#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LUZP1	7798	broad.mit.edu	37	1	23419092	23419092	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:23419092C>A	ENST00000302291.4	-	4	2464	c.1663G>T	c.(1663-1665)Gct>Tct	p.A555S	LUZP1_ENST00000314174.5_Missense_Mutation_p.A555S|LUZP1_ENST00000418342.1_Missense_Mutation_p.A555S|LUZP1_ENST00000374623.3_Missense_Mutation_p.A555S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	555					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GAGTTTGCAGCCTGAGTTACT	0.537																																						uc001bgk.2		NA																	0					0						c.(1663-1665)GCT>TCT		leucine zipper protein 1							104.0	90.0	95.0					1																	23419092		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23419092C>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1663G>T	1.37:g.23419092C>A	ENSP00000303758:p.Ala555Ser					LUZP1_uc010odv.1_Missense_Mutation_p.A555S|LUZP1_uc001bgl.2_Missense_Mutation_p.A555S|LUZP1_uc001bgm.1_Missense_Mutation_p.A555S	p.A555S	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2047	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	555					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1663G>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	8.870	0.949022	0.18356	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15139	2.65;2.65;2.65;2.45	5.73	5.73	0.89815	.	0.444348	0.18988	N	0.125682	T	0.18923	0.0454	L	0.54323	1.7	0.27084	N	0.963003	B;B	0.19583	0.037;0.037	B;B	0.17979	0.02;0.02	T	0.10451	-1.0629	10	0.19590	T	0.45	.	15.369	0.74548	0.1397:0.8603:0.0:0.0	.	555;555	Q86V48-2;Q86V48	.;LUZP1_HUMAN	S	555	ENSP00000393460:A555S;ENSP00000363752:A555S;ENSP00000303758:A555S;ENSP00000313705:A555S	ENSP00000303758:A555S	A	-	1	0	LUZP1	23291679	0.096000	0.21769	0.689000	0.30133	0.263000	0.26337	3.120000	0.50430	2.723000	0.93209	0.650000	0.86243	GCT		0.537	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		4	97	1	0	0.000602214	0.000760489	4	97				
EXTL1	2134	broad.mit.edu	37	1	26349468	26349468	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:26349468C>G	ENST00000374280.3	+	1	1198	c.331C>G	c.(331-333)Cat>Gat	p.H111D		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	111					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGAGACTCATCGCAGGAT	0.577																																						uc001blf.2		NA																	0				central_nervous_system(1)	1						c.(331-333)CAT>GAT		exostoses-like 1							81.0	83.0	83.0					1																	26349468		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349468C>G	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.331C>G	1.37:g.26349468C>G	ENSP00000363398:p.His111Asp						p.H111D	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1198	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	111			Lumenal (Potential).		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.331C>G	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965774	0.18583	.	.	ENSG00000158008	ENST00000374280	D	0.97256	-4.31	5.32	4.4	0.53042	.	0.487586	0.23169	N	0.051156	D	0.94663	0.8279	L	0.51422	1.61	0.20638	N	0.999877	P	0.38335	0.627	B	0.42062	0.374	D	0.90296	0.4326	10	0.62326	D	0.03	-0.001	4.6687	0.12678	0.0:0.6227:0.1957:0.1817	.	111	Q92935	EXTL1_HUMAN	D	111	ENSP00000363398:H111D	ENSP00000363398:H111D	H	+	1	0	EXTL1	26222055	1.000000	0.71417	0.003000	0.11579	0.010000	0.07245	5.762000	0.68809	1.461000	0.47929	-0.165000	0.13383	CAT		0.577	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		5	58	0	0	0	0	5	58				
GBP4	115361	broad.mit.edu	37	1	89655859	89655859	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:89655859C>G	ENST00000355754.6	-	7	1156	c.1059G>C	c.(1057-1059)atG>atC	p.M353I		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	353						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GTTGCTGGGCCATCTGCTGGC	0.602																																						uc001dnb.2		NA																	0					0						c.(1057-1059)ATG>ATC		guanylate binding protein 4							78.0	72.0	74.0					1																	89655859		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89655859C>G	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1059G>C	1.37:g.89655859C>G	ENSP00000359490:p.Met353Ile						p.M353I	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	7	1175	-			353					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1059G>C	CCDS721.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139487	0.37728	.	.	ENSG00000162654	ENST00000355754	T	0.61980	0.06	5.07	4.17	0.49024	Guanylate-binding protein, C-terminal (3);	0.042322	0.85682	D	0.000000	T	0.63674	0.2531	M	0.88570	2.965	0.31645	N	0.647523	P	0.39116	0.66	P	0.46419	0.516	T	0.68006	-0.5523	10	0.56958	D	0.05	.	11.8697	0.52513	0.0:0.9153:0.0:0.0847	.	353	Q96PP9	GBP4_HUMAN	I	353	ENSP00000359490:M353I	ENSP00000359490:M353I	M	-	3	0	GBP4	89428447	0.911000	0.30947	0.998000	0.56505	0.104000	0.19210	2.854000	0.48325	1.521000	0.48983	-0.119000	0.15052	ATG		0.602	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		4	57	0	0	0	0	4	57				
DENND2D	79961	broad.mit.edu	37	1	111742266	111742266	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:111742266T>C	ENST00000357640.4	-	2	451	c.222A>G	c.(220-222)atA>atG	p.I74M	DENND2D_ENST00000473682.1_5'UTR|CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000369752.5_Missense_Mutation_p.I71M	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	74	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GGTAGGTGATTATAGGCTCGT	0.522																																						uc001eak.1		NA																	0				ovary(1)	1						c.(220-222)ATA>ATG		DENN/MADD domain containing 2D							119.0	124.0	122.0					1																	111742266		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111742266T>C		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.222A>G	1.37:g.111742266T>C	ENSP00000350266:p.Ile74Met					DENND2D_uc001eal.1_Missense_Mutation_p.I71M	p.I74M	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	2	422	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	74			UDENN.		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.222A>G	CCDS831.1	.	.	.	.	.	.	.	.	.	.	T	7.756	0.704320	0.15172	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.41400	1.0;1.0	5.73	-11.5	0.00074	uDENN (3);	0.438835	0.26045	N	0.026674	T	0.06371	0.0164	N	0.14661	0.345	0.09310	N	1	B;P	0.34522	0.4;0.455	B;B	0.40444	0.318;0.329	T	0.41716	-0.9493	10	0.35671	T	0.21	-1.2372	5.9315	0.19142	0.0596:0.2313:0.288:0.421	.	71;74	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	M	74;71	ENSP00000350266:I74M;ENSP00000358767:I71M	ENSP00000350266:I74M	I	-	3	3	DENND2D	111543789	0.000000	0.05858	0.020000	0.16555	0.379000	0.30106	-2.125000	0.01317	-4.139000	0.00070	-0.912000	0.02778	ATA		0.522	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		11	156	0	0	0	0	11	156				
SPTA1	6708	broad.mit.edu	37	1	158627412	158627412	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:158627412C>A	ENST00000368147.4	-	19	2840	c.2660G>T	c.(2659-2661)cGa>cTa	p.R887L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	887					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTAGCAGCTCGAGCACGGAG	0.473																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2659-2661)CGA>CTA		spectrin, alpha, erythrocytic 1							169.0	165.0	166.0					1																	158627412		2003	4185	6188	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627412C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2660G>T	1.37:g.158627412C>A	ENSP00000357129:p.Arg887Leu						p.R887L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2859	-	all_hematologic(112;0.0378)		887			Spectrin 9.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2660G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819215	0.50633	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.53	4.53	0.55603	.	0.000000	0.27563	N	0.018812	T	0.27205	0.0667	N	0.20685	0.6	0.40066	D	0.975953	D	0.61080	0.989	D	0.64321	0.924	T	0.04752	-1.0929	10	0.20046	T	0.44	.	7.0171	0.24895	0.0:0.8136:0.0:0.1864	.	887	P02549	SPTA1_HUMAN	L	887	ENSP00000357130:R887L;ENSP00000357129:R887L	ENSP00000357129:R887L	R	-	2	0	SPTA1	156894036	1.000000	0.71417	0.981000	0.43875	0.119000	0.20118	5.035000	0.64158	2.504000	0.84457	0.561000	0.74099	CGA		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	140	1	0	0.00198382	0.00241242	6	140				
ATF6	22926	broad.mit.edu	37	1	161928411	161928411	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:161928411C>G	ENST00000367942.3	+	16	2047	c.1980C>G	c.(1978-1980)caC>caG	p.H660Q		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	660					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AGGCAACCCACGTTGTCAGCA	0.522																																						uc001gbr.2		NA																	0				ovary(2)|skin(1)	3						c.(1978-1980)CAC>CAG		activating transcription factor 6							124.0	119.0	121.0					1																	161928411		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161928411C>G	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1980C>G	1.37:g.161928411C>G	ENSP00000356919:p.His660Gln					ATF6_uc001gbs.2_RNA	p.H660Q	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		16	2047	+	all_hematologic(112;0.156)		660			Lumenal (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1980C>G	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780824	0.31502	.	.	ENSG00000118217	ENST00000367942	T	0.14266	2.52	5.41	-4.51	0.03483	.	0.073745	0.53938	D	0.000041	T	0.02380	0.0073	L	0.40543	1.245	0.31581	N	0.655146	B	0.14438	0.01	B	0.09377	0.004	T	0.31166	-0.9953	9	0.62326	D	0.03	-4.5891	2.18	0.03872	0.1087:0.2471:0.2141:0.4301	.	660	P18850	ATF6A_HUMAN	Q	660	ENSP00000356919:H660Q	ENSP00000356919:H660Q	H	+	3	2	ATF6	160195035	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-1.477000	0.02331	-0.933000	0.03737	-0.145000	0.13849	CAC		0.522	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		5	112	0	0	0	0	5	112				
RYR2	6262	broad.mit.edu	37	1	237777923	237777923	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:237777923G>C	ENST00000366574.2	+	37	5812	c.5495G>C	c.(5494-5496)gGc>gCc	p.G1832A	RYR2_ENST00000360064.6_Missense_Mutation_p.G1830A|RYR2_ENST00000542537.1_Missense_Mutation_p.G1816A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1832	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGATCATGGGCATCTTTCAC	0.502																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5494-5496)GGC>GCC		cardiac muscle ryanodine receptor							139.0	132.0	134.0					1																	237777923		1958	4171	6129	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777923G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5495G>C	1.37:g.237777923G>C	ENSP00000355533:p.Gly1832Ala						p.G1832A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5615	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1832			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5495G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618702	0.87460	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73789	-0.78;-0.78;-0.78	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000009	D	0.86843	0.6030	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87596	0.2494	10	0.87932	D	0	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1832	Q92736	RYR2_HUMAN	A	1832;1830;1816	ENSP00000355533:G1832A;ENSP00000353174:G1830A;ENSP00000443798:G1816A	ENSP00000353174:G1830A	G	+	2	0	RYR2	235844546	1.000000	0.71417	0.963000	0.40424	0.976000	0.68499	9.813000	0.99286	2.665000	0.90641	0.650000	0.86243	GGC		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	160	0	0	0	0	5	160				
TRIM58	25893	broad.mit.edu	37	1	248023998	248023998	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:248023998A>G	ENST00000366481.3	+	2	548	c.500A>G	c.(499-501)aAg>aGg	p.K167R		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	167						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGGGGAAAAAGACTGTCATT	0.478																																						uc001ido.2		NA																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(499-501)AAG>AGG		tripartite motif-containing 58							105.0	106.0	106.0					1																	248023998		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248023998A>G	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.500A>G	1.37:g.248023998A>G	ENSP00000355437:p.Lys167Arg						p.K167R	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		2	548	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	167					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.500A>G	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	7.004	0.555396	0.13436	.	.	ENSG00000162722	ENST00000366481	T	0.05649	3.41	4.02	2.89	0.33648	.	0.233460	0.29853	N	0.011038	T	0.08358	0.0208	L	0.53561	1.675	0.09310	N	1	P	0.36392	0.551	B	0.40602	0.334	T	0.18681	-1.0329	10	0.36615	T	0.2	.	7.9403	0.29955	0.89:0.0:0.11:0.0	.	167	Q8NG06	TRI58_HUMAN	R	167	ENSP00000355437:K167R	ENSP00000355437:K167R	K	+	2	0	TRIM58	246090621	0.998000	0.40836	0.109000	0.21407	0.002000	0.02628	2.076000	0.41548	0.222000	0.20900	-1.042000	0.02369	AAG		0.478	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		5	72	0	0	0	0	5	72				
OR2L8	391190	broad.mit.edu	37	1	248112599	248112599	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr1:248112599C>T	ENST00000357191.3	+	1	440	c.440C>T	c.(439-441)tCt>tTt	p.S147F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATAACAGGGTCTTGGATCATA	0.438																																						uc001idt.1		NA																	0				ovary(1)|skin(1)	2						c.(439-441)TCT>TTT		olfactory receptor, family 2, subfamily L,							284.0	225.0	245.0					1																	248112599		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112599C>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.440C>T	1.37:g.248112599C>T	ENSP00000349719:p.Ser147Phe					OR2L13_uc001ids.2_Intron	p.S147F	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	440	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		147			Helical; Name=4; (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.440C>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	11.90	1.777601	0.31502	.	.	ENSG00000196936	ENST00000357191	T	0.39056	1.1	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31673	U	0.007242	T	0.67487	0.2898	M	0.94021	3.485	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.58405	-0.7642	10	0.87932	D	0	.	8.6971	0.34303	0.0:0.763:0.2369:0.0	.	147	Q8NGY9	OR2L8_HUMAN	F	147	ENSP00000349719:S147F	ENSP00000349719:S147F	S	+	2	0	OR2L8	246179222	0.000000	0.05858	0.043000	0.18650	0.230000	0.25150	0.878000	0.28126	0.905000	0.36596	0.479000	0.44913	TCT		0.438	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			8	167	0	0	0	0	8	167				
PARD3	56288	broad.mit.edu	37	10	34673066	34673066	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr10:34673066C>T	ENST00000374789.3	-	8	1332	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	PARD3_ENST00000374788.3_Missense_Mutation_p.R336K|PARD3_ENST00000544292.1_Missense_Mutation_p.R66K|PARD3_ENST00000374776.1_Missense_Mutation_p.R336K|PARD3_ENST00000346874.4_Missense_Mutation_p.R336K|PARD3_ENST00000374773.1_Missense_Mutation_p.R336K|PARD3_ENST00000374790.3_Missense_Mutation_p.R292K|PARD3_ENST00000350537.4_Missense_Mutation_p.R336K|PARD3_ENST00000545260.1_Missense_Mutation_p.R292K|PARD3_ENST00000545693.1_Missense_Mutation_p.R336K|PARD3_ENST00000340077.5_Missense_Mutation_p.R336K|PARD3_ENST00000374794.3_Missense_Mutation_p.R292K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	336	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGTTCAAATCTTCTATTTCG	0.398																																						uc010qej.1		NA																	0				ovary(1)	1						c.(1006-1008)AGA>AAA		partitioning-defective protein 3 homolog							138.0	122.0	127.0					10																	34673066		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34673066C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1007G>A	10.37:g.34673066C>T	ENSP00000363921:p.Arg336Lys					PARD3_uc010qek.1_Missense_Mutation_p.R336K|PARD3_uc010qel.1_Missense_Mutation_p.R336K|PARD3_uc010qem.1_Missense_Mutation_p.R336K|PARD3_uc010qen.1_Missense_Mutation_p.R336K|PARD3_uc010qeo.1_Missense_Mutation_p.R336K|PARD3_uc010qep.1_Missense_Mutation_p.R292K|PARD3_uc010qeq.1_Missense_Mutation_p.R292K|PARD3_uc001ixo.1_Missense_Mutation_p.R66K|PARD3_uc001ixp.1_Missense_Mutation_p.R201K|PARD3_uc001ixq.1_Missense_Mutation_p.R336K|PARD3_uc001ixr.1_Missense_Mutation_p.R336K|PARD3_uc001ixt.1_Missense_Mutation_p.R157K|PARD3_uc001ixu.1_Missense_Mutation_p.R292K|PARD3_uc001ixs.1_5'UTR	p.R336K	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			8	1007	-		Breast(68;0.0707)	336			PDZ 1.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1007G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936467	0.92458	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	D;D;D;D;D;D;D;D;D;D;D;T	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;1.59	5.98	5.07	0.68467	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	L	0.54323	1.7	0.54753	D	0.999988	D;D;D;D;D;D;D;P;D;D;D;P;D;D	0.76494	0.998;0.968;0.988;0.998;0.988;0.999;0.998;0.951;0.978;0.996;0.999;0.942;0.989;0.984	D;D;D;D;D;D;D;P;P;D;D;P;D;P	0.85130	0.995;0.954;0.992;0.995;0.992;0.997;0.995;0.684;0.766;0.989;0.983;0.835;0.92;0.839	D	0.88748	0.3248	10	0.59425	D	0.04	.	15.6243	0.76840	0.0:0.9334:0.0:0.0666	.	292;292;336;336;336;336;336;336;292;336;336;336;336;66	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.	K	336;292;336;336;336;292;336;292;336;336;336;66	ENSP00000443147:R336K;ENSP00000440857:R292K;ENSP00000363921:R336K;ENSP00000363920:R336K;ENSP00000340591:R336K;ENSP00000363926:R292K;ENSP00000311986:R336K;ENSP00000363922:R292K;ENSP00000363908:R336K;ENSP00000341844:R336K;ENSP00000363905:R336K;ENSP00000444429:R66K	ENSP00000341844:R336K	R	-	2	0	PARD3	34713072	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.652000	0.54439	2.835000	0.97688	0.650000	0.86243	AGA		0.398	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		4	60	0	0	0	0	4	60				
RUFY2	55680	broad.mit.edu	37	10	70141060	70141060	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr10:70141060T>C	ENST00000602465.1	-	11	1136	c.1036A>G	c.(1036-1038)Act>Gct	p.T346A	RUFY2_ENST00000454950.2_Missense_Mutation_p.T288A|RUFY2_ENST00000388768.2_Missense_Mutation_p.T381A|RUFY2_ENST00000399200.2_Missense_Mutation_p.T312A|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	395						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CCTATCAGAGTATCTTGTTTC	0.363																																						uc001job.2		NA																	0				ovary(1)	1						c.(1141-1143)ACT>GCT		RUN and FYVE domain-containing 2 isoform a							224.0	202.0	209.0					10																	70141060		1884	4128	6012	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70141060T>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1036A>G	10.37:g.70141060T>C	ENSP00000473462:p.Thr346Ala					RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.T312A|RUFY2_uc010qiw.1_Missense_Mutation_p.T288A|RUFY2_uc001jod.1_Missense_Mutation_p.T346A	p.T381A	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			11	1468	-			395			Potential.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1141A>G		.	.	.	.	.	.	.	.	.	.	T	16.42	3.118100	0.56505	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.52983	0.64;1.63;1.17	5.29	4.16	0.48862	.	0.051123	0.85682	N	0.000000	T	0.56717	0.2004	L	0.44542	1.39	0.58432	D	0.999999	D;D;B;B	0.61697	0.984;0.99;0.004;0.011	D;D;B;B	0.73380	0.956;0.98;0.011;0.016	T	0.51585	-0.8687	10	0.31617	T	0.26	.	10.9779	0.47478	0.0:0.0731:0.0:0.9269	.	288;346;312;381	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	A	381;312;288	ENSP00000373420:T381A;ENSP00000382151:T312A;ENSP00000404986:T288A	ENSP00000373420:T381A	T	-	1	0	RUFY2	69811066	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	3.072000	0.50049	1.027000	0.39758	0.477000	0.44152	ACT		0.363	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		9	101	0	0	0	0	9	101				
P2RY6	5031	broad.mit.edu	37	11	73008161	73008161	+	Missense_Mutation	SNP	G	G	T	rs527979345		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr11:73008161G>T	ENST00000393590.2	+	2	897	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	P2RY6_ENST00000540342.1_Missense_Mutation_p.G200C|P2RY6_ENST00000393591.1_Missense_Mutation_p.G200C|P2RY6_ENST00000349767.2_Missense_Mutation_p.G200C|P2RY6_ENST00000540124.1_Missense_Mutation_p.G200C|P2RY6_ENST00000393592.2_Missense_Mutation_p.G200C|P2RY6_ENST00000542092.1_Missense_Mutation_p.G200C|P2RY6_ENST00000538328.1_Missense_Mutation_p.G200C	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	200					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CACTGTCATCGGCTTCCTGCT	0.657																																						uc001otm.2		NA																	0				ovary(1)	1						c.(598-600)GGC>TGC		pyrimidinergic receptor P2Y6							104.0	97.0	99.0					11																	73008161		2182	4258	6440	SO:0001583	missense	5031				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73008161G>T		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.598G>T	11.37:g.73008161G>T	ENSP00000377215:p.Gly200Cys					P2RY6_uc001otn.2_Missense_Mutation_p.G200C|P2RY6_uc001oto.2_Missense_Mutation_p.G200C|P2RY6_uc001otp.2_Missense_Mutation_p.G200C|P2RY6_uc001otq.2_Missense_Mutation_p.G200C|P2RY6_uc001otr.2_Missense_Mutation_p.G200C|P2RY6_uc001ots.2_Missense_Mutation_p.G200C	p.G200C	NM_176796	NP_789766	Q15077	P2RY6_HUMAN			4	1003	+			200			Helical; Name=5; (Potential).		Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.598G>T	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480507	0.63849	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000536225;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	4.51	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	M	0.82132	2.575	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.59627	-0.7419	10	0.66056	D	0.02	.	13.9992	0.64421	0.0:0.1527:0.8473:0.0	.	200	Q15077	P2RY6_HUMAN	C	200;200;200;200;200;200;200;39;200;200	ENSP00000443427:G200C;ENSP00000445652:G200C;ENSP00000309771:G200C;ENSP00000377217:G200C;ENSP00000377216:G200C;ENSP00000442551:G200C;ENSP00000377215:G200C;ENSP00000442509:G39C;ENSP00000440770:G200C;ENSP00000442990:G200C	ENSP00000309771:G200C	G	+	1	0	P2RY6	72685809	1.000000	0.71417	0.774000	0.31636	0.729000	0.41735	7.748000	0.85085	1.221000	0.43506	0.561000	0.74099	GGC		0.657	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			16	174	1	0	5.04e-11	6.89e-11	16	174				
ARHGAP20	57569	broad.mit.edu	37	11	110450456	110450456	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr11:110450456C>T	ENST00000260283.4	-	16	3498	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E1036K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E1046K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E1046K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E1036K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E1049K|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E615K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1072					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGGGGTGGCTCTAAGGGTCCT	0.498																																						uc001pkz.1		NA																	0				ovary(3)|kidney(2)	5						c.(3214-3216)GAG>AAG		Rho GTPase activating protein 20							91.0	101.0	98.0					11																	110450456		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450456C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3214G>A	11.37:g.110450456C>T	ENSP00000260283:p.Glu1072Lys					ARHGAP20_uc001pky.1_Missense_Mutation_p.E1049K|ARHGAP20_uc009yyb.1_Missense_Mutation_p.E1036K|ARHGAP20_uc001pla.1_Missense_Mutation_p.E1036K|ARHGAP20_uc001plb.2_Missense_Mutation_p.E615K	p.E1072K	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3499	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	1072					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.3214G>A	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767195	0.69878	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.12147	2.71;2.72;2.74;2.71;2.72;2.72;2.72	5.9	4.98	0.66077	.	0.164045	0.39985	N	0.001212	T	0.15132	0.0365	L	0.60455	1.87	0.19575	N	0.999968	P;B;B	0.38195	0.622;0.256;0.25	B;B;B	0.38194	0.267;0.055;0.117	T	0.21143	-1.0254	10	0.66056	D	0.02	.	7.6219	0.28189	0.0:0.7167:0.1376:0.1457	.	1046;1072;1049	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	K	1072;1046;615;1049;1036;1046;1036	ENSP00000260283:E1072K;ENSP00000349660:E1046K;ENSP00000437905:E615K;ENSP00000432076:E1049K;ENSP00000436319:E1036K;ENSP00000436522:E1046K;ENSP00000431399:E1036K	ENSP00000260283:E1072K	E	-	1	0	ARHGAP20	109955666	0.805000	0.28982	0.048000	0.18961	0.588000	0.36517	2.087000	0.41653	1.518000	0.48934	0.650000	0.86243	GAG		0.498	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		7	159	0	0	0	0	7	159				
PIWIL1	9271	broad.mit.edu	37	12	130831541	130831541	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr12:130831541C>A	ENST00000245255.3	+	6	859	c.587C>A	c.(586-588)aCt>aAt	p.T196N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	196					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATAACGATCACTTTAACAAAT	0.348																																						uc001uik.2		NA																	0				ovary(2)	2						c.(586-588)ACT>AAT		piwi-like 1							127.0	122.0	123.0					12																	130831541		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130831541C>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.587C>A	12.37:g.130831541C>A	ENSP00000245255:p.Thr196Asn					PIWIL1_uc001uij.1_Missense_Mutation_p.T196N	p.T196N	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	6	677	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		196					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.587C>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311638	0.81358	.	.	ENSG00000125207	ENST00000245255;ENST00000540672	T;T	0.09350	2.99;2.99	5.73	5.73	0.89815	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	M	0.79693	2.465	0.80722	D	1	P;P	0.51240	0.84;0.943	B;P	0.60012	0.432;0.867	T	0.01748	-1.1282	10	0.49607	T	0.09	-6.6344	18.8981	0.92432	0.0:1.0:0.0:0.0	.	196;196	Q96J94;Q96J94-2	PIWL1_HUMAN;.	N	196;57	ENSP00000245255:T196N;ENSP00000441695:T57N	ENSP00000245255:T196N	T	+	2	0	PIWIL1	129397494	1.000000	0.71417	0.910000	0.35882	0.514000	0.34195	7.791000	0.85805	2.691000	0.91804	0.650000	0.86243	ACT		0.348	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			5	49	1	0	0.00116845	0.00143865	5	49				
RFXAP	5994	broad.mit.edu	37	13	37399599	37399599	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:37399599A>C	ENST00000255476.2	+	2	769	c.635A>C	c.(634-636)cAa>cCa	p.Q212P	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	212					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		ATTGTTAAACAAAGAACAGGA	0.318																																						uc001uvu.1		NA																	0				ovary(1)	1						c.(634-636)CAA>CCA		regulatory factor X-associated protein							107.0	108.0	108.0					13																	37399599		2203	4297	6500	SO:0001583	missense	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37399599A>C	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.635A>C	13.37:g.37399599A>C	ENSP00000255476:p.Gln212Pro						p.Q212P	NM_000538	NP_000529	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	2	791	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	212					B2R9T8|Q5VZM6|Q8TC40	Missense_Mutation	SNP	ENST00000255476.2	37	c.635A>C	CCDS9359.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321315	0.81580	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.77018	0.4069	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78991	-0.1985	9	0.72032	D	0.01	-14.5064	15.1871	0.73012	1.0:0.0:0.0:0.0	.	212	O00287	RFXAP_HUMAN	P	212	.	ENSP00000255476:Q212P	Q	+	2	0	RFXAP	36297599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.935000	0.87658	2.266000	0.75297	0.533000	0.62120	CAA		0.318	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		4	81	0	0	0	0	4	81				
FREM2	341640	broad.mit.edu	37	13	39358893	39358893	+	Silent	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:39358893C>T	ENST00000280481.7	+	6	6183	c.5967C>T	c.(5965-5967)atC>atT	p.I1989I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1989					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGGAAGAATCGGATCAGAGT	0.448																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(5965-5967)ATC>ATT		FRAS1-related extracellular matrix protein 2							102.0	98.0	99.0					13																	39358893		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39358893C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5967C>T	13.37:g.39358893C>T						FREM2_uc001uww.2_Silent_p.I75I	p.I1989I	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	6	6276	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1989			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.5967C>T	CCDS31960.1																																																																																				0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	39	0	0	0	0	4	39				
HNRNPA1L2	144983	broad.mit.edu	37	13	53217477	53217477	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:53217477A>T	ENST00000357495.2	+	1	910	c.850A>T	c.(850-852)Aga>Tga	p.R284*	HNRNPA1L2_ENST00000342657.3_Nonsense_Mutation_p.R284*|HNRNPA1L2_ENST00000398039.1_Nonsense_Mutation_p.R284*			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	284	Gly-rich.|Nuclear targeting sequence. {ECO:0000250}.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						TTTTGGAGGCAGAAGCTCTGG	0.478																																						uc001vgx.1		NA																	0					0						c.(850-852)AGA>TGA		heterogeneous nuclear ribonucleoprotein A1-like							42.0	51.0	48.0					13																	53217477		1538	2910	4448	SO:0001587	stop_gained	144983				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	g.chr13:53217477A>T		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.850A>T	13.37:g.53217477A>T	ENSP00000350090:p.Arg284*					HNRNPA1L2_uc001vgy.1_Nonsense_Mutation_p.R284*|HNRNPA1L2_uc001vgz.1_Nonsense_Mutation_p.R284*	p.R284*	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN			7	1923	+			284			Nuclear targeting sequence (By similarity).|Gly-rich.		Q5TBS2	Nonsense_Mutation	SNP	ENST00000357495.2	37	c.850A>T	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	a	13.77	2.336171	0.41398	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	.	.	.	0.352	0.352	0.16051	.	0.000000	0.44097	U	0.000486	.	.	.	.	.	.	0.54753	D	0.999982	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0981	0.14745	0.9998:0.0:2.0E-4:0.0	.	.	.	.	X	284	.	ENSP00000341285:R284X	R	+	1	2	HNRNPA1L2	52115478	0.012000	0.17670	0.975000	0.42487	0.187000	0.23431	-0.000000	0.12993	0.382000	0.24878	0.076000	0.15429	AGA		0.478	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		5	101	0	0	0	0	5	101				
CHAMP1	283489	broad.mit.edu	37	13	115090169	115090169	+	Silent	SNP	A	A	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr13:115090169A>T	ENST00000361283.1	+	3	1161	c.852A>T	c.(850-852)tcA>tcT	p.S284S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	284	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CATCCCCTTCAGAGTCTCCTG	0.617																																						uc010ahb.2		NA																	0				ovary(2)	2						c.(850-852)TCA>TCT		zinc finger protein 828							55.0	64.0	61.0					13																	115090169		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090169A>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.852A>T	13.37:g.115090169A>T						ZNF828_uc001vuv.2_Silent_p.S284S|ZNF828_uc010tko.1_Silent_p.S284S	p.S284S	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	1181	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	284			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.852A>T	CCDS9545.1																																																																																				0.617	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		5	73	0	0	0	0	5	73				
MYH6	4624	broad.mit.edu	37	14	23863348	23863348	+	Missense_Mutation	SNP	G	G	T	rs201193346	byFrequency	TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr14:23863348G>T	ENST00000356287.3	-	20	2643	c.2614C>A	c.(2614-2616)Cgc>Agc	p.R872S	MYH6_ENST00000405093.3_Missense_Mutation_p.R872S			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	872					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R872C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTCCTTGCGGCGAGCCTCG	0.592																																						uc001wjv.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(2614-2616)CGC>AGC		myosin heavy chain 6							107.0	89.0	95.0					14																	23863348		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23863348G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2614C>A	14.37:g.23863348G>T	ENSP00000348634:p.Arg872Ser						p.R872S	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	21	2681	-	all_cancers(95;2.54e-05)		872			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2614C>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	17.70	3.454964	0.63290	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.83250	-1.7;-1.7	4.57	4.57	0.56435	.	.	.	.	.	D	0.88962	0.6580	M	0.90145	3.09	0.46416	D	0.999039	P	0.40266	0.71	P	0.47430	0.547	D	0.91168	0.4966	9	0.87932	D	0	.	13.534	0.61638	0.0:0.0:0.7708:0.2292	.	872	P13533	MYH6_HUMAN	S	872	ENSP00000386041:R872S;ENSP00000348634:R872S	ENSP00000348634:R872S	R	-	1	0	MYH6	22933188	0.928000	0.31464	1.000000	0.80357	0.993000	0.82548	2.038000	0.41184	2.274000	0.75844	0.555000	0.69702	CGC		0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			9	81	1	0	1.05e-14	1.47e-14	9	81				
NID2	22795	broad.mit.edu	37	14	52508964	52508964	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr14:52508964C>T	ENST00000216286.5	-	7	1683	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	NID2_ENST00000541773.1_Missense_Mutation_p.D509N	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	562	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCTCTGCCATCATTGCCCACG	0.597																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1684-1686)GAT>AAT		nidogen 2 precursor							130.0	134.0	133.0					14																	52508964		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52508964C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1684G>A	14.37:g.52508964C>T	ENSP00000216286:p.Asp562Asn					NID2_uc010tqs.1_Missense_Mutation_p.D562N|NID2_uc010tqt.1_Missense_Mutation_p.D562N|NID2_uc001wzp.2_Missense_Mutation_p.D562N	p.D562N	NM_007361	NP_031387	Q14112	NID2_HUMAN			7	1918	-	Breast(41;0.0639)|all_epithelial(31;0.123)		562			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1684G>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433587	0.96150	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.33216	1.42;1.42	6.17	6.17	0.99709	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.042507	0.85682	D	0.000000	T	0.63721	0.2535	M	0.85630	2.765	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.982;0.999;1.0;0.992	T	0.64732	-0.6338	10	0.62326	D	0.03	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	156;509;564;562	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	N	562;156;509;564	ENSP00000216286:D562N;ENSP00000443730:D509N	ENSP00000216286:D562N	D	-	1	0	NID2	51578714	1.000000	0.71417	0.728000	0.30774	0.765000	0.43378	5.710000	0.68392	2.941000	0.99782	0.655000	0.94253	GAT		0.597	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			16	198	0	0	0	0	16	198				
FGF7	2252	broad.mit.edu	37	15	49776562	49776562	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr15:49776562A>G	ENST00000267843.4	+	4	1057	c.446A>G	c.(445-447)aAc>aGc	p.N149S	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	149					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AACCATTACAACACATATGCA	0.328																																						uc001zxn.2		NA																	0					0						c.(445-447)AAC>AGC		fibroblast growth factor 7 precursor	Palifermin(DB00039)						49.0	49.0	49.0					15																	49776562		2034	3874	5908	SO:0001583	missense	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776562A>G	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.446A>G	15.37:g.49776562A>G	ENSP00000267843:p.Asn149Ser					C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.2_Intron	p.N149S	NM_002009	NP_002000	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	975	+		all_lung(180;0.00391)	149					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.446A>G	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297159	0.40694	.	.	ENSG00000140285	ENST00000267843	D	0.83250	-1.7	5.92	4.77	0.60923	.	0.093037	0.64402	D	0.000001	T	0.81626	0.4862	.	.	.	0.80722	D	1	P	0.41366	0.747	B	0.41860	0.368	T	0.81795	-0.0769	9	0.66056	D	0.02	.	12.8405	0.57800	0.8635:0.1365:0.0:0.0	.	149	P21781	FGF7_HUMAN	S	149	ENSP00000267843:N149S	ENSP00000267843:N149S	N	+	2	0	FGF7	47563854	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.299000	0.78831	1.026000	0.39733	0.528000	0.53228	AAC		0.328	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	47	0	0	0	0	3	47				
SLC24A1	9187	broad.mit.edu	37	15	65936825	65936825	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr15:65936825A>G	ENST00000261892.6	+	5	2401	c.2114A>G	c.(2113-2115)cAg>cGg	p.Q705R	SLC24A1_ENST00000544319.2_Intron|SLC24A1_ENST00000537259.1_Missense_Mutation_p.Q687R|SLC24A1_ENST00000399033.4_Missense_Mutation_p.Q705R|SLC24A1_ENST00000546330.1_Missense_Mutation_p.Q687R|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Missense_Mutation_p.Q687R	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	705					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCCCAACCCCAGGCCAAAGCA	0.547																																						uc010ujf.1		NA																	0					0						c.(2113-2115)CAG>CGG		solute carrier family 24							75.0	92.0	87.0					15																	65936825		1981	4158	6139	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65936825A>G	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2114A>G	15.37:g.65936825A>G	ENSP00000261892:p.Gln705Arg					SLC24A1_uc010ujd.1_Missense_Mutation_p.Q687R|SLC24A1_uc010uje.1_Missense_Mutation_p.Q687R|SLC24A1_uc010ujg.1_Missense_Mutation_p.Q705R|SLC24A1_uc010ujh.1_Missense_Mutation_p.Q687R|SLC24A1_uc010uji.1_Missense_Mutation_p.Q32R	p.Q705R	NM_004727	NP_004718	O60721	NCKX1_HUMAN			5	2401	+			705			Cytoplasmic (Potential).		O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.2114A>G	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.910020	0.33721	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000399033;ENST00000546330	T;T;T;T;T	0.65178	0.08;-0.12;-0.14;-0.12;-0.14	4.69	2.32	0.28847	.	.	.	.	.	T	0.56232	0.1971	M	0.68952	2.095	0.19575	N	0.999961	B;B;B;B;P;P	0.51351	0.012;0.123;0.075;0.075;0.944;0.907	B;B;B;B;P;B	0.45037	0.004;0.038;0.017;0.017;0.467;0.276	T	0.44892	-0.9298	9	0.21540	T	0.41	.	3.9968	0.09561	0.6736:0.2177:0.1086:0.0	.	32;687;705;705;687;687	B4DUG1;O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;.;NCKX1_HUMAN;.;.	R	687;705;687;705;687	ENSP00000439693:Q687R;ENSP00000261892:Q705R;ENSP00000341837:Q687R;ENSP00000381991:Q705R;ENSP00000439190:Q687R	ENSP00000261892:Q705R	Q	+	2	0	SLC24A1	63723879	1.000000	0.71417	0.479000	0.27329	0.670000	0.39368	2.089000	0.41672	0.841000	0.35020	0.459000	0.35465	CAG		0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		2	6	0	0	0	0	2	6				
CERS3	204219	broad.mit.edu	37	15	101016321	101016321	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr15:101016321T>A	ENST00000394113.1	-	10	1269	c.579A>T	c.(577-579)ttA>ttT	p.L193F	CERS3_ENST00000538112.2_Missense_Mutation_p.L193F|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.L193F			Q8IU89	CERS3_HUMAN	ceramide synthase 3	193	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CAAGTCTAAATAACAGAGACC	0.363																																						uc002bvz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(577-579)TTA>TTT		LAG1 longevity assurance homolog 3							69.0	77.0	75.0					15																	101016321		2203	4298	6501	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101016321T>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.579A>T	15.37:g.101016321T>A	ENSP00000377672:p.Leu193Phe					LASS3_uc002bwa.2_Missense_Mutation_p.L204F|LASS3_uc002bwb.2_Missense_Mutation_p.L193F	p.L193F	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		9	1081	-	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		193			Helical; (Potential).|TLC.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.579A>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207396	0.58343	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.87650	-2.28;-2.28	5.36	-2.65	0.06095	TRAM/LAG1/CLN8 homology domain (3);	0.469368	0.21918	N	0.067211	D	0.84853	0.5564	L	0.55017	1.72	0.42417	D	0.992625	P	0.42518	0.782	P	0.46585	0.521	T	0.81927	-0.0709	10	0.72032	D	0.01	-0.8791	11.8403	0.52350	0.0:0.7263:0.1276:0.1461	.	193	Q8IU89	CERS3_HUMAN	F	193;204;193	ENSP00000284382:L193F;ENSP00000437640:L193F	ENSP00000284382:L193F	L	-	3	2	CERS3	98833844	0.974000	0.33945	0.036000	0.18154	0.633000	0.38033	0.016000	0.13377	-0.587000	0.05890	-0.326000	0.08463	TTA		0.363	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		7	97	0	0	0	0	7	97				
GPR139	124274	broad.mit.edu	37	16	20043921	20043921	+	Silent	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr16:20043921G>C	ENST00000570682.1	-	2	498	c.198C>G	c.(196-198)ctC>ctG	p.L66L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	66					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						CGAGTGCCAAGAGATAGTTGT	0.468																																						uc002dgu.1		NA																	0				ovary(2)	2						c.(196-198)CTC>CTG		G protein-coupled receptor 139							69.0	70.0	69.0					16																	20043921		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043921G>C	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.198C>G	16.37:g.20043921G>C						GPR139_uc010vaw.1_5'UTR	p.L66L	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	360	-			66			Helical; Name=2; (Potential).		A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.198C>G	CCDS32398.1																																																																																				0.468	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		3	44	0	0	0	0	3	44				
TP53	7157	broad.mit.edu	37	17	7578449	7578450	+	Missense_Mutation	DNP	CC	CC	AA	rs193920817		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:7578449_7578450CC>AA	ENST00000269305.4	-	5	669_670	c.480_481GG>TT	c.(478-483)atGGcc>atTTcc	p.160_161MA>IS	TP53_ENST00000445888.2_Missense_Mutation_p.160_161MA>IS|TP53_ENST00000413465.2_Missense_Mutation_p.160_161MA>IS|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.160_161MA>IS|TP53_ENST00000420246.2_Missense_Mutation_p.160_161MA>IS|TP53_ENST00000359597.4_Missense_Mutation_p.160_161MA>IS	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	160	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> T (in a sporadic cancer; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A161T(54)|p.0?(8)|p.M160I(6)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157fs*9(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.A161fs*20(1)|p.V157_M160delVRAM(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGTAGATGGCCATGGCGCGGA	0.634		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		104	Substitution - Missense(69)|Deletion - Frameshift(11)|Deletion - In frame(10)|Whole gene deletion(8)|Complex - frameshift(3)|Insertion - Frameshift(2)|Complex - compound substitution(1)	p.A161T(44)|p.0?(7)|p.M160I(6)|p.M160K(4)|p.M160V(4)|p.M160L(3)|p.M160fs*10(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.M160T(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.A161fs*20(1)|p.V157_M160delVRAM(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)	lung(19)|large_intestine(14)|urinary_tract(10)|stomach(7)|central_nervous_system(7)|upper_aerodigestive_tract(6)|oesophagus(6)|pancreas(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|bone(4)|liver(4)|breast(3)|ovary(3)|skin(2)|thyroid(1)|meninges(1)|peritoneum(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(478-483)ATGGCC>ATTTCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578449_7578450CC>AA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.480_481delinsAA	17.37:g.7578449_7578450delinsAA	ENSP00000269305:p.M160_A161delinsIS	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.160_161MA>IS|TP53_uc002gih.2_Missense_Mutation_p.160_161MA>IS|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.28_29MA>IS|TP53_uc010cng.1_Missense_Mutation_p.28_29MA>IS|TP53_uc002gii.1_Missense_Mutation_p.28_29MA>IS|TP53_uc010cnh.1_Missense_Mutation_p.160_161MA>IS|TP53_uc010cni.1_Missense_Mutation_p.160_161MA>IS|TP53_uc002gij.2_Missense_Mutation_p.160_161MA>IS|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.67_68MA>IS|TP53_uc002gio.2_Missense_Mutation_p.28_29MA>IS|TP53_uc010vug.1_Missense_Mutation_p.121_122MA>IS	p.160_161MA>IS	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	674_675	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	160_161		MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	DNP	ENST00000269305.4	37	c.480_481GG>TT	CCDS11118.1																																																																																				0.634	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	70	0	0	0	0	6	70				
SLC47A1	55244	broad.mit.edu	37	17	19470127	19470127	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:19470127G>T	ENST00000270570.4	+	13	1217	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	SLC47A1_ENST00000395585.1_Missense_Mutation_p.Q377H|SLC47A1_ENST00000436810.2_Missense_Mutation_p.Q354H|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Missense_Mutation_p.Q182H|SLC47A1_ENST00000457293.1_Missense_Mutation_p.Q377H|RP11-1113L8.1_ENST00000574267.1_RNA	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	377					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TGGTGGCTCAGGTGGTTCCAA	0.418																																						uc002gvy.1		NA																	0					0						c.(1129-1131)CAG>CAT		solute carrier family 47, member 1							228.0	198.0	208.0					17																	19470127		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19470127G>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1131G>T	17.37:g.19470127G>T	ENSP00000270570:p.Gln377His					SLC47A1_uc002gvx.2_Missense_Mutation_p.Q377H|SLC47A1_uc010vyz.1_Missense_Mutation_p.Q354H|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.Q182H|SLC47A1_uc010vza.1_Missense_Mutation_p.Q89H|SLC47A1_uc010vzb.1_Missense_Mutation_p.Q111H|SLC47A1_uc010vzc.1_Missense_Mutation_p.Q49H	p.Q377H	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			13	1217	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		377			Helical; (Potential).		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.1131G>T	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188784	0.38609	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.37	2.28	0.28536	.	0.503869	0.23734	N	0.045097	T	0.25382	0.0617	L	0.46741	1.465	0.80722	D	1	B;B;B;B;B	0.27140	0.024;0.169;0.059;0.041;0.054	B;B;B;B;B	0.30401	0.115;0.081;0.115;0.081;0.052	T	0.03910	-1.0993	10	0.37606	T	0.19	-13.4477	7.5675	0.27887	0.346:0.0:0.654:0.0	.	111;354;111;377;377	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	H	354;377;377;377;111;89	ENSP00000407155:Q354H;ENSP00000270570:Q377H;ENSP00000415586:Q377H;ENSP00000378951:Q377H	ENSP00000270570:Q377H	Q	+	3	2	SLC47A1	19410719	0.851000	0.29673	0.999000	0.59377	0.993000	0.82548	0.559000	0.23485	0.242000	0.21303	0.655000	0.94253	CAG		0.418	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		5	57	1	0	0.00116845	0.00143865	5	57				
SSH2	85464	broad.mit.edu	37	17	27958126	27958126	+	Silent	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:27958126C>T	ENST00000269033.3	-	15	4156	c.4005G>A	c.(4003-4005)caG>caA	p.Q1335Q	SSH2_ENST00000540801.1_Silent_p.Q1362Q|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1335					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGCTTGCTCTGCACAATAC	0.507																																						uc002heo.1		NA																	0				skin(2)	2						c.(4003-4005)CAG>CAA		slingshot 2							63.0	55.0	58.0					17																	27958126		2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958126C>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.4005G>A	17.37:g.27958126C>T						SSH2_uc010wbh.1_Silent_p.Q1362Q	p.Q1335Q	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	4005	-			1335					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.4005G>A	CCDS11253.1																																																																																				0.507	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		4	54	0	0	0	0	4	54				
PLEKHM1	9842	broad.mit.edu	37	17	43522926	43522926	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:43522926T>G	ENST00000430334.3	-	9	2880	c.2747A>C	c.(2746-2748)cAc>cCc	p.H916P	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.H827P|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	916					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCCAATGAGGTGCATCCGCTC	0.617																																						uc002ija.2		NA																	0					0						c.(2746-2748)CAC>CCC		pleckstrin homology domain containing, family M							65.0	62.0	63.0					17																	43522926		2202	4299	6501	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43522926T>G	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2747A>C	17.37:g.43522926T>G	ENSP00000389913:p.His916Pro					PLEKHM1_uc010wjm.1_Missense_Mutation_p.H888P|PLEKHM1_uc002ijb.2_Missense_Mutation_p.H391P|PLEKHM1_uc010wjn.1_Missense_Mutation_p.H865P	p.H916P	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			9	2917	-	Renal(3;0.0405)		916					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.2747A>C	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814485	0.32053	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.63913	-0.07;-0.07	4.59	2.09	0.27110	.	0.775970	0.12301	N	0.481076	T	0.50257	0.1605	L	0.43152	1.355	0.35636	D	0.810569	B;P	0.38642	0.396;0.641	B;B	0.37888	0.192;0.26	T	0.50101	-0.8867	10	0.30854	T	0.27	.	7.0076	0.24846	0.0:0.2335:0.0:0.7665	.	827;916	F8W648;Q9Y4G2	.;PKHM1_HUMAN	P	916;865;827	ENSP00000389913:H916P;ENSP00000414352:H827P	ENSP00000414352:H827P	H	-	2	0	PLEKHM1	40878709	0.000000	0.05858	1.000000	0.80357	0.903000	0.53119	-1.096000	0.03353	0.266000	0.21894	0.397000	0.26171	CAC		0.617	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		6	73	0	0	0	0	6	73				
PLEKHM1	9842	broad.mit.edu	37	17	43522928	43522928	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:43522928C>A	ENST00000430334.3	-	9	2878	c.2745G>T	c.(2743-2745)atG>atT	p.M915I	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.M826I|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	915					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CAATGAGGTGCATCCGCTCCA	0.612																																						uc002ija.2		NA																	0					0						c.(2743-2745)ATG>ATT		pleckstrin homology domain containing, family M							65.0	63.0	64.0					17																	43522928		2202	4299	6501	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43522928C>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2745G>T	17.37:g.43522928C>A	ENSP00000389913:p.Met915Ile					PLEKHM1_uc010wjm.1_Missense_Mutation_p.M887I|PLEKHM1_uc002ijb.2_Missense_Mutation_p.M390I|PLEKHM1_uc010wjn.1_Missense_Mutation_p.M864I	p.M915I	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			9	2915	-	Renal(3;0.0405)		915					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.2745G>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688903	0.68271	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.65178	-0.13;-0.14	4.59	4.59	0.56863	.	0.047600	0.85682	D	0.000000	T	0.60663	0.2286	M	0.72118	2.19	0.58432	D	0.999999	P;P	0.43662	0.814;0.555	B;B	0.36989	0.212;0.238	T	0.70153	-0.4950	10	0.72032	D	0.01	.	15.3251	0.74154	0.0:1.0:0.0:0.0	.	826;915	F8W648;Q9Y4G2	.;PKHM1_HUMAN	I	915;864;826	ENSP00000389913:M915I;ENSP00000414352:M826I	ENSP00000414352:M826I	M	-	3	0	PLEKHM1	40878711	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.779000	0.75057	2.553000	0.86117	0.485000	0.47835	ATG		0.612	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		6	75	1	0	0.00448238	0.00535169	6	75				
CASKIN2	57513	broad.mit.edu	37	17	73499583	73499583	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr17:73499583G>T	ENST00000321617.3	-	17	2292	c.1706C>A	c.(1705-1707)gCa>gAa	p.A569E	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A487E	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	569	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCCCAGTGCACACAGCCA	0.642																																						uc002joc.2		NA																	0				pancreas(1)	1						c.(1705-1707)GCA>GAA		cask-interacting protein 2 isoform a							31.0	30.0	30.0					17																	73499583		2200	4291	6491	SO:0001583	missense	57513					cytoplasm		g.chr17:73499583G>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1706C>A	17.37:g.73499583G>T	ENSP00000325355:p.Ala569Glu					CASKIN2_uc010wsc.1_Missense_Mutation_p.A487E	p.A569E	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2256	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		569			SAM 2.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.1706C>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537464	0.65085	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.49720	0.77;0.77	4.79	3.82	0.43975	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.46442	D	0.000293	T	0.46580	0.1400	L	0.60904	1.88	0.80722	D	1	P	0.41748	0.761	P	0.44359	0.447	T	0.44003	-0.9356	10	0.51188	T	0.08	.	8.4422	0.32822	0.0791:0.0:0.7686:0.1523	.	569	Q8WXE0	CSKI2_HUMAN	E	569;487	ENSP00000325355:A569E;ENSP00000406963:A487E	ENSP00000325355:A569E	A	-	2	0	CASKIN2	71011178	0.996000	0.38824	0.959000	0.39883	0.990000	0.78478	3.293000	0.51779	1.130000	0.42092	0.655000	0.94253	GCA		0.642	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		4	41	1	0	1.02e-07	1.38e-07	4	41				
ALPK2	115701	broad.mit.edu	37	18	56203268	56203268	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr18:56203268T>C	ENST00000361673.3	-	5	4364	c.4151A>G	c.(4150-4152)gAt>gGt	p.D1384G	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1384						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGCAGTGTGATCCATCTTGAG	0.428																																						uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(4150-4152)GAT>GGT		heart alpha-kinase							107.0	106.0	107.0					18																	56203268		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203268T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4151A>G	18.37:g.56203268T>C	ENSP00000354991:p.Asp1384Gly					ALPK2_uc002lhk.1_Missense_Mutation_p.D715G	p.D1384G	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	4365	-			1384					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.4151A>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	t	15.13	2.742173	0.49151	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	5.77	-11.5	0.00074	.	2.619140	0.01166	N	0.006750	T	0.28699	0.0711	L	0.48642	1.525	0.09310	N	1	B;B	0.20988	0.05;0.003	B;B	0.18561	0.022;0.003	T	0.04752	-1.0929	10	0.25106	T	0.35	0.2305	7.0916	0.25287	0.0826:0.1917:0.5334:0.1922	.	1379;1384	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	G	1384	ENSP00000354991:D1384G	ENSP00000354991:D1384G	D	-	2	0	ALPK2	54354248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.018000	0.01444	-1.695000	0.01423	-0.470000	0.05040	GAT		0.428	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	118	0	0	0	0	4	118				
THEG	51298	broad.mit.edu	37	19	371324	371324	+	Splice_Site	SNP	T	T	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:371324T>A	ENST00000342640.4	-	6	678		c.e6-2		THEG_ENST00000346878.2_Splice_Site	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein						cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGTCGTCCTGGGGGAGGTC	0.582																																						uc002lol.2		NA																	0				ovary(1)	1						c.e6-1		Theg homolog isoform 1							84.0	91.0	88.0					19																	371324		2203	4300	6503	SO:0001630	splice_region_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:371324T>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.636-2A>T	19.37:g.371324T>A						THEG_uc002lom.2_Splice_Site_p.R188_splice	p.R212_splice	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	675	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)						A6NMJ8	Splice_Site	SNP	ENST00000342640.4	37	c.636_splice	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977955	0.34942	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9231	0.41476	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	THEG	322324	0.970000	0.33590	0.719000	0.30619	0.011000	0.07611	2.941000	0.49011	1.914000	0.55421	0.533000	0.62120	.		0.582	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		Intron	6	163	0	0	0	0	6	163				
STXBP2	6813	broad.mit.edu	37	19	7709561	7709561	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:7709561T>C	ENST00000221283.5	+	14	1200	c.1169T>C	c.(1168-1170)gTt>gCt	p.V390A	STXBP2_ENST00000441779.2_Missense_Mutation_p.V401A|STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000414284.2_Missense_Mutation_p.V387A	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	390					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AAGCTGATCGTTCCGGTGCTG	0.652																																						uc002mha.3		NA																	0				central_nervous_system(1)	1						c.(1168-1170)GTT>GCT		syntaxin binding protein 2 isoform a							74.0	53.0	60.0					19																	7709561		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7709561T>C	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1169T>C	19.37:g.7709561T>C	ENSP00000221283:p.Val390Ala					STXBP2_uc002mhb.3_Missense_Mutation_p.V387A|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.V401A|STXBP2_uc010dvk.2_Missense_Mutation_p.V358A|STXBP2_uc002mhc.3_Missense_Mutation_p.V158A|STXBP2_uc002mhe.1_Missense_Mutation_p.V18A	p.V390A	NM_006949	NP_008880	Q15833	STXB2_HUMAN			14	1214	+			390					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1169T>C	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028199	0.75390	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.80480	-1.38;-1.38;-1.38	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000001	D	0.87341	0.6153	M	0.79475	2.455	0.80722	D	1	D;D;B;D;D	0.69078	0.997;0.995;0.447;0.994;0.995	D;D;B;P;D	0.63957	0.92;0.92;0.316;0.869;0.92	D	0.88561	0.3123	10	0.87932	D	0	-11.1855	10.9608	0.47385	0.0:0.0:0.0:1.0	.	401;401;356;387;390	E7EQD5;B4E175;B4DY46;Q15833-2;Q15833	.;.;.;.;STXB2_HUMAN	A	390;387;401;390	ENSP00000221283:V390A;ENSP00000409471:V387A;ENSP00000413606:V401A	ENSP00000221283:V390A	V	+	2	0	STXBP2	7615561	1.000000	0.71417	0.698000	0.30274	0.625000	0.37756	7.799000	0.85936	1.698000	0.51180	0.482000	0.46254	GTT		0.652	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		4	53	0	0	0	0	4	53				
HRC	3270	broad.mit.edu	37	19	49657229	49657229	+	Silent	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:49657229G>C	ENST00000252825.4	-	1	1452	c.1266C>G	c.(1264-1266)gtC>gtG	p.V422V	HRC_ENST00000595625.1_Silent_p.V422V	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	422					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCTCCCTGGGGACTCTGTGGT	0.537																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NA																	0				ovary(1)	1						c.(1264-1266)GTC>GTG		histidine rich calcium binding protein							108.0	105.0	106.0					19																	49657229		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657229G>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1266C>G	19.37:g.49657229G>C							p.V422V	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1453	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	422					Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1266C>G	CCDS12759.1																																																																																				0.537	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		3	93	0	0	0	0	3	93				
BOLA3	388962	broad.mit.edu	37	2	74362737	74362737	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:74362737A>G	ENST00000327428.5	-	4	426	c.307T>C	c.(307-309)Tct>Cct	p.S103P	BOLA3_ENST00000295326.4_Missense_Mutation_p.L73P	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	103						extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2						TTGGGGACAGAGGTAAATATC	0.428																																						uc002skc.1		NA																	0					0						c.(307-309)TCT>CCT		bolA-like 3 isoform 1							232.0	196.0	208.0					2																	74362737		2203	4300	6503	SO:0001583	missense	388962					extracellular region		g.chr2:74362737A>G	BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"""bolA-like 3 (E. coli)"", ""bolA homolog 3 (E. coli)"""			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.307T>C	2.37:g.74362737A>G	ENSP00000331369:p.Ser103Pro					BOLA3_uc002skd.1_Missense_Mutation_p.L73P	p.S103P	NM_212552	NP_997717	Q53S33	BOLA3_HUMAN			4	345	-			103					G3XAB0	Missense_Mutation	SNP	ENST00000327428.5	37	c.307T>C	CCDS33225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.10|16.10	3.026954|3.026954	0.54683|0.54683	.|.	.|.	ENSG00000163170|ENSG00000163170	ENST00000295326|ENST00000327428	.|T	.|0.63913	.|-0.07	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.307881	.|0.35179	.|N	.|0.003392	T|T	0.73377|0.73377	0.3579|0.3579	M|M	0.86028|0.86028	2.79|2.79	0.41483|0.41483	D|D	0.988179|0.988179	D|D	0.58268|0.61080	0.982|0.989	P|P	0.58454|0.55055	0.839|0.767	T|T	0.77384|0.77384	-0.2608|-0.2608	8|9	0.87932|.	D|.	0|.	-7.9204|-7.9204	8.4717|8.4717	0.32988|0.32988	0.8269:0.0:0.0:0.173|0.8269:0.0:0.0:0.173	.|.	73|103	G3XAB0|Q53S33	.|BOLA3_HUMAN	P|P	73|103	.|ENSP00000331369:S103P	ENSP00000295326:L73P|.	L|S	-|-	2|1	0|0	BOLA3|BOLA3	74216245|74216245	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.735000|0.735000	0.41995|0.41995	2.602000|2.602000	0.46257|0.46257	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.428	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328207.2	NM_212552		3	67	0	0	0	0	3	67				
CD8A	925	broad.mit.edu	37	2	87013080	87013080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:87013080G>T	ENST00000409511.2	-	9	1701	c.671C>A	c.(670-672)tCg>tAg	p.S224*	CD8A_ENST00000283635.3_Nonsense_Mutation_p.S224*|CD8A_ENST00000352580.3_Nonsense_Mutation_p.S187*|CD8A_ENST00000456996.2_Nonsense_Mutation_p.S187*|CD8A_ENST00000538832.1_Nonsense_Mutation_p.S265*|CD8A_ENST00000409781.1_Nonsense_Mutation_p.S187*	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	224					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CTTGTCTCCCGATTTGACCAC	0.547																																						uc002srt.2		NA																	0				ovary(1)	1						c.(670-672)TCG>TAG		CD8 antigen alpha polypeptide isoform 1							164.0	161.0	162.0					2																	87013080		2203	4300	6503	SO:0001587	stop_gained	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87013080G>T		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.671C>A	2.37:g.87013080G>T	ENSP00000386559:p.Ser224*					RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Nonsense_Mutation_p.S224*|CD8A_uc010ytn.1_Nonsense_Mutation_p.S265*|CD8A_uc002sru.2_Nonsense_Mutation_p.S187*	p.S224*	NM_001768	NP_001759	P01732	CD8A_HUMAN			6	1560	-			224			Cytoplasmic (Potential).		B4DT80|D6W5M8|Q13970|Q4ZG17	Nonsense_Mutation	SNP	ENST00000409511.2	37	c.671C>A	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	41	8.574681	0.98870	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	.	.	.	3.94	-0.521	0.11931	.	1.259980	0.05539	N	0.565468	.	.	.	.	.	.	0.42441	D	0.992714	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-0.3756	10.8006	0.46487	0.0:0.0:0.2899:0.7101	.	.	.	.	X	187;187;224;224;209;265;187	.	ENSP00000283635:S224X	S	-	2	0	CD8A	86866591	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.623000	0.02040	-0.095000	0.12351	0.655000	0.94253	TCG		0.547	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		7	163	1	0	5.18e-06	6.85e-06	7	163				
THSD7B	80731	broad.mit.edu	37	2	137928343	137928343	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:137928343G>A	ENST00000409968.1	+	7	1736	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Missense_Mutation_p.E489K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E520K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	520	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCCTCATGGAATCTACAGG	0.473																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1465-1467)GAA>AAA		thrombospondin, type I, domain containing 7B							116.0	110.0	112.0					2																	137928343		1970	4165	6135	SO:0001583	missense	80731							g.chr2:137928343G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1558G>A	2.37:g.137928343G>A	ENSP00000387145:p.Glu520Lys					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.E379K	p.E489K	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1465	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1465G>A		.	.	.	.	.	.	.	.	.	.	G	24.7	4.562776	0.86335	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60548	0.18;0.18;0.18	5.76	5.76	0.90799	.	0.092578	0.64402	D	0.000001	T	0.69178	0.3082	L	0.58925	1.835	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.968	T	0.62144	-0.6916	10	0.08179	T	0.78	.	16.8927	0.86092	0.0:0.0:1.0:0.0	.	520;489	Q9C0I4;C9JKN6	THS7B_HUMAN;.	K	520;520;489	ENSP00000387145:E520K;ENSP00000272643:E520K;ENSP00000413841:E489K	ENSP00000272643:E520K	E	+	1	0	THSD7B	137644813	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	6.704000	0.74639	2.713000	0.92767	0.655000	0.94253	GAA		0.473	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		4	60	0	0	0	0	4	60				
FAP	2191	broad.mit.edu	37	2	163039967	163039967	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:163039967T>G	ENST00000188790.4	-	21	2033	c.1826A>C	c.(1825-1827)gAa>gCa	p.E609A	FAP_ENST00000443424.1_Missense_Mutation_p.E584A	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAAACCCATTTCTATGAATTT	0.284																																						uc002ucd.2		NA																	0				ovary(3)	3						c.(1825-1827)GAA>GCA		fibroblast activation protein, alpha subunit							64.0	73.0	70.0					2																	163039967		2202	4294	6496	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163039967T>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1826A>C	2.37:g.163039967T>G	ENSP00000188790:p.Glu609Ala					FAP_uc010fpc.2_Missense_Mutation_p.E158A|FAP_uc010zct.1_Missense_Mutation_p.E584A|FAP_uc010fpd.2_Missense_Mutation_p.E88A	p.E609A	NM_004460	NP_004451	Q12884	SEPR_HUMAN			21	2034	-			609			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1826A>C	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241936	0.22796	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.43688	0.94;0.94	5.59	5.59	0.84812	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.303911	0.37955	N	0.001878	T	0.30947	0.0781	N	0.25647	0.755	0.46701	D	0.999169	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.15870	0.014;0.001;0.013	T	0.07597	-1.0764	10	0.38643	T	0.18	-11.7812	11.9784	0.53105	0.0:0.0:0.1445:0.8555	.	584;88;609	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	A	609;584	ENSP00000188790:E609A;ENSP00000411391:E584A	ENSP00000188790:E609A	E	-	2	0	FAP	162748213	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	5.700000	0.68318	2.231000	0.72958	0.533000	0.62120	GAA		0.284	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			4	81	0	0	0	0	4	81				
ATP5G3	518	broad.mit.edu	37	2	176043850	176043850	+	Silent	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:176043850T>C	ENST00000284727.4	-	4	3273	c.249A>G	c.(247-249)gtA>gtG	p.V83V	ATP5G3_ENST00000392541.3_Silent_p.V83V|Y_RNA_ENST00000363251.1_RNA|ATP5G3_ENST00000409194.1_Silent_p.V83V	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	83					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CAGCCACTCCTACTGTTGCAG	0.443																																					GBM(30;387 605 18606 28805 47989)	uc002ujz.3		NA																	0				ovary(1)	1						c.(247-249)GTA>GTG		ATP synthase, H+ transporting, mitochondrial F0							101.0	95.0	97.0					2																	176043850		2203	4300	6503	SO:0001819	synonymous_variant	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176043850T>C	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.249A>G	2.37:g.176043850T>C						ATP5G3_uc002uka.3_Silent_p.V83V|ATP5G3_uc002ukb.1_Silent_p.V83V	p.V83V	NM_001002258	NP_001002258	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		3	519	-			83			Helical; (Potential).		B2R4Z0|D3DPF0|Q4ZFX7	Silent	SNP	ENST00000284727.4	37	c.249A>G	CCDS2263.1																																																																																				0.443	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		3	67	0	0	0	0	3	67				
TTN	7273	broad.mit.edu	37	2	179399269	179399269	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr2:179399269C>G	ENST00000591111.1	-	308	97374	c.97150G>C	c.(97150-97152)Gag>Cag	p.E32384Q	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34025Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25152Q|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25085Q|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24960Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31457Q|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32384	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATATTCTCAATGATCTGT	0.413																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94369-94371)GAG>CAG		titin isoform N2-A							125.0	122.0	123.0					2																	179399269		1956	4158	6114	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399269C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97150G>C	2.37:g.179399269C>G	ENSP00000465570:p.Glu32384Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25152Q|TTN_uc010zfi.1_Missense_Mutation_p.E25085Q|TTN_uc010zfj.1_Missense_Mutation_p.E24960Q	p.E31457Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94593	-			32384					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94369G>C		.	.	.	.	.	.	.	.	.	.	C	15.54	2.865021	0.51482	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.63581	0.2523	N	0.04387	-0.21	0.58432	D	0.999992	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.73294	-0.4028	9	0.87932	D	0	.	19.3087	0.94175	0.0:1.0:0.0:0.0	.	24960;25085;25152;32384	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	31457;24960;25152;25085;24957	ENSP00000343764:E31457Q;ENSP00000434586:E24960Q;ENSP00000340554:E25152Q;ENSP00000352154:E25085Q	ENSP00000340554:E25152Q	E	-	1	0	TTN	179107515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.857000	0.98124	0.650000	0.86243	GAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	103	0	0	0	0	3	103				
POTEH	23784	broad.mit.edu	37	22	16279264	16279264	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr22:16279264T>A	ENST00000343518.6	-	4	1010	c.959A>T	c.(958-960)cAa>cTa	p.Q320L	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	320										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTGCTGTTTTTGCTCATGTAC	0.328																																						uc010gqp.2		NA																	0				skin(1)	1						c.(958-960)CAA>CTA		ANKRD26-like family C, member 3																																				SO:0001583	missense	23784							g.chr22:16279264T>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.959A>T	22.37:g.16279264T>A	ENSP00000340610:p.Gln320Leu					POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.Q39L|POTEH_uc002zlj.1_Missense_Mutation_p.Q155L	p.Q320L	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			4	1011	-			320			ANK 5.		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.959A>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	12.08	1.831699	0.32421	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.53423	0.62	1.38	0.292	0.15737	Ankyrin repeat-containing domain (3);	1.304430	0.06078	U	0.661422	T	0.50000	0.1590	N	0.21373	0.66	0.09310	N	1	P;D	0.65815	0.881;0.995	P;D	0.79108	0.817;0.992	T	0.38499	-0.9658	10	0.62326	D	0.03	.	3.1877	0.06607	0.0:0.2584:0.0:0.7416	.	320;283	Q6S545;A6NKF6	POTEH_HUMAN;.	L	283;320	ENSP00000340610:Q320L	ENSP00000340610:Q320L	Q	-	2	0	POTEH	14659264	0.143000	0.22626	0.001000	0.08648	0.129000	0.20672	1.279000	0.33191	0.042000	0.15717	0.147000	0.16070	CAA		0.328	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		6	376	0	0	0	0	6	376				
NDUFAF3	25915	broad.mit.edu	37	3	49060398	49060398	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:49060398G>T	ENST00000326925.6	+	4	1561	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.V86L|MIR425_ENST00000362162.1_RNA|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.V86L|DALRD3_ENST00000313778.5_5'Flank|MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.V86L	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	143					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCTGTGGAAGTGCAGGACAC	0.637																																						uc003cvq.2		NA																	0					0						c.(427-429)GTG>TTG		NADH dehydrogenase (ubiquinone) 1 alpha							78.0	83.0	81.0					3																	49060398		2203	4300	6503	SO:0001583	missense	25915				mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding	g.chr3:49060398G>T		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.427G>T	3.37:g.49060398G>T	ENSP00000323076:p.Val143Leu					DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Missense_Mutation_p.V86L|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Missense_Mutation_p.V86L|NDUFAF3_uc003cvr.2_Missense_Mutation_p.V86L|NDUFAF3_uc003cvs.2_Missense_Mutation_p.V86L	p.V143L	NM_199069	NP_951032	Q9BU61	NDUF3_HUMAN			4	931	+			143						Missense_Mutation	SNP	ENST00000326925.6	37	c.427G>T	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828508	0.90955	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.56	4.68	0.58851	.	0.129781	0.50627	D	0.000119	D	0.82788	0.5113	M	0.80332	2.49	0.52501	D	0.999958	P	0.36330	0.548	P	0.46452	0.517	T	0.82402	-0.0475	10	0.45353	T	0.12	-19.1297	11.613	0.51072	0.1475:0.0:0.8525:0.0	.	143	Q9BU61	NDUF3_HUMAN	L	86;143;86;86	ENSP00000323003:V86L;ENSP00000323076:V143L;ENSP00000378843:V86L;ENSP00000402465:V86L	ENSP00000323003:V86L	V	+	1	0	NDUFAF3	49035402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.624000	0.61254	1.319000	0.45190	0.655000	0.94253	GTG		0.637	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		4	95	1	0	0.00024832	0.000321836	4	95				
CPOX	1371	broad.mit.edu	37	3	98304334	98304334	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:98304334C>T	ENST00000264193.2	-	5	1341	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	375					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTGAATGAGTCATCACAGTGC	0.517																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	uc003dsx.2		NA																	0					0						c.(1123-1125)GAC>AAC		coproporphyrinogen oxidase precursor							168.0	177.0	174.0					3																	98304334		2203	4300	6503	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304334C>T	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1123G>A	3.37:g.98304334C>T	ENSP00000264193:p.Asp375Asn						p.D375N	NM_000097	NP_000088	P36551	HEM6_HUMAN			5	1216	-			375					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.1123G>A	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317096	0.81469	.	.	ENSG00000080819	ENST00000264193	D	0.93019	-3.15	5.9	5.9	0.94986	.	0.041938	0.85682	D	0.000000	D	0.95233	0.8454	M	0.90814	3.15	0.80722	D	1	P	0.38455	0.632	B	0.43413	0.419	D	0.93778	0.7081	10	0.21540	T	0.41	-20.4368	17.776	0.88508	0.0:1.0:0.0:0.0	.	375	P36551	HEM6_HUMAN	N	375	ENSP00000264193:D375N	ENSP00000264193:D375N	D	-	1	0	CPOX	99787024	1.000000	0.71417	0.679000	0.29978	0.990000	0.78478	7.487000	0.81328	2.806000	0.96561	0.655000	0.94253	GAC		0.517	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		7	234	0	0	0	0	7	234				
PIK3CA	5290	broad.mit.edu	37	3	178947827	178947827	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:178947827G>T	ENST00000263967.3	+	19	2859	c.2702G>T	c.(2701-2703)tGt>tTt	p.C901F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	901	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C901F(7)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACACGTTCATGTGCTGGATAC	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		7	Substitution - Missense(7)	p.C901F(3)	endometrium(4)|large_intestine(2)|stomach(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(2701-2703)TGT>TTT		phosphoinositide-3-kinase, catalytic, alpha							220.0	207.0	211.0					3																	178947827		1906	4131	6037	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178947827G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2702G>T	3.37:g.178947827G>T	ENSP00000263967:p.Cys901Phe	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C901F	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		19	2859	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		901			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2702G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506649	0.85282	.	.	ENSG00000121879	ENST00000263967	T	0.76060	-0.99	5.61	5.61	0.85477	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.090376	0.85682	D	0.000000	D	0.90051	0.6893	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91894	0.5526	10	0.87932	D	0	-11.1303	19.6363	0.95735	0.0:0.0:1.0:0.0	.	901	P42336	PK3CA_HUMAN	F	901	ENSP00000263967:C901F	ENSP00000263967:C901F	C	+	2	0	PIK3CA	180430521	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	9.367000	0.97148	2.648000	0.89879	0.585000	0.79938	TGT		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			16	174	1	0	2.49e-13	3.45e-13	16	174				
SENP5	205564	broad.mit.edu	37	3	196612189	196612189	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr3:196612189G>A	ENST00000323460.5	+	2	386	c.137G>A	c.(136-138)aGg>aAg	p.R46K	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.R46K	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	46					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAGCTGGGAAGGCCAGTTACT	0.413																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3		NA																	0				breast(2)|lung(1)	3						c.(136-138)AGG>AAG		SUMO1/sentrin specific peptidase 5							87.0	88.0	88.0					3																	196612189		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612189G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.137G>A	3.37:g.196612189G>A	ENSP00000327197:p.Arg46Lys					SENP5_uc011bty.1_Missense_Mutation_p.R46K	p.R46K	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	386	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		46					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.137G>A	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	8.044	0.764530	0.15914	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.23348	2.25;1.91	5.18	3.37	0.38596	.	0.284712	0.32147	N	0.006506	T	0.17619	0.0423	N	0.24115	0.695	0.80722	D	1	B;B	0.31318	0.319;0.039	B;B	0.24701	0.055;0.024	T	0.04915	-1.0918	10	0.59425	D	0.04	-8.2623	14.3242	0.66507	0.0:0.2827:0.7173:0.0	.	46;46	B4DY82;Q96HI0	.;SENP5_HUMAN	K	46	ENSP00000327197:R46K;ENSP00000390231:R46K	ENSP00000327197:R46K	R	+	2	0	SENP5	198096586	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	2.195000	0.42677	0.827000	0.34685	-0.150000	0.13652	AGG		0.413	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		4	46	0	0	0	0	4	46				
USP53	54532	broad.mit.edu	37	4	120169908	120169908	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr4:120169908A>G	ENST00000274030.6	+	7	1422	c.243A>G	c.(241-243)atA>atG	p.I81M	USP53_ENST00000450251.1_Missense_Mutation_p.I81M	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CCCAGACGATATTTGCACAGT	0.378																																						uc003ics.3		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(241-243)ATA>ATG		ubiquitin specific protease 53							153.0	133.0	140.0					4																	120169908		1915	4119	6034	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120169908A>G	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.243A>G	4.37:g.120169908A>G	ENSP00000274030:p.Ile81Met					USP53_uc003icr.3_Missense_Mutation_p.I81M|USP53_uc003icu.3_Translation_Start_Site	p.I81M	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN			6	1309	+			81						Missense_Mutation	SNP	ENST00000274030.6	37	c.243A>G	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307819	0.60305	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.33865	1.39;1.39	6.01	-2.56	0.06268	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.326314	0.38897	N	0.001528	T	0.44891	0.1315	M	0.84683	2.71	0.32489	N	0.54049	P	0.38440	0.631	P	0.50109	0.631	T	0.52155	-0.8613	10	0.72032	D	0.01	-10.4761	2.2436	0.04025	0.3428:0.3163:0.2386:0.1023	.	81	Q70EK8	UBP53_HUMAN	M	81	ENSP00000274030:I81M;ENSP00000409906:I81M	ENSP00000274030:I81M	I	+	3	3	USP53	120389356	0.912000	0.30974	0.846000	0.33378	0.921000	0.55340	0.100000	0.15231	-0.630000	0.05567	0.528000	0.53228	ATA		0.378	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		4	49	0	0	0	0	4	49				
RAB33B	83452	broad.mit.edu	37	4	140394046	140394046	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr4:140394046G>C	ENST00000305626.5	+	2	845	c.456G>C	c.(454-456)ttG>ttC	p.L152F		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	152					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					AATGTGACTTGAGAAGTGCCA	0.398																																						uc003ihv.2		NA																	0					0						c.(454-456)TTG>TTC		RAB33B, member RAS oncogene family							141.0	141.0	141.0					4																	140394046		2203	4300	6503	SO:0001583	missense	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140394046G>C	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.456G>C	4.37:g.140394046G>C	ENSP00000306496:p.Leu152Phe						p.L152F	NM_031296	NP_112586	Q9H082	RB33B_HUMAN			2	845	+	all_hematologic(180;0.162)		152					B2R987|Q4W5B0	Missense_Mutation	SNP	ENST00000305626.5	37	c.456G>C	CCDS3747.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505552	0.64410	.	.	ENSG00000172007	ENST00000305626	D	0.84944	-1.92	5.82	3.99	0.46301	Small GTP-binding protein domain (1);	0.062079	0.64402	D	0.000004	D	0.93559	0.7944	H	0.94264	3.515	0.54753	D	0.999984	D	0.71674	0.998	D	0.69142	0.962	D	0.93790	0.7091	10	0.87932	D	0	.	11.6425	0.51242	0.1527:0.0:0.8473:0.0	.	152	Q9H082	RB33B_HUMAN	F	152	ENSP00000306496:L152F	ENSP00000306496:L152F	L	+	3	2	RAB33B	140613496	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.864000	0.39469	0.707000	0.31934	0.561000	0.74099	TTG		0.398	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		4	126	0	0	0	0	4	126				
DCHS2	54798	broad.mit.edu	37	4	155278384	155278384	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr4:155278384G>C	ENST00000357232.4	-	6	786	c.787C>G	c.(787-789)Cta>Gta	p.L263V	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	263	Cadherin 2. {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)		aagtgccttagcagaggtaaa	0.398																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(787-789)CTA>GTA		dachsous 2 isoform 1							151.0	161.0	158.0					4																	155278384		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155278384G>C	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.787C>G	4.37:g.155278384G>C	ENSP00000349768:p.Leu263Val					DCHS2_uc003inx.2_Intron	p.L263V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	6	787	-	all_hematologic(180;0.208)	Renal(120;0.0854)	263			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.787C>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234083	0.01505	.	.	ENSG00000197410	ENST00000357232	T	0.54279	0.58	0.392	0.392	0.16288	Cadherin (1);	.	.	.	.	T	0.30198	0.0757	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.18587	-1.0332	8	0.25751	T	0.34	.	.	.	.	.	263	Q6V1P9	PCD23_HUMAN	V	263	ENSP00000349768:L263V	ENSP00000349768:L263V	L	-	1	2	DCHS2	155497834	0.030000	0.19436	0.114000	0.21550	0.107000	0.19398	-0.951000	0.03885	0.430000	0.26230	0.430000	0.28490	CTA		0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		11	136	0	0	0	0	11	136				
PCDHB2	56133	broad.mit.edu	37	5	140476001	140476001	+	Silent	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr5:140476001T>C	ENST00000194155.4	+	1	1775	c.1627T>C	c.(1627-1629)Ttg>Ctg	p.L543L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCCGGCGTTGAGCAGCGA	0.706																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1627-1629)TTG>CTG		protocadherin beta 2 precursor							39.0	43.0	42.0					5																	140476001		2200	4298	6498	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476001T>C	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1627T>C	5.37:g.140476001T>C						PCDHB2_uc003lim.1_Silent_p.L204L	p.L543L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1765	+			543			Extracellular (Potential).|Cadherin 5.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1627T>C	CCDS4244.1																																																																																				0.706	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		6	89	0	0	0	0	6	89				
PCDHGA4	56111	broad.mit.edu	37	5	140734835	140734835	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr5:140734835T>C	ENST00000571252.1	+	1	68	c.68T>C	c.(67-69)cTg>cCg	p.L23P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	23					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGGTTCTGGTGGAAATC	0.637																																						uc003ljq.1		NA																	0					0						c.(67-69)CTG>CCG		protocadherin gamma subfamily A, 4 isoform 1							36.0	43.0	41.0					5																	140734835		2015	4210	6225	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140734835T>C	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.68T>C	5.37:g.140734835T>C	ENSP00000458570:p.Leu23Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.L23P	p.L23P	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	68	+			23					Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.68T>C	CCDS58979.1																																																																																				0.637	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		6	73	0	0	0	0	6	73				
ADAM19	8728	broad.mit.edu	37	5	156934137	156934137	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr5:156934137A>G	ENST00000517905.1	-	10	961	c.917T>C	c.(916-918)tTc>tCc	p.F306S	ADAM19_ENST00000257527.4_Missense_Mutation_p.F306S|ADAM19_ENST00000430702.2_Missense_Mutation_p.F39S|ADAM19_ENST00000394020.1_Missense_Mutation_p.F308S			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	306	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGCCGTGGAAGGACATGCC	0.617																																						uc003lwz.2		NA																	0				ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(916-918)TTC>TCC		ADAM metallopeptidase domain 19 preproprotein							76.0	71.0	73.0					5																	156934137		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156934137A>G	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.917T>C	5.37:g.156934137A>G	ENSP00000428654:p.Phe306Ser					ADAM19_uc003lww.1_Missense_Mutation_p.F39S|ADAM19_uc011ddr.1_Missense_Mutation_p.F237S	p.F306S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	981	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	306			Peptidase M12B.|Extracellular (Potential).		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.917T>C		.	.	.	.	.	.	.	.	.	.	A	33	5.194716	0.94960	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;D;D;D	0.88509	2.73;-2.39;-2.39;-2.39	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.96030	0.8707	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97204	0.9866	10	0.87932	D	0	.	15.5379	0.76018	1.0:0.0:0.0:0.0	.	306;39	Q9H013-2;E9PD32	.;.	S	39;306;308;306	ENSP00000414088:F39S;ENSP00000257527:F306S;ENSP00000377588:F308S;ENSP00000428654:F306S	ENSP00000257527:F306S	F	-	2	0	ADAM19	156866715	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	9.235000	0.95353	2.071000	0.62044	0.528000	0.53228	TTC		0.617	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		3	80	0	0	0	0	3	80				
RIMS1	22999	broad.mit.edu	37	6	72968708	72968708	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr6:72968708C>T	ENST00000521978.1	+	18	2947	c.2947C>T	c.(2947-2949)Cca>Tca	p.P983S	RIMS1_ENST00000522291.1_Missense_Mutation_p.P982S|RIMS1_ENST00000425662.2_Missense_Mutation_p.P376S|RIMS1_ENST00000523963.1_Missense_Mutation_p.P457S|RIMS1_ENST00000401910.3_Missense_Mutation_p.P456S|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.P982S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P982S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P983S|RIMS1_ENST00000517960.1_Missense_Mutation_p.P982S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P983S|RIMS1_ENST00000517827.1_Missense_Mutation_p.P442S|RIMS1_ENST00000264839.7_Missense_Mutation_p.P983S	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	983					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGAAATTCATCCAACAAGAAG	0.388																																						uc003pga.2		NA																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(2947-2949)CCA>TCA		regulating synaptic membrane exocytosis 1							129.0	128.0	128.0					6																	72968708		1916	4125	6041	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72968708C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2947C>T	6.37:g.72968708C>T	ENSP00000428417:p.Pro983Ser					RIMS1_uc011dyb.1_Missense_Mutation_p.P608S|RIMS1_uc003pgc.2_Missense_Mutation_p.P609S|RIMS1_uc010kaq.2_Missense_Mutation_p.P456S|RIMS1_uc011dyc.1_Missense_Mutation_p.P457S|RIMS1_uc010kar.2_Missense_Mutation_p.P376S|RIMS1_uc011dyd.1_Missense_Mutation_p.P442S|RIMS1_uc003pgf.2_Missense_Mutation_p.P199S|RIMS1_uc003pgg.2_Missense_Mutation_p.P200S|RIMS1_uc003pgi.2_Missense_Mutation_p.P199S|RIMS1_uc003pgh.2_Missense_Mutation_p.P199S|RIMS1_uc003pgd.2_Missense_Mutation_p.P200S|RIMS1_uc003pge.2_Missense_Mutation_p.P200S|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.P609S|RIMS1_uc010kas.1_Missense_Mutation_p.P442S	p.P983S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			18	3024	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	983					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2947C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.49|14.49	2.550245|2.550245	0.45383|0.45383	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.16196|.	2.61;2.75;2.72;2.75;2.76;2.78;2.75;2.71;2.77;2.78;2.75;2.64;2.74;2.36|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.091258|.	0.47093|.	D|.	0.000249|.	T|T	0.45054|0.45054	0.1323|0.1323	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B;B;P;B;B;B;B;B;B;B;P;B|.	0.38300|.	0.002;0.018;0.485;0.003;0.001;0.027;0.304;0.059;0.376;0.0;0.626;0.148|.	B;B;B;B;B;B;B;B;B;B;B;B|.	0.37888|.	0.004;0.017;0.26;0.005;0.004;0.04;0.077;0.029;0.141;0.004;0.219;0.05|.	T|T	0.35001|0.35001	-0.9806|-0.9806	10|5	0.08837|.	T|.	0.75|.	-16.0319|-16.0319	19.5526|19.5526	0.95328|0.95328	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	442;457;983;442;456;982;235;983;982;236;983;983|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	S|F	983;983;983;982;983;982;983;982;983;982;982;983;456;457;376;376;442;208|556	ENSP00000430101:P983S;ENSP00000275037:P982S;ENSP00000264839:P983S;ENSP00000429959:P982S;ENSP00000430408:P983S;ENSP00000430502:P982S;ENSP00000430932:P982S;ENSP00000428417:P983S;ENSP00000385649:P456S;ENSP00000428328:P457S;ENSP00000411235:P376S;ENSP00000389503:P376S;ENSP00000428367:P442S;ENSP00000359448:P208S|.	ENSP00000264839:P983S|.	P|S	+|+	1|2	0|0	RIMS1|RIMS1	73025429|73025429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	5.610000|5.610000	0.67668|0.67668	2.701000|2.701000	0.92244|0.92244	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.388	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			6	90	0	0	0	0	6	90				
PDE1C	5137	broad.mit.edu	37	7	31862847	31862847	+	Silent	SNP	G	G	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:31862847G>A	ENST00000396191.1	-	14	1877	c.1422C>T	c.(1420-1422)agC>agT	p.S474S	PDE1C_ENST00000396182.2_Silent_p.S474S|PDE1C_ENST00000396193.1_Silent_p.S534S|PDE1C_ENST00000396184.3_Silent_p.S474S|PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000321453.7_Silent_p.S474S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	474	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CATCTGACGAGCTGATGCTAT	0.438																																						uc003tcm.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.(1420-1422)AGC>AGT		phosphodiesterase 1C							65.0	62.0	63.0					7																	31862847		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862847G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1422C>T	7.37:g.31862847G>A						PDE1C_uc003tcn.1_Silent_p.S474S|PDE1C_uc003tco.1_Silent_p.S534S|PDE1C_uc003tcr.2_Silent_p.S474S|PDE1C_uc003tcs.2_Silent_p.S474S	p.S474S	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	1891	-			474			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.1422C>T	CCDS55099.1																																																																																				0.438	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			4	54	0	0	0	0	4	54				
SEMA3C	10512	broad.mit.edu	37	7	80546045	80546045	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:80546045C>T	ENST00000265361.3	-	2	614	c.53G>A	c.(52-54)tGt>tAt	p.C18Y	SEMA3C_ENST00000544525.1_Missense_Mutation_p.C36Y|SEMA3C_ENST00000536800.1_De_novo_Start_InFrame|SEMA3C_ENST00000419255.2_Missense_Mutation_p.C18Y|SEMA3C_ENST00000487621.1_5'UTR	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	18					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCTTTCACACAGATAGAACA	0.348																																						uc003uhj.2		NA																	0				ovary(1)	1						c.(52-54)TGT>TAT		semaphorin 3C precursor							114.0	107.0	109.0					7																	80546045		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80546045C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.53G>A	7.37:g.80546045C>T	ENSP00000265361:p.Cys18Tyr					SEMA3C_uc011kgw.1_Missense_Mutation_p.C36Y|SEMA3C_uc011kgx.1_Translation_Start_Site	p.C18Y	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			2	615	-			18					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.53G>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	1.902	-0.452841	0.04540	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26223	1.77;1.77;1.75	5.39	0.317	0.15861	.	0.524999	0.21015	N	0.081606	T	0.09905	0.0243	N	0.08118	0	0.58432	D	0.999999	B;B	0.16802	0.019;0.01	B;B	0.16289	0.015;0.007	T	0.24404	-1.0161	10	0.23891	T	0.37	.	4.7477	0.13045	0.1092:0.5247:0.2317:0.1344	.	36;18	F5H1Z7;Q99985	.;SEM3C_HUMAN	Y	18;18;36	ENSP00000265361:C18Y;ENSP00000411193:C18Y;ENSP00000445649:C36Y	ENSP00000265361:C18Y	C	-	2	0	SEMA3C	80383981	0.928000	0.31464	0.061000	0.19648	0.139000	0.21198	-0.117000	0.10708	-0.417000	0.07461	-2.801000	0.00113	TGT		0.348	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		9	54	0	0	0	0	9	54				
NPTX2	4885	broad.mit.edu	37	7	98254269	98254269	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:98254269G>C	ENST00000265634.3	+	3	844	c.679G>C	c.(679-681)Gtg>Ctg	p.V227L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	227	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGTTCAAGGTGTCCCTCCC	0.607																																						uc003upl.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(679-681)GTG>CTG		neuronal pentraxin II precursor							241.0	193.0	210.0					7																	98254269		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254269G>C		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.679G>C	7.37:g.98254269G>C	ENSP00000265634:p.Val227Leu						p.V227L	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	856	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		227			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.679G>C	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	2.262	-0.369117	0.05069	.	.	ENSG00000106236	ENST00000265634	T	0.06608	3.28	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.02230	0.0069	N	0.00707	-1.245	0.80722	D	1	B	0.18863	0.031	B	0.17098	0.017	T	0.43605	-0.9381	10	0.02654	T	1	-2.0266	18.5305	0.90990	0.0:0.0:1.0:0.0	.	227	P47972	NPTX2_HUMAN	L	227	ENSP00000265634:V227L	ENSP00000265634:V227L	V	+	1	0	NPTX2	98092205	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	3.786000	0.55431	2.619000	0.88677	0.561000	0.74099	GTG		0.607	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		19	226	0	0	0	0	19	226				
OR9A4	130075	broad.mit.edu	37	7	141618783	141618783	+	Silent	SNP	G	G	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr7:141618783G>A	ENST00000548136.1	+	1	167	c.108G>A	c.(106-108)gtG>gtA	p.V36V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCTACTTGGTGACATTAATGG	0.428																																						uc003vwu.1		NA																	0				skin(1)	1						c.(106-108)GTG>GTA		olfactory receptor, family 9, subfamily A,							198.0	208.0	204.0					7																	141618783		2200	4300	6500	SO:0001819	synonymous_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618783G>A		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.108G>A	7.37:g.141618783G>A							p.V36V	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	108	+	Melanoma(164;0.0171)		36			Helical; Name=1; (Potential).		B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.108G>A	CCDS43661.1																																																																																				0.428	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		6	157	0	0	0	0	6	157				
CSMD1	64478	broad.mit.edu	37	8	4494966	4494966	+	Missense_Mutation	SNP	C	C	G	rs371015364		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:4494966C>G	ENST00000520002.1	-	2	755	c.200G>C	c.(199-201)cGc>cCc	p.R67P	CSMD1_ENST00000542608.1_Missense_Mutation_p.R67P|CSMD1_ENST00000400186.3_Missense_Mutation_p.R67P|CSMD1_ENST00000537824.1_Missense_Mutation_p.R67P|CSMD1_ENST00000539096.1_Missense_Mutation_p.R67P|CSMD1_ENST00000602723.1_Missense_Mutation_p.R67P|CSMD1_ENST00000602557.1_Missense_Mutation_p.R67P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	67	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCCTATTGCGCTCGCCCGT	0.468																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(199-201)CGC>CCC		CUB and Sushi multiple domains 1 precursor							126.0	125.0	126.0					8																	4494966		1935	4174	6109	SO:0001583	missense	64478					integral to membrane		g.chr8:4494966C>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.200G>C	8.37:g.4494966C>G	ENSP00000430733:p.Arg67Pro						p.R67P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	590	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	67			Extracellular (Potential).|CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.200G>C		.	.	.	.	.	.	.	.	.	.	C	19.04	3.749191	0.69533	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.12	5.12	0.69794	.	.	.	.	.	T	0.39733	0.1089	N	0.17838	0.53	0.33052	D	0.532829	D	0.71674	0.998	D	0.65874	0.939	T	0.49872	-0.8893	9	0.46703	T	0.11	.	16.0542	0.80782	0.0:1.0:0.0:0.0	.	67	E5RIG2	.	P	67	ENSP00000383047:R67P;ENSP00000430733:R67P;ENSP00000441462:R67P;ENSP00000446243:R67P;ENSP00000441675:R67P	ENSP00000383047:R67P	R	-	2	0	CSMD1	4482374	0.996000	0.38824	0.498000	0.27564	0.867000	0.49689	3.319000	0.51983	2.401000	0.81631	0.585000	0.79938	CGC		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	101	0	0	0	0	4	101				
PXDNL	137902	broad.mit.edu	37	8	52320759	52320759	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:52320759A>G	ENST00000356297.4	-	17	3525	c.3425T>C	c.(3424-3426)aTt>aCt	p.I1142T	PXDNL_ENST00000543296.1_Missense_Mutation_p.I1142T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1142					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACCCCTTTGAATGATGGTGGC	0.493																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(3424-3426)ATT>ACT		peroxidasin homolog-like precursor							92.0	96.0	95.0					8																	52320759		1868	4104	5972	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320759A>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3425T>C	8.37:g.52320759A>G	ENSP00000348645:p.Ile1142Thr					PXDNL_uc003xqt.3_RNA	p.I1142T	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3526	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1142					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3425T>C	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.103|8.103	0.777090|0.777090	0.16120|0.16120	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.79352	.|-1.26;-1.26	3.82|3.82	1.29|1.29	0.21616|0.21616	.|.	.|0.601943	.|0.14523	.|N	.|0.314376	D|D	0.88009|0.88009	0.6322|0.6322	M|M	0.93462|0.93462	3.42|3.42	0.09310|0.09310	N|N	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.72625	.|0.978	T|T	0.76369|0.76369	-0.2984|-0.2984	5|10	.|0.66056	.|D	.|0.02	.|.	4.1627|4.1627	0.10291|0.10291	0.7141:0.0:0.1071:0.1788|0.7141:0.0:0.1071:0.1788	.|.	.|1142	.|A1KZ92	.|PXDNL_HUMAN	L|T	261|1142	.|ENSP00000348645:I1142T;ENSP00000444865:I1142T	.|ENSP00000348645:I1142T	F|I	-|-	1|2	0|0	PXDNL|PXDNL	52483312|52483312	0.998000|0.998000	0.40836|0.40836	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	6.222000|6.222000	0.72249|0.72249	-0.035000|-0.035000	0.13691|0.13691	-1.182000|-1.182000	0.01712|0.01712	TTC|ATT		0.493	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		5	122	0	0	0	0	5	122				
CSMD3	114788	broad.mit.edu	37	8	113249436	113249436	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:113249436A>T	ENST00000297405.5	-	67	10854	c.10610T>A	c.(10609-10611)aTg>aAg	p.M3537K	CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497K|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368K|CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3537						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGCAGCTCCATGTTGCTATT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10609-10611)ATG>AAG		CUB and Sushi multiple domains 3 isoform 1							206.0	188.0	194.0					8																	113249436		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113249436A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10610T>A	8.37:g.113249436A>T	ENSP00000297405:p.Met3537Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.M2739K|CSMD3_uc003ynt.2_Missense_Mutation_p.M3497K|CSMD3_uc011lhx.1_Missense_Mutation_p.M3368K	p.M3537K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			67	10769	-			3537			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10610T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010127	0.54361	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25085	2.13;2.12;2.15;1.82;2.14	4.87	4.87	0.63330	.	0.057242	0.64402	D	0.000003	T	0.15089	0.0364	N	0.14661	0.345	0.47584	D	0.999467	B;B;P	0.37122	0.029;0.018;0.583	B;B;B	0.37144	0.033;0.009;0.242	T	0.06481	-1.0824	10	0.41790	T	0.15	.	9.1911	0.37200	0.919:0.0:0.081:0.0	.	3368;3537;3497	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3497;3537;2807;3368;3467	ENSP00000345799:M3497K;ENSP00000297405:M3537K;ENSP00000341558:M2807K;ENSP00000412263:M3368K;ENSP00000343124:M3467K	ENSP00000297405:M3537K	M	-	2	0	CSMD3	113318612	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.093000	0.71422	2.034000	0.60081	0.383000	0.25322	ATG		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	94	0	0	0	0	4	94				
CSMD3	114788	broad.mit.edu	37	8	113662433	113662433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:113662433G>T	ENST00000297405.5	-	19	3394	c.3150C>A	c.(3148-3150)tgC>tgA	p.C1050*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C1010*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C946*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C1050*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1050	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTTTTTTTCGCATAGAAGGG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3148-3150)TGC>TGA		CUB and Sushi multiple domains 3 isoform 1							114.0	112.0	113.0					8																	113662433		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113662433G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3150C>A	8.37:g.113662433G>T	ENSP00000297405:p.Cys1050*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.C322*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.C1010*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.C946*	p.C1050*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			19	3309	-			1050			Extracellular (Potential).|Sushi 5.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.3150C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	42	9.594862	0.99214	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.74	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5624	0.76258	0.9356:0.0:0.0644:0.0	.	.	.	.	X	1010;1050;390;946;1050	.	ENSP00000297405:C1050X	C	-	3	2	CSMD3	113731609	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	2.634000	0.46528	0.128000	0.18479	-2.262000	0.00279	TGC		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	90	1	0	0.000602214	0.000760489	4	90				
SHARPIN	81858	broad.mit.edu	37	8	145154650	145154650	+	Silent	SNP	C	C	G	rs554522364		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr8:145154650C>G	ENST00000398712.2	-	4	1051	c.615G>C	c.(613-615)ctG>ctC	p.L205L	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	205	Interaction with SHANK1. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGAACACTCAGGGCCACAC	0.652																																						uc003zba.2		NA																	0				ovary(1)	1						c.(613-615)CTG>CTC		shank-interacting protein-like 1							50.0	61.0	57.0					8																	145154650		2097	4206	6303	SO:0001819	synonymous_variant	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154650C>G	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.615G>C	8.37:g.145154650C>G						SHARPIN_uc003zbb.2_RNA	p.L205L	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	1099	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		205			Interaction with SHANK1 (By similarity).		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	c.615G>C	CCDS43777.1																																																																																				0.652	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		3	74	0	0	0	0	3	74				
ZNF658	26149	broad.mit.edu	37	9	40774387	40774387	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:40774387G>C	ENST00000602553.1	-	5	1182	c.888C>G	c.(886-888)caC>caG	p.H296Q	ZNF658_ENST00000377626.3_Missense_Mutation_p.H296Q|ZNF658_ENST00000441795.1_Missense_Mutation_p.H294Q			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TACACTCATAGTGTGTCATAG	0.403																																						uc004abs.2		NA																	0				ovary(1)	1						c.(886-888)CAC>CAG		zinc finger protein 658							63.0	64.0	64.0					9																	40774387		2199	4279	6478	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774387G>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.888C>G	9.37:g.40774387G>C	ENSP00000473484:p.His296Gln					ZNF658_uc010mmm.1_Missense_Mutation_p.H296Q|ZNF658_uc010mmn.1_Missense_Mutation_p.H296Q	p.H296Q	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1040	-			296					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.888C>G	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	g	1.995	-0.430888	0.04669	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.27557	1.66;1.66	2.15	-0.942	0.10398	.	.	.	.	.	T	0.22437	0.0541	N	0.16166	0.38	0.09310	N	1	D;P	0.59767	0.986;0.797	P;B	0.50754	0.649;0.329	T	0.17531	-1.0366	9	0.62326	D	0.03	.	6.5473	0.22412	0.5713:0.0:0.4287:0.0	.	296;296	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	Q	294;296	ENSP00000408462:H294Q;ENSP00000366853:H296Q	ENSP00000366853:H296Q	H	-	3	2	ZNF658	40764387	0.993000	0.37304	0.000000	0.03702	0.056000	0.15407	-0.105000	0.10907	-0.312000	0.08741	-1.249000	0.01516	CAC		0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		18	167	0	0	0	0	18	167				
PLPPR1	54886	broad.mit.edu	37	9	104075140	104075140	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:104075140C>A	ENST00000374874.3	+	6	1136	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	LPPR1_ENST00000395056.2_Missense_Mutation_p.L233I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		233					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										GGTGCTGTGCCTCGGAACTCT	0.567																																						uc004bbb.2		NA																	0					0						c.(697-699)CTC>ATC		plasticity related gene 3							134.0	125.0	128.0					9																	104075140		2203	4300	6503	SO:0001583	missense	54886					integral to membrane	catalytic activity	g.chr9:104075140C>A																												ENST00000374874.3:c.697C>A	9.37:g.104075140C>A	ENSP00000364008:p.Leu233Ile					LPPR1_uc011lvi.1_Missense_Mutation_p.L209I|LPPR1_uc004bbc.2_Missense_Mutation_p.L233I|LPPR1_uc010mtc.2_Missense_Mutation_p.L217I	p.L233I	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN			6	1096	+			233			Helical; (Potential).		Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.697C>A	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692586	0.88735	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.75260	-0.92;-0.92	5.8	3.95	0.45737	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.81118	0.4756	L	0.53671	1.685	0.51233	D	0.999911	D;P	0.76494	0.999;0.945	D;P	0.71414	0.973;0.53	T	0.80148	-0.1503	10	0.52906	T	0.07	-9.4772	11.0897	0.48108	0.0:0.8612:0.0:0.1388	.	217;233	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	I	233	ENSP00000364008:L233I;ENSP00000378496:L233I	ENSP00000364005:L233I	L	+	1	0	RP11-35N6.1	103114961	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	2.485000	0.45250	0.784000	0.33661	0.462000	0.41574	CTC		0.567	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			10	94	1	0	0.00136819	0.00167413	10	94				
GRIN3A	116443	broad.mit.edu	37	9	104448991	104448991	+	Silent	SNP	T	T	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:104448991T>G	ENST00000361820.3	-	2	1791	c.1191A>C	c.(1189-1191)gcA>gcC	p.A397A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	397					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTACAGCTCTTGCGACCAGCT	0.498																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1189-1191)GCA>GCC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						123.0	94.0	104.0					9																	104448991		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104448991T>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1191A>C	9.37:g.104448991T>G						GRIN3A_uc004bbq.1_Silent_p.A397A	p.A397A	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			2	1792	-		Acute lymphoblastic leukemia(62;0.0568)	397			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.1191A>C	CCDS6758.1																																																																																				0.498	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			14	69	0	0	0	0	14	69				
FCN1	2219	broad.mit.edu	37	9	137801651	137801651	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr9:137801651G>T	ENST00000371806.3	-	9	1065	c.974C>A	c.(973-975)cCc>cAc	p.P325H		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	325	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|P domain.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGTCTAGGCGGGCCGCACCTT	0.592																																						uc004cfi.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(973-975)CCC>CAC		ficolin 1 precursor							64.0	65.0	64.0					9																	137801651		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801651G>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.974C>A	9.37:g.137801651G>T	ENSP00000360871:p.Pro325His						p.P325H	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	9	1066	-		Myeloproliferative disorder(178;0.0333)	325			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.974C>A	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926685	0.34002	.	.	ENSG00000085265	ENST00000371806	T	0.31247	1.5	3.13	-5.69	0.02428	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	.	.	.	.	T	0.57888	0.2084	H	0.95294	3.65	0.35515	D	0.800946	D	0.89917	1.0	D	0.81914	0.995	T	0.65311	-0.6199	9	0.87932	D	0	.	7.2697	0.26250	0.1496:0.0:0.7144:0.136	.	325	O00602	FCN1_HUMAN	H	325	ENSP00000360871:P325H	ENSP00000360871:P325H	P	-	2	0	FCN1	136941472	0.806000	0.28996	0.020000	0.16555	0.390000	0.30446	1.058000	0.30504	-1.528000	0.01756	-0.492000	0.04666	CCC		0.592	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		8	73	1	0	0.00307968	0.00369937	8	73				
HUWE1	10075	broad.mit.edu	37	X	53571698	53571698	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:53571698T>G	ENST00000342160.3	-	71	11531	c.11074A>C	c.(11074-11076)Att>Ctt	p.I3692L	HUWE1_ENST00000262854.6_Missense_Mutation_p.I3692L|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3692					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GATGCCACAATTACCACATTC	0.483																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(11074-11076)ATT>CTT		HECT, UBA and WWE domain containing 1							79.0	65.0	70.0					X																	53571698		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53571698T>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11074A>C	X.37:g.53571698T>G	ENSP00000340648:p.Ile3692Leu					HUWE1_uc004dsn.2_Missense_Mutation_p.I2500L|HUWE1_uc004dsq.1_Missense_Mutation_p.I7L	p.I3692L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			72	11476	-			3692					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.11074A>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	13.78|13.78	2.340473|2.340473	0.41498|0.41498	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.40756|.	1.02;1.02|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.064020|.	0.64402|.	D|.	0.000009|.	T|T	0.69160|0.69160	0.3080|0.3080	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	B;P;P|.	0.38863|.	0.053;0.518;0.65|.	B;P;P|.	0.51079|.	0.01;0.456;0.658|.	T|T	0.68198|0.68198	-0.5472|-0.5472	10|5	0.30078|.	T|.	0.28|.	.|.	13.6255|13.6255	0.62161|0.62161	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	529;3692;3676|.	Q5H935;Q7Z6Z7;Q7Z6Z7-2|.	.;HUWE1_HUMAN;.|.	L|T	3692|2725;529	ENSP00000340648:I3692L;ENSP00000262854:I3692L|.	ENSP00000262854:I3692L|.	I|N	-|-	1|2	0|0	HUWE1|HUWE1	53588423|53588423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.226000|7.226000	0.78060|0.78060	1.861000|1.861000	0.53984|0.53984	0.433000|0.433000	0.28618|0.28618	ATT|AAT		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	39	0	0	0	0	4	39				
ZMAT1	84460	broad.mit.edu	37	X	101138797	101138797	+	Silent	SNP	A	A	G			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:101138797A>G	ENST00000372782.3	-	7	1649	c.1602T>C	c.(1600-1602)caT>caC	p.H534H	ZMAT1_ENST00000458570.1_Silent_p.H363H|ZMAT1_ENST00000540921.1_Silent_p.H534H|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	534						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GTTTCTGTTTATGACCTGCTT	0.383																																						uc004eim.2		NA																	0				ovary(1)	1						c.(1087-1089)CAT>CAC		zinc finger, matrin type 1 isoform 3							174.0	142.0	153.0					X																	101138797		2203	4300	6503	SO:0001819	synonymous_variant	84460					nucleus	zinc ion binding	g.chrX:101138797A>G	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1602T>C	X.37:g.101138797A>G						ZMAT1_uc011mrl.1_Silent_p.H534H|ZMAT1_uc004ein.2_Silent_p.H363H|ZMAT1_uc011mrm.1_Silent_p.H363H	p.H363H	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	4587	-			363					Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	37	c.1089T>C	CCDS35348.1																																																																																				0.383	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			4	51	0	0	0	0	4	51				
SERPINA7	6906	broad.mit.edu	37	X	105280605	105280605	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:105280605C>T	ENST00000327674.4	-	1	780	c.445G>A	c.(445-447)Gat>Aat	p.D149N	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.D149N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	149					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCTTGACATCATTCAAGAAC	0.428																																						uc004eme.1		NA																	0					0						c.(445-447)GAT>AAT		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						169.0	162.0	164.0					X																	105280605		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280605C>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.445G>A	X.37:g.105280605C>T	ENSP00000329374:p.Asp149Asn					SERPINA7_uc010npd.2_Missense_Mutation_p.D149N|SERPINA7_uc010npe.1_Missense_Mutation_p.D149N	p.D149N	NM_000354	NP_000345	P05543	THBG_HUMAN			1	461	-			149					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.445G>A	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	3.029	-0.200089	0.06219	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84370	-1.84;-1.84	4.7	1.87	0.25490	Serpin domain (3);	0.302431	0.31859	N	0.006948	T	0.78368	0.4272	L	0.45051	1.395	0.31468	N	0.668703	B	0.16603	0.018	B	0.17979	0.02	T	0.71371	-0.4613	10	0.36615	T	0.2	.	11.4403	0.50092	0.4349:0.5651:0.0:0.0	.	149	P05543	THBG_HUMAN	N	149	ENSP00000329374:D149N;ENSP00000361644:D149N	ENSP00000329374:D149N	D	-	1	0	SERPINA7	105167261	0.994000	0.37717	0.871000	0.34182	0.028000	0.11728	5.487000	0.66863	0.141000	0.18875	0.594000	0.82650	GAT		0.428	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		6	95	0	0	0	0	6	95				
SLC6A14	11254	broad.mit.edu	37	X	115582641	115582641	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:115582641C>T	ENST00000371900.4	+	8	1053	c.965C>T	c.(964-966)tCc>tTc	p.S322F		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	322					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATATTTTACTCCCTTTCAGTG	0.318																																						uc004eqi.2		NA																	0				ovary(2)|pancreas(1)	3						c.(964-966)TCC>TTC		solute carrier family 6 (amino acid	L-Proline(DB00172)						120.0	104.0	109.0					X																	115582641		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115582641C>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.965C>T	X.37:g.115582641C>T	ENSP00000360967:p.Ser322Phe						p.S322F	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			8	1069	+			322			Helical; Name=6; (Potential).		Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.965C>T	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357718	0.82243	.	.	ENSG00000087916	ENST00000371900	T	0.80994	-1.44	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	H	0.97896	4.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.95806	0.8837	10	0.87932	D	0	.	15.2781	0.73756	0.0:1.0:0.0:0.0	.	322	Q9UN76	S6A14_HUMAN	F	322	ENSP00000360967:S322F	ENSP00000360967:S322F	S	+	2	0	SLC6A14	115496669	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.462000	0.80851	2.198000	0.70561	0.544000	0.68410	TCC		0.318	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			5	46	0	0	0	0	5	46				
MAGEC1	9947	broad.mit.edu	37	X	140994645	140994645	+	Silent	SNP	C	C	T			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:140994645C>T	ENST00000285879.4	+	4	1741	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	485								p.S485S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCTCCTCCTCCTCCTCCT	0.478										HNSCC(15;0.026)																												uc004fbt.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1453-1455)TCC>TCT		melanoma antigen family C, 1							117.0	129.0	125.0					X																	140994645		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994645C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1455C>T	X.37:g.140994645C>T		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S485S	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1741	+	Acute lymphoblastic leukemia(192;6.56e-05)		485					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1455C>T	CCDS35417.1																																																																																				0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	126	0	0	0	0	7	126				
MAGEA6	4105	broad.mit.edu	37	X	151870027	151870027	+	Missense_Mutation	SNP	C	C	G	rs144083108		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chrX:151870027C>G	ENST00000329342.5	+	3	942	c.717C>G	c.(715-717)ttC>ttG	p.F239L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	239	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F239L(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGTATCTTCGGGGATCCCA	0.537																																						uc004ffq.1		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(715-717)TTC>TTG		melanoma antigen family A, 6		G	LEU/PHE,LEU/PHE	0,3834		0,0,1632,570	157.0	152.0	154.0		717,717	-1.2	0.0	X	dbSNP_134	154	1,6727		0,1,2427,1872	no	missense,missense	MAGEA6	NM_005363.2,NM_175868.1	22,22	0,1,4059,2442	GG,GC,CC,C		0.0149,0.0,0.0095	benign,benign	239/315,239/315	151870027	1,10561	2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870027C>G		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.717C>G	X.37:g.151870027C>G	ENSP00000329199:p.Phe239Leu					MAGEA6_uc004ffr.1_Missense_Mutation_p.F239L|MAGEA2_uc010nto.2_Intron	p.F239L	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	911	+	Acute lymphoblastic leukemia(192;6.56e-05)		239			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.717C>G	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	3.282	-0.146853	0.06627	0.0	1.49E-4	ENSG00000197172	ENST00000329342	T	0.04317	3.65	0.605	-1.21	0.09524	.	.	.	.	.	T	0.05135	0.0137	L	0.58810	1.83	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.41251	-0.9519	8	0.56958	D	0.05	.	.	.	.	.	239	P43360	MAGA6_HUMAN	L	239	ENSP00000329199:F239L	ENSP00000329199:F239L	F	+	3	2	MAGEA6	151620683	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.446000	0.02398	-1.215000	0.02610	-1.114000	0.02060	TTC		0.537	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		10	124	0	0	0	0	10	124				
DRGX	644168	broad.mit.edu	37	10	50574313	50574313	+	Frame_Shift_Del	DEL	G	G	-	rs370735058		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr10:50574313delG	ENST00000374139.2	-	6	650	c.640delC	c.(640-642)cgcfs	p.R214fs	DRGX_ENST00000434016.1_Frame_Shift_Del_p.R219fs			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	214					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GAGTGCTCGCGGGCCTTCATG	0.672																																						uc010qgq.1		NA																	0					0						c.(655-657)CGCfs		dorsal root ganglia homeobox							55.0	65.0	62.0					10																	50574313		2142	4230	6372	SO:0001589	frameshift_variant	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50574313delG		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.640delC	10.37:g.50574313delG	ENSP00000363254:p.Arg214fs						p.R219fs	NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN			6	655	-			219						Frame_Shift_Del	DEL	ENST00000374139.2	37	c.655delC																																																																																					0.672	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		11	111	NA	NA	NA	NA	11	111	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	49014769	49014769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr19:49014769delG	ENST00000600059.1	-	1	292	c.65delC	c.(64-66)ccgfs	p.P22fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P51fs|CTC-273B12.10_ENST00000598924.1_lincRNA			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	22					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGGTGGGCCGGGGACGCCAG	0.741																																						uc002pjk.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(151-153)CCGfs		lemur tyrosine kinase 3							5.0	7.0	7.0					19																	49014769		1787	3878	5665	SO:0001589	frameshift_variant	114783							g.chr19:49014769delG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.65delC	19.37:g.49014769delG	ENSP00000472020:p.Pro22fs						p.P51fs	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	2	152	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37	c.152delC																																																																																					0.741	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		2	4	NA	NA	NA	NA	2	4	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127796926	127796926	+	Frame_Shift_Del	DEL	G	G	-	rs373735607		TCGA-D6-6824-01A-11D-1912-08	TCGA-D6-6824-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b658aa3f-0812-4812-8254-816d9a4d7c04	99a009ec-e31a-4a1a-bce5-d8027db9eaaa	g.chr6:127796926delG	ENST00000525778.1	-	6	2990	c.2245delC	c.(2245-2247)cgcfs	p.R749fs	SOGA3_ENST00000465909.2_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000556132.1_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.R749fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	749					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCGCTGTCGCGGGGGCTGCCG	0.692																																						uc003qbd.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(2245-2247)CGCfs		hypothetical protein LOC387104 precursor							46.0	53.0	51.0					6																	127796926		2142	4262	6404	SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127796926delG	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2245delC	6.37:g.127796926delG	ENSP00000434570:p.Arg749fs					C6orf174_uc003qbc.2_5'Flank	p.R749fs	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3110	-			749						Frame_Shift_Del	DEL	ENST00000525778.1	37	c.2245delC	CCDS43505.1																																																																																				0.692	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		9	165	NA	NA	NA	NA	9	165	---	---	---	---
