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96073	-3.87;-3.9;-3.9;-3.9	5.23	-0.341	0.12639	.	1.282520	0.05251	N	0.514045	D	0.91818	0.7411	L	0.52266	1.64	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.78924	-0.2012	10	0.27785	T	0.31	.	4.0104	0.09619	0.1811:0.2568:0.0:0.5621	.	1356	E7EUN6	.	H	1356;1368;1368;1367	ENSP00000386306:R1356H;ENSP00000364536:R1368H;ENSP00000304748:R1368H;ENSP00000386330:R1367H	ENSP00000304748:R1368H	R	-	2	0	SCN9A	166793553	0.002000	0.14202	0.001000	0.08648	0.727000	0.41649	1.311000	0.33562	0.233000	0.21120	0.557000	0.71058	CGT		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
HDLBP	3069	broad.mit.edu	37	2	242173290	242173290	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:242173290A>G	ENST00000391975.1	-	24	3460	c.3233T>C	c.(3232-3234)aTc>aCc	p.I1078T	HDLBP_ENST00000391976.2_Missense_Mutation_p.I1078T|HDLBP_ENST00000427183.2_Missense_Mutation_p.I1045T|HDLBP_ENST00000310931.4_Missense_Mutation_p.I1078T	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1078	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTCCAACCGGATTTGGGTAAT	0.498																																						uc002waz.3																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3232-3234)aTc>aCc		Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.							184.0	163.0	171.0					2																	242173290		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242173290A>G		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3233T>C	2.37:g.242173290A>G	ENSP00000375836:p.Ile1078Thr					HDLBP_uc002wba.3_Missense_Mutation_p.I1078T|HDLBP_uc021vzg.1_Missense_Mutation_p.I1045T	p.I1078T	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	23	3406	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1078			KH 13.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.3233T>C	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079738	0.55753	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.29	5.29	0.74685	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.992;0.992	T	0.82090	-0.0629	10	0.87932	D	0	-19.9792	15.2442	0.73493	1.0:0.0:0.0:0.0	.	1045;1078	E7EM71;Q00341	.;VIGLN_HUMAN	T	1078;1078;1078;1045	ENSP00000375836:I1078T;ENSP00000375837:I1078T;ENSP00000312042:I1078T;ENSP00000399139:I1045T	ENSP00000312042:I1078T	I	-	2	0	HDLBP	241821963	1.000000	0.71417	0.090000	0.20809	0.180000	0.23129	9.220000	0.95180	2.008000	0.58898	0.460000	0.39030	ATC		0.498	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
SLC24A3	57419	broad.mit.edu	37	20	19677519	19677519	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:19677519C>T	ENST00000328041.6	+	14	1767	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	524					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACCAGCGTGCCTGACTGCAT	0.592																																						uc002wrl.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1570-1572)Cct>Tct		Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.							97.0	79.0	85.0					20																	19677519		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19677519C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1570C>T	20.37:g.19677519C>T	ENSP00000333519:p.Pro524Ser						p.P524S	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			13	1767	+			524					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1570C>T	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072509	0.93950	.	.	ENSG00000185052	ENST00000328041	T	0.70869	-0.52	5.7	5.7	0.88788	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.87962	0.6310	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89788	0.3966	9	.	.	.	.	18.6103	0.91283	0.0:1.0:0.0:0.0	.	524	Q9HC58	NCKX3_HUMAN	S	524	ENSP00000333519:P524S	.	P	+	1	0	SLC24A3	19625519	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.789000	0.85783	2.695000	0.91970	0.561000	0.74099	CCT		0.592	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	
ZSWIM1	90204	broad.mit.edu	37	20	44512381	44512381	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:44512381T>C	ENST00000372523.1	+	2	1245	c.1150T>C	c.(1150-1152)Tgc>Cgc	p.C384R	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.C384R	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	384						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CAGCTGCAGCTGCTACTTTAA	0.597																																						uc021wem.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(1150-1152)Tgc>Cgc		Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.							43.0	49.0	47.0					20																	44512381		2203	4300	6503	SO:0001583	missense	90204						zinc ion binding	g.chr20:44512381T>C	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.1150T>C	20.37:g.44512381T>C	ENSP00000361601:p.Cys384Arg					ZSWIM1_uc010ghi.3_Missense_Mutation_p.C384R	p.C384R	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN			0	1150	+		Myeloproliferative disorder(115;0.028)	384					Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	c.1150T>C	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	T	17.42	3.386152	0.61956	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.80480	-1.38;-1.38	5.27	5.27	0.74061	Zinc finger, SWIM-type (2);	0.000000	0.64402	U	0.000012	D	0.84714	0.5533	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86669	0.1909	10	0.87932	D	0	-12.8618	15.3726	0.74577	0.0:0.0:0.0:1.0	.	384	Q9BR11	ZSWM1_HUMAN	R	384	ENSP00000361601:C384R;ENSP00000361598:C384R	ENSP00000361598:C384R	C	+	1	0	ZSWIM1	43945788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.982000	0.63825	2.209000	0.71365	0.533000	0.62120	TGC		0.597	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603	
COL20A1	57642	broad.mit.edu	37	20	61938888	61938888	+	Silent	SNP	C	C	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:61938888C>G	ENST00000358894.6	+	6	643	c.543C>G	c.(541-543)gtC>gtG	p.V181V	COL20A1_ENST00000326996.6_Silent_p.V181V|COL20A1_ENST00000435874.1_Silent_p.V188V|COL20A1_ENST00000422202.1_Silent_p.V188V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	181	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGACATGGTCTTCCTGGTGG	0.652																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(541-543)gtC>gtG		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							35.0	40.0	38.0					20																	61938888		2039	4166	6205	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61938888C>G	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.543C>G	20.37:g.61938888C>G						COL20A1_uc011aav.2_Silent_p.V2V	p.V181V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			5	643	+	all_cancers(38;1.39e-10)		181			VWFA.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.543C>G	CCDS46628.1																																																																																				0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	
TMPRSS2	7113	broad.mit.edu	37	21	42842599	42842599	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr21:42842599C>T	ENST00000332149.5	-	11	1281	c.1147G>A	c.(1147-1149)Ggg>Agg	p.G383R	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.G383R|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.G420R	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	383	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GCCCCCCACCCGGAAATCCAG	0.582			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	uc010gor.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1258-1260)Ggg>Agg		Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.							50.0	49.0	49.0					21																	42842599		2202	4299	6501	SO:0001583	missense	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42842599C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1147G>A	21.37:g.42842599C>T	ENSP00000330330:p.Gly383Arg					TMPRSS2_uc002yzj.3_Missense_Mutation_p.G383R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G383R	p.G420R	NM_001135099	NP_005647	O15393	TMPS2_HUMAN			10	1319	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	383			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.1258G>A	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885737	0.72410	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.181068	0.37715	N	0.001976	D	0.97275	0.9109	H	0.98446	4.235	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98855	1.0760	10	0.87932	D	0	.	15.5134	0.75802	0.0:1.0:0.0:0.0	.	420;383	F8WES1;O15393	.;TMPS2_HUMAN	R	383;420;383;383	ENSP00000330330:G383R;ENSP00000381588:G420R;ENSP00000391216:G383R;ENSP00000389006:G383R	ENSP00000330330:G383R	G	-	1	0	TMPRSS2	41764469	1.000000	0.71417	0.971000	0.41717	0.472000	0.32918	6.299000	0.72770	2.250000	0.74265	0.467000	0.42956	GGG		0.582	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1		
FBXO7	25793	broad.mit.edu	37	22	32887162	32887162	+	Nonsense_Mutation	SNP	C	C	T	rs369105683		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr22:32887162C>T	ENST00000266087.7	+	6	1288	c.961C>T	c.(961-963)Cga>Tga	p.R321*	FBXO7_ENST00000382058.3_Nonsense_Mutation_p.R242*|FBXO7_ENST00000397426.1_Nonsense_Mutation_p.R207*	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	321	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTTTTACCCGACAAGGTAA	0.368																																						uc003amq.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(961-963)Cga>Tga		Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.		C	stop/ARG,stop/ARG	0,4406		0,0,2203	69.0	71.0	70.0		724,961	3.5	1.0	22		70	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	FBXO7	NM_001033024.1,NM_012179.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	242/444,321/523	32887162	1,13005	2203	4300	6503	SO:0001587	stop_gained	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32887162C>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.961C>T	22.37:g.32887162C>T	ENSP00000266087:p.Arg321*					FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amt.3_Nonsense_Mutation_p.R242*|FBXO7_uc003amu.3_Nonsense_Mutation_p.R207*|FBXO7_uc003amv.3_5'Flank	p.R321*	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN			5	1244	+			321					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Nonsense_Mutation	SNP	ENST00000266087.7	37	c.961C>T	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	39	7.492071	0.98319	0.0	1.16E-4	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	.	.	.	5.63	3.47	0.39725	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-12.2703	14.7979	0.69891	0.2547:0.7453:0.0:0.0	.	.	.	.	X	321;242;207	.	ENSP00000266087:R321X	R	+	1	2	FBXO7	31217162	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	2.948000	0.49066	0.688000	0.31529	0.650000	0.86243	CGA		0.368	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		
LINC00207	388910	broad.mit.edu	37	22	44967271	44967271	+	lincRNA	SNP	G	G	A	rs373497381		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr22:44967271G>A	ENST00000605505.1	+	0	262					NR_028409.1				long intergenic non-protein coding RNA 207											lung(3)	3						cccactttacggatgaggaaa	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		21486	0.0		0.001	False		,,,				2504	0.0					uc011aqg.2																			0				lung(3)	3								Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.		G		0,3984		0,0,1992	56.0	60.0	59.0			-2.7	0.0	22		59	4,8348		0,4,4172	no	intergenic				0,4,6164	AA,AG,GG		0.0479,0.0,0.0324			44967271	4,12332	1992	4176	6168			388910							g.chr22:44967271G>A	BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44967271G>A						LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript								3		+									Silent	SNP	ENST00000605505.1	37	c.274G>A																																																																																					0.567	LINC00207-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468439.1	NR_028409	
CCK	885	broad.mit.edu	37	3	42305011	42305011	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr3:42305011C>T	ENST00000396169.2	-	4	1017	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CCK_ENST00000334681.5_Missense_Mutation_p.E38K|CCK_ENST00000434608.1_Missense_Mutation_p.E38K	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)	p.E38K(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CGGGGCGCCTCCTCTGCCCGC	0.711																																						uc021wwk.1																			1	Substitution - Missense(1)	p.E38K(2)	central_nervous_system(1)	central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(112-114)Gag>Aag		Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.							24.0	29.0	27.0					3																	42305011		2202	4299	6501	SO:0001583	missense	885				axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	g.chr3:42305011C>T		CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"""Endogenous ligands"""	1569	protein-coding gene	gene with protein product	"""prepro-cholecystokinin"", ""cholecystokinin triacontatriapeptide"""	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.112G>A	3.37:g.42305011C>T	ENSP00000379472:p.Glu38Lys					CCK_uc003cld.1_Missense_Mutation_p.E38K|CCK_uc011azk.1_Missense_Mutation_p.E38K	p.E38K	NM_001174138	NP_001167609	P06307	CCKN_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.219)	1	239	-		Ovarian(412;0.0728)	38						Missense_Mutation	SNP	ENST00000396169.2	37	c.112G>A	CCDS2696.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841873	0.32513	.	.	ENSG00000187094	ENST00000396169;ENST00000334681;ENST00000434608	T;T;T	0.22539	1.95;1.95;1.95	4.73	4.73	0.59995	Gastrin/cholecystokinin peptide hormone (1);	0.360476	0.32459	N	0.006064	T	0.42449	0.1203	M	0.77103	2.36	0.09310	N	1	D;P	0.61697	0.99;0.611	P;B	0.62491	0.903;0.257	T	0.30357	-0.9981	10	0.24483	T	0.36	-15.223	14.5849	0.68317	0.0:0.8535:0.1465:0.0	.	38;38	B7Z6Q9;P06307	.;CCKN_HUMAN	K	38	ENSP00000379472:E38K;ENSP00000335657:E38K;ENSP00000409124:E38K	ENSP00000335657:E38K	E	-	1	0	CCK	42280015	0.134000	0.22483	0.825000	0.32803	0.437000	0.31866	2.106000	0.41835	2.619000	0.88677	0.655000	0.94253	GAG		0.711	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343380.1	NM_000729	
MANF	7873	broad.mit.edu	37	3	51425306	51425306	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr3:51425306T>C	ENST00000528157.1	+	3	657	c.361T>C	c.(361-363)Tat>Cat	p.Y121H	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	121					response to unfolded protein (GO:0006986)|vasoconstriction of artery involved in ischemic response to lowering of systemic arterial blood pressure (GO:0002014)	extracellular space (GO:0005615)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						TGAGCTTAAGTATGGTGAGTA	0.458																																						uc003dbc.3																			0				lung(1)|ovary(1)	2						c.(361-363)Tat>Cat		Homo sapiens mesencephalic astrocyte-derived neurotrophic factor (MANF), mRNA.							112.0	110.0	110.0					3																	51425306		1988	4175	6163	SO:0001583	missense	7873				response to unfolded protein	extracellular region	growth factor activity	g.chr3:51425306T>C	M83751	CCDS46836.1, CCDS46836.2	3p21.1	2010-12-09	2009-06-04	2009-06-04	ENSG00000145050	ENSG00000145050			15461	protein-coding gene	gene with protein product		601916	"""arginine-rich, mutated in early stage tumors"""	ARMET		12794311	Standard	NM_006010		Approved	ARP	uc003dbc.3	P55145	OTTHUMG00000156897	ENST00000528157.1:c.361T>C	3.37:g.51425306T>C	ENSP00000432799:p.Tyr121His						p.Y121H	NM_006010	NP_006001	P55145	MANF_HUMAN			2	443	+			121					Q14CX4|Q86U67|Q96IS4	Missense_Mutation	SNP	ENST00000528157.1	37	c.361T>C	CCDS46836.2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552502	0.86127	.	.	ENSG00000145050	ENST00000528157;ENST00000273628	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.88640	2.97	0.80722	D	1	D	0.69078	0.997	D	0.91635	0.999	D	0.87698	0.2558	9	0.87932	D	0	.	16.4101	0.83708	0.0:0.0:0.0:1.0	.	121	P55145	MANF_HUMAN	H	121;124	.	ENSP00000273628:Y124H	Y	+	1	0	MANF	51400346	1.000000	0.71417	0.998000	0.56505	0.656000	0.38851	8.040000	0.89188	2.280000	0.76307	0.460000	0.39030	TAT		0.458	MANF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346490.3	NM_006010	
DKK2	27123	broad.mit.edu	37	4	107847047	107847047	+	Missense_Mutation	SNP	G	G	T	rs374083904		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:107847047G>T	ENST00000285311.3	-	2	987	c.282C>A	c.(280-282)caC>caA	p.H94Q	DKK2_ENST00000513208.1_5'UTR|DKK2_ENST00000510463.1_Missense_Mutation_p.H48Q	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	94	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGATCCTTGGTGGGGACTGT	0.502																																						uc003hyi.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(280-282)caC>caA		Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.		G	GLN/HIS	1,4405	2.1+/-5.4	0,1,2202	180.0	154.0	163.0		282	2.9	1.0	4		163	0,8600		0,0,4300	no	missense	DKK2	NM_014421.2	24	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	94/260	107847047	1,13005	2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107847047G>T	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.282C>A	4.37:g.107847047G>T	ENSP00000285311:p.His94Gln					DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.H94Q	p.H94Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	987	-		Hepatocellular(203;0.217)	94			DKK-type Cys-1.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.282C>A	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	6.635	0.485672	0.12641	2.27E-4	0.0	ENSG00000155011	ENST00000285311;ENST00000510463	T;T	0.40756	1.02;1.02	5.62	2.93	0.34026	Dickkopf, N-terminal cysteine-rich (1);	0.056057	0.85682	D	0.000000	T	0.24470	0.0593	N	0.16743	0.435	0.44316	D	0.997191	P;B	0.39094	0.659;0.129	B;B	0.41988	0.372;0.071	T	0.04242	-1.0966	10	0.10377	T	0.69	-16.8671	7.3372	0.26617	0.2503:0.117:0.6327:0.0	.	94;94	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	Q	94;48	ENSP00000285311:H94Q;ENSP00000423797:H48Q	ENSP00000285311:H94Q	H	-	3	2	DKK2	108066496	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.188000	0.17018	0.395000	0.25257	0.467000	0.42956	CAC		0.502	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
DCHS2	54798	broad.mit.edu	37	4	155305544	155305544	+	Silent	SNP	G	G	A	rs370268335		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:155305544G>A	ENST00000357232.4	-	2	209	c.210C>T	c.(208-210)aaC>aaT	p.N70N	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctggttttgcgttctcttcct	0.507																																						uc003inw.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(208-210)aaC>aaT		Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	234.0	170.0	192.0		,210	-0.9	0.0	4		192	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	DCHS2	NM_001142552.1,NM_017639.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,70/2917	155305544	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155305544G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.210C>T	4.37:g.155305544G>A						DCHS2_uc003inx.2_Intron	p.N70N	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	1	210	-	all_hematologic(180;0.208)	Renal(120;0.0854)	70			Cadherin 1.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.210C>T	CCDS3785.1																																																																																				0.507	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
TENM3	55714	broad.mit.edu	37	4	183713527	183713527	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:183713527C>T	ENST00000511685.1	+	26	5825	c.5702C>T	c.(5701-5703)aCc>aTc	p.T1901I	TENM3_ENST00000406950.2_Missense_Mutation_p.T1901I			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1901					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCTCGCCACACCATGCAGACC	0.547																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(5701-5703)aCc>aTc		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							63.0	69.0	67.0					4																	183713527		2031	4193	6224	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183713527C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5702C>T	4.37:g.183713527C>T	ENSP00000424226:p.Thr1901Ile						p.T1901I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	24	5777	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1901					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5702C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281645	0.80692	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87256	-2.23;-2.23	5.18	5.18	0.71444	.	.	.	.	.	D	0.93406	0.7897	M	0.79475	2.455	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.93244	0.6629	9	0.52906	T	0.07	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	1901	Q9P273	TEN3_HUMAN	I	1901	ENSP00000424226:T1901I;ENSP00000385276:T1901I	ENSP00000385276:T1901I	T	+	2	0	ODZ3	183950521	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.914000	0.69964	2.688000	0.91661	0.591000	0.81541	ACC		0.547	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
GPR98	84059	broad.mit.edu	37	5	89969926	89969926	+	Missense_Mutation	SNP	G	G	A	rs193222107		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:89969926G>A	ENST00000405460.2	+	23	5081	c.4985G>A	c.(4984-4986)cGt>cAt	p.R1662H	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1662	Calx-beta 11. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R1662H(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGTATTTCCGTGTGACATTG	0.393													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17997	0.0		0.0	False		,,,				2504	0.0					uc003kju.3																			1	Substitution - Missense(1)	p.R1662H(2)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(4984-4986)cGt>cAt		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							124.0	115.0	118.0					5																	89969926		1889	4113	6002	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89969926G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4985G>A	5.37:g.89969926G>A	ENSP00000384582:p.Arg1662His					GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	p.R1662H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	22	5081	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1662			Calx-beta 11.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4985G>A	CCDS47246.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	16.82	3.227409	0.58668	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28895	1.59	5.07	3.29	0.37713	Na-Ca exchanger/integrin-beta4 (1);	0.334101	0.34362	N	0.004022	T	0.49167	0.1541	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.40403	-0.9565	10	0.45353	T	0.12	.	9.9027	0.41357	0.222:0.0:0.778:0.0	.	1662	Q8WXG9	GPR98_HUMAN	H	1662	ENSP00000384582:R1662H	ENSP00000296619:R1662H	R	+	2	0	GPR98	90005682	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	1.729000	0.38115	0.658000	0.30925	0.555000	0.69702	CGT		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
PCDHB16	57717	broad.mit.edu	37	5	140568233	140568233	+	IGR	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:140568233G>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.592																																						uc003liw.1																			0											c.(1339-1341)Gcc>Acc		Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.							128.0	128.0	128.0					5																	140568233		2203	4300	6503	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568233G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568233G>A							p.A447T	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1339	+			448			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1339G>A	CCDS4251.1																																																																																				0.592	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
FAT2	2196	broad.mit.edu	37	5	150923883	150923883	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:150923883G>T	ENST00000261800.5	-	9	6817	c.6805C>A	c.(6805-6807)Cct>Act	p.P2269T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2269	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGTGGGAGGGTTATCATTG	0.502																																						uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6805-6807)Cct>Act		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							102.0	101.0	101.0					5																	150923883		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923883G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6805C>A	5.37:g.150923883G>T	ENSP00000261800:p.Pro2269Thr						p.P2269T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	6818	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2269			Cadherin 19.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6805C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735259	0.48939	.	.	ENSG00000086570	ENST00000261800	T	0.22134	1.97	5.68	3.81	0.43845	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.183006	0.39210	N	0.001426	T	0.28599	0.0708	L	0.43646	1.37	0.43230	D	0.99512	D	0.57257	0.979	P	0.51833	0.681	T	0.00931	-1.1510	10	0.33141	T	0.24	.	15.9142	0.79500	0.0:0.3034:0.6966:0.0	.	2269	Q9NYQ8	FAT2_HUMAN	T	2269	ENSP00000261800:P2269T	ENSP00000261800:P2269T	P	-	1	0	FAT2	150904076	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	3.248000	0.51430	0.635000	0.30488	0.561000	0.74099	CCT		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAM71B	153745	broad.mit.edu	37	5	156592924	156592924	+	Missense_Mutation	SNP	C	C	T	rs376135369		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:156592924C>T	ENST00000302938.4	-	1	351	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	86						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACCATGACGTCAGGCAGT	0.542																																						uc003lwn.3																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(256-258)Gtc>Atc		Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.		C	ILE/VAL	0,4406		0,0,2203	102.0	97.0	99.0		256	3.8	0.9	5		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM71B	NM_130899.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	86/606	156592924	1,13005	2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592924C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.256G>A	5.37:g.156592924C>T	ENSP00000305596:p.Val86Ile						p.V86I	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	356	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	86					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.256G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062228	0.36373	0.0	1.16E-4	ENSG00000170613	ENST00000302938	T	0.05855	3.38	4.67	3.8	0.43715	.	0.089662	0.42964	D	0.000640	T	0.09468	0.0233	L	0.52905	1.665	0.30199	N	0.798831	D	0.64830	0.994	P	0.47075	0.536	T	0.05435	-1.0885	10	0.39692	T	0.17	-24.314	9.5994	0.39593	0.0:0.8997:0.0:0.1003	.	86	Q8TC56	FA71B_HUMAN	I	86	ENSP00000305596:V86I	ENSP00000305596:V86I	V	-	1	0	FAM71B	156525502	0.975000	0.34042	0.861000	0.33841	0.060000	0.15804	2.520000	0.45554	1.265000	0.44215	0.563000	0.77884	GTC		0.542	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
HLA-B	3106	broad.mit.edu	37	6	31322411	31322411	+	Splice_Site	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:31322411C>T	ENST00000412585.2	-	6	1072	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	348					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ACCACTTACACGCAGCCTGAG	0.572									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.e6+1		Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.							90.0	86.0	87.0					6																	31322411		2203	4300	6503	SO:0001630	splice_region_variant	3106		Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31322411C>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.1045+1G>A	6.37:g.31322411C>T						HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Splice_Site_p.C228_splice|HLA-C_uc003nti.1_Splice_Site	p.C349_splice	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN			6	1099	-			350					Q29764	Silent	SNP	ENST00000412585.2	37	c.1045_splice	CCDS34394.1																																																																																				0.572	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	Silent
TRAM2	9697	broad.mit.edu	37	6	52370483	52370483	+	Silent	SNP	G	G	A	rs201290806		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:52370483G>A	ENST00000182527.3	-	9	788	c.789C>T	c.(787-789)gcC>gcT	p.A263A	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	263	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TGGCCAGCACGGCAAGGGTGA	0.542																																						uc003paq.3																			0				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13						c.(787-789)gcC>gcT		Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA.							102.0	100.0	101.0					6																	52370483		2203	4300	6503	SO:0001819	synonymous_variant	9697				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	g.chr6:52370483G>A	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.789C>T	6.37:g.52370483G>A						EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_Non-coding_Transcript	p.A263A	NM_012288	NP_036420	Q15035	TRAM2_HUMAN			8	938	-	Lung NSC(77;0.109)		263			TLC.		A8K6T6	Silent	SNP	ENST00000182527.3	37	c.789C>T	CCDS34477.1																																																																																				0.542	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288	
TCP10	6953	broad.mit.edu	37	6	167790118	167790118	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:167790118G>A	ENST00000397829.4	-	5	659	c.492C>T	c.(490-492)ccC>ccT	p.P164P	TCP10_ENST00000366827.2_Silent_p.P164P	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	191						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GACGTCTCCCGGGAGGACTTT	0.493																																						uc003qvv.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(490-492)ccC>ccT		Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.							32.0	31.0	31.0					6																	167790118		1338	2754	4092	SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167790118G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.492C>T	6.37:g.167790118G>A						TCP10_uc003qvu.3_Silent_p.P164P|TCP10_uc003qvw.3_Silent_p.P140P	p.P164P	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	4	704	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	191					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.492C>T	CCDS43527.1																																																																																				0.493	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610	
NXPH1	30010	broad.mit.edu	37	7	8791118	8791118	+	Missense_Mutation	SNP	G	G	C	rs145299363		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:8791118G>C	ENST00000405863.1	+	3	1446	c.535G>C	c.(535-537)Gca>Cca	p.A179P	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.A62P	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	179	IV (linker domain).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ATTTGACTTGGCACAACAAAC	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		22221	0.0		0.001	False		,,,				2504	0.0					uc003srv.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(535-537)Gca>Cca		Homo sapiens neurexophilin 1 (NXPH1), mRNA.							64.0	64.0	64.0					7																	8791118		1874	4103	5977	SO:0001583	missense	30010					extracellular region		g.chr7:8791118G>C	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.535G>C	7.37:g.8791118G>C	ENSP00000384551:p.Ala179Pro					NXPH1_uc011jxh.2_Missense_Mutation_p.A62P	p.A179P	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	2	1446	+		Ovarian(82;0.0628)	179			IV (linker domain).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.535G>C	CCDS47540.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.76	3.211358	0.58343	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	N	0.25647	0.755	0.58432	D	0.999999	B	0.11235	0.004	B	0.20384	0.029	T	0.43540	-0.9385	9	0.38643	T	0.18	-15.4057	20.6208	0.99490	0.0:0.0:1.0:0.0	.	179	P58417	NXPH1_HUMAN	P	179;62	.	ENSP00000384551:A179P	A	+	1	0	NXPH1	8757643	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.300000	0.72776	2.882000	0.98803	0.655000	0.94253	GCA		0.398	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745	
THSD7A	221981	broad.mit.edu	37	7	11422186	11422186	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:11422186G>A	ENST00000423059.4	-	24	4720	c.4469C>T	c.(4468-4470)aCa>aTa	p.T1490I	AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1490					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACCACACTGTTCGGGAAGA	0.418										HNSCC(18;0.044)																												uc021zzo.1																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4468-4470)aCa>aTa		Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.							105.0	101.0	102.0					7																	11422186		1901	4104	6005	SO:0001583	missense	221981					integral to membrane		g.chr7:11422186G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4469C>T	7.37:g.11422186G>A	ENSP00000406482:p.Thr1490Ile	HNSCC(18;0.044)				THSD7A_uc021zzn.1_Missense_Mutation_p.T1488I|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_5'Flank	p.T1490I	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	23	4721	-			1490						Missense_Mutation	SNP	ENST00000423059.4	37	c.4469C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297930	0.40694	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59224	0.28	5.84	5.84	0.93424	.	0.359158	0.35870	N	0.002939	T	0.48429	0.1499	L	0.43152	1.355	0.24000	N	0.996213	B	0.17465	0.022	B	0.13407	0.009	T	0.37888	-0.9686	10	0.42905	T	0.14	.	10.5116	0.44866	0.1435:0.0:0.8565:0.0	.	1490	Q9UPZ6	THS7A_HUMAN	I	1490	ENSP00000406482:T1490I	ENSP00000262042:T1490I	T	-	2	0	THSD7A	11388711	0.863000	0.29885	1.000000	0.80357	0.985000	0.73830	1.859000	0.39418	2.765000	0.95021	0.484000	0.47621	ACA		0.418	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
DNAH11	8701	broad.mit.edu	37	7	21599234	21599234	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:21599234G>A	ENST00000409508.3	+	4	737	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E236K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	236	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGTCAAACGAAAGGATAAT	0.313									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(706-708)Gaa>Aaa		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							64.0	62.0	62.0					7																	21599234		1828	4077	5905	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21599234G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.706G>A	7.37:g.21599234G>A	ENSP00000475939:p.Glu236Lys						p.E236K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			3	737	+			236			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.706G>A		.	.	.	.	.	.	.	.	.	.	G	15.46	2.840870	0.51057	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.95	4.12	0.48240	.	0.344252	0.29594	N	0.011716	T	0.09686	0.0238	N	0.08118	0	0.30292	N	0.790307	P	0.39520	0.676	B	0.32289	0.143	T	0.05683	-1.0870	10	0.66056	D	0.02	.	10.4538	0.44537	0.0736:0.1368:0.7896:0.0	.	236	Q96DT5	DYH11_HUMAN	K	236	ENSP00000330671:E236K	ENSP00000330671:E236K	E	+	1	0	DNAH11	21565759	0.998000	0.40836	0.994000	0.49952	0.802000	0.45316	2.761000	0.47589	1.503000	0.48686	0.563000	0.77884	GAA		0.313	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
GRB10	2887	broad.mit.edu	37	7	50742172	50742172	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:50742172C>G	ENST00000401949.1	-	6	792	c.323G>C	c.(322-324)aGg>aCg	p.R108T	GRB10_ENST00000398810.2_Missense_Mutation_p.R50T|GRB10_ENST00000402497.1_Missense_Mutation_p.R50T|GRB10_ENST00000398812.2_Missense_Mutation_p.R108T|GRB10_ENST00000439599.1_Missense_Mutation_p.R102T|GRB10_ENST00000335866.3_Missense_Mutation_p.R50T|GRB10_ENST00000403097.1_Missense_Mutation_p.R102T|GRB10_ENST00000402578.1_Missense_Mutation_p.R50T|GRB10_ENST00000407526.1_Missense_Mutation_p.R50T|GRB10_ENST00000357271.5_Missense_Mutation_p.R108T|GRB10_ENST00000406641.1_Missense_Mutation_p.R50T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	108					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCGCTGCACCCTCTGCCTCGG	0.657									Russell-Silver syndrome																													uc003tpi.2																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(322-324)aGg>aCg		Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.							37.0	44.0	42.0					7																	50742172		2105	4220	6325	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50742172C>G		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.323G>C	7.37:g.50742172C>G	ENSP00000385770:p.Arg108Thr					GRB10_uc003tph.3_Missense_Mutation_p.R50T|GRB10_uc003tpj.2_Missense_Mutation_p.R108T|GRB10_uc003tpk.2_Missense_Mutation_p.R108T|GRB10_uc010kzb.2_Missense_Mutation_p.R50T|GRB10_uc003tpl.2_Missense_Mutation_p.R102T|GRB10_uc003tpm.2_Missense_Mutation_p.R50T	p.R108T	NM_005311	NP_005302	Q13322	GRB10_HUMAN			2	369	-	Glioma(55;0.08)|all_neural(89;0.245)		108					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.323G>C	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291274	0.40494	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497;ENST00000439044	T;T;D;D;D;T;D;T;D;T;D;T	0.82081	-1.43;-1.43;-1.57;-1.57;-1.57;-1.43;-1.57;-1.46;-1.57;-1.43;-1.57;-0.28	5.57	-1.91	0.07641	.	0.487601	0.25529	N	0.030044	T	0.74313	0.3700	L	0.40543	1.245	0.09310	N	1	B;B;B	0.28055	0.199;0.199;0.126	B;B;B	0.30572	0.117;0.117;0.034	T	0.62604	-0.6819	10	0.40728	T	0.16	-13.0411	13.3061	0.60352	0.0:0.4002:0.0:0.5998	.	102;108;108	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	T	108;102;50;50;50;102;50;108;50;108;50;102	ENSP00000381793:R108T;ENSP00000406716:R102T;ENSP00000338543:R50T;ENSP00000381790:R50T;ENSP00000385189:R50T;ENSP00000385544:R102T;ENSP00000385366:R50T;ENSP00000349818:R108T;ENSP00000385046:R50T;ENSP00000385770:R108T;ENSP00000385748:R50T;ENSP00000413023:R102T	ENSP00000338543:R50T	R	-	2	0	GRB10	50709666	0.035000	0.19736	0.001000	0.08648	0.911000	0.54048	0.091000	0.15046	-0.484000	0.06763	-0.140000	0.14226	AGG		0.657	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1		
PCLO	27445	broad.mit.edu	37	7	82763793	82763793	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:82763793T>C	ENST00000333891.9	-	3	3410	c.3073A>G	c.(3073-3075)Aaa>Gaa	p.K1025E	PCLO_ENST00000423517.2_Missense_Mutation_p.K1025E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGGCTTTTTTTCTGTTTCT	0.408																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3073-3075)Aaa>Gaa		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							90.0	86.0	87.0					7																	82763793		1839	4086	5925	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763793T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3073A>G	7.37:g.82763793T>C	ENSP00000334319:p.Lys1025Glu					PCLO_uc003uhv.2_Missense_Mutation_p.K1025E	p.K1025E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	3362	-			971						Missense_Mutation	SNP	ENST00000333891.9	37	c.3073A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	9.291	1.050511	0.19827	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.76186	-1.0;-1.0	6.07	6.07	0.98685	.	.	.	.	.	T	0.68796	0.3040	L	0.36672	1.1	0.80722	D	1	P;P	0.41848	0.763;0.763	B;B	0.39840	0.163;0.311	T	0.73269	-0.4036	9	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	1025;1025	Q9Y6V0-5;Q9Y6V0-6	.;.	E	971;1025;1025	ENSP00000334319:K1025E;ENSP00000388393:K1025E	ENSP00000334319:K1025E	K	-	1	0	PCLO	82601729	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	2.446000	0.44908	2.326000	0.78906	0.533000	0.62120	AAA		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
RELN	5649	broad.mit.edu	37	7	103270455	103270455	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:103270455C>T	ENST00000428762.1	-	20	2793	c.2634G>A	c.(2632-2634)gaG>gaA	p.E878E	RELN_ENST00000424685.2_Silent_p.E878E|RELN_ENST00000343529.5_Silent_p.E878E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	878					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGAGTGACCTCCACAAGAT	0.408																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(2632-2634)gaG>gaA		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							137.0	126.0	129.0					7																	103270455		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103270455C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2634G>A	7.37:g.103270455C>T						RELN_uc022ajq.1_Silent_p.E878E|RELN_uc010liz.3_Silent_p.E878E	p.E878E	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	19	2794	-			878					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.2634G>A	CCDS47680.1																																																																																				0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
TAS2R39	259285	broad.mit.edu	37	7	142881262	142881262	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:142881262G>A	ENST00000446620.1	+	1	751	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGGGTCCAACGACCCCAGCAT	0.498																																						uc011ksw.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(751-753)Gac>Aac		Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.							150.0	140.0	143.0					7																	142881262		1949	4140	6089	SO:0001583	missense	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142881262G>A	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.751G>A	7.37:g.142881262G>A	ENSP00000405095:p.Asp251Asn						p.D251N	NM_176881	NP_795362	P59534	T2R39_HUMAN			0	751	+	Melanoma(164;0.059)		251					A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	c.751G>A	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102382	0.20632	.	.	ENSG00000236398	ENST00000446620	T	0.01025	5.43	4.45	1.62	0.23740	.	.	.	.	.	T	0.01592	0.0051	L	0.48642	1.525	0.23704	N	0.997061	D	0.58268	0.982	P	0.48815	0.591	T	0.53121	-0.8483	9	0.51188	T	0.08	.	7.6089	0.28118	0.3634:0.0:0.6366:0.0	.	251	P59534	T2R39_HUMAN	N	251	ENSP00000405095:D251N	ENSP00000405095:D251N	D	+	1	0	TAS2R39	142591384	0.669000	0.27502	0.941000	0.38009	0.132000	0.20833	1.391000	0.34475	0.613000	0.30089	-0.133000	0.14855	GAC		0.498	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881	
OR2A5	393046	broad.mit.edu	37	7	143748162	143748162	+	Missense_Mutation	SNP	C	C	T	rs201829543	byFrequency	TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:143748162C>T	ENST00000408906.2	+	1	702	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A223V(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CGCATCCTGGCGGCCATCTTG	0.607																																						uc011ktw.2																			1	Substitution - Missense(1)	p.A223V(2)	large_intestine(1)	cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(667-669)gCg>gTg		Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.							106.0	108.0	107.0					7																	143748162		2017	4179	6196	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748162C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.668C>T	7.37:g.143748162C>T	ENSP00000386208:p.Ala223Val						p.A223V	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			0	668	+	Melanoma(164;0.0783)		223					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.668C>T	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832653	0.02713	.	.	ENSG00000221836	ENST00000408906	T	0.36157	1.27	5.37	-7.37	0.01412	GPCR, rhodopsin-like superfamily (1);	3.036110	0.01925	U	0.040822	T	0.15522	0.0374	N	0.11000	0.08	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13124	-1.0521	10	0.15952	T	0.53	.	5.1497	0.15004	0.1076:0.4826:0.2196:0.1902	.	223	Q96R48	OR2A5_HUMAN	V	223	ENSP00000386208:A223V	ENSP00000386208:A223V	A	+	2	0	OR2A5	143379095	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.985000	0.00660	-0.803000	0.04415	-0.355000	0.07637	GCG		0.607	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1		
TEX15	56154	broad.mit.edu	37	8	30695500	30695500	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:30695500G>A	ENST00000256246.2	-	3	7225	c.7151C>T	c.(7150-7152)aCg>aTg	p.T2384M		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2384					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTTTTTGGCGTTAAATGATT	0.388																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7150-7152)aCg>aTg		Homo sapiens testis expressed 15 (TEX15), mRNA.							165.0	165.0	165.0					8																	30695500		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695500G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7151C>T	8.37:g.30695500G>A	ENSP00000256246:p.Thr2384Met						p.T2384M	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	2	7151	-			2384						Missense_Mutation	SNP	ENST00000256246.2	37	c.7151C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625047	0.28889	.	.	ENSG00000133863	ENST00000256246	T	0.10763	2.84	4.81	3.93	0.45458	.	0.871540	0.09742	N	0.761687	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	P	0.49862	0.929	B	0.36030	0.216	T	0.27739	-1.0065	10	0.87932	D	0	.	9.5987	0.39589	0.1:0.0:0.9:0.0	.	2384	Q9BXT5	TEX15_HUMAN	M	2384	ENSP00000256246:T2384M	ENSP00000256246:T2384M	T	-	2	0	TEX15	30815042	0.977000	0.34250	0.004000	0.12327	0.009000	0.06853	2.132000	0.42083	1.335000	0.45486	0.462000	0.41574	ACG		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
ADAM18	8749	broad.mit.edu	37	8	39502901	39502901	+	Silent	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:39502901T>C	ENST00000265707.5	+	11	999	c.954T>C	c.(952-954)gcT>gcC	p.A318A	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.A294A	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	318	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTATTATAGCTCAACTGCTTG	0.333																																						uc003xni.3																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(952-954)gcT>gcC		Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.							139.0	125.0	130.0					8																	39502901		2203	4300	6503	SO:0001819	synonymous_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39502901T>C	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.954T>C	8.37:g.39502901T>C						ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.A294A	p.A318A	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		10	1009	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	318			Peptidase M12B.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	c.954T>C	CCDS6113.1																																																																																				0.333	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
IL7	3574	broad.mit.edu	37	8	79710323	79710323	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:79710323C>T	ENST00000263851.4	-	2	731	c.131G>A	c.(130-132)aGc>aAc	p.S44N	IL7_ENST00000379113.2_Missense_Mutation_p.S44N|IL7_ENST00000520269.1_Missense_Mutation_p.S44N	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	44					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						TTGATCGATGCTGACCATTAG	0.353																																						uc003ybg.3																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(130-132)aGc>aAc		Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.							151.0	138.0	142.0					8																	79710323		2203	4300	6503	SO:0001583	missense	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79710323C>T	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.131G>A	8.37:g.79710323C>T	ENSP00000263851:p.Ser44Asn					IL7_uc022awh.1_Missense_Mutation_p.S44N|IL7_uc022awi.1_Missense_Mutation_p.S44N|IL7_uc022awj.1_Missense_Mutation_p.S44N|IL7_uc003ybh.3_Intron|IL7_uc003ybi.3_Non-coding_Transcript	p.S44N	NM_000880	NP_000871	P13232	IL7_HUMAN			1	732	-			44					A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	c.131G>A	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253970	0.39896	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000379113	T;T;T	0.46063	0.88;0.88;0.88	5.21	3.27	0.37495	.	0.248224	0.36134	N	0.002768	T	0.25232	0.0613	N	0.20986	0.625	0.32871	D	0.509225	B;B	0.18310	0.024;0.027	B;B	0.20955	0.031;0.032	T	0.23619	-1.0183	9	.	.	.	.	7.9738	0.30143	0.0:0.7972:0.0:0.2028	.	44;44	P13232;Q5FBY9	IL7_HUMAN;.	N	44;44;41;44	ENSP00000263851:S44N;ENSP00000427750:S44N;ENSP00000368408:S44N	.	S	-	2	0	IL7	79872878	0.995000	0.38212	0.991000	0.47740	0.289000	0.27227	0.019000	0.13444	1.323000	0.45263	0.557000	0.71058	AGC		0.353	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1		
GPR20	2843	broad.mit.edu	37	8	142366995	142366995	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:142366995G>A	ENST00000377741.3	-	2	1119	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	343					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGTGAGGGCCGGCACTGAGGA	0.667																																						uc022bby.1																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(1027-1029)gcC>gcT		Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.							45.0	40.0	42.0					8																	142366995		2203	4300	6503	SO:0001819	synonymous_variant	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142366995G>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.1029C>T	8.37:g.142366995G>A						GPR20_uc003ywf.3_Silent_p.A343A	p.A343A	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		0	1029	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		343					Q17R96	Silent	SNP	ENST00000377741.3	37	c.1029C>T	CCDS34949.1																																																																																				0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293	
C9orf131	138724	broad.mit.edu	37	9	35045456	35045456	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr9:35045456A>G	ENST00000312292.5	+	2	2877	c.2830A>G	c.(2830-2832)Aag>Gag	p.K944E	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.K896E|C9orf131_ENST00000354479.5_Missense_Mutation_p.K871E	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	944										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCAGCCAAAAAGAGAGAGCA	0.532																																						uc003zvw.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2830-2832)Aag>Gag		Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.							132.0	135.0	134.0					9																	35045456		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045456A>G	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2830A>G	9.37:g.35045456A>G	ENSP00000308279:p.Lys944Glu					C9orf131_uc003zvu.3_Missense_Mutation_p.K896E|C9orf131_uc003zvv.3_Missense_Mutation_p.K871E|C9orf131_uc003zvx.3_Missense_Mutation_p.K909E	p.K944E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	2859	+	all_epithelial(49;0.22)		944					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2830A>G	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774018	0.49786	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.16743	2.32;2.32;2.33	4.43	3.29	0.37713	.	0.400249	0.21529	N	0.073077	T	0.22044	0.0531	M	0.69823	2.125	0.09310	N	1	P;P;P;P	0.40107	0.539;0.703;0.539;0.539	B;B;B;B	0.43225	0.273;0.412;0.273;0.273	T	0.12426	-1.0548	10	0.66056	D	0.02	0.0431	6.3404	0.21319	0.8879:0.0:0.1121:0.0	.	419;944;871;896	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	E	896;871;944;419	ENSP00000393683:K896E;ENSP00000346472:K871E;ENSP00000308279:K944E	ENSP00000308279:K944E	K	+	1	0	C9orf131	35035456	0.011000	0.17503	0.162000	0.22713	0.065000	0.16274	1.266000	0.33039	0.750000	0.32877	0.460000	0.39030	AAG		0.532	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
COL15A1	1306	broad.mit.edu	37	9	101797331	101797331	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr9:101797331G>A	ENST00000375001.3	+	18	2538	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	705	Collagen-like 2.|Triple-helical region 2 (COL2).		P -> L (in dbSNP:rs41308900).		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGACCCCCGGGGAAAAAGG	0.612																																						uc004azb.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2113-2115)ccG>ccA		Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.							46.0	46.0	46.0					9																	101797331		2202	4299	6501	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101797331G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2115G>A	9.37:g.101797331G>A							p.P705P	NM_001855	NP_001846	P39059	COFA1_HUMAN			17	2321	+		Acute lymphoblastic leukemia(62;0.0562)	705		P -> L (in dbSNP:rs41308900).	Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.2115G>A	CCDS35081.1																																																																																				0.612	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
EIF2S3	1968	broad.mit.edu	37	X	24094874	24094877	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chrX:24094874_24094877delCAAT	ENST00000253039.4	+	12	1644_1647	c.1391_1394delCAAT	c.(1390-1395)acaatcfs	p.TI464fs		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	464					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AGAGGAGTGACAATCAAGCCAACA	0.348																																						uc004dbc.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.(1390-1395)acaatcfs		Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.																																				SO:0001589	frameshift_variant	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24094874_24094877delCAAT	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.1391_1394delCAAT	X.37:g.24094874_24094877delCAAT	ENSP00000253039:p.Thr464fs						p.T464fs	NM_001415	NP_001406	P41091	IF2G_HUMAN			11	1412_1415	+			464					B5BTZ4	Frame_Shift_Del	DEL	ENST00000253039.4	37	c.1391_1394delCAAT	CCDS14210.1																																																																																				0.348	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415	
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					uc004ebi.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gaggac>gac		Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del						p.E221del	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			0	1045_1047	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963	
