#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
PRAMEF4	400735	broad.mit.edu	37	1	12939818	12939818	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:12939818C>T	ENST00000235349.5	-	4	1054	c.984G>A	c.(982-984)ctG>ctA	p.L328L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	328					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCAGGTCCAGGGTCTTTA	0.448																																						uc001aun.2		NA																	0				ovary(1)	1						c.(982-984)CTG>CTA		PRAME family member 4							4.0	4.0	4.0					1																	12939818		822	1798	2620	SO:0001819	synonymous_variant	400735							g.chr1:12939818C>T		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.984G>A	1.37:g.12939818C>T							p.L328L	NM_001009611	NP_001009611	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1055	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	328			LRR 4.		Q5LJB5	Silent	SNP	ENST00000235349.5	37	c.984G>A	CCDS30592.1																																																																																				0.448	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		58	80	0	0	0	0	58	80				
FBXO42	54455	broad.mit.edu	37	1	16580134	16580134	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:16580134G>T	ENST00000375592.3	-	7	1076	c.860C>A	c.(859-861)tCt>tAt	p.S287Y		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	287										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GAGCACCTGAGATTGGCCACC	0.517																																						uc001ayg.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(859-861)TCT>TAT		F-box protein 42							58.0	52.0	54.0					1																	16580134		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16580134G>T	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.860C>A	1.37:g.16580134G>T	ENSP00000364742:p.Ser287Tyr					FBXO42_uc001aye.3_5'UTR|FBXO42_uc001ayf.2_Missense_Mutation_p.S194Y	p.S287Y	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	7	1076	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	287			Kelch 3.		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.860C>A	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882241	0.91740	.	.	ENSG00000037637	ENST00000375592	T	0.69926	-0.44	5.83	5.83	0.93111	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.64404	1.975	0.80722	D	1	D	0.65815	0.995	D	0.65010	0.931	T	0.80808	-0.1217	10	0.87932	D	0	-17.0003	19.1256	0.93382	0.0:0.0:1.0:0.0	.	287	Q6P3S6	FBX42_HUMAN	Y	287	ENSP00000364742:S287Y	ENSP00000364742:S287Y	S	-	2	0	FBXO42	16452721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.064000	0.93933	2.763000	0.94921	0.563000	0.77884	TCT		0.517	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			12	17	1	0	5.51e-06	6.38e-06	12	17				
KIF17	57576	broad.mit.edu	37	1	20992741	20992741	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:20992741G>A	ENST00000247986.2	-	14	3187	c.2877C>T	c.(2875-2877)agC>agT	p.S959S	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.S958S|KIF17_ENST00000375044.1_Silent_p.S859S			Q9P2E2	KIF17_HUMAN	kinesin family member 17	959					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGAGGATCTGGCTGGCCCGCT	0.577																																						uc001bdr.3		NA																	0				ovary(3)|skin(1)	4						c.(2875-2877)AGC>AGT		kinesin family member 17 isoform a							181.0	152.0	162.0					1																	20992741		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:20992741G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2877C>T	1.37:g.20992741G>A						KIF17_uc001bdp.3_Silent_p.S236S|KIF17_uc001bdq.3_Silent_p.S237S|KIF17_uc009vpx.2_Silent_p.S329S|KIF17_uc001bds.3_Silent_p.S958S	p.S959S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	14	2995	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	959					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.2877C>T	CCDS213.1																																																																																				0.577	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		31	43	0	0	0	0	31	43				
ZC3H12A	80149	broad.mit.edu	37	1	37948750	37948750	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:37948750G>A	ENST00000373087.6	+	6	1454	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAGAGCCAGATGTCGGAAC	0.647																																						uc001cbb.3		NA																	0				ovary(2)	2						c.(1336-1338)CAG>CAA		zinc finger CCCH-type containing 12A							24.0	29.0	27.0					1																	37948750		2202	4299	6501	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948750G>A		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1338G>A	1.37:g.37948750G>A						ZC3H12A_uc001cbc.1_Silent_p.Q241Q	p.Q446Q	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			6	1488	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	446						Silent	SNP	ENST00000373087.6	37	c.1338G>A	CCDS417.1																																																																																				0.647	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		3	44	0	0	0	0	3	44				
PRKAA2	5563	broad.mit.edu	37	1	57170082	57170082	+	Missense_Mutation	SNP	G	G	C	rs537248815		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:57170082G>C	ENST00000371244.4	+	7	1293	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	409					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TCCGAAGTCAGAGCAAACCGT	0.408																																						uc001cyk.3		NA																	0				breast(4)|ovary(1)|stomach(1)	6						c.(1225-1227)CAG>CAC		AMP-activated protein kinase alpha 2 catalytic							89.0	92.0	91.0					1																	57170082		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57170082G>C	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1227G>C	1.37:g.57170082G>C	ENSP00000360290:p.Gln409His						p.Q409H	NM_006252	NP_006243	P54646	AAPK2_HUMAN			7	1298	+			409					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1227G>C	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587776	0.66105	.	.	ENSG00000162409	ENST00000371244	T	0.74002	-0.8	6.17	1.81	0.25067	.	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85333	0.1091	10	0.62326	D	0.03	-18.8271	10.2122	0.43147	0.3993:0.0:0.6007:0.0	.	409	P54646	AAPK2_HUMAN	H	409	ENSP00000360290:Q409H	ENSP00000360290:Q409H	Q	+	3	2	PRKAA2	56942670	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.781000	0.38644	0.338000	0.23692	0.655000	0.94253	CAG		0.408	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		41	34	0	0	0	0	41	34				
C8B	732	broad.mit.edu	37	1	57399015	57399015	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:57399015G>A	ENST00000371237.4	-	10	1611	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	C8B_ENST00000535057.1_Silent_p.V453V|C8B_ENST00000543257.1_Silent_p.V463V	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	515	EGF-like.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCTTTCAGGACAGGGACTC	0.552																																						uc001cyp.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(1543-1545)GTC>GTT		complement component 8, beta polypeptide							89.0	79.0	82.0					1																	57399015		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57399015G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1545C>T	1.37:g.57399015G>A						C8B_uc010oon.1_Silent_p.V453V|C8B_uc010ooo.1_Silent_p.V463V	p.V515V	NM_000066	NP_000057	P07358	CO8B_HUMAN			10	1612	-			515			EGF-like.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.1545C>T	CCDS30730.1																																																																																				0.552	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			17	30	0	0	0	0	17	30				
LHX8	431707	broad.mit.edu	37	1	75622595	75622595	+	Silent	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:75622595T>C	ENST00000294638.5	+	9	1492	c.828T>C	c.(826-828)tgT>tgC	p.C276C	LHX8_ENST00000356261.3_Silent_p.C266C	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	276					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTCAGAATTGTAGAGCACGCC	0.473																																						uc001dgo.2		NA																	0				ovary(3)	3						c.(826-828)TGT>TGC		LIM homeobox 8							244.0	228.0	234.0					1																	75622595		2203	4300	6503	SO:0001819	synonymous_variant	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622595T>C	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.828T>C	1.37:g.75622595T>C						LHX8_uc001dgq.2_Silent_p.C215C	p.C276C	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			9	1492	+			276			Homeobox.		E9PGE3	Silent	SNP	ENST00000294638.5	37	c.828T>C	CCDS30756.1																																																																																				0.473	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		42	43	0	0	0	0	42	43				
SLC44A5	204962	broad.mit.edu	37	1	75716976	75716976	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:75716976G>A	ENST00000370855.5	-	7	377	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SLC44A5_ENST00000370859.3_Silent_p.N88N|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	88					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAATGGTCTTGTTCCTGTTAA	0.378																																						uc001dgu.2		NA																	0				ovary(2)|skin(2)	4						c.(262-264)AAC>AAT		solute carrier family 44, member 5 isoform A							98.0	88.0	91.0					1																	75716976		2203	4300	6503	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75716976G>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.264C>T	1.37:g.75716976G>A						SLC44A5_uc001dgt.2_Silent_p.N88N|SLC44A5_uc001dgs.2_Silent_p.N46N|SLC44A5_uc001dgr.2_Silent_p.N46N|SLC44A5_uc010oqz.1_Silent_p.N127N|SLC44A5_uc010ora.1_Silent_p.N82N|SLC44A5_uc010orb.1_5'UTR	p.N88N	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			7	408	-			88			Extracellular (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.264C>T	CCDS667.1																																																																																				0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		13	26	0	0	0	0	13	26				
S1PR1	1901	broad.mit.edu	37	1	101705535	101705535	+	Missense_Mutation	SNP	C	C	A	rs7549921	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:101705535C>A	ENST00000305352.6	+	2	1370	c.995C>A	c.(994-996)cCg>cAg	p.P332Q		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	332			P -> R (in dbSNP:rs7549921).		actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.P332Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGCAAGTGCCCGAGCGGAGAC	0.557																																						uc001dud.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(994-996)CCG>CAG		sphingosine-1-phosphate receptor 1							126.0	131.0	129.0					1																	101705535		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705535C>A	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.995C>A	1.37:g.101705535C>A	ENSP00000305416:p.Pro332Gln					S1PR1_uc009weg.2_Missense_Mutation_p.P332Q	p.P332Q	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	1509	+			332			Cytoplasmic (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.995C>A	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824652	0.50739	.	.	ENSG00000170989	ENST00000305352	T	0.37235	1.21	5.24	5.24	0.73138	.	0.329868	0.33813	N	0.004521	T	0.17704	0.0425	L	0.27053	0.805	0.32856	D	0.507286	P	0.35684	0.515	B	0.35607	0.206	T	0.08351	-1.0726	10	0.41790	T	0.15	.	18.8226	0.92103	0.0:1.0:0.0:0.0	.	332	P21453	S1PR1_HUMAN	Q	332	ENSP00000305416:P332Q	ENSP00000305416:P332Q	P	+	2	0	S1PR1	101478123	0.822000	0.29219	0.959000	0.39883	0.874000	0.50279	2.481000	0.45215	2.436000	0.82500	0.305000	0.20034	CCG		0.557	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		68	92	1	0	1.44e-31	2.09e-31	68	92				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NA																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	161	0	0	0	0	4	161				
LCE1A	353131	broad.mit.edu	37	1	152800095	152800095	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:152800095A>G	ENST00000335123.2	+	1	147	c.147A>G	c.(145-147)ggA>ggG	p.G49G		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	49	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGCTCCGGAGGCTGCTGTG	0.672																																						uc010pdw.1		NA																	0				ovary(1)|skin(1)	2						c.(145-147)GGA>GGG		late cornified envelope 1A							41.0	47.0	45.0					1																	152800095		2203	4300	6503	SO:0001819	synonymous_variant	353131				keratinization			g.chr1:152800095A>G		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.147A>G	1.37:g.152800095A>G							p.G49G	NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	147	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		49			Cys-rich.			Silent	SNP	ENST00000335123.2	37	c.147A>G	CCDS1028.1																																																																																				0.672	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		20	39	0	0	0	0	20	39				
ATP8B2	57198	broad.mit.edu	37	1	154318808	154318808	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:154318808G>C	ENST00000368489.3	+	25	2979	c.2979G>C	c.(2977-2979)caG>caC	p.Q993H		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	979					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCATCGCCCAGGGCATCTACA	0.562																																						uc001fex.2		NA																	0				ovary(1)|skin(1)	2						c.(2977-2979)CAG>CAC		ATPase, class I, type 8B, member 2 isoform a							102.0	93.0	96.0					1																	154318808		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154318808G>C	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2979G>C	1.37:g.154318808G>C	ENSP00000357475:p.Gln993His						p.Q993H	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		25	2979	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		979			Helical; (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2979G>C	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	0.393	-0.922179	0.02396	.	.	ENSG00000143515	ENST00000368489	T	0.53423	0.62	4.34	1.19	0.21007	.	0.237462	0.35235	N	0.003357	T	0.04272	0.0118	N	0.00894	-1.105	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.29971	-0.9994	10	0.07990	T	0.79	.	4.3964	0.11365	0.3027:0.0:0.5348:0.1625	.	993	P98198-3	.	H	993	ENSP00000357475:Q993H	ENSP00000357475:Q993H	Q	+	3	2	ATP8B2	152585432	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.112000	0.31172	0.455000	0.26910	-0.258000	0.10820	CAG		0.562	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		22	52	0	0	0	0	22	52				
SPTA1	6708	broad.mit.edu	37	1	158624459	158624459	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:158624459G>T	ENST00000368147.4	-	21	3158	c.2978C>A	c.(2977-2979)cCc>cAc	p.P993H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	993	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					GACTTCTCGGGGGCTGCGGGC	0.468																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2977-2979)CCC>CAC		spectrin, alpha, erythrocytic 1							81.0	81.0	81.0					1																	158624459		1949	4135	6084	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.chr1:158624459G>T	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.2978C>A	1.37:g.158624459G>T	ENSP00000357129:p.Pro993His						p.P993H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			21	3177	-	all_hematologic(112;0.0378)		993			SH3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2978C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301310	0.60195	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.32988	1.43;1.43	5.22	-1.1	0.09872	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	2.861760	0.01788	N	0.032155	T	0.32071	0.0817	L	0.55481	1.735	0.30204	N	0.798343	D	0.53885	0.963	D	0.64877	0.93	T	0.09773	-1.0659	10	0.45353	T	0.12	.	10.0708	0.42332	0.0:0.1411:0.4133:0.4455	.	993	P02549	SPTA1_HUMAN	H	993	ENSP00000357130:P993H;ENSP00000357129:P993H	ENSP00000357129:P993H	P	-	2	0	SPTA1	156891083	1.000000	0.71417	0.011000	0.14972	0.981000	0.71138	3.067000	0.50010	-0.368000	0.08040	0.591000	0.81541	CCC		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		11	25	1	0	9.31e-06	1.07e-05	11	25				
OR6K3	391114	broad.mit.edu	37	1	158687951	158687951	+	Start_Codon_SNP	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:158687951C>G	ENST00000368146.1	-	1	2	c.3G>C	c.(1-3)atG>atC	p.M1I	OR6K3_ENST00000368145.1_5'Flank			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TAGTCCAGCACATGAGAGGGT	0.373																																						uc010pip.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1-3)ATG>ATC		olfactory receptor, family 6, subfamily K,							37.0	35.0	36.0					1																	158687951		2203	4300	6503	SO:0001582	initiator_codon_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687951C>G	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.3G>C	1.37:g.158687951C>G	ENSP00000357128:p.Met1Ile						p.M1I	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	3	-	all_hematologic(112;0.0378)		1			Extracellular (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.3G>C		.	.	.	.	.	.	.	.	.	.	C	7.974	0.749759	0.15778	.	.	ENSG00000203757	ENST00000368146	T	0.00000	9.94	2.88	1.84	0.25277	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14671	-1.0464	7	.	.	.	.	7.1571	0.25643	0.0:0.7188:0.2812:0.0	.	1	Q8NGY3	OR6K3_HUMAN	I	1	ENSP00000357128:M1I	.	M	-	3	0	OR6K3	156954575	0.001000	0.12720	0.009000	0.14445	0.077000	0.17291	0.790000	0.26900	1.642000	0.50584	0.440000	0.28878	ATG		0.373	OR6K3-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	16	33	0	0	0	0	16	33				
SELP	6403	broad.mit.edu	37	1	169572441	169572441	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:169572441A>G	ENST00000263686.6	-	10	1565	c.1528T>C	c.(1528-1530)Tgc>Cgc	p.C510R	SELP_ENST00000367788.2_Missense_Mutation_p.C448R|SELP_ENST00000367791.2_Missense_Mutation_p.C386R|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.C448R|SELP_ENST00000367793.2_Missense_Mutation_p.C448R|SELP_ENST00000367786.2_Missense_Mutation_p.C448R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	510	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AAAGGTGTGCAGGGAATGGCT	0.443																																						uc001ggi.3		NA																	0				ovary(2)|skin(2)	4						c.(1528-1530)TGC>CGC		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						115.0	109.0	111.0					1																	169572441		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169572441A>G	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1528T>C	1.37:g.169572441A>G	ENSP00000263686:p.Cys510Arg					SELP_uc001ggh.2_Missense_Mutation_p.C345R|SELP_uc009wvr.2_Missense_Mutation_p.C510R	p.C510R	NM_003005	NP_002996	P16109	LYAM3_HUMAN			10	1593	-	all_hematologic(923;0.208)		510			Extracellular (Potential).|Sushi 6.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1528T>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576184	0.28092	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.9	4.76	0.60689	Complement control module (2);Sushi/SCR/CCP (3);	0.181151	0.40222	N	0.001150	D	0.99866	0.9937	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.96994	0.9724	10	0.87932	D	0	-20.8461	10.1462	0.42764	0.8322:0.1678:0.0:0.0	.	510;510;510	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	R	386;510;509;510;510;448;448;386;448;448;433	ENSP00000263686:C510R;ENSP00000356767:C448R;ENSP00000356768:C448R;ENSP00000356765:C386R;ENSP00000356762:C448R;ENSP00000356760:C448R	ENSP00000263686:C510R	C	-	1	0	SELP	167839065	0.997000	0.39634	0.194000	0.23346	0.046000	0.14306	4.996000	0.63914	1.026000	0.39733	0.528000	0.53228	TGC		0.443	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		17	62	0	0	0	0	17	62				
SELP	6403	broad.mit.edu	37	1	169586578	169586578	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:169586578G>C	ENST00000263686.6	-	3	206	c.169C>G	c.(169-171)Cgt>Ggt	p.R57G	SELP_ENST00000367788.2_Missense_Mutation_p.R57G|SELP_ENST00000367791.2_Missense_Mutation_p.R57G|SELP_ENST00000367792.2_Missense_Mutation_p.R57G|SELP_ENST00000458599.2_Missense_Mutation_p.R57G|SELP_ENST00000367794.2_Missense_Mutation_p.R57G|SELP_ENST00000367793.2_Missense_Mutation_p.R57G|SELP_ENST00000367786.2_Missense_Mutation_p.R57G	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	57					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CAGTATTTACGGGAAATATTC	0.408																																						uc001ggi.3		NA																	0				ovary(2)|skin(2)	4						c.(169-171)CGT>GGT		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						139.0	125.0	130.0					1																	169586578		2203	4299	6502	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586578G>C	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.169C>G	1.37:g.169586578G>C	ENSP00000263686:p.Arg57Gly					SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.R57G	p.R57G	NM_003005	NP_002996	P16109	LYAM3_HUMAN			3	234	-	all_hematologic(923;0.208)		57			Extracellular (Potential).		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.169C>G	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.489034|3.489034	0.64074|0.64074	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.20069	.|2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.9|5.9	4.98|4.98	0.66077|0.66077	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.000000	.|0.47852	.|D	.|0.000207	T|T	0.50701|0.50701	0.1631|0.1631	H|H	0.95294|0.95294	3.65|3.65	0.48975|0.48975	D|D	0.999731|0.999731	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.68372|0.68372	-0.5426|-0.5426	5|10	.|0.87932	.|D	.|0	-28.3189|-28.3189	14.1985|14.1985	0.65686|0.65686	0.0:0.0:0.8492:0.1508|0.0:0.0:0.8492:0.1508	.|.	.|57;57	.|Q6NUL9;P16109	.|.;LYAM3_HUMAN	R|G	56|57;57;56;57;57;57;57;57;57;57;57;57;42	.|ENSP00000263686:R57G;ENSP00000356767:R57G;ENSP00000356768:R57G;ENSP00000356766:R57G;ENSP00000356765:R57G;ENSP00000356762:R57G;ENSP00000356760:R57G	.|ENSP00000263686:R57G	P|R	-|-	2|1	0|0	SELP|SELP	167853202|167853202	0.950000|0.950000	0.32346|0.32346	0.641000|0.641000	0.29422|0.29422	0.003000|0.003000	0.03518|0.03518	0.898000|0.898000	0.28404|0.28404	1.483000|1.483000	0.48342|0.48342	-0.309000|-0.309000	0.09137|0.09137	CCG|CGT		0.408	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		46	104	0	0	0	0	46	104				
METTL13	51603	broad.mit.edu	37	1	171756906	171756906	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:171756906G>T	ENST00000361735.3	+	4	1411	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	METTL13_ENST00000362019.3_Missense_Mutation_p.G296V|METTL13_ENST00000367737.5_Missense_Mutation_p.G226V|METTL13_ENST00000458517.1_Missense_Mutation_p.G381V	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	382							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGGGACATTGGGGTCCGGACC	0.502																																						uc001ghz.2		NA																	0				kidney(1)	1						c.(1144-1146)GGG>GTG		CGI-01 protein isoform 1							60.0	56.0	57.0					1																	171756906		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171756906G>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1145G>T	1.37:g.171756906G>T	ENSP00000354920:p.Gly382Val					METTL13_uc001gia.2_Missense_Mutation_p.G296V|METTL13_uc001gib.2_Missense_Mutation_p.G226V|METTL13_uc010pml.1_Missense_Mutation_p.G381V	p.G382V	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			4	1492	+			382					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1145G>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470192	0.84533	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.86510	0.5950	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.974;1.0;1.0	D	0.83990	0.0337	10	0.35671	T	0.21	-26.4035	19.4378	0.94804	0.0:0.0:1.0:0.0	.	381;226;382	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	V	381;296;226;382	ENSP00000401955:G381V;ENSP00000355393:G296V;ENSP00000356711:G226V;ENSP00000354920:G382V	ENSP00000354920:G382V	G	+	2	0	METTL13	170023529	1.000000	0.71417	0.956000	0.39512	0.794000	0.44872	9.466000	0.97665	2.688000	0.91661	0.655000	0.94253	GGG		0.502	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		12	27	1	0	1.05e-09	1.34e-09	12	27				
RC3H1	149041	broad.mit.edu	37	1	173907909	173907909	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:173907909C>A	ENST00000367696.2	-	20	3703	c.3352G>T	c.(3352-3354)Gat>Tat	p.D1118Y	RC3H1_ENST00000258349.4_Missense_Mutation_p.D1118Y|RC3H1_ENST00000367694.2_Missense_Mutation_p.D1110Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1118					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCATTATTATCCCCTCCTCCC	0.463																																						uc001gju.3		NA																	0				ovary(2)	2						c.(3352-3354)GAT>TAT		roquin							121.0	118.0	119.0					1																	173907909		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173907909C>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.3352G>T	1.37:g.173907909C>A	ENSP00000356669:p.Asp1118Tyr					RC3H1_uc010pms.1_Missense_Mutation_p.D1109Y|RC3H1_uc001gjv.2_Missense_Mutation_p.D1110Y|RC3H1_uc010pmt.1_Missense_Mutation_p.D1119Y	p.D1118Y	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			19	3439	-			1118					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.3352G>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969321	0.53614	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.47869	0.83;0.83;0.83	5.94	5.94	0.96194	.	0.283297	0.38837	N	0.001552	T	0.49712	0.1573	N	0.19112	0.55	0.48571	D	0.999674	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.70935	0.936;0.936;0.971;0.936	T	0.56171	-0.8023	10	0.87932	D	0	-13.9979	20.3724	0.98894	0.0:1.0:0.0:0.0	.	1119;1109;1110;1118	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	Y	1118;1118;1110	ENSP00000356669:D1118Y;ENSP00000258349:D1118Y;ENSP00000356667:D1110Y	ENSP00000258349:D1118Y	D	-	1	0	RC3H1	172174532	1.000000	0.71417	0.958000	0.39756	0.776000	0.43924	4.152000	0.58111	2.820000	0.97059	0.655000	0.94253	GAT		0.463	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		16	68	1	0	1.57e-10	2.04e-10	16	68				
KCNT2	343450	broad.mit.edu	37	1	196303004	196303004	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:196303004G>C	ENST00000294725.9	-	17	2885	c.1970C>G	c.(1969-1971)cCa>cGa	p.P657R	KCNT2_ENST00000451324.2_Missense_Mutation_p.P268R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.P607R|KCNT2_ENST00000609185.1_Missense_Mutation_p.P607R|KCNT2_ENST00000367433.5_Missense_Mutation_p.P657R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	657					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTCTTCATCTGGTGTAGTTTC	0.353																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(1969-1971)CCA>CGA		potassium channel, subfamily T, member 2							128.0	118.0	122.0					1																	196303004		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196303004G>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1970C>G	1.37:g.196303004G>C	ENSP00000294725:p.Pro657Arg					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.P607R|KCNT2_uc001gtf.1_Missense_Mutation_p.P657R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.P657R|KCNT2_uc001gth.1_Missense_Mutation_p.P178R	p.P657R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			17	2030	-			657			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1970C>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380974	0.42207	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000014	T	0.72269	0.3439	L	0.57536	1.79	0.28025	N	0.934362	B;B;B;B;B	0.33212	0.28;0.402;0.402;0.018;0.28	B;B;B;B;B	0.35114	0.067;0.196;0.142;0.008;0.067	T	0.64179	-0.6468	10	0.20046	T	0.44	-3.3893	18.5214	0.90954	0.0:0.0:1.0:0.0	.	657;639;657;607;657	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	R	657;607;478;268;657	ENSP00000356403:P657R;ENSP00000356401:P607R;ENSP00000405474:P268R;ENSP00000294725:P657R	ENSP00000294725:P657R	P	-	2	0	KCNT2	194569627	0.999000	0.42202	0.983000	0.44433	0.965000	0.64279	5.629000	0.67798	2.606000	0.88127	0.655000	0.94253	CCA		0.353	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		5	24	0	0	0	0	5	24				
CFHR2	3080	broad.mit.edu	37	1	196882035	196882035	+	Intron	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:196882035C>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Missense_Mutation_p.A70V|CFHR4_ENST00000367418.2_Missense_Mutation_p.A141V|CFHR4_ENST00000367416.2_Missense_Mutation_p.A387V|CFHR4_ENST00000251424.4_Missense_Mutation_p.A141V			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GGATGGTCAGCACAACCAATT	0.308																																						uc001gto.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(421-423)GCA>GTA		complement factor H-related 4 precursor							94.0	101.0	98.0					1																	196882035		2203	4297	6500	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196882035C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-36550C>T	1.37:g.196882035C>T						CFHR4_uc009wyy.2_Missense_Mutation_p.A387V|CFHR4_uc001gtp.2_Missense_Mutation_p.A388V	p.A141V	NM_006684	NP_006675	Q92496	FHR4_HUMAN			3	491	+			141			Sushi 2.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.422C>T		.	.	.	.	.	.	.	.	.	.	C	0.667	-0.803332	0.02841	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.65549	-0.16;-0.16;-0.16	2.11	-3.57	0.04612	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.64724	0.2624	L	0.55743	1.74	0.09310	N	1	P;D;P	0.60160	0.786;0.987;0.811	P;P;B	0.62649	0.546;0.905;0.433	T	0.56505	-0.7968	9	0.52906	T	0.07	.	3.8881	0.09107	0.5962:0.253:0.0:0.1508	.	387;388;141	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	V	387;141;141;141	ENSP00000356386:A387V;ENSP00000356388:A141V;ENSP00000251424:A141V	ENSP00000251424:A141V	A	+	2	0	CFHR4	195148658	0.000000	0.05858	0.002000	0.10522	0.254000	0.26022	-1.775000	0.01783	-0.939000	0.03709	0.205000	0.17691	GCA		0.308	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		35	95	0	0	0	0	35	95				
CRB1	23418	broad.mit.edu	37	1	197390936	197390936	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:197390936T>A	ENST00000367400.3	+	6	2113	c.1978T>A	c.(1978-1980)Tct>Act	p.S660T	CRB1_ENST00000367397.1_Missense_Mutation_p.S41T|CRB1_ENST00000535699.1_Missense_Mutation_p.S591T|CRB1_ENST00000544212.1_Missense_Mutation_p.S141T|CRB1_ENST00000538660.1_Missense_Mutation_p.S660T|CRB1_ENST00000367399.2_Missense_Mutation_p.S548T|CRB1_ENST00000543483.1_Silent_p.R289R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	660	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAACATCTCGTCTGGCTCATC	0.443																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(1978-1980)TCT>ACT		crumbs homolog 1 precursor							129.0	124.0	125.0					1																	197390936		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390936T>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1978T>A	1.37:g.197390936T>A	ENSP00000356370:p.Ser660Thr					CRB1_uc010poz.1_Missense_Mutation_p.S591T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.S548T|CRB1_uc010ppb.1_Missense_Mutation_p.S660T|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.S141T|CRB1_uc001gub.1_Missense_Mutation_p.S309T	p.S660T	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	2113	+			660			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1978T>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	8.875	0.950261	0.18431	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.8	-1.9	0.07665	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.76069	0.3936	M	0.78916	2.43	0.09310	N	1	D;P;P;P;P	0.54601	0.967;0.897;0.897;0.763;0.835	P;P;P;B;B	0.48089	0.476;0.566;0.494;0.382;0.341	T	0.65965	-0.6040	9	0.19147	T	0.46	.	7.3389	0.26625	0.0:0.3798:0.2227:0.3975	.	660;591;548;309;660	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	591;660;660;548;141;41;309	ENSP00000438786:S591T;ENSP00000438091:S660T;ENSP00000356370:S660T;ENSP00000356369:S548T;ENSP00000444556:S141T;ENSP00000356367:S41T	ENSP00000356367:S41T	S	+	1	0	CRB1	195657559	0.192000	0.23301	0.000000	0.03702	0.002000	0.02628	0.167000	0.16602	-0.349000	0.08274	-0.297000	0.09499	TCT		0.443	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		35	68	0	0	0	0	35	68				
PLXNA2	5362	broad.mit.edu	37	1	208218554	208218554	+	Splice_Site	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:208218554C>T	ENST00000367033.3	-	19	4254	c.3497G>A	c.(3496-3498)gGc>gAc	p.G1166D		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1166	IPT/TIG 4.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGGTTTTTGCCCTGTAGAGA	0.498																																						uc001hgz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3496-3498)GGC>GAC		plexin A2 precursor							117.0	106.0	110.0					1																	208218554		2203	4300	6503	SO:0001630	splice_region_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208218554C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3496-1G>A	1.37:g.208218554C>T							p.G1166D	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	19	4255	-			1166			IPT/TIG 4.|Extracellular (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3497G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002818	0.93287	.	.	ENSG00000076356	ENST00000367033	D	0.98164	-4.76	5.11	5.11	0.69529	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.176324	0.64402	D	0.000013	D	0.99284	0.9750	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98922	1.0784	10	0.87932	D	0	.	18.5719	0.91138	0.0:1.0:0.0:0.0	.	1166	O75051	PLXA2_HUMAN	D	1166	ENSP00000356000:G1166D	ENSP00000356000:G1166D	G	-	2	0	PLXNA2	206285177	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.538000	0.82048	2.375000	0.81037	0.563000	0.77884	GGC		0.498	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	Missense_Mutation	3	77	0	0	0	0	3	77				
LYST	1130	broad.mit.edu	37	1	235850334	235850334	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:235850334G>A	ENST00000389794.3	-	48	10889	c.10715C>T	c.(10714-10716)gCt>gTt	p.A3572V	LYST_ENST00000389793.2_Missense_Mutation_p.A3572V|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3572					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGGCACCCAAGCACAACTAGT	0.363																																						uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(10714-10716)GCT>GTT		lysosomal trafficking regulator							107.0	101.0	103.0					1																	235850334		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235850334G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10715C>T	1.37:g.235850334G>A	ENSP00000374444:p.Ala3572Val					LYST_uc001hxi.2_Missense_Mutation_p.A796V	p.A3572V	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		48	10890	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3572			WD 3.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10715C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465524	0.96257	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.34072	1.38;1.38	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	D	0.65140	0.932	T	0.14952	-1.0454	10	0.21540	T	0.41	.	20.139	0.98050	0.0:0.0:1.0:0.0	.	3572	Q99698	LYST_HUMAN	V	3572	ENSP00000374444:A3572V;ENSP00000374443:A3572V	ENSP00000374443:A3572V	A	-	2	0	LYST	233916957	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.712000	0.84684	2.764000	0.94973	0.655000	0.94253	GCT		0.363	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			4	92	0	0	0	0	4	92				
RGS7	6000	broad.mit.edu	37	1	240979618	240979618	+	Splice_Site	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:240979618T>A	ENST00000407727.1	-	10	781	c.782A>T	c.(781-783)cAg>cTg	p.Q261L	RGS7_ENST00000401882.1_Splice_Site_p.Q208L|RGS7_ENST00000446183.2_Splice_Site_p.Q177L|RGS7_ENST00000348120.2_Splice_Site_p.Q208L|RGS7_ENST00000366562.4_Splice_Site_p.Q261L|RGS7_ENST00000366565.1_Splice_Site_p.Q261L|RGS7_ENST00000366563.1_Splice_Site_p.Q261L|RGS7_ENST00000366564.1_Splice_Site_p.Q261L|RGS7_ENST00000331110.7_Splice_Site_p.Q235L			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	261	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACTCACCTGTTGTTGTAA	0.373																																						uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(781-783)CAG>CTG		regulator of G-protein signaling 7							260.0	233.0	242.0					1																	240979618		2203	4300	6503	SO:0001630	splice_region_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240979618T>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.783+1A>T	1.37:g.240979618T>A						RGS7_uc010pyh.1_Missense_Mutation_p.Q235L|RGS7_uc010pyj.1_Missense_Mutation_p.Q177L|RGS7_uc001hyu.2_Missense_Mutation_p.Q261L|RGS7_uc009xgn.1_Missense_Mutation_p.Q208L|RGS7_uc001hyw.2_Missense_Mutation_p.Q261L|RGS7_uc001hyt.2_Missense_Mutation_p.Q93L	p.Q261L	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		11	1112	-		all_cancers(173;0.0131)	261			G protein gamma.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.782A>T		.	.	.	.	.	.	.	.	.	.	T	16.51	3.142786	0.57044	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	6.07	6.07	0.98685	G-protein gamma domain (4);	0.059622	0.64402	D	0.000002	T	0.33118	0.0852	L	0.58428	1.81	0.58432	D	0.999998	B;B;P;B;P;B;B	0.41008	0.221;0.136;0.735;0.064;0.609;0.015;0.433	B;B;P;B;B;B;P	0.47299	0.309;0.217;0.543;0.096;0.346;0.015;0.477	T	0.02202	-1.1196	10	0.54805	T	0.06	-6.4723	15.8218	0.78654	0.0:0.0:0.0:1.0	.	177;235;208;261;261;261;261	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	L	235;261;261;261;92;208;177;261;261;208	ENSP00000331485:Q235L;ENSP00000355523:Q261L;ENSP00000355522:Q261L;ENSP00000355521:Q261L;ENSP00000404399:Q92L;ENSP00000341242:Q208L;ENSP00000390138:Q177L;ENSP00000355520:Q261L;ENSP00000384428:Q261L;ENSP00000385508:Q208L	ENSP00000331485:Q235L	Q	-	2	0	RGS7	239046241	1.000000	0.71417	0.999000	0.59377	0.501000	0.33797	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	CAG		0.373	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	Missense_Mutation	30	91	0	0	0	0	30	91				
RGS7	6000	broad.mit.edu	37	1	241099909	241099909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:241099909G>T	ENST00000407727.1	-	4	323	c.324C>A	c.(322-324)taC>taA	p.Y108*	RGS7_ENST00000401882.1_Intron|RGS7_ENST00000446183.2_Nonsense_Mutation_p.Y24*|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Nonsense_Mutation_p.Y108*|RGS7_ENST00000366565.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.Y82*			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	108	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTGAAACCGGTAAAAGGTGC	0.403																																						uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(322-324)TAC>TAA		regulator of G-protein signaling 7							78.0	86.0	83.0					1																	241099909		2203	4300	6503	SO:0001587	stop_gained	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241099909G>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.324C>A	1.37:g.241099909G>T	ENSP00000384428:p.Tyr108*					RGS7_uc010pyh.1_Nonsense_Mutation_p.Y82*|RGS7_uc010pyj.1_Nonsense_Mutation_p.Y24*|RGS7_uc001hyu.2_Nonsense_Mutation_p.Y108*|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Nonsense_Mutation_p.Y108*	p.Y108*	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		5	654	-		all_cancers(173;0.0131)	108			DEP.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Nonsense_Mutation	SNP	ENST00000407727.1	37	c.324C>A		.	.	.	.	.	.	.	.	.	.	G	40	8.226620	0.98714	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000446183;ENST00000366562;ENST00000407727	.	.	.	5.52	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4967	7.2283	0.26028	0.3425:0.0:0.6575:0.0	.	.	.	.	X	82;108;108;108;24;108;108	.	ENSP00000331485:Y82X	Y	-	3	2	RGS7	239166532	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.824000	0.39072	0.695000	0.31675	0.563000	0.77884	TAC		0.403	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		15	58	1	0	2.32e-05	2.63e-05	15	58				
OR2T1	26696	broad.mit.edu	37	1	248569749	248569749	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:248569749T>C	ENST00000366474.1	+	1	454	c.454T>C	c.(454-456)Ttc>Ctc	p.F152L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTCAACACTTCCTCTACCT	0.478																																						uc010pzm.1		NA																	0				pancreas(1)	1						c.(454-456)TTC>CTC		olfactory receptor, family 2, subfamily T,							169.0	163.0	165.0					1																	248569749		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569749T>C	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.454T>C	1.37:g.248569749T>C	ENSP00000355430:p.Phe152Leu						p.F152L	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	454	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		152			Helical; Name=3; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.454T>C	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	t	26.5	4.740426	0.89573	.	.	ENSG00000175143	ENST00000366474	T	0.00448	7.38	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38381	U	0.001709	T	0.00608	0.0020	L	0.39020	1.185	0.43018	D	0.994569	D	0.61080	0.989	P	0.58721	0.844	D	0.86484	0.1793	10	0.62326	D	0.03	.	13.3845	0.60789	0.0:0.0:0.0:1.0	.	152	O43869	OR2T1_HUMAN	L	152	ENSP00000355430:F152L	ENSP00000355430:F152L	F	+	1	0	OR2T1	246636372	0.498000	0.26075	1.000000	0.80357	0.970000	0.65996	2.582000	0.46085	1.993000	0.58246	0.528000	0.53228	TTC		0.478	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			43	104	0	0	0	0	43	104				
TAF3	83860	broad.mit.edu	37	10	8006137	8006137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:8006137C>T	ENST00000344293.5	+	3	870	c.664C>T	c.(664-666)Caa>Taa	p.Q222*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	222					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AATAAATACTCAAAAGATCCC	0.507																																						uc010qbd.1		NA																	0				ovary(1)	1						c.(664-666)CAA>TAA		RNA polymerase II transcription factor TAFII140							87.0	88.0	87.0					10																	8006137		1955	4142	6097	SO:0001587	stop_gained	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006137C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.664C>T	10.37:g.8006137C>T	ENSP00000340271:p.Gln222*						p.Q222*	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			3	664	+			222					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	ENST00000344293.5	37	c.664C>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118672	0.77323	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	.	.	.	5.67	5.67	0.87782	.	0.088563	0.47852	D	0.000206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-24.1312	19.7681	0.96350	0.0:1.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000340271:Q222X	Q	+	1	0	TAF3	8046143	1.000000	0.71417	0.264000	0.24511	0.012000	0.07955	7.286000	0.78671	2.686000	0.91538	0.655000	0.94253	CAA		0.507	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		27	46	0	0	0	0	27	46				
ARHGAP12	94134	broad.mit.edu	37	10	32197132	32197132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:32197132C>A	ENST00000344936.2	-	3	886	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000375250.5_Nonsense_Mutation_p.E218*	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	218					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTGCTAAGTTCATCACCAGAT	0.378																																						uc001ivz.1		NA																	0					0						c.(652-654)GAA>TAA		Rho GTPase activating protein 12							67.0	66.0	66.0					10																	32197132		2203	4300	6503	SO:0001587	stop_gained	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32197132C>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.652G>T	10.37:g.32197132C>A	ENSP00000345808:p.Glu218*					ARHGAP12_uc001ivy.1_Nonsense_Mutation_p.E216*|ARHGAP12_uc009xls.2_Nonsense_Mutation_p.E216*|ARHGAP12_uc001iwb.1_Nonsense_Mutation_p.E216*|ARHGAP12_uc001iwc.1_Nonsense_Mutation_p.E216*|ARHGAP12_uc009xlq.1_Nonsense_Mutation_p.E216*|ARHGAP12_uc001iwd.1_Nonsense_Mutation_p.E216*|ARHGAP12_uc009xlr.1_Nonsense_Mutation_p.E216*	p.E218*	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			3	922	-		Prostate(175;0.0199)	218					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Nonsense_Mutation	SNP	ENST00000344936.2	37	c.652G>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	40	8.242345	0.98722	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.1544	0.93504	0.0:1.0:0.0:0.0	.	.	.	.	X	218	.	ENSP00000310984:E218X	E	-	1	0	ARHGAP12	32237138	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.445000	0.80570	2.593000	0.87608	0.655000	0.94253	GAA		0.378	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			16	56	1	0	6.72e-11	8.78e-11	16	56				
ZNF33A	7581	broad.mit.edu	37	10	38345088	38345088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:38345088G>A	ENST00000458705.2	+	5	2191	c.2033G>A	c.(2032-2034)gGa>gAa	p.G678E	ZNF33A_ENST00000374618.3_Missense_Mutation_p.G679E|ZNF33A_ENST00000307441.9_Missense_Mutation_p.G678E|ZNF33A_ENST00000432900.2_Missense_Mutation_p.G685E|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	678					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTAAAATCAGGACTTATTTTC	0.388																																						uc001izh.2		NA																	0				ovary(2)|skin(1)	3						c.(2032-2034)GGA>GAA		zinc finger protein 33A isoform b							102.0	103.0	102.0					10																	38345088		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38345088G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2033G>A	10.37:g.38345088G>A	ENSP00000387713:p.Gly678Glu					ZNF33A_uc001izg.2_Missense_Mutation_p.G679E|ZNF33A_uc010qev.1_Missense_Mutation_p.G685E|ZNF33A_uc001izi.1_Intron	p.G678E	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	2211	+			678			C2H2-type 13.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.2033G>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.391619	0.01185	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.00958	5.5;5.5;5.5;5.5	1.92	0.748	0.18376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31577	N	0.007406	T	0.01353	0.0044	L	0.31157	0.91	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.991	D;D;P	0.68039	0.943;0.955;0.74	T	0.52087	-0.8622	10	0.11182	T	0.66	.	2.8176	0.05461	0.2025:0.3042:0.4933:0.0	.	685;678;679	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	E	679;685;678;678	ENSP00000363747:G679E;ENSP00000402467:G685E;ENSP00000387713:G678E;ENSP00000304268:G678E	ENSP00000304268:G678E	G	+	2	0	ZNF33A	38385094	0.000000	0.05858	0.986000	0.45419	0.090000	0.18270	-0.189000	0.09629	1.044000	0.40200	0.313000	0.20887	GGA		0.388	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		20	92	0	0	0	0	20	92				
RBP3	5949	broad.mit.edu	37	10	48387902	48387902	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:48387902G>T	ENST00000224600.4	-	1	3089	c.2976C>A	c.(2974-2976)ctC>ctA	p.L992L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	992	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTCTCCGGAGAGCATCTGCA	0.602																																						uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2974-2976)CTC>CTA		retinol-binding protein 3 precursor	Vitamin A(DB00162)						102.0	104.0	103.0					10																	48387902		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48387902G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2976C>A	10.37:g.48387902G>T							p.L992L	NM_002900	NP_002891	P10745	RET3_HUMAN			1	3090	-			992			4 X approximate tandem repeats.|4.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.2976C>A	CCDS7218.1																																																																																				0.602	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		31	91	1	0	6.04e-23	8.63e-23	31	91				
VSTM4	196740	broad.mit.edu	37	10	50255051	50255051	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50255051T>A	ENST00000332853.4	-	7	837	c.814A>T	c.(814-816)Aaa>Taa	p.K272*		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTCTGTGGTTTCAGCAGCTTC	0.468																																						uc001jhf.2		NA																	0					0						c.(814-816)AAA>TAA		hypothetical protein LOC196740 isoform 1							350.0	314.0	326.0					10																	50255051		2203	4300	6503	SO:0001587	stop_gained	196740					integral to membrane|plasma membrane		g.chr10:50255051T>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.814A>T	10.37:g.50255051T>A	ENSP00000331062:p.Lys272*						p.K272*	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			7	843	-			272			Cytoplasmic (Potential).		B4DNI6|Q96MX7	Nonsense_Mutation	SNP	ENST00000332853.4	37	c.814A>T	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936012	0.73442	.	.	ENSG00000165633	ENST00000332853	.	.	.	5.92	5.92	0.95590	.	0.051529	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.2141	13.74	0.62842	0.0:0.0:0.0:1.0	.	.	.	.	X	272	.	ENSP00000331062:K272X	K	-	1	0	VSTM4	49925057	1.000000	0.71417	0.994000	0.49952	0.084000	0.17831	4.026000	0.57232	2.268000	0.75426	0.454000	0.30748	AAA		0.468	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		5	174	0	0	0	0	5	174				
SLC18A3	6572	broad.mit.edu	37	10	50820091	50820091	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50820091G>A	ENST00000374115.3	+	1	1745	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	435					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACGCGCTCGGGCCCATAGTGG	0.627																																						uc001jhw.2		NA																	0				ovary(2)	2						c.(1303-1305)GGG>GGA		vesicular acetylcholine transporter							49.0	37.0	41.0					10																	50820091		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820091G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1305G>A	10.37:g.50820091G>A						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.G435G	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1745	+			435			Helical; (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.1305G>A	CCDS7231.1																																																																																				0.627	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		10	18	0	0	0	0	10	18				
CHAT	1103	broad.mit.edu	37	10	50828553	50828553	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50828553T>G	ENST00000337653.2	+	4	745	c.592T>G	c.(592-594)Tgg>Ggg	p.W198G	CHAT_ENST00000339797.1_Missense_Mutation_p.W80G|CHAT_ENST00000395562.2_Missense_Mutation_p.W116G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000351556.3_Missense_Mutation_p.W80G|CHAT_ENST00000395559.2_Missense_Mutation_p.W80G|CHAT_ENST00000455728.2_Missense_Mutation_p.W80G	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	198					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GTCTGAGTACTGGCTGAATGA	0.597																																						uc001jhz.2		NA																	0				central_nervous_system(3)	3						c.(592-594)TGG>GGG		choline acetyltransferase isoform 2	Choline(DB00122)						142.0	124.0	130.0					10																	50828553		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50828553T>G	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.592T>G	10.37:g.50828553T>G	ENSP00000337103:p.Trp198Gly					CHAT_uc001jhv.1_Missense_Mutation_p.W80G|CHAT_uc001jhx.1_Missense_Mutation_p.W80G|CHAT_uc001jhy.1_Missense_Mutation_p.W80G|CHAT_uc001jia.2_Missense_Mutation_p.W80G|CHAT_uc010qgs.1_Missense_Mutation_p.W80G	p.W198G	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	4	745	+		all_neural(218;0.107)	198					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.592T>G	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484472	0.84854	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08;-5.08	5.55	5.55	0.83447	.	0.058507	0.64402	D	0.000001	D	0.99453	0.9806	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98258	1.0497	10	0.87932	D	0	-14.3359	15.684	0.77393	0.0:0.0:0.0:1.0	.	80;198	F8W8I2;P28329	.;CLAT_HUMAN	G	80;80;80;198;116;80	ENSP00000343486:W80G;ENSP00000345878:W80G;ENSP00000378926:W80G;ENSP00000337103:W198G;ENSP00000378929:W116G;ENSP00000390521:W80G	ENSP00000337103:W198G	W	+	1	0	CHAT	50498559	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.932000	0.87634	2.107000	0.64212	0.379000	0.24179	TGG		0.597	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		40	85	0	0	0	0	40	85				
P4HA1	5033	broad.mit.edu	37	10	74813238	74813238	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:74813238T>A	ENST00000307116.2	-	6	690	c.574A>T	c.(574-576)Agg>Tgg	p.R192W	P4HA1_ENST00000394890.2_Missense_Mutation_p.R192W|P4HA1_ENST00000373008.2_Missense_Mutation_p.R192W|P4HA1_ENST00000412021.2_Missense_Mutation_p.R192W|P4HA1_ENST00000440381.1_Missense_Mutation_p.R192W|P4HA1_ENST00000263556.3_Missense_Mutation_p.R192W			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	192					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCAGTTGCCTTAGGGCTTGT	0.443																																					Colon(147;367 2405 2662 52127)	uc010qka.1		NA																	0				ovary(1)	1						c.(574-576)AGG>TGG		prolyl 4-hydroxylase, alpha I subunit isoform 2	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						162.0	154.0	157.0					10																	74813238		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74813238T>A		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.574A>T	10.37:g.74813238T>A	ENSP00000307318:p.Arg192Trp					P4HA1_uc001jtg.2_Missense_Mutation_p.R192W|P4HA1_uc001jth.2_Missense_Mutation_p.R192W|P4HA1_uc010qkb.1_Missense_Mutation_p.R192W|P4HA1_uc001jti.2_RNA	p.R192W	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN			7	908	-	Prostate(51;0.0198)		192					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.574A>T		.	.	.	.	.	.	.	.	.	.	T	16.62	3.172673	0.57584	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.47869	0.83;0.84;0.83;0.83;0.84;0.83	5.02	3.84	0.44239	Tetratricopeptide-like helical (1);	0.424204	0.28921	N	0.013714	T	0.47637	0.1456	L	0.52905	1.665	0.20764	N	0.99985	P;P;P	0.42456	0.499;0.78;0.78	B;B;B	0.43990	0.325;0.438;0.287	T	0.42832	-0.9428	10	0.87932	D	0	-5.0153	11.5994	0.50993	0.0:0.0:0.1495:0.8505	.	192;192;192	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	W	192	ENSP00000307318:R192W;ENSP00000362099:R192W;ENSP00000411688:R192W;ENSP00000378353:R192W;ENSP00000263556:R192W;ENSP00000414464:R192W	ENSP00000263556:R192W	R	-	1	2	P4HA1	74483244	0.625000	0.27111	0.556000	0.28293	0.986000	0.74619	3.577000	0.53885	0.716000	0.32124	0.459000	0.35465	AGG		0.443	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		37	90	0	0	0	0	37	90				
PLCE1	51196	broad.mit.edu	37	10	95791541	95791541	+	Silent	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:95791541T>C	ENST00000371380.3	+	1	973	c.738T>C	c.(736-738)aaT>aaC	p.N246N	PLCE1_ENST00000260766.3_Silent_p.N246N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	246					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATTGTGATAATAAGAATGAGC	0.398																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(736-738)AAT>AAC		phospholipase C, epsilon 1 isoform 1							88.0	82.0	84.0					10																	95791541		1930	4143	6073	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791541T>C		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.738T>C	10.37:g.95791541T>C						PLCE1_uc010qnx.1_Silent_p.N246N	p.N246N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			2	1372	+		Colorectal(252;0.0458)	246					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.738T>C	CCDS41552.1																																																																																				0.398	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		21	25	0	0	0	0	21	25				
CYP2C9	1559	broad.mit.edu	37	10	96702062	96702062	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:96702062G>A	ENST00000260682.6	+	3	457	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	149					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCAAGAGGAAGCCCGCTGCCT	0.502																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3		NA																	0				skin(4)|ovary(2)	6						c.(445-447)GCC>ACC		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						158.0	151.0	153.0					10																	96702062		2203	4298	6501	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96702062G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.445G>A	10.37:g.96702062G>A	ENSP00000260682:p.Ala149Thr					CYP2C9_uc009xut.2_Missense_Mutation_p.A149T|CYP2C9_uc001kjz.2_Missense_Mutation_p.A149T	p.A149T	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	3	470	+		Colorectal(252;0.0902)	149					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.445G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	16.86	3.240587	0.58995	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.71461	-0.57	3.54	3.54	0.40534	.	0.160302	0.42294	U	0.000736	T	0.82176	0.4980	M	0.79475	2.455	0.34824	D	0.738996	P;P;D	0.63880	0.944;0.944;0.993	P;P;D	0.69824	0.9;0.9;0.966	D	0.87920	0.2703	10	0.56958	D	0.05	.	12.9354	0.58311	0.0:0.0:1.0:0.0	.	149;149;149	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	T	149	ENSP00000260682:A149T	ENSP00000260682:A149T	A	+	1	0	CYP2C9	96692052	0.976000	0.34144	0.651000	0.29564	0.533000	0.34776	0.720000	0.25896	1.950000	0.56595	0.484000	0.47621	GCC		0.502	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		34	41	0	0	0	0	34	41				
SHOC2	8036	broad.mit.edu	37	10	112724466	112724466	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:112724466C>G	ENST00000369452.4	+	2	695	c.350C>G	c.(349-351)tCa>tGa	p.S117*	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S117*	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	117					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		ATATTGCCATCATCAATCAAA	0.383																																						uc001kzl.3		NA																	0				ovary(1)|skin(1)	2						c.(349-351)TCA>TGA		soc-2 suppressor of clear homolog							83.0	83.0	83.0					10																	112724466		2203	4300	6503	SO:0001587	stop_gained	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724466C>G	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.350C>G	10.37:g.112724466C>G	ENSP00000358464:p.Ser117*					SHOC2_uc009xxx.2_Nonsense_Mutation_p.S117*|SHOC2_uc010qrg.1_Intron|SHOC2_uc001kzn.2_Nonsense_Mutation_p.S117*	p.S117*	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	699	+			117			LRR 1.		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Nonsense_Mutation	SNP	ENST00000369452.4	37	c.350C>G	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	C	38	6.874143	0.97901	.	.	ENSG00000108061	ENST00000265277;ENST00000369452	.	.	.	5.85	5.85	0.93711	.	0.248249	0.42294	D	0.000721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	13.3805	0.60764	0.0:0.9285:0.0:0.0715	.	.	.	.	X	117	.	ENSP00000265277:S117X	S	+	2	0	SHOC2	112714456	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.091000	0.71406	2.771000	0.95319	0.561000	0.74099	TCA		0.383	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		27	47	0	0	0	0	27	47				
DMBT1	1755	broad.mit.edu	37	10	124336232	124336232	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:124336232T>A	ENST00000338354.3	+	7	707	c.601T>A	c.(601-603)Tgc>Agc	p.C201S	DMBT1_ENST00000344338.3_Missense_Mutation_p.C201S|DMBT1_ENST00000368909.3_Missense_Mutation_p.C201S|DMBT1_ENST00000330163.4_Missense_Mutation_p.C201S|DMBT1_ENST00000368956.2_Missense_Mutation_p.C201S|DMBT1_ENST00000359586.6_Missense_Mutation_p.C201S|DMBT1_ENST00000368955.3_Missense_Mutation_p.C201S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	201	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGTGTTATCTGCTCAGGTAG	0.552																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(601-603)TGC>AGC		deleted in malignant brain tumors 1 isoform b							107.0	104.0	105.0					10																	124336232		2045	4193	6238	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336232T>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.601T>A	10.37:g.124336232T>A	ENSP00000342210:p.Cys201Ser					DMBT1_uc001lgl.1_Missense_Mutation_p.C201S|DMBT1_uc001lgm.1_Missense_Mutation_p.C201S|DMBT1_uc009xzz.1_Missense_Mutation_p.C201S|DMBT1_uc010qtx.1_Missense_Mutation_p.C201S|DMBT1_uc009yaa.1_Missense_Mutation_p.C53S	p.C201S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			7	707	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	201			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.601T>A		.	.	.	.	.	.	.	.	.	.	t	22.9	4.354746	0.82243	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	D;D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	4.63	4.63	0.57726	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	D	0.98526	0.9508	H	0.97707	4.06	0.47778	D	0.99951	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.961;0.996;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;1.0;0.953;0.999;1.0	D	0.99632	1.0986	9	0.87932	D	0	.	14.3417	0.66630	0.0:0.0:0.0:1.0	.	201;201;201;201;201;201	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	S	201	ENSP00000342210:C201S;ENSP00000343175:C201S;ENSP00000327747:C201S;ENSP00000357905:C201S;ENSP00000357951:C201S;ENSP00000357952:C201S;ENSP00000352593:C201S	ENSP00000331522:C201S	C	+	1	0	DMBT1	124326222	1.000000	0.71417	0.958000	0.39756	0.853000	0.48598	5.955000	0.70306	1.853000	0.53794	0.533000	0.62120	TGC		0.552	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		21	31	0	0	0	0	21	31				
MGMT	4255	broad.mit.edu	37	10	131565234	131565234	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:131565234G>A	ENST00000306010.7	+	5	722	c.690G>A	c.(688-690)tcG>tcA	p.S230S	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	199					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	GAGCTACCTCGGGCTCCCCGC	0.632								Direct reversal of damage																														uc001lkh.2		NA																	0				ovary(1)|breast(1)	2						c.(688-690)TCG>TCA	Direct_reversal_of_damage	O-6-methylguanine-DNA methyltransferase							28.0	30.0	29.0					10																	131565234		2202	4300	6502	SO:0001819	synonymous_variant	4255							g.chr10:131565234G>A	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.690G>A	10.37:g.131565234G>A							p.S230S	NM_002412	NP_002403	P16455	MGMT_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	5	716	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	199					Q5VY78	Silent	SNP	ENST00000306010.7	37	c.690G>A	CCDS7660.2																																																																																				0.632	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		15	17	0	0	0	0	15	17				
MUC5B	727897	broad.mit.edu	37	11	1271213	1271213	+	Missense_Mutation	SNP	C	C	T	rs555257212		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:1271213C>T	ENST00000529681.1	+	31	13161	c.13103C>T	c.(13102-13104)aCg>aTg	p.T4368M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4371M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4368	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTGACCACGAAGGCCACC	0.642													-|||	1	0.000199681	0.0	0.0	5008	,	,		18685	0.0		0.0	False		,,,				2504	0.001					uc009ycr.1		NA																	0					0						c.(14521-14523)ACG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							91.0	109.0	103.0					11																	1271213		2126	4219	6345	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271213C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13103C>T	11.37:g.1271213C>T	ENSP00000436812:p.Thr4368Met					MUC5B_uc001ltb.2_Missense_Mutation_p.T4371M	p.T4841M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	14648	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4368			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14522C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	4.778	0.144718	0.09134	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.25250	1.81;1.98	2.88	-3.33	0.04958	.	.	.	.	.	T	0.25232	0.0613	L	0.54323	1.7	0.09310	N	1	D;D	0.64830	0.994;0.994	P;P	0.51193	0.662;0.662	T	0.21484	-1.0244	9	0.87932	D	0	.	0.8629	0.01197	0.4016:0.2808:0.1641:0.1536	.	4841;4371	A7Y9J9;E9PBJ0	.;.	M	4368;4371;4312;4218;147	ENSP00000436812:T4368M;ENSP00000415793:T4371M	ENSP00000343037:T4312M	T	+	2	0	MUC5B	1227789	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.133000	0.10451	-0.130000	0.11599	0.184000	0.17185	ACG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	78	0	0	0	0	10	78				
OR52E4	390081	broad.mit.edu	37	11	5906037	5906037	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:5906037G>T	ENST00000316987.2	+	1	537	c.515G>T	c.(514-516)gGg>gTg	p.G172V		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATTCTGTGGGCATAACATC	0.453																																						uc010qzs.1		NA																	0				ovary(2)	2						c.(514-516)GGG>GTG		olfactory receptor, family 52, subfamily E,							171.0	155.0	161.0					11																	5906037		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906037G>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.515G>T	11.37:g.5906037G>T	ENSP00000321426:p.Gly172Val					TRIM5_uc001mbq.1_Intron	p.G172V	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	515	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	172			Extracellular (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.515G>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096321	0.56075	.	.	ENSG00000180974	ENST00000316987	T	0.38401	1.14	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000104	T	0.67192	0.2867	H	0.94183	3.505	0.50632	D	0.999884	D	0.56521	0.976	D	0.67548	0.952	T	0.75227	-0.3392	10	0.51188	T	0.08	.	12.4755	0.55811	0.0814:0.0:0.9186:0.0	.	172	Q8NGH9	O52E4_HUMAN	V	172	ENSP00000321426:G172V	ENSP00000321426:G172V	G	+	2	0	OR52E4	5862613	0.000000	0.05858	0.933000	0.37362	0.980000	0.70556	0.302000	0.19192	1.395000	0.46643	0.643000	0.83706	GGG		0.453	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		32	57	1	0	8.74e-17	1.2e-16	32	57				
NRIP3	56675	broad.mit.edu	37	11	9009771	9009771	+	Missense_Mutation	SNP	C	C	A	rs374509418		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:9009771C>A	ENST00000309166.3	-	2	346	c.233G>T	c.(232-234)aGc>aTc	p.S78I	NRIP3_ENST00000531090.1_Missense_Mutation_p.S78I	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	78							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ACGGGGACCGCTTCGGAGCTT	0.493																																						uc001mhg.2		NA																	0					0						c.(232-234)AGC>ATC		nuclear receptor interacting protein 3							136.0	126.0	129.0					11																	9009771		2201	4296	6497	SO:0001583	missense	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9009771C>A	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.233G>T	11.37:g.9009771C>A	ENSP00000310205:p.Ser78Ile					NRIP3_uc010rbu.1_Missense_Mutation_p.S78I	p.S78I	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	2	347	-			78					Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	c.233G>T	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631373	0.46944	.	.	ENSG00000175352	ENST00000309166;ENST00000531090;ENST00000525100	T	0.44083	0.93	6.06	4.17	0.49024	.	0.234092	0.51477	D	0.000084	T	0.27933	0.0688	L	0.36672	1.1	0.33850	D	0.632488	B	0.14438	0.01	B	0.11329	0.006	T	0.21621	-1.0240	10	0.27082	T	0.32	-28.0814	5.7298	0.18032	0.0:0.6601:0.1732:0.1667	.	78	Q9NQ35	NRIP3_HUMAN	I	78;78;71	ENSP00000310205:S78I	ENSP00000310205:S78I	S	-	2	0	NRIP3	8966347	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.835000	0.27531	2.876000	0.98609	0.655000	0.94253	AGC		0.493	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		42	54	1	0	2.27e-22	3.23e-22	42	54				
WEE1	7465	broad.mit.edu	37	11	9598747	9598747	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:9598747G>T	ENST00000450114.2	+	5	1331	c.1078G>T	c.(1078-1080)Gtt>Ttt	p.V360F	WEE1_ENST00000299613.6_Missense_Mutation_p.V146F|snoU13_ENST00000458785.1_RNA	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTCTCATGTAGTTCGATATTT	0.358																																						uc001mhs.2		NA																	0				central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5						c.(1078-1080)GTT>TTT		WEE1 tyrosine kinase isoform 1							153.0	148.0	150.0					11																	9598747		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9598747G>T	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1078G>T	11.37:g.9598747G>T	ENSP00000402084:p.Val360Phe					WEE1_uc001mht.2_Missense_Mutation_p.V146F|WEE1_uc001mhu.2_Missense_Mutation_p.V146F	p.V360F	NM_003390	NP_003381	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	5	1331	+			360			Protein kinase.		B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.1078G>T	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	G	35	5.572344	0.96553	.	.	ENSG00000166483	ENST00000450114;ENST00000299613	T;T	0.58506	0.33;0.33	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86977	0.6063	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91703	0.5375	10	0.87932	D	0	-17.1869	20.0401	0.97581	0.0:0.0:1.0:0.0	.	168;360	Q6MZL0;P30291	.;WEE1_HUMAN	F	360;146	ENSP00000402084:V360F;ENSP00000299613:V146F	ENSP00000299613:V146F	V	+	1	0	WEE1	9555323	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.431000	0.97494	2.805000	0.96524	0.655000	0.94253	GTT		0.358	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		35	61	1	0	5.83e-16	8.01e-16	35	61				
SAAL1	113174	broad.mit.edu	37	11	18112026	18112026	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:18112026T>A	ENST00000524803.1	-	5	477	c.428A>T	c.(427-429)cAc>cTc	p.H143L	SAAL1_ENST00000529318.1_Missense_Mutation_p.H143L|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.H143L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	143										breast(2)|large_intestine(5)|lung(8)	15						ATACAAACAGTGCAATAACAC	0.333																																						uc001mnq.2		NA																	0					0						c.(427-429)CAC>CTC		serum amyloid A-like 1							44.0	44.0	44.0					11																	18112026		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18112026T>A	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.428A>T	11.37:g.18112026T>A	ENSP00000432487:p.His143Leu					SAAL1_uc001mnr.2_Missense_Mutation_p.H143L|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.H143L	p.H143L	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN			5	478	-			143					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.428A>T	CCDS31439.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.19|10.19	1.283213|1.283213	0.23392|0.23392	.|.	.|.	ENSG00000166788|ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000531751;ENST00000529318|ENST00000530180	T;T;T;T|T	0.30448|0.27402	1.53;1.53;1.53;1.53|1.67	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.356516|.	0.32852|.	N|.	0.005577|.	T|T	0.20251|0.20251	0.0487|0.0487	N|N	0.04959|0.04959	-0.14|-0.14	0.26250|0.26250	N|N	0.978745|0.978745	B;B;B|.	0.06786|.	0.001;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.17992|0.17992	-1.0351|-1.0351	10|7	0.21014|0.72032	T|D	0.42|0.01	-1.4391|-1.4391	10.4648|10.4648	0.44600|0.44600	0.1447:0.0:0.0:0.8553|0.1447:0.0:0.0:0.8553	.|.	143;143;143|.	E9PRZ1;G1UCX3;Q96ER3|.	.;.;SAAL1_HUMAN|.	L|S	143;143;32;143|142	ENSP00000432487:H143L;ENSP00000300013:H143L;ENSP00000436031:H32L;ENSP00000432216:H143L|ENSP00000431489:T142S	ENSP00000300013:H143L|ENSP00000431489:T142S	H|T	-|-	2|1	0|0	SAAL1|SAAL1	18068602|18068602	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.964000|0.964000	0.63967|0.63967	3.953000|3.953000	0.56699|0.56699	2.177000|2.177000	0.69029|0.69029	0.443000|0.443000	0.29094|0.29094	CAC|ACT		0.333	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		3	16	0	0	0	0	3	16				
ARHGAP1	392	broad.mit.edu	37	11	46701258	46701258	+	Missense_Mutation	SNP	G	G	A	rs544447260		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:46701258G>A	ENST00000311956.4	-	11	1064	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	323	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGAAGCTCCCGGAGGAAGGTC	0.612																																						uc001ndd.2		NA																	0				skin(1)	1						c.(967-969)CGG>TGG		Rho GTPase activating protein 1							93.0	108.0	103.0					11																	46701258		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46701258G>A	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.967C>T	11.37:g.46701258G>A	ENSP00000310491:p.Arg323Trp						p.R323W	NM_004308	NP_004299	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	11	1036	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	323			Rho-GAP.		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.967C>T	CCDS7922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.84|18.84	3.708402|3.708402	0.68615|0.68615	.|.	.|.	ENSG00000175220|ENSG00000175220	ENST00000528837|ENST00000311956;ENST00000443332	.|T	.|0.28895	.|1.59	5.16|5.16	3.2|3.2	0.36748|0.36748	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.047858	.|0.85682	.|D	.|0.000000	T|T	0.72503|0.72503	0.3468|0.3468	H|H	0.99368|0.99368	4.535|4.535	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.85052|0.85052	0.0929|0.0929	5|10	.|0.87932	.|D	.|0	.|.	14.1016|14.1016	0.65059|0.65059	0.0:0.0:0.6034:0.3966|0.0:0.0:0.6034:0.3966	.|.	.|323	.|Q07960	.|RHG01_HUMAN	L|W	276|323	.|ENSP00000310491:R323W	.|ENSP00000310491:R323W	P|R	-|-	2|1	0|2	ARHGAP1|ARHGAP1	46657834|46657834	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.968000|0.968000	0.65278|0.65278	2.676000|2.676000	0.46883|0.46883	1.174000|1.174000	0.42811|0.42811	-0.475000|-0.475000	0.04921|0.04921	CCG|CGG		0.612	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		15	80	0	0	0	0	15	80				
AGBL2	79841	broad.mit.edu	37	11	47712048	47712048	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:47712048T>A	ENST00000525123.1	-	10	1496	c.1211A>T	c.(1210-1212)cAa>cTa	p.Q404L	AGBL2_ENST00000528244.1_Missense_Mutation_p.Q366L|AGBL2_ENST00000298861.4_Missense_Mutation_p.Q404L|AGBL2_ENST00000357610.3_Missense_Mutation_p.Q404L|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	404						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAGGTAGCATTGCAAATCAGT	0.468																																						uc001ngg.2		NA																	0				ovary(2)	2						c.(1210-1212)CAA>CTA		carboxypeptidase 2, cytosolic							160.0	136.0	144.0					11																	47712048		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47712048T>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1211A>T	11.37:g.47712048T>A	ENSP00000435582:p.Gln404Leu					AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.Q366L|AGBL2_uc001ngh.1_Missense_Mutation_p.Q348L	p.Q404L	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			9	1311	-			404					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.1211A>T	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021916	0.75275	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.57	4.44	0.53790	.	0.050602	0.85682	D	0.000000	T	0.39200	0.1069	M	0.62154	1.92	0.53005	D	0.999965	P;B;B	0.40931	0.733;0.427;0.427	P;B;B	0.47573	0.55;0.119;0.253	T	0.12016	-1.0564	9	.	.	.	-14.9463	11.4242	0.50001	0.0:0.0706:0.0:0.9294	.	366;366;404	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	L	404;404;404;366	ENSP00000435582:Q404L;ENSP00000350228:Q404L;ENSP00000298861:Q404L;ENSP00000436630:Q366L	.	Q	-	2	0	AGBL2	47668624	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	3.811000	0.55620	1.058000	0.40530	0.533000	0.62120	CAA		0.468	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		14	58	0	0	0	0	14	58				
OR5D18	219438	broad.mit.edu	37	11	55587247	55587247	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:55587247G>T	ENST00000333976.4	+	1	162	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGGGTTGATTGTGATCATCAA	0.458																																						uc010rin.1		NA																	0				skin(2)|ovary(1)	3						c.(142-144)GTG>TTG		olfactory receptor, family 5, subfamily D,							216.0	198.0	204.0					11																	55587247		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587247G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.142G>T	11.37:g.55587247G>T	ENSP00000335025:p.Val48Leu						p.V48L	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	142	+		all_epithelial(135;0.208)	48			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.142G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	1.498	-0.552697	0.03996	.	.	ENSG00000186119	ENST00000333976	T	0.00569	6.52	4.94	0.61	0.17580	GPCR, rhodopsin-like superfamily (1);	0.730031	0.11269	N	0.581735	T	0.00241	0.0007	N	0.03084	-0.415	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.33777	-0.9855	10	0.06236	T	0.91	-3.375	5.6949	0.17851	0.2497:0.2679:0.4824:0.0	.	48	Q8NGL1	OR5DI_HUMAN	L	48	ENSP00000335025:V48L	ENSP00000335025:V48L	V	+	1	0	OR5D18	55343823	0.000000	0.05858	0.009000	0.14445	0.320000	0.28249	-1.791000	0.01758	-0.044000	0.13491	0.632000	0.83419	GTG		0.458	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		27	91	1	0	1.55e-18	2.17e-18	27	91				
OR1S2	219958	broad.mit.edu	37	11	57971606	57971606	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:57971606T>G	ENST00000302592.6	-	1	47	c.48A>C	c.(46-48)caA>caC	p.Q16H		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q16Q(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTTGGTTTTCTTGATGCATAT	0.408																																						uc010rkb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(46-48)CAA>CAC		olfactory receptor, family 1, subfamily S,							137.0	135.0	136.0					11																	57971606		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971606T>G	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.48A>C	11.37:g.57971606T>G	ENSP00000305469:p.Gln16His						p.Q16H	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	48	-		Breast(21;0.0589)	16			Extracellular (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.48A>C	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	T	9.734	1.162990	0.21538	.	.	ENSG00000197887	ENST00000302592	T	0.03065	4.06	4.25	3.08	0.35506	.	0.713329	0.12242	N	0.486458	T	0.05823	0.0152	N	0.17345	0.48	0.26157	N	0.980053	D	0.60160	0.987	P	0.58391	0.838	T	0.40627	-0.9553	10	0.59425	D	0.04	.	6.7293	0.23375	0.0:0.1095:0.0:0.8905	.	16	Q8NGQ3	OR1S2_HUMAN	H	16	ENSP00000305469:Q16H	ENSP00000305469:Q16H	Q	-	3	2	OR1S2	57728182	0.512000	0.26186	0.836000	0.33094	0.028000	0.11728	1.130000	0.31393	0.752000	0.32923	0.528000	0.53228	CAA		0.408	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		11	66	0	0	0	0	11	66				
SLC22A11	55867	broad.mit.edu	37	11	64329824	64329824	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:64329824C>T	ENST00000301891.4	+	4	1112	c.738C>T	c.(736-738)ggC>ggT	p.G246G	SLC22A11_ENST00000377585.3_Silent_p.G246G|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Silent_p.G246G	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	246					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CGGCGCTGGGCGGCCTGGCCT	0.632																																						uc001oai.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(736-738)GGC>GGT		solute carrier family 22 member 11	Probenecid(DB01032)						67.0	72.0	70.0					11																	64329824		2201	4297	6498	SO:0001819	synonymous_variant	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64329824C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.738C>T	11.37:g.64329824C>T						SLC22A11_uc001oah.1_Missense_Mutation_p.R212W|SLC22A11_uc001oaj.2_Silent_p.G246G|SLC22A11_uc009ypq.2_Silent_p.G246G|SLC22A11_uc001oak.1_Silent_p.G75G	p.G246G	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			4	1112	+			246			Helical; (Potential).		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	c.738C>T	CCDS8074.1																																																																																				0.632	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		17	99	0	0	0	0	17	99				
PRCP	5547	broad.mit.edu	37	11	82561547	82561547	+	Splice_Site	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:82561547C>T	ENST00000313010.3	-	4	606	c.412G>A	c.(412-414)Gat>Aat	p.D138N	PRCP_ENST00000393399.2_Splice_Site_p.D159N|PRCP_ENST00000535099.1_Splice_Site_p.D33N	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	138					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGTCTGGAATCCTAAAGAAAT	0.393																																						uc001ozs.2		NA																	0				skin(1)	1						c.(412-414)GAT>AAT		prolylcarboxypeptidase isoform 1 preproprotein							85.0	86.0	86.0					11																	82561547		2203	4300	6503	SO:0001630	splice_region_variant	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82561547C>T	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.412-1G>A	11.37:g.82561547C>T						PRCP_uc001ozr.2_Missense_Mutation_p.D159N	p.D138N	NM_005040	NP_005031	P42785	PCP_HUMAN			4	525	-			138					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.412G>A	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	8.683	0.905671	0.17760	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126	T;T;T;T;T;T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7	5.52	4.58	0.56647	.	0.198301	0.52532	D	0.000062	T	0.12774	0.0310	L	0.35341	1.055	0.52501	D	0.999952	B;B	0.31640	0.008;0.333	B;B	0.35688	0.016;0.208	T	0.11494	-1.0585	9	.	.	.	-21.4905	13.4847	0.61357	0.0:0.9218:0.0:0.0782	.	138;159	P42785;A8MU24	PCP_HUMAN;.	N	138;159;33;33;33;33;33;33;97;33;84;33	ENSP00000317362:D138N;ENSP00000377055:D159N;ENSP00000442077:D33N;ENSP00000432004:D33N;ENSP00000431559:D33N;ENSP00000436141:D33N;ENSP00000431435:D33N;ENSP00000432506:D33N;ENSP00000434771:D97N;ENSP00000435071:D33N;ENSP00000437169:D84N;ENSP00000431496:D33N	.	D	-	1	0	PRCP	82239195	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.466000	0.60148	1.256000	0.44068	0.555000	0.69702	GAT		0.393	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040	Missense_Mutation	21	53	0	0	0	0	21	53				
KBTBD3	143879	broad.mit.edu	37	11	105924356	105924356	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:105924356A>T	ENST00000526793.1	-	3	1219	c.1060T>A	c.(1060-1062)Tgt>Agt	p.C354S	KBTBD3_ENST00000534815.1_Missense_Mutation_p.C275S|KBTBD3_ENST00000531837.1_Missense_Mutation_p.C354S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	350										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GTTCGACAACATTTCCCTTTG	0.428																																						uc001pja.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1060-1062)TGT>AGT		BTB and kelch domain containing 3							103.0	94.0	97.0					11																	105924356		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105924356A>T	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1060T>A	11.37:g.105924356A>T	ENSP00000436262:p.Cys354Ser					KBTBD3_uc001pjb.2_Missense_Mutation_p.C354S|KBTBD3_uc009yxm.2_Missense_Mutation_p.C275S	p.C354S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	1700	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	350			Kelch 2.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1060T>A	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689829	0.29962	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.64438	-0.1;-0.1;-0.1	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	N	0.03608	-0.345	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	T	0.65861	-0.6065	10	0.28530	T	0.3	.	16.4383	0.83889	1.0:0.0:0.0:0.0	.	354;350	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	S	275;354;354	ENSP00000431910:C275S;ENSP00000436262:C354S;ENSP00000432163:C354S	ENSP00000436262:C354S	C	-	1	0	KBTBD3	105429566	1.000000	0.71417	0.990000	0.47175	0.596000	0.36781	8.962000	0.93254	2.287000	0.76781	0.482000	0.46254	TGT		0.428	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		19	36	0	0	0	0	19	36				
C11orf87	399947	broad.mit.edu	37	11	109294845	109294845	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:109294845T>G	ENST00000327419.6	+	2	889	c.486T>G	c.(484-486)tgT>tgG	p.C162W	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	162						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGGGTCCCTGTGCTCCTCCGC	0.672																																						uc001pkn.2		NA																	0				ovary(2)	2						c.(484-486)TGT>TGG		hypothetical protein LOC399947 precursor							41.0	44.0	43.0					11																	109294845		2200	4298	6498	SO:0001583	missense	399947					integral to membrane		g.chr11:109294845T>G	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.486T>G	11.37:g.109294845T>G	ENSP00000331581:p.Cys162Trp					C11orf87_uc010rwb.1_5'Flank	p.C162W	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN			2	860	+			162			Cytoplasmic (Potential).		B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.486T>G	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	T	8.538	0.872614	0.17322	.	.	ENSG00000185742	ENST00000327419	.	.	.	3.7	1.4	0.22301	.	1.030830	0.07809	U	0.957779	T	0.25827	0.0629	N	0.08118	0	0.46260	D	0.998955	P	0.43169	0.8	B	0.37833	0.259	T	0.02444	-1.1158	9	0.72032	D	0.01	0.3008	5.6852	0.17799	0.0:0.3461:0.0:0.6539	.	162	Q6NUJ2	CK087_HUMAN	W	162	.	ENSP00000331581:C162W	C	+	3	2	C11orf87	108800055	0.025000	0.19082	0.988000	0.46212	0.981000	0.71138	0.194000	0.17135	0.291000	0.22468	-0.250000	0.11733	TGT		0.672	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		7	40	0	0	0	0	7	40				
KMT2A	4297	broad.mit.edu	37	11	118343463	118343463	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:118343463G>A	ENST00000389506.5	+	3	1589	c.1589G>A	c.(1588-1590)aGg>aAg	p.R530K	KMT2A_ENST00000354520.4_Missense_Mutation_p.R530K|KMT2A_ENST00000534358.1_Missense_Mutation_p.R530K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	530					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGAAGCAGAAGGTATTCAGTG	0.498																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(1588-1590)AGG>AAG		myeloid/lymphoid or mixed-lineage leukemia							84.0	88.0	87.0					11																	118343463		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118343463G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1589G>A	11.37:g.118343463G>A	ENSP00000374157:p.Arg530Lys					MLL_uc001ptb.2_Missense_Mutation_p.R530K|MLL_uc001psz.1_Missense_Mutation_p.R563K|MLL_uc001ptd.1_Intron	p.R530K	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	3	1612	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	530					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.1589G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751952	0.31046	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.89681	-2.44;3.5;-2.44;-2.55	4.89	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	L	0.34521	1.04	0.47949	D	0.999552	B;B;B	0.32245	0.361;0.361;0.231	B;B;B	0.24541	0.036;0.036;0.054	T	0.81803	-0.0765	10	0.59425	D	0.04	.	15.5084	0.75760	0.0:0.1389:0.8611:0.0	.	530;530;563	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	K	530;563;530;530	ENSP00000436786:R530K;ENSP00000432391:R563K;ENSP00000374157:R530K;ENSP00000346516:R530K	ENSP00000346516:R530K	R	+	2	0	MLL	117848673	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	5.873000	0.69644	1.176000	0.42840	0.491000	0.48974	AGG		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		13	85	0	0	0	0	13	85				
OR6X1	390260	broad.mit.edu	37	11	123625128	123625128	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:123625128G>A	ENST00000327930.2	-	1	125	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGGTTAATATGTAGGTGAGAA	0.423																																						uc010rzy.1		NA																	0				ovary(2)|skin(1)	3						c.(97-99)TAC>TAT		olfactory receptor, family 6, subfamily X,							98.0	94.0	95.0					11																	123625128		2202	4299	6501	SO:0001819	synonymous_variant	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123625128G>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.99C>T	11.37:g.123625128G>A							p.Y33Y	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	99	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	33			Helical; Name=1; (Potential).		B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	c.99C>T	CCDS31695.1																																																																																				0.423	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		13	94	0	0	0	0	13	94				
GLB1L3	112937	broad.mit.edu	37	11	134177072	134177072	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:134177072G>A	ENST00000431683.2	+	10	931	c.931G>A	c.(931-933)Gga>Aga	p.G311R		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	311					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CGACAGATGGGGAGATAAGCA	0.433																																						uc009zdf.2		NA																	0				pancreas(1)	1						c.(931-933)GGA>AGA		galactosidase, beta 1 like 3							134.0	131.0	132.0					11																	134177072		1909	4126	6035	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134177072G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.931G>A	11.37:g.134177072G>A	ENSP00000396615:p.Gly311Arg					GLB1L3_uc010scu.1_Missense_Mutation_p.G12R|GLB1L3_uc001qho.3_RNA	p.G311R	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	10	1291	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	311					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.931G>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973193	0.53614	.	.	ENSG00000166105	ENST00000431683	D	0.98474	-4.95	5.08	5.08	0.68730	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99242	0.9736	H	0.96269	3.795	0.58432	D	0.999995	D	0.69078	0.997	D	0.77557	0.99	D	0.98703	1.0701	9	0.66056	D	0.02	.	14.15	0.65378	0.0:0.0:1.0:0.0	.	311	Q8NCI6	GLBL3_HUMAN	R	311	ENSP00000396615:G311R	ENSP00000396615:G311R	G	+	1	0	GLB1L3	133682282	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	6.553000	0.73918	2.799000	0.96334	0.650000	0.86243	GGA		0.433	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		12	13	0	0	0	0	12	13				
FGF6	2251	broad.mit.edu	37	12	4554546	4554546	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:4554546C>A	ENST00000228837.2	-	1	234	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	64					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCCAGCTAGCCCGGCGCGAGA	0.647																																						uc001qmr.1		NA																	0				lung(2)|ovary(1)	3						c.(190-192)GGG>GTG		fibroblast growth factor 6 precursor							91.0	85.0	87.0					12																	4554546		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4554546C>A	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.191G>T	12.37:g.4554546C>A	ENSP00000228837:p.Gly64Val						p.G64V	NM_020996	NP_066276	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		1	235	-			64					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.191G>T	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598179	0.46318	.	.	ENSG00000111241	ENST00000228837	T	0.25414	1.8	5.0	5.0	0.66597	.	0.247381	0.47455	D	0.000223	T	0.34164	0.0888	L	0.55990	1.75	0.80722	D	1	P	0.45902	0.868	P	0.48770	0.589	T	0.03641	-1.1017	10	0.46703	T	0.11	.	14.0266	0.64590	0.0:0.9244:0.0:0.0756	.	64	P10767	FGF6_HUMAN	V	64	ENSP00000228837:G64V	ENSP00000228837:G64V	G	-	2	0	FGF6	4424807	1.000000	0.71417	0.940000	0.37924	0.515000	0.34225	4.849000	0.62882	2.484000	0.83849	0.561000	0.74099	GGG		0.647	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		21	79	1	0	1.77e-15	2.42e-15	21	79				
KCNA5	3741	broad.mit.edu	37	12	5154798	5154798	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:5154798C>T	ENST00000252321.3	+	1	1714	c.1485C>T	c.(1483-1485)atC>atT	p.I495I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	495					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GGGGCAAGATCGTGGGCTCGC	0.602																																						uc001qni.2		NA																	0				ovary(2)|breast(2)	4						c.(1483-1485)ATC>ATT		potassium voltage-gated channel, shaker-related							119.0	109.0	112.0					12																	5154798		2203	4300	6503	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154798C>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1485C>T	12.37:g.5154798C>T							p.I495I	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1714	+			495			Helical; Name=Segment S6; (Potential).		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.1485C>T	CCDS8536.1																																																																																				0.602	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		25	79	0	0	0	0	25	79				
RERGL	79785	broad.mit.edu	37	12	18234236	18234236	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:18234236G>A	ENST00000229002.2	-	6	713	c.507C>T	c.(505-507)atC>atT	p.I169I	RERGL_ENST00000538724.1_Silent_p.I168I|RERGL_ENST00000541632.1_5'Flank	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	169	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.I169M(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GGATGTCCTTGATAATTCTGA	0.408																																						uc001rdq.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(505-507)ATC>ATT		RERG/RAS-like							123.0	115.0	118.0					12																	18234236		2203	4300	6503	SO:0001819	synonymous_variant	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18234236G>A	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.507C>T	12.37:g.18234236G>A						RERGL_uc001rdr.2_Silent_p.I168I	p.I169I	NM_024730	NP_079006	Q9H628	RERGL_HUMAN			6	701	-			169			Small GTPase-like.			Silent	SNP	ENST00000229002.2	37	c.507C>T	CCDS8679.1																																																																																				0.408	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		21	61	0	0	0	0	21	61				
SLCO1B1	10599	broad.mit.edu	37	12	21350088	21350088	+	Silent	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:21350088C>A	ENST00000256958.2	+	8	1032	c.936C>A	c.(934-936)acC>acA	p.T312T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	312					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CTAATTTGACCAATCAAGGAA	0.323																																						uc001req.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(934-936)ACC>ACA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						69.0	69.0	69.0					12																	21350088		2203	4300	6503	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21350088C>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.936C>A	12.37:g.21350088C>A							p.T312T	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			8	1040	+			312			Cytoplasmic (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.936C>A	CCDS8685.1																																																																																				0.323	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		15	39	1	0	3.46e-05	3.92e-05	15	39				
BICD1	636	broad.mit.edu	37	12	32458869	32458869	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:32458869C>T	ENST00000281474.5	+	4	921	c.818C>T	c.(817-819)gCc>gTc	p.A273V	BICD1_ENST00000548411.1_Missense_Mutation_p.A273V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	273					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CTCAAATTTGCCGAGGATGGG	0.448																																						uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(817-819)GCC>GTC		bicaudal D homolog 1 isoform 1							108.0	101.0	103.0					12																	32458869		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32458869C>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.818C>T	12.37:g.32458869C>T	ENSP00000281474:p.Ala273Val					BICD1_uc001rkv.2_Missense_Mutation_p.A273V|BICD1_uc010skd.1_RNA	p.A273V	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		4	899	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		273					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.818C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715842	0.30413	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.44083	0.93;0.93	4.59	4.59	0.56863	.	0.309835	0.30620	N	0.009235	T	0.38188	0.1031	L	0.50333	1.59	0.33621	D	0.604759	B;B	0.24043	0.066;0.096	B;B	0.25506	0.036;0.061	T	0.47420	-0.9119	10	0.27785	T	0.31	.	14.5325	0.67936	0.0:0.8531:0.1469:0.0	.	273;273	F8W113;Q96G01	.;BICD1_HUMAN	V	273	ENSP00000446793:A273V;ENSP00000281474:A273V	ENSP00000281474:A273V	A	+	2	0	BICD1	32350136	0.016000	0.18221	0.038000	0.18304	0.991000	0.79684	1.656000	0.37355	2.563000	0.86464	0.650000	0.86243	GCC		0.448	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		4	39	0	0	0	0	4	39				
KRT1	3848	broad.mit.edu	37	12	53072487	53072487	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:53072487C>T	ENST00000252244.3	-	2	703	c.645G>A	c.(643-645)ctG>ctA	p.L215L		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	215	Coil 1A.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTACCTGCTGCAGCAGCTCCC	0.463																																						uc001sau.1		NA																	0				ovary(1)|skin(1)	2						c.(643-645)CTG>CTA		keratin 1							89.0	83.0	85.0					12																	53072487		2203	4300	6503	SO:0001819	synonymous_variant	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53072487C>T	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.645G>A	12.37:g.53072487C>T						KRT1_uc001sav.1_Silent_p.L215L	p.L215L	NM_006121	NP_006112	P04264	K2C1_HUMAN			2	704	-			215			Coil 1A.|Rod.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	37	c.645G>A	CCDS8836.1																																																																																				0.463	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		25	51	0	0	0	0	25	51				
KRT18	3875	broad.mit.edu	37	12	53343350	53343350	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:53343350G>A	ENST00000388835.3	+	1	603	c.393G>A	c.(391-393)aaG>aaA	p.K131K	KRT18_ENST00000388837.2_Silent_p.K131K|KRT8_ENST00000549198.1_5'UTR|KRT18_ENST00000550600.1_Silent_p.K131K|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000546897.1_Intron	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	131	Linker 1.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ATTACTTCAAGATCATCGAGG	0.557																																						uc001sbe.2		NA																	0				skin(1)	1						c.(391-393)AAG>AAA		keratin 18							34.0	40.0	38.0					12																	53343350		2155	4275	6430	SO:0001819	synonymous_variant	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53343350G>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.393G>A	12.37:g.53343350G>A						KRT18_uc009zmn.1_Silent_p.K131K|KRT18_uc001sbf.1_5'UTR|KRT18_uc001sbg.2_Silent_p.K131K|KRT18_uc009zmo.2_Silent_p.K131K|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_5'UTR	p.K131K	NM_199187	NP_954657	P05783	K1C18_HUMAN			2	462	+			131			Rod.|Linker 1.|Necessary for interaction with PNN.		Q53G38|Q5U0N8|Q9BW26	Silent	SNP	ENST00000388835.3	37	c.393G>A	CCDS31809.1																																																																																				0.557	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		9	29	0	0	0	0	9	29				
OR6C3	254786	broad.mit.edu	37	12	55726162	55726162	+	Silent	SNP	G	G	T	rs371374392	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:55726162G>T	ENST00000379667.1	+	1	678	c.678G>T	c.(676-678)ccG>ccT	p.P226P		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	226					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGAGAATCCCGTCTGCCAGTC	0.348																																						uc010spj.1		NA																	0				skin(1)	1						c.(676-678)CCG>CCT		olfactory receptor, family 6, subfamily C,							162.0	159.0	160.0					12																	55726162		2202	4300	6502	SO:0001819	synonymous_variant	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55726162G>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.678G>T	12.37:g.55726162G>T							p.P226P	NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN			1	678	+			226			Cytoplasmic (Potential).			Silent	SNP	ENST00000379667.1	37	c.678G>T	CCDS31819.1																																																																																				0.348	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			41	67	1	0	1.23e-20	1.73e-20	41	67				
TSPAN8	7103	broad.mit.edu	37	12	71523125	71523125	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:71523125G>T	ENST00000393330.2	-	11	1198	c.646C>A	c.(646-648)Ctg>Atg	p.L216M	TSPAN8_ENST00000552128.1_Missense_Mutation_p.L133M|TSPAN8_ENST00000247829.3_Missense_Mutation_p.L216M|TSPAN8_ENST00000546561.1_Missense_Mutation_p.L216M			P19075	TSN8_HUMAN	tetraspanin 8	216					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATAACTGCCAGTCCAAATGAT	0.274																																						uc009zrt.1		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(646-648)CTG>ATG		transmembrane 4 superfamily member 3							54.0	55.0	55.0					12																	71523125		2199	4298	6497	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71523125G>T	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.646C>A	12.37:g.71523125G>T	ENSP00000377003:p.Leu216Met					TSPAN8_uc001swk.1_Missense_Mutation_p.L216M|TSPAN8_uc001swj.1_Missense_Mutation_p.L216M	p.L216M	NM_004616	NP_004607	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		7	808	-			216			Helical; (Potential).		B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.646C>A	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775731	0.49786	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.77	-2.03	0.07365	.	0.405179	0.26684	N	0.023036	T	0.66426	0.2788	L	0.55103	1.725	0.28893	N	0.893718	P	0.50943	0.94	B	0.40782	0.34	T	0.63651	-0.6589	10	0.62326	D	0.03	.	0.357	0.00358	0.2315:0.2557:0.2508:0.262	.	216	P19075	TSN8_HUMAN	M	216;216;216;133	ENSP00000377003:L216M;ENSP00000247829:L216M;ENSP00000447160:L216M;ENSP00000449820:L133M	ENSP00000247829:L216M	L	-	1	2	TSPAN8	69809392	0.966000	0.33281	0.952000	0.39060	0.981000	0.71138	-0.171000	0.09883	-0.067000	0.12976	-0.121000	0.15023	CTG		0.274	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		3	21	1	0	1.24e-05	1.41e-05	3	21				
NAV3	89795	broad.mit.edu	37	12	78444759	78444759	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:78444759C>T	ENST00000397909.2	+	11	2521	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	NAV3_ENST00000228327.6_Missense_Mutation_p.T783M|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Missense_Mutation_p.T783M|NAV3_ENST00000536525.2_Missense_Mutation_p.T783M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	783						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGTATACCACGCCTCTCCGT	0.552										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2347-2349)ACG>ATG		neuron navigator 3							66.0	66.0	66.0					12																	78444759		2091	4214	6305	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78444759C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2348C>T	12.37:g.78444759C>T	ENSP00000381007:p.Thr783Met	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.T783M|NAV3_uc010sub.1_Missense_Mutation_p.T283M	p.T783M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			11	2521	+			783					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2348C>T		.	.	.	.	.	.	.	.	.	.	C	16.82	3.229382	0.58777	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.27256	1.79;1.8;1.79;1.68	5.79	5.79	0.91817	.	0.000000	0.41294	U	0.000915	T	0.32734	0.0839	N	0.11313	0.125	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.67231	0.815;0.828;0.95	T	0.20438	-1.0275	10	0.28530	T	0.3	-14.9016	20.031	0.97536	0.0:1.0:0.0:0.0	.	783;783;783	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	M	783	ENSP00000446132:T783M;ENSP00000381007:T783M;ENSP00000228327:T783M;ENSP00000266692:T783M	ENSP00000228327:T783M	T	+	2	0	NAV3	76968890	1.000000	0.71417	0.258000	0.24420	0.474000	0.32979	5.855000	0.69510	2.735000	0.93741	0.655000	0.94253	ACG		0.552	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	30	0	0	0	0	10	30				
TMTC2	160335	broad.mit.edu	37	12	83290168	83290168	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:83290168C>G	ENST00000321196.3	+	3	1933	c.1226C>G	c.(1225-1227)aCg>aGg	p.T409R	TMTC2_ENST00000549919.1_Missense_Mutation_p.T403R|TMTC2_ENST00000548305.1_Missense_Mutation_p.T409R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	409					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.T409R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTTCCTGCCACGAACCTGTTT	0.418																																						uc001szt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1225-1227)ACG>AGG		transmembrane and tetratricopeptide repeat							179.0	181.0	180.0					12																	83290168		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83290168C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1226C>G	12.37:g.83290168C>G	ENSP00000322300:p.Thr409Arg					TMTC2_uc001szr.1_Missense_Mutation_p.T409R|TMTC2_uc001szs.1_Missense_Mutation_p.T409R|TMTC2_uc010suk.1_Missense_Mutation_p.T164R	p.T409R	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			3	1658	+			409			Helical; (Potential).		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1226C>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961960	0.74016	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.42900	0.96;0.96;0.96	5.86	5.86	0.93980	.	0.045313	0.85682	D	0.000000	T	0.56601	0.1996	M	0.64997	1.995	0.80722	D	1	D;P;D	0.58970	0.971;0.933;0.984	P;P;P	0.55999	0.691;0.71;0.789	T	0.57533	-0.7795	10	0.66056	D	0.02	-14.0083	15.6552	0.77129	0.0:0.8636:0.1364:0.0	.	409;164;409	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	R	409;409;403;164	ENSP00000322300:T409R;ENSP00000448292:T409R;ENSP00000447609:T403R	ENSP00000322300:T409R	T	+	2	0	TMTC2	81814299	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.696000	0.68287	2.776000	0.95493	0.650000	0.86243	ACG		0.418	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		10	121	0	0	0	0	10	121				
BTG1	694	broad.mit.edu	37	12	92538007	92538007	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:92538007C>A	ENST00000256015.3	-	2	726	c.365G>T	c.(364-366)tGt>tTt	p.C122F	C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000551843.1_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000551563.2_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	122					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				ATACAGCACACAGATGGAGCC	0.512			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tby.3		NA		Dom	yes		12	12q22	694	T	"""B-cell translocation gene 1, anti-proliferative"""			L	MYC		BCLL		0					0						c.(364-366)TGT>TTT		B-cell translocation protein 1							109.0	99.0	102.0					12																	92538007		2203	4300	6503	SO:0001583	missense	694				cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity	g.chr12:92538007C>A		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.365G>T	12.37:g.92538007C>A	ENSP00000256015:p.Cys122Phe		OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1291	BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|uc001tca.2_5'Flank	p.C122F	NM_001731	NP_001722	P62324	BTG1_HUMAN			2	727	-		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)	122					P31607	Missense_Mutation	SNP	ENST00000256015.3	37	c.365G>T	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491556	0.64074	.	.	ENSG00000133639	ENST00000256015;ENST00000552315	T;T	0.34472	1.81;1.36	5.8	5.8	0.92144	Anti-proliferative protein (2);	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.75243	-0.3386	10	0.87932	D	0	-6.6896	20.0608	0.97674	0.0:1.0:0.0:0.0	.	122	P62324	BTG1_HUMAN	F	122;47	ENSP00000256015:C122F;ENSP00000447551:C47F	ENSP00000256015:C122F	C	-	2	0	BTG1	91062138	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.439000	0.80444	2.733000	0.93635	0.650000	0.86243	TGT		0.512	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			26	71	1	0	4.27e-12	5.67e-12	26	71				
ANKS1B	56899	broad.mit.edu	37	12	99640640	99640640	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:99640640C>T	ENST00000547776.2	-	13	1758	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	ANKS1B_ENST00000329257.7_Missense_Mutation_p.D587N|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D167N|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	587						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.D587Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGGAGAGGTCATCTGCAAAA	0.473																																						uc001tge.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1759-1761)GAC>AAC		cajalin 2 isoform a							110.0	106.0	107.0					12																	99640640		1894	4098	5992	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640640C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1759G>A	12.37:g.99640640C>T	ENSP00000449629:p.Asp587Asn					ANKS1B_uc001tgf.1_Missense_Mutation_p.D167N|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.D553N	p.D587N	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	2176	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	587					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1759G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221572	0.22457	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.59364	1.05;0.27;1.05;0.93	5.76	3.84	0.44239	.	0.422095	0.23391	N	0.048689	T	0.28167	0.0695	N	0.04959	-0.14	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.11329	0.006;0.001;0.001	T	0.23547	-1.0185	9	.	.	.	-12.9042	3.9237	0.09254	0.1665:0.5867:0.1601:0.0867	.	553;167;587	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	N	587;167;587;166;553	ENSP00000449629:D587N;ENSP00000448512:D167N;ENSP00000331381:D587N;ENSP00000449894:D553N	.	D	-	1	0	ANKS1B	98164771	0.511000	0.26179	0.997000	0.53966	0.443000	0.32047	0.695000	0.25527	2.882000	0.98803	0.655000	0.94253	GAC		0.473	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		40	113	0	0	0	0	40	113				
SLC17A8	246213	broad.mit.edu	37	12	100797842	100797842	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:100797842C>A	ENST00000323346.5	+	9	1393	c.1080C>A	c.(1078-1080)caC>caA	p.H360Q	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Missense_Mutation_p.H310Q	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	360					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CAGTCCCACACATGGTTATGA	0.433																																						uc010svi.1		NA																	0				ovary(3)	3						c.(1078-1080)CAC>CAA		solute carrier family 17 (sodium-dependent							116.0	116.0	116.0					12																	100797842		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100797842C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1080C>A	12.37:g.100797842C>A	ENSP00000316909:p.His360Gln					SLC17A8_uc009ztx.2_Missense_Mutation_p.H310Q	p.H360Q	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			9	1393	+			360			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1080C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658829	0.67586	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.57907	0.37;0.37	5.63	3.47	0.39725	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	M	0.83692	2.655	0.58432	D	0.999999	P;D	0.89917	0.933;1.0	P;D	0.80764	0.897;0.994	T	0.76427	-0.2963	10	0.87932	D	0	.	11.6892	0.51505	0.0:0.7851:0.0:0.2149	.	360;310	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	Q	360;310	ENSP00000316909:H360Q;ENSP00000376715:H310Q	ENSP00000316909:H360Q	H	+	3	2	SLC17A8	99321973	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.418000	0.21230	1.374000	0.46228	0.557000	0.71058	CAC		0.433	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		17	45	1	0	2.39e-15	3.26e-15	17	45				
TMEM116	89894	broad.mit.edu	37	12	112374541	112374541	+	Silent	SNP	G	G	A	rs143338734		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:112374541G>A	ENST00000550831.3	-	7	635	c.267C>T	c.(265-267)atC>atT	p.I89I	TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000355445.3_Silent_p.I146I|TMEM116_ENST00000552374.2_Silent_p.I181I|TMEM116_ENST00000354825.3_Silent_p.I89I|TMEM116_ENST00000437003.2_Silent_p.I89I	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	89						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GGAAAATGGCGATACCATAAA	0.473																																						uc001ttc.1		NA																	0				ovary(1)	1						c.(265-267)ATC>ATT		transmembrane protein 116		G	,,	1,4405	2.1+/-5.4	0,1,2202	144.0	129.0	134.0		438,543,267	2.0	0.6	12	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TMEM116	NM_001193453.1,NM_001193531.1,NM_138341.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	146/303,181/338,89/246	112374541	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89894					integral to membrane		g.chr12:112374541G>A	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.267C>T	12.37:g.112374541G>A						TMEM116_uc001ttd.1_Silent_p.I181I|TMEM116_uc001tte.1_Silent_p.I146I|TMEM116_uc001ttf.1_Silent_p.I89I|TMEM116_uc001ttg.1_Intron|TMEM116_uc001tth.1_Intron|TMEM116_uc001tti.1_Silent_p.I181I	p.I89I	NM_138341	NP_612350	Q8NCL8	TM116_HUMAN			10	923	-			89			Helical; (Potential).		G3V1W7|G5E985|Q6NSH5|Q8IZ66	Silent	SNP	ENST00000550831.3	37	c.267C>T	CCDS9157.1																																																																																				0.473	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		20	59	0	0	0	0	20	59				
PITPNM2	57605	broad.mit.edu	37	12	123489976	123489976	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:123489976G>C	ENST00000542749.1	-	5	826	c.763C>G	c.(763-765)Cgt>Ggt	p.R255G	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Missense_Mutation_p.R255G|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R255G|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R255G|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	255					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.R255S(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCCATCTTACGGGAAAGCATG	0.637																																						uc001uej.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(763-765)CGT>GGT		phosphatidylinositol transfer protein,							184.0	147.0	159.0					12																	123489976		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123489976G>C	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.763C>G	12.37:g.123489976G>C	ENSP00000437611:p.Arg255Gly					PITPNM2_uc001uek.1_Missense_Mutation_p.R255G|PITPNM2_uc009zxu.1_Missense_Mutation_p.R255G	p.R255G	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	6	902	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		255					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.763C>G	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262772	0.59431	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.42513	0.97;0.97;0.97	4.72	4.72	0.59763	START-like domain (1);	0.144593	0.47455	D	0.000221	T	0.49457	0.1558	L	0.49350	1.555	0.80722	D	1	B;P;P	0.36990	0.449;0.562;0.577	B;P;B	0.45474	0.201;0.482;0.235	T	0.53549	-0.8423	10	0.59425	D	0.04	-35.4863	18.0446	0.89328	0.0:0.0:1.0:0.0	.	255;255;255	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	G	255	ENSP00000280562:R255G;ENSP00000322218:R255G;ENSP00000437611:R255G	ENSP00000280562:R255G	R	-	1	0	PITPNM2	122055929	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.643000	0.61390	2.332000	0.79248	0.561000	0.74099	CGT		0.637	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		39	113	0	0	0	0	39	113				
RNF17	56163	broad.mit.edu	37	13	25451323	25451323	+	Splice_Site	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:25451323T>C	ENST00000255324.5	+	34	4824	c.4772T>C	c.(4771-4773)aTg>aCg	p.M1591T	RNF17_ENST00000339524.3_Splice_Site_p.M601T|RNF17_ENST00000381921.1_Splice_Site_p.M1549T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1591					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GCTGTGTCCATGGTAAGTGTC	0.413																																						uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(4771-4773)ATG>ACG		ring finger protein 17							83.0	74.0	77.0					13																	25451323		2203	4300	6503	SO:0001630	splice_region_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25451323T>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4773+1T>C	13.37:g.25451323T>C						RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.M1587T|RNF17_uc001ups.2_Missense_Mutation_p.M1530T|RNF17_uc010aac.2_Missense_Mutation_p.M783T|RNF17_uc010aad.2_Missense_Mutation_p.M601T	p.M1591T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	34	4813	+		Lung SC(185;0.0225)|Breast(139;0.077)	1591					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4772T>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	3.014	-0.203240	0.06180	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000339524	T;T;T	0.28069	1.63;1.63;1.63	5.67	5.67	0.87782	.	0.321275	0.26871	N	0.022063	T	0.11495	0.0280	N	0.04508	-0.205	0.80722	D	1	B;B;B;B	0.27068	0.167;0.001;0.007;0.01	B;B;B;B	0.16722	0.016;0.002;0.009;0.006	T	0.14559	-1.0468	10	0.05833	T	0.94	-5.1838	9.4166	0.38525	0.0:0.0803:0.0:0.9197	.	1587;601;1585;1591	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	T	1591;1549;601	ENSP00000255324:M1591T;ENSP00000371346:M1549T;ENSP00000344776:M601T	ENSP00000255324:M1591T	M	+	2	0	RNF17	24349323	0.905000	0.30787	1.000000	0.80357	0.559000	0.35586	1.359000	0.34113	2.161000	0.67846	0.459000	0.35465	ATG		0.413	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Missense_Mutation	15	17	0	0	0	0	15	17				
GPR12	2835	broad.mit.edu	37	13	27333487	27333487	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:27333487T>A	ENST00000381436.2	-	1	940	c.478A>T	c.(478-480)Atg>Ttg	p.M160L	GPR12_ENST00000405846.3_Missense_Mutation_p.M160L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	160					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		ATGACGAGCATGACATAGGTA	0.592																																						uc010aal.2		NA																	0					0						c.(478-480)ATG>TTG		G protein-coupled receptor 12							76.0	63.0	67.0					13																	27333487		2203	4300	6503	SO:0001583	missense	2835					integral to plasma membrane		g.chr13:27333487T>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.478A>T	13.37:g.27333487T>A	ENSP00000370844:p.Met160Leu					GPR12_uc010tdl.1_Missense_Mutation_p.M1L	p.M160L	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	700	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	160			Helical; Name=4; (Potential).		Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.478A>T	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	T	8.408	0.843429	0.16963	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.32988	1.43;1.43	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	N	0.14661	0.345	0.80722	D	1	B	0.11235	0.004	B	0.16289	0.015	T	0.06445	-1.0826	10	0.06891	T	0.86	.	15.3544	0.74415	0.0:0.0:0.0:1.0	.	160	P47775	GPR12_HUMAN	L	160	ENSP00000384932:M160L;ENSP00000370844:M160L	ENSP00000370844:M160L	M	-	1	0	GPR12	26231487	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.903000	0.87398	2.048000	0.60808	0.459000	0.35465	ATG		0.592	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			14	17	0	0	0	0	14	17				
ATP7B	540	broad.mit.edu	37	13	52549007	52549007	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:52549007C>T	ENST00000242839.4	-	2	505	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	ATP7B_ENST00000542656.1_Missense_Mutation_p.G85R|ATP7B_ENST00000448424.2_Missense_Mutation_p.G117R|ATP7B_ENST00000482841.1_5'Flank|ATP7B_ENST00000400370.3_Missense_Mutation_p.G117R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G117R|ATP7B_ENST00000344297.5_Missense_Mutation_p.G117R|ATP7B_ENST00000400366.3_Missense_Mutation_p.G117R	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	117	HMA 1. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCCATGTCCCCAATTTGATGG	0.562									Wilson disease																													uc001vfw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(349-351)GGG>AGG		ATPase, Cu++ transporting, beta polypeptide							132.0	123.0	126.0					13																	52549007		2074	4196	6270	SO:0001583	missense	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52549007C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.349G>A	13.37:g.52549007C>T	ENSP00000242839:p.Gly117Arg					ATP7B_uc010adv.2_Missense_Mutation_p.G117R|ATP7B_uc001vfx.2_Missense_Mutation_p.G117R|ATP7B_uc001vfy.2_Missense_Mutation_p.G117R|ATP7B_uc010tgt.1_Missense_Mutation_p.G117R|ATP7B_uc010tgu.1_Missense_Mutation_p.G117R|ATP7B_uc010tgv.1_Missense_Mutation_p.G117R|ATP7B_uc010tgw.1_Missense_Mutation_p.G85R	p.G117R	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	506	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	117			HMA 1.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.349G>A	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872188	0.33069	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.79	5.79	0.91817	Heavy metal-associated domain, HMA (2);Heavy metal-associated domain, copper ion-binding (1);	0.339113	0.34200	N	0.004169	D	0.82838	0.5124	N	0.04705	-0.18	0.09310	N	1	P;P;B;P;D;P;P;B	0.71674	0.551;0.605;0.017;0.93;0.998;0.883;0.928;0.048	B;P;B;P;D;P;P;B	0.65010	0.438;0.487;0.071;0.713;0.931;0.606;0.775;0.158	T	0.73023	-0.4113	10	0.19590	T	0.45	-5.8727	11.2515	0.49028	0.0:0.8013:0.1291:0.0697	.	85;117;117;117;117;117;117;117	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	R	117;117;117;117;117;117;85	ENSP00000242839:G117R;ENSP00000383217:G117R;ENSP00000342559:G117R;ENSP00000416738:G117R;ENSP00000383221:G117R;ENSP00000393343:G117R;ENSP00000443128:G85R	ENSP00000242839:G117R	G	-	1	0	ATP7B	51447008	0.005000	0.15991	0.371000	0.25978	0.769000	0.43574	2.093000	0.41710	2.750000	0.94351	0.561000	0.74099	GGG		0.562	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		32	50	0	0	0	0	32	50				
DOCK9	23348	broad.mit.edu	37	13	99449735	99449735	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:99449735A>G	ENST00000376460.1	-	54	6047	c.5967T>C	c.(5965-5967)gcT>gcC	p.A1989A	DOCK9_ENST00000339416.2_Silent_p.A1976A	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1990	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTAGTGGGCCAGCATTGACCT	0.423																																						uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(5968-5970)GCT>GCC		dedicator of cytokinesis 9 isoform a							104.0	88.0	93.0					13																	99449735		1904	4132	6036	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99449735A>G	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5967T>C	13.37:g.99449735A>G						DOCK9_uc001vnw.2_Silent_p.A1989A|DOCK9_uc001vnq.2_Silent_p.A537A|DOCK9_uc001vnr.2_Silent_p.A619A|DOCK9_uc010tin.1_Silent_p.A608A|DOCK9_uc001vns.2_Silent_p.A525A|DOCK9_uc010tio.1_Silent_p.A645A|DOCK9_uc010tip.1_Silent_p.A686A	p.A1990A	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			53	6025	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1990			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.5970T>C	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	A	1.450	-0.565200	0.03939	.	.	ENSG00000088387	ENST00000400228	.	.	.	5.04	-0.727	0.11166	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22173	-1.0224	4	.	.	.	.	4.1076	0.10043	0.5972:0.0:0.1506:0.2522	.	.	.	.	R	552	.	.	W	-	1	0	DOCK9	98247736	0.925000	0.31364	0.949000	0.38748	0.078000	0.17371	0.155000	0.16362	-0.365000	0.08076	0.459000	0.35465	TGG		0.423	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		7	8	0	0	0	0	7	8				
SPACA7	122258	broad.mit.edu	37	13	113086835	113086835	+	Splice_Site	SNP	G	G	A	rs200035329		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:113086835G>A	ENST00000283550.3	+	6	590	c.523G>A	c.(523-525)Gga>Aga	p.G175R	SPACA7_ENST00000375699.3_Splice_Site_p.G144R	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	175						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AAGATCTTCAGGTAGATTGGA	0.408																																						uc001vsd.1		NA																	0					0						c.(523-525)GGA>AGA		hypothetical protein LOC122258 precursor		G	ARG/GLY	0,4406		0,0,2203	78.0	83.0	81.0		523	3.4	0.9	13		81	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	SPACA7	NM_145248.4	125	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	175/196	113086835	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	122258					extracellular region		g.chr13:113086835G>A	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.523+1G>A	13.37:g.113086835G>A							p.G175R	NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN			6	554	+	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)		175					Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	c.523G>A	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094082	0.56075	0.0	2.33E-4	ENSG00000153498	ENST00000283550;ENST00000375699	T;T	0.64991	-0.01;-0.13	3.39	3.39	0.38822	.	.	.	.	.	T	0.64349	0.2590	N	0.24115	0.695	0.37579	D	0.919731	D	0.89917	1.0	D	0.74348	0.983	T	0.69621	-0.5096	9	0.66056	D	0.02	-12.9085	10.5979	0.45349	0.0:0.0:1.0:0.0	.	175	Q96KW9	SPAC7_HUMAN	R	175;144	ENSP00000283550:G175R;ENSP00000364851:G144R	ENSP00000283550:G175R	G	+	1	0	SPACA7	112134836	0.997000	0.39634	0.884000	0.34674	0.025000	0.11179	2.948000	0.49066	2.201000	0.70794	0.655000	0.94253	GGA		0.408	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248	Missense_Mutation	11	16	0	0	0	0	11	16				
MYH6	4624	broad.mit.edu	37	14	23855572	23855572	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:23855572C>T	ENST00000356287.3	-	32	4940	c.4911G>A	c.(4909-4911)atG>atA	p.M1637I	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.M1637I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1637					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)			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)		CCTCGGCAGCCATGCGGTTGG	0.607																																						uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(4909-4911)ATG>ATA		myosin heavy chain 6							84.0	80.0	82.0					14																	23855572		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.chr14:23855572C>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.4911G>A	14.37:g.23855572C>T	ENSP00000348634:p.Met1637Ile						p.M1637I	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4978	-	all_cancers(95;2.54e-05)		1637			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4911G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	14.80	2.644684	0.47258	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82433	-1.61;-1.61	4.5	-5.06	0.02946	Myosin tail (1);	.	.	.	.	T	0.64681	0.2620	N	0.11927	0.2	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.48019	-0.9071	9	0.40728	T	0.16	.	9.3807	0.38311	0.097:0.6691:0.0:0.2339	.	1637	P13533	MYH6_HUMAN	I	1637	ENSP00000386041:M1637I;ENSP00000348634:M1637I	ENSP00000348634:M1637I	M	-	3	0	MYH6	22925412	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	-0.381000	0.07417	-1.160000	0.02804	0.561000	0.74099	ATG		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			8	79	0	0	0	0	8	79				
NYNRIN	57523	broad.mit.edu	37	14	24884560	24884560	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:24884560C>G	ENST00000382554.3	+	9	3923	c.3605C>G	c.(3604-3606)cCc>cGc	p.P1202R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1202					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCCAGGGCCCCCAGTCAGGG	0.622																																						uc001wpf.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3604-3606)CCC>CGC		hypothetical protein LOC57523							66.0	72.0	70.0					14																	24884560		1916	4105	6021	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884560C>G	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3605C>G	14.37:g.24884560C>G	ENSP00000371994:p.Pro1202Arg						p.P1202R	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	3923	+			1202					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3605C>G	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289014	0.59976	.	.	ENSG00000205978	ENST00000382554	T	0.42513	0.97	4.6	4.6	0.57074	.	.	.	.	.	T	0.45337	0.1337	N	0.19112	0.55	0.32540	N	0.533779	D	0.69078	0.997	P	0.60789	0.879	T	0.55939	-0.8061	9	0.66056	D	0.02	.	12.7777	0.57457	0.0:1.0:0.0:0.0	.	1202	Q9P2P1	NYNRI_HUMAN	R	1202	ENSP00000371994:P1202R	ENSP00000371994:P1202R	P	+	2	0	NYNRIN	23954400	0.935000	0.31712	0.998000	0.56505	0.993000	0.82548	2.978000	0.49305	2.371000	0.80710	0.655000	0.94253	CCC		0.622	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			33	146	0	0	0	0	33	146				
FOXA1	3169	broad.mit.edu	37	14	38061468	38061468	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:38061468G>A	ENST00000250448.2	-	2	582	c.521C>T	c.(520-522)tCg>tTg	p.S174L	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.S141L	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	174					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGAGATGTACGAGTAGGGCGG	0.652																																						uc001wuf.2		NA																	0					0						c.(520-522)TCG>TTG		forkhead box A1							94.0	86.0	89.0					14																	38061468		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061468G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.521C>T	14.37:g.38061468G>A	ENSP00000250448:p.Ser174Leu					FOXA1_uc010tpz.1_Missense_Mutation_p.S141L	p.S174L	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	833	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		174			Fork-head.		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.521C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531502	0.85706	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.97598	-4.45;-4.45	3.88	3.88	0.44766	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98691	1.0696	10	0.87932	D	0	.	14.7753	0.69726	0.0:0.0:1.0:0.0	.	174	P55317	FOXA1_HUMAN	L	174;141	ENSP00000250448:S174L;ENSP00000440178:S141L	ENSP00000250448:S174L	S	-	2	0	FOXA1	37131219	1.000000	0.71417	0.999000	0.59377	0.625000	0.37756	7.714000	0.84703	1.998000	0.58463	0.505000	0.49811	TCG		0.652	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			27	166	0	0	0	0	27	166				
GEMIN2	8487	broad.mit.edu	37	14	39597527	39597527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:39597527G>A	ENST00000308317.6	+	7	691	c.608G>A	c.(607-609)gGa>gAa	p.G203E	GEMIN2_ENST00000250379.8_Missense_Mutation_p.G188E|GEMIN2_ENST00000396249.2_Missense_Mutation_p.G203E	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	203					gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											AATTGGTTTGGAGAAAGAGAC	0.343																																						uc001wuq.2		NA																	0					0						c.(607-609)GGA>GAA		SMN-interacting protein 1 isoform alpha							120.0	121.0	120.0					14																	39597527		2203	4300	6503	SO:0001583	missense	8487				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr14:39597527G>A	AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.608G>A	14.37:g.39597527G>A	ENSP00000308533:p.Gly203Glu					SIP1_uc001wur.2_Missense_Mutation_p.G203E|SIP1_uc001wus.2_Missense_Mutation_p.G188E|SIP1_uc010amx.2_RNA	p.G203E	NM_003616	NP_003607	O14893	GEMI2_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0121)	7	630	+	Hepatocellular(127;0.213)		203					B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Missense_Mutation	SNP	ENST00000308317.6	37	c.608G>A	CCDS9669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.142|4.142	0.024663|0.024663	0.08054|0.08054	.|.	.|.	ENSG00000092208|ENSG00000092208	ENST00000527381|ENST00000308317;ENST00000396249;ENST00000250379	.|.	.|.	.|.	5.77|5.77	4.87|4.87	0.63330|0.63330	.|.	.|0.096661	.|0.64402	.|N	.|0.000001	T|T	0.14570|0.14570	0.0352|0.0352	N|N	0.00890|0.00890	-1.11|-1.11	0.38876|0.38876	D|D	0.956807|0.956807	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.0;0.0;0.002	T|T	0.24012|0.24012	-1.0172|-1.0172	5|9	.|0.02654	.|T	.|1	-18.1199|-18.1199	8.9344|8.9344	0.35691|0.35691	0.1674:0.0:0.8326:0.0|0.1674:0.0:0.8326:0.0	.|.	.|188;203;203	.|O14893-2;O14893-3;O14893	.|.;.;GEMI2_HUMAN	K|E	192|203;203;188	.|.	.|ENSP00000250379:G188E	E|G	+|+	1|2	0|0	GEMIN2|GEMIN2	38667278|38667278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.218000|3.218000	0.51192|0.51192	1.575000|1.575000	0.49775|0.49775	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.343	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2			23	127	0	0	0	0	23	127				
FSCB	84075	broad.mit.edu	37	14	44975557	44975557	+	Missense_Mutation	SNP	T	T	A	rs140155770		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:44975557T>A	ENST00000340446.4	-	1	925	c.634A>T	c.(634-636)Aat>Tat	p.N212Y	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	212						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCTGATATTTTTCTGCCCA	0.403																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(634-636)AAT>TAT		fibrous sheath CABYR binding protein							124.0	126.0	125.0					14																	44975557		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975557T>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.634A>T	14.37:g.44975557T>A	ENSP00000344579:p.Asn212Tyr						p.N212Y	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	943	-			212					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.634A>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.050134	0.36181	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.20332	2.08	3.85	-1.36	0.09085	.	.	.	.	.	T	0.11367	0.0277	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.19391	0.025	T	0.30327	-0.9982	9	0.48119	T	0.1	5.4511	4.4432	0.11584	0.0:0.3074:0.1702:0.5224	.	212	Q5H9T9	FSCB_HUMAN	Y	212	ENSP00000344579:N212Y	ENSP00000344579:N212Y	N	-	1	0	FSCB	44045307	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.139000	0.16036	-0.123000	0.11745	0.459000	0.35465	AAT		0.403	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		34	100	0	0	0	0	34	100				
ERO1L	30001	broad.mit.edu	37	14	53112872	53112872	+	Splice_Site	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:53112872C>G	ENST00000395686.3	-	15	1569	c.1346G>C	c.(1345-1347)aGa>aCa	p.R449T		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	449					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TCAAACTAACCTTCCAAATGC	0.333																																						uc001wzv.2		NA																	0					0						c.(1345-1347)AGA>ACA		ERO1-like precursor							106.0	103.0	104.0					14																	53112872		2203	4300	6503	SO:0001630	splice_region_variant	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53112872C>G	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.1346+1G>C	14.37:g.53112872C>G						ERO1L_uc001wzw.2_RNA|ERO1L_uc010aof.2_Intron	p.R449T	NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN			15	1572	-	Breast(41;0.226)		449					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	c.1346G>C	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016730	0.93404	.	.	ENSG00000197930	ENST00000395686	T	0.51574	0.7	5.26	5.26	0.73747	.	0.090500	0.85682	D	0.000000	T	0.79370	0.4434	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85663	0.1290	9	.	.	.	-16.4791	19.2484	0.93912	0.0:1.0:0.0:0.0	.	449	Q96HE7	ERO1A_HUMAN	T	449	ENSP00000379042:R449T	.	R	-	2	0	ERO1L	52182622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.286000	0.78671	2.629000	0.89072	0.655000	0.94253	AGA		0.333	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584	Missense_Mutation	14	34	0	0	0	0	14	34				
SYNE2	23224	broad.mit.edu	37	14	64630217	64630217	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:64630217T>A	ENST00000344113.4	+	89	16609	c.16397T>A	c.(16396-16398)aTg>aAg	p.M5466K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1851K|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5383K|SYNE2_ENST00000357395.3_Missense_Mutation_p.M1851K|SYNE2_ENST00000555002.1_Missense_Mutation_p.M2100K|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5466K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5466					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCACCCACATGCTCCTCCCG	0.502																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(16396-16398)ATG>AAG		spectrin repeat containing, nuclear envelope 2							69.0	71.0	70.0					14																	64630217		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64630217T>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16397T>A	14.37:g.64630217T>A	ENSP00000341781:p.Met5466Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.M5466K|SYNE2_uc010apy.2_Missense_Mutation_p.M1851K|SYNE2_uc001xgn.2_Missense_Mutation_p.M428K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR	p.M5466K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	89	16627	+			5466			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.16397T>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	3.498	-0.102385	0.06967	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.55760	0.87;4.16;0.87;0.5;4.22;4.16	6.08	-5.34	0.02705	.	1.505020	0.04071	N	0.308084	T	0.27629	0.0679	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17465	0.007;0.011;0.003;0.022	B;B;B;B	0.21151	0.004;0.009;0.002;0.033	T	0.22626	-1.0211	10	0.05959	T	0.93	.	1.593	0.02658	0.2709:0.324:0.2591:0.1459	.	1851;5383;5466;5466	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	K	5466;1851;5466;5383;5389;2100;1851	ENSP00000350719:M5466K;ENSP00000349969:M1851K;ENSP00000341781:M5466K;ENSP00000452570:M5383K;ENSP00000450831:M2100K;ENSP00000378249:M1851K	ENSP00000261678:M5389K	M	+	2	0	SYNE2	63699970	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.049000	0.11924	-0.540000	0.06265	-0.250000	0.11733	ATG		0.502	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		15	51	0	0	0	0	15	51				
FUT8	2530	broad.mit.edu	37	14	66208932	66208932	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:66208932A>C	ENST00000360689.5	+	11	3259	c.1532A>C	c.(1531-1533)tAt>tCt	p.Y511S	FUT8_ENST00000557164.1_Missense_Mutation_p.Y348S|FUT8_ENST00000358307.2_Missense_Mutation_p.Y382S|FUT8_ENST00000394586.2_Missense_Mutation_p.Y511S|FUT8_ENST00000417683.1_Missense_Mutation_p.Y105S|FUT8_ENST00000394585.1_Missense_Mutation_p.Y511S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	511	SH3.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ATTGCCATTTATGCTCACCAA	0.433																																						uc001xin.2		NA																	0				ovary(1)	1						c.(1531-1533)TAT>TCT		fucosyltransferase 8 isoform a							143.0	142.0	142.0					14																	66208932		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208932A>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1532A>C	14.37:g.66208932A>C	ENSP00000353910:p.Tyr511Ser					FUT8_uc001xio.2_Missense_Mutation_p.Y511S|FUT8_uc010tsp.1_Missense_Mutation_p.Y348S|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Y511S|FUT8_uc001xiq.2_Missense_Mutation_p.Y382S|FUT8_uc001xis.2_Missense_Mutation_p.Y105S	p.Y511S	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	2729	+			511			SH3.|Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1532A>C	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318558	0.60524	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	6.04	6.04	0.98038	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	M	0.91872	3.25	0.80722	D	1	P;P;P	0.48089	0.661;0.905;0.817	B;B;B	0.40702	0.223;0.338;0.16	T	0.68040	-0.5514	10	0.27785	T	0.31	-16.6547	14.5406	0.67990	1.0:0.0:0.0:0.0	.	105;382;511	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	S	511;511;348;511;382;105	ENSP00000353910:Y511S;ENSP00000378087:Y511S;ENSP00000452433:Y348S;ENSP00000378086:Y511S;ENSP00000351057:Y382S;ENSP00000396770:Y105S	ENSP00000351057:Y382S	Y	+	2	0	FUT8	65278685	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	TAT		0.433	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		38	77	0	0	0	0	38	77				
SERPINA4	5267	broad.mit.edu	37	14	95030105	95030105	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:95030105C>A	ENST00000557004.1	+	2	707	c.286C>A	c.(286-288)Cac>Aac	p.H96N	SERPINA4_ENST00000555095.1_Missense_Mutation_p.H96N|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.H96N			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	96					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGCCTGCTCACACAGCCGCAG	0.607																																						uc001ydk.2		NA																	0				ovary(3)|skin(1)	4						c.(286-288)CAC>AAC		serine (or cysteine) proteinase inhibitor, clade							38.0	40.0	40.0					14																	95030105		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030105C>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.286C>A	14.37:g.95030105C>A	ENSP00000450838:p.His96Asn					SERPINA4_uc010avd.2_Missense_Mutation_p.H133N|SERPINA4_uc001ydl.2_Missense_Mutation_p.H96N	p.H96N	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	352	+			96					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.286C>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.405725	0.25378	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	T;T;T	0.80909	-1.43;-1.43;-1.43	4.38	-5.53	0.02552	Serpin domain (3);	1.288650	0.05507	N	0.559535	T	0.51007	0.1649	N	0.03071	-0.42	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.14023	0.01;0.001	T	0.46748	-0.9169	10	0.09843	T	0.71	.	5.6581	0.17654	0.1335:0.1394:0.5621:0.165	.	96;96	B2R815;P29622	.;KAIN_HUMAN	N	96	ENSP00000450838:H96N;ENSP00000451172:H96N;ENSP00000298841:H96N	ENSP00000298841:H96N	H	+	1	0	SERPINA4	94099858	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.056000	0.03489	-0.745000	0.04772	-0.244000	0.11960	CAC		0.607	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		15	37	1	0	9.17e-09	1.14e-08	15	37				
AQR	9716	broad.mit.edu	37	15	35224630	35224630	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:35224630C>T	ENST00000156471.5	-	11	1014	c.789G>A	c.(787-789)ctG>ctA	p.L263L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	263					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGTGGGTAGCAGGGCCTGGG	0.418																																						uc001ziv.2		NA																	0				large_intestine(1)	1						c.(787-789)CTG>CTA		aquarius							80.0	76.0	77.0					15																	35224630		1875	4112	5987	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35224630C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.789G>A	15.37:g.35224630C>T							p.L263L	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	11	970	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	263					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.789G>A	CCDS42013.1																																																																																				0.418	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		18	31	0	0	0	0	18	31				
SPRED1	161742	broad.mit.edu	37	15	38643248	38643248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:38643248C>T	ENST00000299084.4	+	7	1578	c.718C>T	c.(718-720)Caa>Taa	p.Q240*		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	240	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGTCAGCTTTCAAGATGAGGA	0.388									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	uc001zka.3		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(718-720)CAA>TAA		sprouty-related protein 1 with EVH-1 domain							47.0	42.0	44.0					15																	38643248		2200	4297	6497	SO:0001587	stop_gained	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38643248C>T	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.718C>T	15.37:g.38643248C>T	ENSP00000299084:p.Gln240*						p.Q240*	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	7	1053	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	240			KBD.		B2RPJ8|Q05D53|Q8N256	Nonsense_Mutation	SNP	ENST00000299084.4	37	c.718C>T	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	C	42	9.574065	0.99208	.	.	ENSG00000166068	ENST00000299084	.	.	.	5.83	5.83	0.93111	.	0.335703	0.36374	N	0.002624	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-12.3751	20.111	0.97911	0.0:1.0:0.0:0.0	.	.	.	.	X	240	.	ENSP00000299084:Q240X	Q	+	1	0	SPRED1	36430540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.792000	0.62467	2.747000	0.94245	0.650000	0.86243	CAA		0.388	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			3	21	0	0	0	0	3	21				
TGM5	9333	broad.mit.edu	37	15	43552359	43552359	+	Silent	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:43552359C>G	ENST00000220420.5	-	3	334	c.327G>C	c.(325-327)acG>acC	p.T109T	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	109			T -> M (in dbSNP:rs113463533). {ECO:0000269|PubMed:16380904}.		cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCACGGCCGCCGTGGGAGGAG	0.612																																						uc001zrd.1		NA																	0				central_nervous_system(1)	1						c.(325-327)ACG>ACC		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						54.0	63.0	60.0					15																	43552359		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552359C>G	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.327G>C	15.37:g.43552359C>G						TGM5_uc001zre.1_Intron	p.T109T	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	3	335	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	109		T -> M.			O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.327G>C	CCDS32212.1																																																																																				0.612	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		10	100	0	0	0	0	10	100				
FBN1	2200	broad.mit.edu	37	15	48807700	48807700	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:48807700T>A	ENST00000316623.5	-	12	1807	c.1352A>T	c.(1351-1353)gAt>gTt	p.D451V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	451	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGGCAGTAATCAGTAACGTT	0.438																																						uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(1351-1353)GAT>GTT		fibrillin 1 precursor							110.0	100.0	103.0					15																	48807700		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48807700T>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1352A>T	15.37:g.48807700T>A	ENSP00000325527:p.Asp451Val						p.D451V	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	12	1680	-		all_lung(180;0.00279)	451			EGF-like 6.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1352A>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952544	0.73787	.	.	ENSG00000166147	ENST00000316623	D	0.87103	-2.21	5.93	5.93	0.95920	Matrix fibril-associated (1);	0.044103	0.85682	D	0.000000	D	0.93618	0.7962	H	0.98936	4.375	0.80722	D	1	P	0.48911	0.917	B	0.44315	0.446	D	0.95600	0.8662	10	0.87932	D	0	.	15.5755	0.76380	0.0:0.0:0.0:1.0	.	451	P35555	FBN1_HUMAN	V	451	ENSP00000325527:D451V	ENSP00000325527:D451V	D	-	2	0	FBN1	46594992	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.459000	0.80802	2.281000	0.76405	0.533000	0.62120	GAT		0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			10	84	0	0	0	0	10	84				
SV2B	9899	broad.mit.edu	37	15	91835755	91835755	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:91835755A>G	ENST00000394232.1	+	13	2495	c.2025A>G	c.(2023-2025)ccA>ccG	p.P675P	SV2B_ENST00000545111.2_Silent_p.P524P|SV2B_ENST00000330276.4_Silent_p.P675P	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	675					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCGACTGCCAGAGACTCGAG	0.507																																						uc002bqv.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(2023-2025)CCA>CCG		synaptic vesicle protein 2B homolog							115.0	108.0	110.0					15																	91835755		2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91835755A>G	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.2025A>G	15.37:g.91835755A>G						SV2B_uc010uqv.1_Silent_p.P524P|SV2B_uc002bqu.3_RNA	p.P675P	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		12	2416	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		675			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.2025A>G	CCDS10370.1																																																																																				0.507	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		8	60	0	0	0	0	8	60				
MEFV	4210	broad.mit.edu	37	16	3293434	3293434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:3293434C>A	ENST00000219596.1	-	10	2092	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*	MEFV_ENST00000536379.1_Nonsense_Mutation_p.E474*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.E505*|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	685	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TAGCCATTCTCTGGCGACAGA	0.552																																						uc002cun.1		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(2053-2055)GAG>TAG		Mediterranean fever protein	Colchicine(DB01394)						128.0	117.0	121.0					16																	3293434		2197	4300	6497	SO:0001587	stop_gained	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293434C>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2053G>T	16.37:g.3293434C>A	ENSP00000219596:p.Glu685*						p.E685*	NM_000243	NP_000234	O15553	MEFV_HUMAN			10	2093	-			685			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Nonsense_Mutation	SNP	ENST00000219596.1	37	c.2053G>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012143	0.75046	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	.	.	.	5.03	4.06	0.47325	.	0.708276	0.12763	N	0.441146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	10.7955	0.46457	0.0:0.907:0.0:0.093	.	.	.	.	X	685;505;474	.	ENSP00000219596:E685X	E	-	1	0	MEFV	3233435	0.000000	0.05858	0.946000	0.38457	0.591000	0.36615	-0.949000	0.03893	2.496000	0.84212	0.650000	0.86243	GAG		0.552	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		50	113	1	0	1.44e-25	2.07e-25	50	113				
CPPED1	55313	broad.mit.edu	37	16	12798612	12798612	+	Missense_Mutation	SNP	C	C	T	rs199709074	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:12798612C>T	ENST00000381774.4	-	3	824	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	195	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CTGGCAGTGCCGCTGCCTCGC	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		18780	0.0		0.002	False		,,,				2504	0.0					uc002dca.3		NA																	0					0						c.(583-585)CGG>CAG		calcineurin-like phosphoesterase domain		C	,GLN/ARG	0,4268		0,0,2134	68.0	72.0	70.0		,584	-2.9	0.0	16	dbSNP_132	70	1,8509		0,1,4254	yes	intron,missense	CPPED1	NM_001099455.1,NM_018340.2	,43	0,1,6388	TT,TC,CC		0.0118,0.0,0.0078	,benign	,195/315	12798612	1,12777	2134	4255	6389	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12798612C>T	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.584G>A	16.37:g.12798612C>T	ENSP00000371193:p.Arg195Gln					CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	p.R195Q	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			3	695	-			195					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.584G>A	CCDS42120.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	3.859	-0.030201	0.07543	0.0	1.18E-4	ENSG00000103381	ENST00000381774	D	0.85411	-1.98	5.32	-2.91	0.05631	Metallophosphoesterase domain (1);	0.850116	0.10766	N	0.636608	T	0.71467	0.3343	L	0.37750	1.13	0.09310	N	1	B	0.19331	0.035	B	0.16289	0.015	T	0.54084	-0.8346	10	0.13108	T	0.6	-4.8287	5.9177	0.19063	0.1204:0.4271:0.0:0.4525	.	195	Q9BRF8	CPPED_HUMAN	Q	195	ENSP00000371193:R195Q	ENSP00000371193:R195Q	R	-	2	0	CPPED1	12706113	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.276000	0.02815	-0.534000	0.06315	0.650000	0.86243	CGG		0.602	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		26	42	0	0	0	0	26	42				
CNOT1	23019	broad.mit.edu	37	16	58608535	58608535	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:58608535C>A	ENST00000317147.5	-	16	2289	c.1957G>T	c.(1957-1959)Gcc>Tcc	p.A653S	CNOT1_ENST00000441024.2_Missense_Mutation_p.A653S|CNOT1_ENST00000569240.1_Missense_Mutation_p.A653S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	653					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCAGACAGGCCAACATTGTC	0.418																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1957-1959)GCC>TCC		CCR4-NOT transcription complex, subunit 1							117.0	105.0	109.0					16																	58608535		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58608535C>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1957G>T	16.37:g.58608535C>A	ENSP00000320949:p.Ala653Ser					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.A653S|CNOT1_uc002enx.2_Missense_Mutation_p.A653S|CNOT1_uc002enz.1_Missense_Mutation_p.A82S	p.A653S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	16	2250	-			653					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1957G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744527	0.30865	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.17370	2.28;2.28	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	N	0.04508	-0.205	0.80722	D	1	D;B;B	0.61697	0.99;0.08;0.063	D;B;B	0.73380	0.98;0.015;0.033	T	0.40961	-0.9535	9	.	.	.	.	18.7124	0.91662	0.0:1.0:0.0:0.0	.	653;653;653	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	653;82;653;653	ENSP00000320949:A653S;ENSP00000413113:A653S	.	A	-	1	0	CNOT1	57166036	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.425000	0.82216	0.462000	0.41574	GCC		0.418	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		23	64	1	0	6.36e-07	7.57e-07	23	64				
MYOCD	93649	broad.mit.edu	37	17	12618891	12618891	+	Splice_Site	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:12618891G>A	ENST00000343344.4	+	3	177	c.177G>A	c.(175-177)aaG>aaA	p.K59K	MYOCD_ENST00000425538.1_Splice_Site_p.K59K			Q8IZQ8	MYCD_HUMAN	myocardin	59					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATAGTGACAAGGTAATTTTTG	0.408																																						uc002gnn.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(175-177)AAG>AAA		myocardin isoform 2							100.0	88.0	92.0					17																	12618891		2203	4300	6503	SO:0001630	splice_region_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12618891G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.177+1G>A	17.37:g.12618891G>A						MYOCD_uc002gno.2_Silent_p.K59K	p.K59K	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	3	476	+			59					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.177G>A	CCDS11163.1																																																																																				0.408	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	Silent	12	46	0	0	0	0	12	46				
KSR1	8844	broad.mit.edu	37	17	25932786	25932786	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:25932786G>T	ENST00000319524.6	+	15	2007	c.2007G>T	c.(2005-2007)gtG>gtT	p.V669V	KSR1_ENST00000268763.6_Silent_p.V532V|KSR1_ENST00000509603.2_Silent_p.V647V|KSR1_ENST00000398988.3_Silent_p.V532V			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATGAGAACGTGGTGCTCTTCA	0.597																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.2		NA																	0				lung(3)|central_nervous_system(1)	4						c.(1594-1596)GTG>GTT		kinase suppressor of ras							19.0	21.0	20.0					17																	25932786		2036	4183	6219	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932786G>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2007G>T	17.37:g.25932786G>T						KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Silent_p.V311V	p.V532V	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	15	2041	+	Lung NSC(42;0.00836)		667			Protein kinase.		F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1596G>T		.	.	.	.	.	.	.	.	.	.	G	9.998	1.232641	0.22626	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.67	2.26	0.28386	.	.	.	.	.	T	0.45577	0.1349	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36383	-0.9750	4	.	.	.	.	3.7903	0.08718	0.1529:0.179:0.5477:0.1205	.	.	.	.	C	383	.	.	G	+	1	0	KSR1	22956913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.877000	0.39598	1.398000	0.46701	0.655000	0.94253	GGT		0.597	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		4	7	1	0	0.00024832	0.000270796	4	7				
LHX1	3975	broad.mit.edu	37	17	35297814	35297814	+	Splice_Site	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:35297814G>C	ENST00000254457.5	+	2	1808		c.e2+1		RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CTTCACTCGGGTGAGGCCCCA	0.562																																						uc002hnh.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e2+1		LIM homeobox protein 1							55.0	49.0	51.0					17																	35297814		2203	4300	6503	SO:0001630	splice_region_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297814G>C	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.397+1G>C	17.37:g.35297814G>C						LHX1_uc010cux.1_Splice_Site_p.A41_splice	p.A133_splice	NM_005568	NP_005559	P48742	LHX1_HUMAN			2	1393	+		Breast(25;0.00607)						Q3MIW0	Splice_Site	SNP	ENST00000254457.5	37	c.397_splice	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830810	0.71258	.	.	ENSG00000132130	ENST00000254457	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.295	0.90143	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LHX1	32371927	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.260000	0.78391	2.735000	0.93741	0.561000	0.74099	.		0.562	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568	Intron	5	22	0	0	0	0	5	22				
MED1	5469	broad.mit.edu	37	17	37564503	37564503	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:37564503G>T	ENST00000300651.6	-	17	4194	c.3971C>A	c.(3970-3972)cCa>cAa	p.P1324Q	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCGTCCAGTGGGTCTTCACC	0.512										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(3970-3972)CCA>CAA		mediator complex subunit 1							84.0	92.0	89.0					17																	37564503		2203	4299	6502	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564503G>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3971C>A	17.37:g.37564503G>T	ENSP00000300651:p.Pro1324Gln	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.P1152Q|MED1_uc002hru.2_Intron	p.P1324Q	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4183	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1324			Ser-rich.|Interaction with TP53.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3971C>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199574	0.38806	.	.	ENSG00000125686	ENST00000300651	T	0.33438	1.41	5.2	4.22	0.49857	.	.	.	.	.	T	0.20414	0.0491	N	0.19112	0.55	0.40869	D	0.983893	B	0.02656	0.0	B	0.04013	0.001	T	0.05068	-1.0908	9	0.18710	T	0.47	-0.142	14.8416	0.70230	0.0:0.0:0.8411:0.1589	.	1324	Q15648	MED1_HUMAN	Q	1324	ENSP00000300651:P1324Q	ENSP00000300651:P1324Q	P	-	2	0	MED1	34818029	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.054000	0.49908	1.496000	0.48567	0.655000	0.94253	CCA		0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		34	84	1	0	4.63e-21	6.57e-21	34	84				
KRT24	192666	broad.mit.edu	37	17	38856487	38856487	+	Missense_Mutation	SNP	C	C	G	rs150081982	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:38856487C>G	ENST00000264651.2	-	4	1060	c.1004G>C	c.(1003-1005)cGg>cCg	p.R335P		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	335	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTTGTTGAACCGCTCCTCAGC	0.547																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.2		NA																	0					0						c.(1003-1005)CGG>CCG		keratin 24							142.0	136.0	138.0					17																	38856487		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38856487C>G		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1004G>C	17.37:g.38856487C>G	ENSP00000264651:p.Arg335Pro						p.R335P	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			4	1061	-		Breast(137;0.00526)	335			Rod.|Coil 2.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.1004G>C	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249392	0.59103	.	.	ENSG00000167916	ENST00000264651	D	0.88818	-2.43	5.86	4.78	0.61160	Prefoldin (1);Filament (1);	.	.	.	.	D	0.86493	0.5946	L	0.55990	1.75	0.19575	N	0.999967	B	0.26512	0.151	B	0.30495	0.116	T	0.77795	-0.2454	9	0.87932	D	0	.	8.4259	0.32729	0.0:0.2981:0.0:0.7019	.	335	Q2M2I5	K1C24_HUMAN	P	335	ENSP00000264651:R335P	ENSP00000264651:R335P	R	-	2	0	KRT24	36110013	0.088000	0.21588	0.998000	0.56505	0.784000	0.44337	0.844000	0.27654	0.481000	0.27557	-0.360000	0.07572	CGG		0.547	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		37	98	0	0	0	0	37	98				
KCNH4	23415	broad.mit.edu	37	17	40330942	40330942	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:40330942A>G	ENST00000264661.3	-	2	511	c.179T>C	c.(178-180)gTc>gCc	p.V60A	KCNH4_ENST00000607371.1_Missense_Mutation_p.V60A	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	60	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTCTGCATGACCTCGGTGCG	0.637																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NA																	0				large_intestine(1)	1						c.(178-180)GTC>GCC		potassium voltage-gated channel, subfamily H,							59.0	54.0	56.0					17																	40330942		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40330942A>G	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.179T>C	17.37:g.40330942A>G	ENSP00000264661:p.Val60Ala						p.V60A	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	2	512	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	60			Cytoplasmic (Potential).|PAS.			Missense_Mutation	SNP	ENST00000264661.3	37	c.179T>C	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.689999	0.48097	.	.	ENSG00000089558	ENST00000264661	D	0.99704	-6.46	4.64	3.57	0.40892	PAS fold-3 (1);PAS (3);	0.000000	0.36854	N	0.002366	D	0.99536	0.9834	M	0.74647	2.275	0.52501	D	0.999953	D	0.71674	0.998	D	0.83275	0.996	D	0.98847	1.0757	10	0.87932	D	0	.	10.1006	0.42502	0.921:0.0:0.079:0.0	.	60	Q9UQ05	KCNH4_HUMAN	A	60	ENSP00000264661:V60A	ENSP00000264661:V60A	V	-	2	0	KCNH4	37584468	1.000000	0.71417	0.988000	0.46212	0.001000	0.01503	9.119000	0.94362	0.820000	0.34516	-0.376000	0.06991	GTC		0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		16	34	0	0	0	0	16	34				
AOC3	8639	broad.mit.edu	37	17	41003593	41003593	+	Missense_Mutation	SNP	G	G	A	rs402680	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:41003593G>A	ENST00000308423.2	+	1	393	c.233G>A	c.(232-234)cGg>cAg	p.R78Q	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	78			R -> Q (in dbSNP:rs402680).		amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTGACCCAGCGGCTGGGGCCA	0.657													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15314	0.0		0.0	False		,,,				2504	0.0				NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(232-234)CGG>CAG		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)	G	GLN/ARG	9,4397	11.4+/-27.6	0,9,2194	76.0	86.0	83.0		233	1.6	0.1	17	dbSNP_80	83	0,8600		0,0,4300	no	missense	AOC3	NM_003734.2	43	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	78/764	41003593	9,12997	2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41003593G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.233G>A	17.37:g.41003593G>A	ENSP00000312326:p.Arg78Gln						p.R78Q	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	393	+		Breast(137;0.000143)	78			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.233G>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.142245	0.00332	0.002043	0.0	ENSG00000131471	ENST00000308423	T	0.31510	1.49	5.05	1.65	0.23941	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.763999	0.12414	N	0.470985	T	0.07683	0.0193	N	0.00608	-1.33	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	10	0.02654	T	1	.	8.7811	0.34792	0.6636:0.0:0.3364:0.0	rs402680;rs7214408	78	Q16853	AOC3_HUMAN	Q	78	ENSP00000312326:R78Q	ENSP00000312326:R78Q	R	+	2	0	AOC3	38257119	0.000000	0.05858	0.081000	0.20488	0.034000	0.12701	0.791000	0.26915	0.103000	0.17682	0.591000	0.81541	CGG		0.657	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		25	118	0	0	0	0	25	118				
RNF213	57674	broad.mit.edu	37	17	78363670	78363670	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:78363670C>G	ENST00000582970.1	+	66	15381	c.15238C>G	c.(15238-15240)Cag>Gag	p.Q5080E	RNF213_ENST00000336301.6_Missense_Mutation_p.Q3153E|RNF213_ENST00000508628.2_Missense_Mutation_p.Q5129E|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5080					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCCTCTGGCAGTTCCTGTC	0.537																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(9457-9459)CAG>GAG		ring finger protein 213							112.0	105.0	107.0					17																	78363670		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78363670C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15238C>G	17.37:g.78363670C>G	ENSP00000464087:p.Gln5080Glu					uc002jyi.1_Intron|RNF213_uc010dhx.1_Missense_Mutation_p.Q97E	p.Q3153E	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		41	9680	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.9457C>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239013	0.58995	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.22336	1.96	5.38	2.28	0.28536	.	0.224065	0.38272	N	0.001745	T	0.23492	0.0568	M	0.85542	2.76	0.28345	N	0.921147	P;P	0.48911	0.835;0.917	B;B	0.39185	0.275;0.293	T	0.22765	-1.0207	10	0.26408	T	0.33	.	8.2107	0.31481	0.1321:0.748:0.0:0.1199	.	5080;3153	D6RI12;Q63HN8	.;RN213_HUMAN	E	5080;5129;3153;430	ENSP00000338218:Q3153E	ENSP00000338218:Q3153E	Q	+	1	0	RNF213	75978265	1.000000	0.71417	0.924000	0.36721	0.927000	0.56198	4.332000	0.59279	0.244000	0.21351	0.655000	0.94253	CAG		0.537	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		27	46	0	0	0	0	27	46				
PTPRM	5797	broad.mit.edu	37	18	8380391	8380391	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:8380391C>T	ENST00000332175.8	+	27	4882	c.3845C>T	c.(3844-3846)tCc>tTc	p.S1282F	PTPRM_ENST00000580170.1_Missense_Mutation_p.S1295F|PTPRM_ENST00000400053.4_Missense_Mutation_p.S1220F|PTPRM_ENST00000400060.4_Missense_Mutation_p.S1296F|PTPRM_ENST00000444013.1_Missense_Mutation_p.S1069F	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1282	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CACTGCACATCCGTAGTTATG	0.458																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3844-3846)TCC>TTC		protein tyrosine phosphatase, receptor type, M							117.0	104.0	108.0					18																	8380391		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8380391C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3845C>T	18.37:g.8380391C>T	ENSP00000331418:p.Ser1282Phe					PTPRM_uc010dkv.2_Missense_Mutation_p.S1295F|PTPRM_uc010wzl.1_Missense_Mutation_p.S1069F	p.S1282F	NM_002845	NP_002836	P28827	PTPRM_HUMAN			27	4348	+		Colorectal(10;0.234)	1282			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3845C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720108	0.89205	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.49	5.49	0.81192	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.92338	0.7569	M	0.85462	2.755	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.83275	0.99;0.996;0.996	D	0.92928	0.6361	10	0.66056	D	0.02	.	19.3775	0.94517	0.0:1.0:0.0:0.0	.	1069;1295;1282	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	F	1282;1296;1220;1069	ENSP00000331418:S1282F;ENSP00000382933:S1296F;ENSP00000382927:S1220F;ENSP00000387608:S1069F	ENSP00000331418:S1282F	S	+	2	0	PTPRM	8370391	1.000000	0.71417	0.889000	0.34880	0.833000	0.47200	6.026000	0.70873	2.588000	0.87417	0.467000	0.42956	TCC		0.458	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			14	39	0	0	0	0	14	39				
POTEC	388468	broad.mit.edu	37	18	14542858	14542858	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:14542858G>C	ENST00000358970.5	-	1	287	c.288C>G	c.(286-288)agC>agG	p.S96R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	96										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCCCATCTTGCTCCTGAGCG	0.612																																						uc010dln.2		NA																	0				skin(3)	3						c.(286-288)AGC>AGG		ANKRD26-like family B, member 2							44.0	50.0	49.0					18																	14542858		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542858G>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.288C>G	18.37:g.14542858G>C	ENSP00000351856:p.Ser96Arg					POTEC_uc010xaj.1_RNA	p.S96R	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	742	-			96						Missense_Mutation	SNP	ENST00000358970.5	37	c.288C>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	5.125	0.208673	0.09757	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.34072	1.38	0.399	-0.794	0.10918	.	.	.	.	.	T	0.26593	0.0650	L	0.48642	1.525	0.09310	N	1	P	0.35433	0.501	B	0.35550	0.205	T	0.15521	-1.0434	8	0.40728	T	0.16	.	.	.	.	.	96	B2RU33	POTEC_HUMAN	R	96	ENSP00000351856:S96R	ENSP00000351856:S96R	S	-	3	2	POTEC	14532858	0.001000	0.12720	0.009000	0.14445	0.023000	0.10783	-0.243000	0.08915	-0.436000	0.07254	0.175000	0.17021	AGC		0.612	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		9	206	0	0	0	0	9	206				
DSG2	1829	broad.mit.edu	37	18	29126100	29126100	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:29126100G>A	ENST00000261590.8	+	15	2960	c.2751G>A	c.(2749-2751)gcG>gcA	p.A917A	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	917					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTAGGCAGGCGCAAAAGGTAG	0.463																																						uc002kwu.3		NA																	0				central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(2749-2751)GCG>GCA		desmoglein 2 preproprotein							83.0	81.0	82.0					18																	29126100		1940	4131	6071	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126100G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2751G>A	18.37:g.29126100G>A						uc002kwv.3_Intron	p.A917A	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2939	+			917			Desmoglein repeat 2.|Cytoplasmic (Potential).		Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.2751G>A	CCDS42423.1																																																																																				0.463	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		4	92	0	0	0	0	4	92				
CCDC178	374864	broad.mit.edu	37	18	30554564	30554564	+	Missense_Mutation	SNP	C	C	A	rs200388828		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:30554564C>A	ENST00000383096.3	-	22	2652	c.2470G>T	c.(2470-2472)Gcc>Tcc	p.A824S	CCDC178_ENST00000403303.1_Missense_Mutation_p.A824S|CCDC178_ENST00000579916.1_Missense_Mutation_p.A144S|CCDC178_ENST00000300227.8_Missense_Mutation_p.A786S|CCDC178_ENST00000402325.1_Missense_Mutation_p.A774S|CCDC178_ENST00000406524.2_Missense_Mutation_p.A848S|CCDC178_ENST00000581852.1_Missense_Mutation_p.A29S|CCDC178_ENST00000579947.1_Missense_Mutation_p.A824S|CCDC178_ENST00000583930.1_Missense_Mutation_p.A848S			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	824																	TGGAAGTTGGCCAGCCTCATC	0.493																																						uc002kxn.2		NA																	0				ovary(1)	1						c.(2470-2472)GCC>TCC		hypothetical protein LOC374864 isoform 1							69.0	64.0	65.0					18																	30554564		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30554564C>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2470G>T	18.37:g.30554564C>A	ENSP00000372576:p.Ala824Ser					C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.A288S|C18orf34_uc010xbr.1_Missense_Mutation_p.A848S|C18orf34_uc010dmf.1_Missense_Mutation_p.A144S|C18orf34_uc002kxo.2_Missense_Mutation_p.A786S|C18orf34_uc002kxp.2_Missense_Mutation_p.A824S	p.A824S	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			21	2612	-			824					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.2470G>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330652	0.41297	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.20738	2.2;2.2;2.24;2.05;2.13	5.65	5.65	0.86999	.	.	.	.	.	T	0.40815	0.1132	L	0.43152	1.355	0.47276	D	0.999377	D;D;D;D;D;D	0.89917	0.994;0.997;1.0;0.994;0.994;0.994	D;D;D;D;D;D	0.72338	0.938;0.922;0.977;0.938;0.938;0.938	T	0.02581	-1.1138	9	0.38643	T	0.18	-1.1258	19.7111	0.96096	0.0:1.0:0.0:0.0	.	848;824;774;824;786;824	F8W7A7;A1L4G8;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;.;CR034_HUMAN	S	824;824;786;848;774	ENSP00000385591:A824S;ENSP00000372576:A824S;ENSP00000300227:A786S;ENSP00000385867:A848S;ENSP00000385234:A774S	ENSP00000300227:A786S	A	-	1	0	C18orf34	28808562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.291000	0.78721	2.666000	0.90696	0.563000	0.77884	GCC		0.493	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		14	41	1	0	0.00316338	0.00335184	14	41				
NARS	4677	broad.mit.edu	37	18	55274528	55274528	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:55274528C>T	ENST00000256854.5	-	9	1294	c.839G>A	c.(838-840)gGt>gAt	p.G280D	NARS_ENST00000423481.2_Missense_Mutation_p.G31D	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	280					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TGTGGCACCACCTTCTACTTG	0.438																																						uc002lgs.2		NA																	0					0						c.(838-840)GGT>GAT		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)						106.0	99.0	101.0					18																	55274528		2203	4300	6503	SO:0001583	missense	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55274528C>T	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.839G>A	18.37:g.55274528C>T	ENSP00000256854:p.Gly280Asp					NARS_uc002lgt.2_Missense_Mutation_p.G279D|NARS_uc010xea.1_Missense_Mutation_p.G31D|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_3'UTR|NARS_uc010xed.1_3'UTR	p.G280D	NM_004539	NP_004530	O43776	SYNC_HUMAN			9	1067	-		Colorectal(73;0.227)	280					B4DG16|Q53GU6	Missense_Mutation	SNP	ENST00000256854.5	37	c.839G>A	CCDS32837.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366623	0.61513	.	.	ENSG00000134440	ENST00000256854;ENST00000423481	D;D	0.83335	-1.71;-1.71	5.91	5.91	0.95273	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.92427	0.7596	M	0.87097	2.86	0.80722	D	1	D;D	0.63046	0.979;0.992	P;D	0.68765	0.64;0.96	D	0.92425	0.5949	10	0.59425	D	0.04	.	19.9003	0.96983	0.0:1.0:0.0:0.0	.	31;280	B4DN60;O43776	.;SYNC_HUMAN	D	280;31	ENSP00000256854:G280D;ENSP00000407919:G31D	ENSP00000256854:G280D	G	-	2	0	NARS	53425526	1.000000	0.71417	0.972000	0.41901	0.107000	0.19398	5.622000	0.67750	2.808000	0.96608	0.655000	0.94253	GGT		0.438	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539		28	58	0	0	0	0	28	58				
ZNF532	55205	broad.mit.edu	37	18	56651435	56651435	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:56651435C>G	ENST00000336078.4	+	11	4419	c.3643C>G	c.(3643-3645)Cac>Gac	p.H1215D	ZNF532_ENST00000589288.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591230.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591083.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591808.1_Missense_Mutation_p.H1215D	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTACACGTCTCACGTCTCTCT	0.527																																						uc002lho.2		NA																	0				breast(1)|skin(1)	2						c.(3643-3645)CAC>GAC		zinc finger protein 532							56.0	49.0	51.0					18																	56651435		2202	4300	6502	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56651435C>G	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3643C>G	18.37:g.56651435C>G	ENSP00000338217:p.His1215Asp					ZNF532_uc002lhp.2_Missense_Mutation_p.H1213D|ZNF532_uc010xeg.1_Missense_Mutation_p.H1213D|ZNF532_uc002lhr.2_Missense_Mutation_p.H1213D|ZNF532_uc002lhs.2_Missense_Mutation_p.H1213D|ZNF532_uc010xeh.1_Missense_Mutation_p.H303D	p.H1215D	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			11	4190	+			1215			C2H2-type 11.		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.3643C>G	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003310	0.54254	.	.	ENSG00000074657	ENST00000336078	T	0.28069	1.63	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.159232	0.56097	D	0.000022	T	0.48114	0.1482	M	0.63169	1.94	0.52099	D	0.999945	P;D	0.67145	0.704;0.996	B;P	0.58970	0.169;0.849	T	0.21348	-1.0248	10	0.11794	T	0.64	-24.7123	19.7382	0.96215	0.0:1.0:0.0:0.0	.	1215;1215	B3KXW2;Q9HCE3	.;ZN532_HUMAN	D	1215	ENSP00000338217:H1215D	ENSP00000338217:H1215D	H	+	1	0	ZNF532	54802415	1.000000	0.71417	0.998000	0.56505	0.605000	0.37080	4.834000	0.62774	2.769000	0.95229	0.561000	0.74099	CAC		0.527	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		7	58	0	0	0	0	7	58				
CDH7	1005	broad.mit.edu	37	18	63511088	63511088	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:63511088T>C	ENST00000397968.2	+	7	1448	c.1022T>C	c.(1021-1023)aTa>aCa	p.I341T	CDH7_ENST00000536984.2_Missense_Mutation_p.I341T|CDH7_ENST00000323011.3_Missense_Mutation_p.I341T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	341	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACGCTACGGATAGAAGCTGCA	0.443																																						uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1021-1023)ATA>ACA		cadherin 7, type 2 preproprotein							115.0	108.0	110.0					18																	63511088		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63511088T>C	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1022T>C	18.37:g.63511088T>C	ENSP00000381058:p.Ile341Thr					CDH7_uc002lka.2_Missense_Mutation_p.I341T|CDH7_uc002lkb.2_Missense_Mutation_p.I341T	p.I341T	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			7	1347	+		Esophageal squamous(42;0.129)	341			Extracellular (Potential).|Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1022T>C	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651996	0.88056	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.48201	0.82;0.82;0.82	5.04	5.04	0.67666	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.86953	2.85	0.80722	D	1	B;D	0.54964	0.367;0.969	B;P	0.55749	0.157;0.783	T	0.75337	-0.3353	10	0.87932	D	0	.	15.2232	0.73330	0.0:0.0:0.0:1.0	.	341;341	F5H5X9;Q9ULB5	.;CADH7_HUMAN	T	341	ENSP00000319166:I341T;ENSP00000443030:I341T;ENSP00000381058:I341T	ENSP00000319166:I341T	I	+	2	0	CDH7	61662068	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.479000	0.81095	2.233000	0.73108	0.533000	0.62120	ATA		0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		24	49	0	0	0	0	24	49				
CDH19	28513	broad.mit.edu	37	18	64235938	64235938	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:64235938C>G	ENST00000540086.1	-	3	451	c.205G>C	c.(205-207)Gat>Cat	p.D69H	CDH19_ENST00000262150.2_Missense_Mutation_p.D69H	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	169	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGTCTAAATCAGATCTTAGC	0.333																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(205-207)GAT>CAT		cadherin 19, type 2 preproprotein							51.0	52.0	52.0					18																	64235938		2203	4298	6501	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235938C>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.205G>C	18.37:g.64235938C>G	ENSP00000439593:p.Asp69His					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.D69H|CDH19_uc002lkd.2_Missense_Mutation_p.D69H	p.D69H	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			3	343	-		Esophageal squamous(42;0.0132)	69			Cadherin 1.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.205G>C	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479032	0.26511	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.74632	-0.86;-0.86	5.87	3.78	0.43462	Cadherin (4);Cadherin-like (1);	0.100228	0.64402	D	0.000003	D	0.90208	0.6939	H	0.97491	4.015	0.48395	D	0.999644	D;D	0.89917	1.0;0.986	D;P	0.75484	0.986;0.887	D	0.92983	0.6408	10	0.87932	D	0	.	12.8682	0.57951	0.0:0.8454:0.0:0.1546	.	69;69	F5H1K0;Q9H159	.;CAD19_HUMAN	H	69;69;14	ENSP00000262150:D69H;ENSP00000439593:D69H	ENSP00000262150:D69H	D	-	1	0	CDH19	62386918	0.998000	0.40836	0.997000	0.53966	0.861000	0.49209	2.381000	0.44336	1.493000	0.48517	0.591000	0.81541	GAT		0.333	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		13	45	0	0	0	0	13	45				
CD226	10666	broad.mit.edu	37	18	67531612	67531612	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:67531612T>A	ENST00000280200.4	-	7	1217	c.949A>T	c.(949-951)Aca>Tca	p.T317S	CD226_ENST00000581982.1_Missense_Mutation_p.T162S|CD226_ENST00000582621.1_Missense_Mutation_p.T317S|CD226_ENST00000577287.1_Missense_Mutation_p.T162S	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	317					cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TCCTCTCTTGTATCATCCATG	0.388																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2		NA																	0					0						c.(949-951)ACA>TCA		CD226 molecule precursor							269.0	230.0	243.0					18																	67531612		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67531612T>A	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.949A>T	18.37:g.67531612T>A	ENSP00000280200:p.Thr317Ser					CD226_uc002lkm.3_Missense_Mutation_p.T317S	p.T317S	NM_006566	NP_006557	Q15762	CD226_HUMAN			6	1396	-		Esophageal squamous(42;0.129)	317			Cytoplasmic (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.949A>T	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	T	6.949	0.545010	0.13312	.	.	ENSG00000150637	ENST00000280200	T	0.22743	1.94	5.15	-0.779	0.10973	.	0.806631	0.11084	N	0.601526	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.19946	0.027	T	0.36286	-0.9754	10	0.29301	T	0.29	.	9.2927	0.37797	0.0:0.5824:0.0:0.4176	.	317	Q15762	CD226_HUMAN	S	317	ENSP00000280200:T317S	ENSP00000280200:T317S	T	-	1	0	CD226	65682592	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-1.251000	0.02882	-0.050000	0.13356	-2.103000	0.00360	ACA		0.388	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		33	61	0	0	0	0	33	61				
CBLN2	147381	broad.mit.edu	37	18	70209049	70209049	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:70209049T>A	ENST00000269503.4	-	3	1120	c.347A>T	c.(346-348)tAt>tTt	p.Y116F	CBLN2_ENST00000585159.1_Missense_Mutation_p.Y116F|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	116	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CTGGTCGAAATAGATGGTCAT	0.706																																						uc002lku.2		NA																	0					0						c.(346-348)TAT>TTT		cerebellin 2 precursor							36.0	29.0	31.0					18																	70209049		2203	4300	6503	SO:0001583	missense	147381					integral to membrane		g.chr18:70209049T>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.347A>T	18.37:g.70209049T>A	ENSP00000269503:p.Tyr116Phe					CBLN2_uc002lkv.2_Missense_Mutation_p.Y116F	p.Y116F	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			2	582	-		Esophageal squamous(42;0.131)	116			C1q.		Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.347A>T	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.028399	0.93518	.	.	ENSG00000141668	ENST00000269503	T	0.37235	1.21	4.54	4.54	0.55810	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.62144	-0.6916	10	0.66056	D	0.02	-14.133	14.1792	0.65562	0.0:0.0:0.0:1.0	.	116	Q8IUK8	CBLN2_HUMAN	F	116	ENSP00000269503:Y116F	ENSP00000269503:Y116F	Y	-	2	0	CBLN2	68360029	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.529000	0.81952	1.812000	0.52913	0.379000	0.24179	TAT		0.706	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		10	11	0	0	0	0	10	11				
THEG	51298	broad.mit.edu	37	19	371226	371226	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:371226G>C	ENST00000342640.4	-	6	774	c.732C>G	c.(730-732)ttC>ttG	p.F244L	THEG_ENST00000346878.2_Missense_Mutation_p.F220L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	244					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)		GCATGCTCCAGAAGTTATCAC	0.642																																						uc002lol.2		NA																	0				ovary(1)	1						c.(730-732)TTC>TTG		Theg homolog isoform 1							101.0	99.0	100.0					19																	371226		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:371226G>C	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.732C>G	19.37:g.371226G>C	ENSP00000340088:p.Phe244Leu					THEG_uc002lom.2_Missense_Mutation_p.F220L	p.F244L	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	771	-		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)	244					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.732C>G	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	G	2.895	-0.228864	0.06022	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.27256	1.68;1.68	4.11	-4.73	0.03259	.	0.180809	0.38217	N	0.001779	T	0.08403	0.0209	N	0.03608	-0.345	0.19300	N	0.999976	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.31558	-0.9939	10	0.10377	T	0.69	-11.9891	13.535	0.61643	0.1939:0.0:0.8061:0.0	.	220;244	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	L	244;220	ENSP00000340088:F244L;ENSP00000264820:F220L	ENSP00000340088:F244L	F	-	3	2	THEG	322226	0.838000	0.29461	0.549000	0.28204	0.017000	0.09413	-0.900000	0.04097	-0.901000	0.03891	-0.302000	0.09304	TTC		0.642	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			52	189	0	0	0	0	52	189				
CATSPERD	257062	broad.mit.edu	37	19	5778610	5778610	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:5778610G>T	ENST00000381624.3	+	22	2381	c.2320G>T	c.(2320-2322)Gcc>Tcc	p.A774S	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	774					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CCAGTTCAGGGCCTCAGCCAC	0.652																																						uc002mda.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2320-2322)GCC>TCC		transmembrane protein 146 precursor							52.0	59.0	57.0					19																	5778610		2134	4238	6372	SO:0001583	missense	257062					integral to membrane		g.chr19:5778610G>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2320G>T	19.37:g.5778610G>T	ENSP00000371037:p.Ala774Ser						p.A774S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			22	2381	+			774			Cytoplasmic (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.2320G>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	5.108	0.205583	0.09704	.	.	ENSG00000174898	ENST00000381624;ENST00000381613	T	0.24723	1.84	0.78	-1.56	0.08532	.	.	.	.	.	T	0.15392	0.0371	L	0.40543	1.245	0.09310	N	1	B	0.30068	0.267	B	0.24394	0.053	T	0.17410	-1.0370	9	0.49607	T	0.09	.	2.3365	0.04249	0.2779:0.3283:0.3938:0.0	.	774	Q86XM0	TM146_HUMAN	S	774;443	ENSP00000371037:A774S	ENSP00000371026:A443S	A	+	1	0	TMEM146	5729610	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.147000	0.10234	-0.857000	0.04115	-0.266000	0.10368	GCC		0.652	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		86	68	1	0	7.69e-47	1.13e-46	86	68				
ACER1	125981	broad.mit.edu	37	19	6306747	6306747	+	Missense_Mutation	SNP	C	C	T	rs144461069		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:6306747C>T	ENST00000301452.4	-	6	850	c.773G>A	c.(772-774)cGg>cAg	p.R258Q		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	258					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GTCATCACCCCGGATTTCCAC	0.577																																						uc002mel.2		NA																	0					0						c.(772-774)CGG>CAG		alkaline ceramidase 1		C	GLN/ARG	0,4406		0,0,2203	81.0	62.0	68.0		773	-4.8	0.0	19	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACER1	NM_133492.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	258/265	6306747	1,13005	2203	4300	6503	SO:0001583	missense	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6306747C>T	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.773G>A	19.37:g.6306747C>T	ENSP00000301452:p.Arg258Gln						p.R258Q	NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN			6	851	-			258			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000301452.4	37	c.773G>A	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.167980	0.21621	0.0	1.16E-4	ENSG00000167769	ENST00000301452	T	0.43294	0.95	5.51	-4.77	0.03219	.	0.763259	0.12310	N	0.480264	T	0.15782	0.0380	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25502	-1.0130	10	0.13470	T	0.59	-0.5862	0.6008	0.00744	0.209:0.3016:0.2084:0.281	.	258	Q8TDN7	ACER1_HUMAN	Q	258	ENSP00000301452:R258Q	ENSP00000301452:R258Q	R	-	2	0	ACER1	6257747	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.064000	0.14437	-0.362000	0.08113	-1.099000	0.02127	CGG		0.577	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		14	61	0	0	0	0	14	61				
C3	718	broad.mit.edu	37	19	6693060	6693060	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:6693060C>G	ENST00000245907.6	-	26	3357	c.3265G>C	c.(3265-3267)Gct>Cct	p.A1089P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1089					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGGTTGACAGCCAGAGAGAAG	0.587																																						uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(3265-3267)GCT>CCT		complement component 3 precursor							102.0	100.0	101.0					19																	6693060		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6693060C>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3265G>C	19.37:g.6693060C>G	ENSP00000245907:p.Ala1089Pro					C3_uc002mfl.2_5'UTR	p.A1089P	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	26	3327	-			1089					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3265G>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798454	0.90538	.	.	ENSG00000125730	ENST00000245907	T	0.47528	0.84	5.88	4.85	0.62838	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.095656	0.64402	D	0.000001	T	0.79776	0.4504	H	0.98507	4.25	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.86381	0.1729	10	0.87932	D	0	.	13.3857	0.60795	0.0:0.9236:0.0:0.0764	.	1089	P01024	CO3_HUMAN	P	1089	ENSP00000245907:A1089P	ENSP00000245907:A1089P	A	-	1	0	C3	6644060	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	2.869000	0.48444	2.782000	0.95742	0.655000	0.94253	GCT		0.587	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		28	177	0	0	0	0	28	177				
CCL25	6370	broad.mit.edu	37	19	8122770	8122770	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:8122770G>C	ENST00000390669.3	+	4	461	c.411G>C	c.(409-411)aaG>aaC	p.K137N	CCL25_ENST00000253451.4_Missense_Mutation_p.K136N			O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	137					cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|hormone activity (GO:0005179)			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						gcagcagtaagaggaatgtct	0.478																																						uc002mjd.2		NA																	0					0						c.(409-411)AAG>AAC		small inducible cytokine A25 precursor							154.0	146.0	149.0					19																	8122770		2019	4178	6197	SO:0001583	missense	6370				chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity	g.chr19:8122770G>C	U86358	CCDS12194.1, CCDS56080.1	19p13.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000131142	ENSG00000131142		"""Chemokine ligands"", ""Endogenous ligands"""	10624	protein-coding gene	gene with protein product	"""Ck beta-15"", ""thymus expressed chemokine"", ""TECKvar"""	602565	"""small inducible cytokine subfamily A (Cys-Cys), member 25"""	SCYA25		9285413, 9722960	Standard	NM_005624		Approved	TECK, Ckb15	uc002mjd.3	O15444	OTTHUMG00000141287	ENST00000390669.3:c.411G>C	19.37:g.8122770G>C	ENSP00000375086:p.Lys137Asn					CCL25_uc002mjc.3_Missense_Mutation_p.K136N|CCL25_uc010dvy.1_3'UTR	p.K137N	NM_005624	NP_005615	O15444	CCL25_HUMAN			4	411	+			137					A1L4J4|A6NI52|A8K9E7|B5MCA5|Q96KJ7	Missense_Mutation	SNP	ENST00000390669.3	37	c.411G>C	CCDS12194.1	.	.	.	.	.	.	.	.	.	.	G	5.670	0.308289	0.10733	.	.	ENSG00000131142	ENST00000253451;ENST00000390669	T;T	0.18174	2.34;2.23	1.17	-1.45	0.08828	.	.	.	.	.	T	0.10252	0.0251	L	0.34521	1.04	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.06405	0.002;0.002	T	0.32428	-0.9907	9	0.42905	T	0.14	.	2.5196	0.04676	0.2371:0.3201:0.4428:0.0	.	137;136	O15444;A6NI52	CCL25_HUMAN;.	N	136;137	ENSP00000253451:K136N;ENSP00000375086:K137N	ENSP00000253451:K136N	K	+	3	2	CCL25	8028770	0.005000	0.15991	0.004000	0.12327	0.053000	0.15095	-0.412000	0.07132	-0.369000	0.08028	0.305000	0.20034	AAG		0.478	CCL25-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280522.1	NM_005624		45	57	0	0	0	0	45	57				
TRMT1	55621	broad.mit.edu	37	19	13221060	13221060	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:13221060C>A	ENST00000592062.1	-	9	1501	c.931G>T	c.(931-933)Gtg>Ttg	p.V311L	TRMT1_ENST00000221504.8_Missense_Mutation_p.V311L|TRMT1_ENST00000437766.1_Missense_Mutation_p.V311L|TRMT1_ENST00000357720.4_Missense_Mutation_p.V311L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	311	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGCAGCGGCACCACGAAGCGC	0.652																																						uc002mwj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(931-933)GTG>TTG		tRNA methyltransferase 1 isoform 1							47.0	45.0	46.0					19																	13221060		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13221060C>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.931G>T	19.37:g.13221060C>A	ENSP00000466967:p.Val311Leu					TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.V311L|TRMT1_uc002mwl.3_Missense_Mutation_p.V311L|TRMT1_uc010xmz.1_Missense_Mutation_p.V97L	p.V311L	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	7	1181	-			311					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.931G>T	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345420	0.61073	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.77	3.74	0.42951	.	0.233549	0.36167	N	0.002750	T	0.51449	0.1675	L	0.54323	1.7	0.38403	D	0.945724	P;B	0.35600	0.511;0.364	B;B	0.37480	0.251;0.188	T	0.53655	-0.8408	9	0.33940	T	0.23	-14.1716	10.5033	0.44819	0.0:0.9055:0.0:0.0945	.	311;311	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	L	311	.	ENSP00000221504:V311L	V	-	1	0	TRMT1	13082060	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	3.657000	0.54474	1.246000	0.43901	0.462000	0.41574	GTG		0.652	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		21	20	1	0	1.5e-11	1.98e-11	21	20				
SLC5A5	6528	broad.mit.edu	37	19	17986870	17986870	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:17986870A>T	ENST00000222248.3	+	5	1000	c.653A>T	c.(652-654)cAg>cTg	p.Q218L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	218					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGGCCCCGCCAGGTGCTCACG	0.607																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(652-654)CAG>CTG		solute carrier family 5 (sodium iodide							232.0	179.0	197.0					19																	17986870		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17986870A>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.653A>T	19.37:g.17986870A>T	ENSP00000222248:p.Gln218Leu						p.Q218L	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			5	1000	+			218			Extracellular (Potential).		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.653A>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.335168	0.24253	.	.	ENSG00000105641	ENST00000222248	D	0.87650	-2.28	5.0	-4.45	0.03546	.	1.511920	0.03845	N	0.271263	T	0.73125	0.3547	N	0.17345	0.48	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.57046	-0.7878	10	0.31617	T	0.26	.	3.2287	0.06741	0.3523:0.123:0.4044:0.1203	.	218	Q92911	SC5A5_HUMAN	L	218	ENSP00000222248:Q218L	ENSP00000222248:Q218L	Q	+	2	0	SLC5A5	17847870	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.708000	0.01891	-0.968000	0.03578	0.402000	0.26972	CAG		0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			25	106	0	0	0	0	25	106				
ZNF626	199777	broad.mit.edu	37	19	20808036	20808036	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:20808036A>T	ENST00000601440.1	-	4	793	c.647T>A	c.(646-648)cTt>cAt	p.L216H	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ATGTCTAGTAAGGCTACAAGA	0.388																																						uc002npb.1		NA																	0				skin(1)	1						c.(646-648)CTT>CAT		zinc finger protein 626 isoform 1							50.0	52.0	51.0					19																	20808036		2137	4272	6409	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808036A>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.647T>A	19.37:g.20808036A>T	ENSP00000469958:p.Leu216His					ZNF626_uc002npc.1_Missense_Mutation_p.L140H	p.L216H	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	797	-			216			C2H2-type 2.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.647T>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	7.918	0.738006	0.15574	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78253	0.4254	M	0.90870	3.155	0.54753	D	0.999986	D	0.89917	1.0	D	0.81914	0.995	T	0.74677	-0.3585	8	0.62326	D	0.03	.	5.4037	0.16310	1.0:0.0:0.0:0.0	.	216	Q68DY1	ZN626_HUMAN	H	216;140;216	.	ENSP00000445201:L216H	L	-	2	0	ZNF626	20599876	0.856000	0.29760	0.142000	0.22268	0.142000	0.21351	6.092000	0.71414	0.141000	0.18875	0.139000	0.15985	CTT		0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		31	35	0	0	0	0	31	35				
ZNF536	9745	broad.mit.edu	37	19	30934689	30934689	+	Missense_Mutation	SNP	G	G	T	rs201542417		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:30934689G>T	ENST00000355537.3	+	2	367	c.220G>T	c.(220-222)Ggc>Tgc	p.G74C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	74					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCATGAGCGGCCAGCCCAT	0.682																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(220-222)GGC>TGC		zinc finger protein 536							28.0	32.0	30.0					19																	30934689		2203	4299	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934689G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.220G>T	19.37:g.30934689G>T	ENSP00000347730:p.Gly74Cys					ZNF536_uc010edd.1_Missense_Mutation_p.G74C	p.G74C	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	358	+	Esophageal squamous(110;0.0834)		74					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.220G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	6.346	0.431944	0.12045	.	.	ENSG00000198597	ENST00000355537	T	0.08720	3.06	5.67	2.35	0.29111	.	0.202835	0.51477	D	0.000082	T	0.10594	0.0259	N	0.19112	0.55	0.28327	N	0.921965	D;D	0.71674	0.975;0.998	P;P	0.62740	0.466;0.906	T	0.07966	-1.0745	10	0.87932	D	0	-16.4097	4.3682	0.11235	0.3582:0.1603:0.4815:0.0	.	74;74	A7E228;O15090	.;ZN536_HUMAN	C	74	ENSP00000347730:G74C	ENSP00000347730:G74C	G	+	1	0	ZNF536	35626529	1.000000	0.71417	0.834000	0.33040	0.941000	0.58515	3.888000	0.56204	0.325000	0.23359	0.462000	0.41574	GGC		0.682	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		30	47	1	0	9.65e-13	1.29e-12	30	47				
ANKRD27	84079	broad.mit.edu	37	19	33110271	33110271	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:33110271G>A	ENST00000306065.4	-	20	2060	c.1902C>T	c.(1900-1902)tcC>tcT	p.S634S		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	634					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGCGCTGCGGGGACTGCACAG	0.602																																						uc002ntn.1		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1900-1902)TCC>TCT		ankyrin repeat domain 27 (VPS9 domain)							65.0	65.0	65.0					19																	33110271		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33110271G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1902C>T	19.37:g.33110271G>A							p.S634S	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			20	2058	-	Esophageal squamous(110;0.137)		634					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.1902C>T	CCDS32986.1																																																																																				0.602	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		20	52	0	0	0	0	20	52				
RHPN2	85415	broad.mit.edu	37	19	33517463	33517463	+	Silent	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:33517463G>C	ENST00000254260.3	-	3	296	c.261C>G	c.(259-261)ctC>ctG	p.L87L	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	87					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCTCTTCCTTGAGCATCTGCA	0.547																																						uc002nuf.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(259-261)CTC>CTG		rhophilin, Rho GTPase binding protein 2							116.0	109.0	111.0					19																	33517463		2203	4300	6503	SO:0001819	synonymous_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33517463G>C	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.261C>G	19.37:g.33517463G>C						RHPN2_uc010xro.1_5'UTR|RHPN2_uc002nue.2_5'UTR	p.L87L	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN			3	327	-	Esophageal squamous(110;0.137)		87			REM.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	c.261C>G	CCDS12427.1																																																																																				0.547	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		4	262	0	0	0	0	4	262				
ARHGAP33	115703	broad.mit.edu	37	19	36278998	36278998	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:36278998G>T	ENST00000007510.4	+	21	3675	c.3531G>T	c.(3529-3531)agG>agT	p.R1177S	AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R1013S|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R1016S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1177					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TAGGGCCCAGGGGTCCCTCAC	0.672																																						uc002obs.1		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(3046-3048)AGG>AGT		sorting nexin 26							32.0	35.0	34.0					19																	36278998		2199	4292	6491	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278998G>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3531G>T	19.37:g.36278998G>T	ENSP00000007510:p.Arg1177Ser					ARHGAP33_uc002obt.1_Missense_Mutation_p.R1013S|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.R765S	p.R1016S	NM_052948	NP_443180	O14559	RHG33_HUMAN			21	3133	+			1177					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.3048G>T		.	.	.	.	.	.	.	.	.	.	g	7.234	0.599871	0.13939	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.12039	3.16;2.72;3.09	4.68	-0.445	0.12242	.	0.151022	0.31936	N	0.006834	T	0.05593	0.0147	N	0.14661	0.345	0.37419	D	0.91354	P;P	0.36535	0.557;0.557	B;B	0.34242	0.178;0.169	T	0.47195	-0.9136	10	0.17369	T	0.5	.	6.6752	0.23090	0.3069:0.0:0.5741:0.119	.	1013;1016	O14559-10;O14559-11	.;.	S	1177;1016;1013	ENSP00000007510:R1177S;ENSP00000320038:R1016S;ENSP00000368227:R1013S	ENSP00000007510:R1177S	R	+	3	2	ARHGAP33	40970838	1.000000	0.71417	0.993000	0.49108	0.248000	0.25809	0.711000	0.25764	-0.054000	0.13266	-1.512000	0.00943	AGG		0.672	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		42	47	1	0	6.24e-21	8.82e-21	42	47				
ZNF383	163087	broad.mit.edu	37	19	37733492	37733492	+	Silent	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:37733492A>T	ENST00000589413.1	+	8	937	c.354A>T	c.(352-354)ggA>ggT	p.G118G	ZNF383_ENST00000352998.3_Silent_p.G118G|ZNF383_ENST00000590503.1_Silent_p.G118G			Q8NA42	ZN383_HUMAN	zinc finger protein 383	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGTTTTGGAGATGTTTTGG	0.373																																						uc002oft.1		NA																	0				ovary(1)|skin(1)	2						c.(352-354)GGA>GGT		zinc finger protein 383							114.0	125.0	121.0					19																	37733492		2199	4299	6498	SO:0001819	synonymous_variant	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37733492A>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.354A>T	19.37:g.37733492A>T						ZNF383_uc002ofs.1_Silent_p.G53G|ZNF383_uc002ofu.1_Silent_p.G118G	p.G118G	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	934	+			118					Q6X2C7	Silent	SNP	ENST00000589413.1	37	c.354A>T	CCDS12501.1																																																																																				0.373	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		37	57	0	0	0	0	37	57				
ZNF235	9310	broad.mit.edu	37	19	44791701	44791701	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:44791701A>G	ENST00000291182.4	-	5	1989	c.1887T>C	c.(1885-1887)tgT>tgC	p.C629C	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	629					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CACAAGTGTCACATTTATATG	0.443																																						uc002oza.3		NA																	0				ovary(2)|large_intestine(1)	3						c.(1885-1887)TGT>TGC		zinc finger protein 93 homolog							135.0	125.0	128.0					19																	44791701		2203	4300	6503	SO:0001819	synonymous_variant	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44791701A>G	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1887T>C	19.37:g.44791701A>G						ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.C625C|ZNF235_uc010xwx.1_Silent_p.C543C	p.C629C	NM_004234	NP_004225	Q14590	ZN235_HUMAN			5	1990	-		Prostate(69;0.0352)|all_neural(266;0.116)	629			C2H2-type 13.		B4DTQ7|O14898|O14899|Q17RR8	Silent	SNP	ENST00000291182.4	37	c.1887T>C	CCDS33048.1																																																																																				0.443	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			55	58	0	0	0	0	55	58				
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	G	A	rs577507616		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:54327405G>A	ENST00000324134.6	-	1	192	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	8	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.D8E(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612																																						uc002qch.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(22-24)GAC>GAT		NLR family, pyrin domain containing 12 isoform							43.0	42.0	42.0					19																	54327405		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327405G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.24C>T	19.37:g.54327405G>A						NLRP12_uc002qci.3_Silent_p.D8D|NLRP12_uc002qcj.3_Silent_p.D8D|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.D8D	p.D8D	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	244	-	Ovarian(34;0.19)		8			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.24C>T	CCDS12864.1																																																																																				0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		15	61	0	0	0	0	15	61				
CACNG6	59285	broad.mit.edu	37	19	54515283	54515283	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:54515283C>A	ENST00000252729.2	+	4	1213	c.623C>A	c.(622-624)cCc>cAc	p.P208H	CACNG6_ENST00000352529.1_Missense_Mutation_p.P137H|CACNG6_ENST00000346968.2_Missense_Mutation_p.P162H	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	208					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCGGAGCCTCCCCCGGCCCCA	0.697																																						uc002qct.2		NA																	0				ovary(2)	2						c.(622-624)CCC>CAC		voltage-dependent calcium channel gamma-6							29.0	33.0	31.0					19																	54515283		2203	4300	6503	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54515283C>A	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.623C>A	19.37:g.54515283C>A	ENSP00000252729:p.Pro208His					CACNG6_uc002qcu.2_Missense_Mutation_p.P162H|CACNG6_uc002qcv.2_Missense_Mutation_p.P137H	p.P208H	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	4	1213	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		208						Missense_Mutation	SNP	ENST00000252729.2	37	c.623C>A	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942912	0.53079	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.69306	-0.39;1.55;1.55	3.76	2.69	0.31865	.	0.000000	0.37955	N	0.001861	T	0.66973	0.2844	N	0.22421	0.69	0.09310	N	1	D;D;D	0.89917	1.0;0.963;0.97	D;P;P	0.78314	0.991;0.73;0.754	T	0.56360	-0.7992	10	0.56958	D	0.05	-7.9277	9.2286	0.37423	0.0:0.7786:0.2214:0.0	.	137;162;208	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	H	208;137;162	ENSP00000252729:P208H;ENSP00000319135:P137H;ENSP00000319097:P162H	ENSP00000252729:P208H	P	+	2	0	CACNG6	59207095	0.000000	0.05858	0.007000	0.13788	0.885000	0.51271	0.332000	0.19751	1.145000	0.42336	0.558000	0.71614	CCC		0.697	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			37	46	1	0	1.63e-23	2.33e-23	37	46				
ZNF667	63934	broad.mit.edu	37	19	56953604	56953604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:56953604G>A	ENST00000504904.3	-	7	1479	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	ZNF667_ENST00000342634.3_Nonsense_Mutation_p.Q382*|ZNF667_ENST00000292069.6_Nonsense_Mutation_p.Q254*|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTCTGCACTGGCAGACATTC	0.358																																						uc002qnd.2		NA																	0				pancreas(1)	1						c.(760-762)CAG>TAG		zinc finger protein 667							101.0	104.0	103.0					19																	56953604		2203	4300	6503	SO:0001587	stop_gained	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953604G>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.760C>T	19.37:g.56953604G>A	ENSP00000439402:p.Gln254*					ZNF667_uc010etl.2_Nonsense_Mutation_p.Q36*|ZNF667_uc002qne.2_Nonsense_Mutation_p.Q254*|ZNF667_uc010etm.2_Nonsense_Mutation_p.Q197*	p.Q254*	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	922	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	254			C2H2-type 4.		B2RMS6|B9EK36|Q6B093|Q9H807	Nonsense_Mutation	SNP	ENST00000504904.3	37	c.760C>T	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305269	0.40795	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	.	.	.	4.87	1.41	0.22369	.	0.000000	0.41938	D	0.000784	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-9.0658	8.7362	0.34530	0.0:0.1415:0.5694:0.2891	.	.	.	.	X	382;254;254;36	.	ENSP00000292069:Q254X	Q	-	1	0	ZNF667	61645416	0.000000	0.05858	0.992000	0.48379	0.006000	0.05464	-0.705000	0.05052	1.242000	0.43836	-0.293000	0.09583	CAG		0.358	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		23	118	0	0	0	0	23	118				
USP29	57663	broad.mit.edu	37	19	57641701	57641701	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:57641701G>T	ENST00000254181.4	+	4	2112	c.1658G>T	c.(1657-1659)aGt>aTt	p.S553I	USP29_ENST00000598197.1_Missense_Mutation_p.S553I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	553	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S553I(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTTGAGCAGTAGTGCACCT	0.423																																						uc002qny.2		NA																	1	Substitution - Missense(1)	p.S553I(1)	pancreas(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1657-1659)AGT>ATT		ubiquitin specific peptidase 29							131.0	141.0	137.0					19																	57641701		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641701G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1658G>T	19.37:g.57641701G>T	ENSP00000254181:p.Ser553Ile						p.S553I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2014	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	553						Missense_Mutation	SNP	ENST00000254181.4	37	c.1658G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.820064	0.32145	.	.	ENSG00000131864	ENST00000254181	T	0.74947	-0.89	2.52	0.327	0.15913	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.024750	0.07850	U	0.964549	T	0.75072	0.3800	L	0.40543	1.245	0.09310	N	1	D	0.67145	0.996	P	0.60609	0.877	T	0.61441	-0.7062	10	0.36615	T	0.2	-4.1805	5.9996	0.19513	0.3023:0.0:0.6977:0.0	.	553	Q9HBJ7	UBP29_HUMAN	I	553	ENSP00000254181:S553I	ENSP00000254181:S553I	S	+	2	0	USP29	62333513	0.132000	0.22450	0.000000	0.03702	0.017000	0.09413	0.791000	0.26915	0.119000	0.18210	0.467000	0.42956	AGT		0.423	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			39	175	1	0	8.16e-20	1.15e-19	39	175				
TPO	7173	broad.mit.edu	37	2	1440052	1440052	+	Silent	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:1440052C>A	ENST00000345913.4	+	5	469	c.378C>A	c.(376-378)atC>atA	p.I126I	TPO_ENST00000349624.3_Silent_p.I126I|TPO_ENST00000382269.3_Silent_p.I126I|TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Silent_p.I126I|TPO_ENST00000337415.3_Silent_p.I126I|TPO_ENST00000346956.3_Silent_p.I126I|TPO_ENST00000382198.1_Silent_p.I126I|TPO_ENST00000329066.4_Silent_p.I126I|TPO_ENST00000382201.3_Silent_p.I126I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	126					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCTGAGCATCATTGCAAACA	0.433																																						uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(376-378)ATC>ATA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						148.0	140.0	143.0					2																	1440052		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1440052C>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.378C>A	2.37:g.1440052C>A						TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.I126I|TPO_uc002qwu.2_Silent_p.I126I|TPO_uc002qwr.2_Silent_p.I126I|TPO_uc002qwx.2_Silent_p.I126I|TPO_uc010yio.1_Silent_p.I126I|TPO_uc010yip.1_Silent_p.I126I	p.I126I	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	5	469	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	126			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.378C>A	CCDS1643.1																																																																																				0.433	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		29	60	1	0	1.16e-09	1.48e-09	29	60				
DDX1	1653	broad.mit.edu	37	2	15758345	15758345	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:15758345G>A	ENST00000381341.2	+	17	1546	c.1157G>A	c.(1156-1158)aGg>aAg	p.R386K	DDX1_ENST00000233084.3_Missense_Mutation_p.R386K			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	386	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTTATAAATAGGATGCACAAT	0.299																																						uc002rce.2		NA																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1156-1158)AGG>AAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							131.0	151.0	144.0					2																	15758345		2203	4300	6503	SO:0001583	missense	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15758345G>A	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1157G>A	2.37:g.15758345G>A	ENSP00000370745:p.Arg386Lys					DDX1_uc010yjq.1_Missense_Mutation_p.R294K	p.R386K	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	16	1445	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	386			Necessary for interaction with RELA.|Helicase ATP-binding.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.1157G>A	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253040	0.59212	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.05025	3.51;3.51	6.17	6.17	0.99709	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05181	0.0138	N	0.12887	0.27	0.80722	D	1	B	0.31790	0.34	B	0.31390	0.129	T	0.51028	-0.8757	10	0.10636	T	0.68	-22.5137	20.8794	0.99867	0.0:0.0:1.0:0.0	.	386	Q92499	DDX1_HUMAN	K	386;386;370	ENSP00000370745:R386K;ENSP00000233084:R386K	ENSP00000233084:R386K	R	+	2	0	DDX1	15675796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.600000	0.82769	2.941000	0.99782	0.655000	0.94253	AGG		0.299	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		38	116	0	0	0	0	38	116				
FAM179A	165186	broad.mit.edu	37	2	29255814	29255814	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:29255814A>G	ENST00000379558.4	+	15	2378	c.2027A>G	c.(2026-2028)aAg>aGg	p.K676R	FAM179A_ENST00000403861.2_Missense_Mutation_p.K621R|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	676										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TATGGCCGGAAGATGGTGAAT	0.403																																						uc010ezl.2		NA																	0				ovary(3)|skin(1)	4						c.(2026-2028)AAG>AGG		hypothetical protein LOC165186							84.0	76.0	78.0					2																	29255814		1917	4126	6043	SO:0001583	missense	165186						binding	g.chr2:29255814A>G	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2027A>G	2.37:g.29255814A>G	ENSP00000368876:p.Lys676Arg					FAM179A_uc010ymm.1_Missense_Mutation_p.K621R|FAM179A_uc002rmr.3_Missense_Mutation_p.K203R|FAM179A_uc002rms.1_5'Flank	p.K676R	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			15	2378	+			676					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2027A>G	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	A	17.22	3.335182	0.60853	.	.	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861	T;T;T	0.21361	2.01;2.01;2.01	5.12	3.94	0.45596	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.56097	D	0.000033	T	0.30634	0.0771	L	0.39898	1.24	0.31981	N	0.605829	P;D	0.57899	0.946;0.981	P;D	0.66602	0.781;0.945	T	0.19095	-1.0316	10	0.40728	T	0.16	.	8.3429	0.32254	0.8438:0.0:0.1562:0.0	.	621;676	F8W8E4;Q6ZUX3	.;F179A_HUMAN	R	111;676;621	ENSP00000384897:K111R;ENSP00000368876:K676R;ENSP00000384699:K621R	ENSP00000368876:K676R	K	+	2	0	FAM179A	29109318	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.155000	0.50700	1.947000	0.56498	0.528000	0.53228	AAG		0.403	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	14	0	0	0	0	4	14				
BIRC6	57448	broad.mit.edu	37	2	32613839	32613839	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:32613839C>T	ENST00000421745.2	+	4	801	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	223					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACATTTCATCTTCCTCATCA	0.368																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(667-669)CTT>TTT		baculoviral IAP repeat-containing 6							171.0	145.0	154.0					2																	32613839		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32613839C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.667C>T	2.37:g.32613839C>T	ENSP00000393596:p.Leu223Phe						p.L223F	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			4	801	+	Acute lymphoblastic leukemia(172;0.155)		223					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.667C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021086	0.75275	.	.	ENSG00000115760	ENST00000421745	T	0.78246	-1.16	5.58	5.58	0.84498	.	0.075216	0.53938	D	0.000046	D	0.85596	0.5733	L	0.47190	1.495	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.86427	0.1758	10	0.87932	D	0	.	19.5677	0.95401	0.0:1.0:0.0:0.0	.	223	Q9NR09	BIRC6_HUMAN	F	223	ENSP00000393596:L223F	ENSP00000393596:L223F	L	+	1	0	BIRC6	32467343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.617000	0.88574	0.655000	0.94253	CTT		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		14	41	0	0	0	0	14	41				
BIRC6	57448	broad.mit.edu	37	2	32726872	32726872	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:32726872A>G	ENST00000421745.2	+	47	9258	c.9124A>G	c.(9124-9126)Acc>Gcc	p.T3042A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3042					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CATACTGACAACCCTTAGTAA	0.403																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(9124-9126)ACC>GCC		baculoviral IAP repeat-containing 6							143.0	134.0	137.0					2																	32726872		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32726872A>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9124A>G	2.37:g.32726872A>G	ENSP00000393596:p.Thr3042Ala						p.T3042A	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			47	9258	+	Acute lymphoblastic leukemia(172;0.155)		3042					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.9124A>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	16.72	3.200327	0.58126	.	.	ENSG00000115760	ENST00000421745	T	0.75704	-0.96	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	L	0.42245	1.32	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.75377	-0.3339	10	0.16420	T	0.52	.	15.713	0.77646	1.0:0.0:0.0:0.0	.	3042	Q9NR09	BIRC6_HUMAN	A	3042	ENSP00000393596:T3042A	ENSP00000393596:T3042A	T	+	1	0	BIRC6	32580376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.114000	0.64651	0.460000	0.39030	ACC		0.403	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		23	56	0	0	0	0	23	56				
FOXN2	3344	broad.mit.edu	37	2	48600434	48600434	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:48600434C>A	ENST00000340553.3	+	6	968	c.707C>A	c.(706-708)tCt>tAt	p.S236Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	236					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TTTTCAGAATCTGATATTGAT	0.289																																						uc002rwh.1		NA																	0					0						c.(706-708)TCT>TAT		T-cell leukemia virus enhancer factor							67.0	75.0	72.0					2																	48600434		2202	4289	6491	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48600434C>A		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.707C>A	2.37:g.48600434C>A	ENSP00000343633:p.Ser236Tyr						p.S236Y	NM_002158	NP_002149	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		6	1022	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	236					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.707C>A	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174289	0.78452	.	.	ENSG00000170802	ENST00000413569;ENST00000304367;ENST00000340553	D;D	0.95518	-3.73;-3.5	5.08	5.08	0.68730	.	0.179817	0.50627	D	0.000103	D	0.96772	0.8946	L	0.48642	1.525	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.97324	0.9946	10	0.66056	D	0.02	.	18.8282	0.92127	0.0:1.0:0.0:0.0	.	236	P32314	FOXN2_HUMAN	Y	236;145;236	ENSP00000388486:S236Y;ENSP00000343633:S236Y	ENSP00000305685:S145Y	S	+	2	0	FOXN2	48453938	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.764000	0.62264	2.508000	0.84585	0.460000	0.39030	TCT		0.289	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		24	55	1	0	5.62e-17	7.79e-17	24	55				
PNPT1	87178	broad.mit.edu	37	2	55894127	55894127	+	Splice_Site	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:55894127T>A	ENST00000447944.2	-	13	1261	c.1175A>T	c.(1174-1176)cAg>cTg	p.Q392L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	392					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.Q392L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATAAATTACCTGTGTTTGTCC	0.318																																						uc002rzf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1174-1176)CAG>CTG		polyribonucleotide nucleotidyltransferase 1							75.0	74.0	74.0					2																	55894127		2203	4300	6503	SO:0001630	splice_region_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55894127T>A	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1176+1A>T	2.37:g.55894127T>A						PNPT1_uc002rzg.2_RNA	p.Q392L	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		13	1228	-			392					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1175A>T	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691989	0.88735	.	.	ENSG00000138035	ENST00000447944	T	0.64085	-0.08	5.56	5.56	0.83823	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	H	0.97874	4.095	0.80722	D	1	D	0.60160	0.987	D	0.63381	0.914	D	0.91300	0.5066	10	0.87932	D	0	-10.3681	16.0612	0.80839	0.0:0.0:0.0:1.0	.	392	Q8TCS8	PNPT1_HUMAN	L	392	ENSP00000400646:Q392L	ENSP00000386075:Q392L	Q	-	2	0	PNPT1	55747631	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.768000	0.85345	2.250000	0.74265	0.477000	0.44152	CAG		0.318	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	Missense_Mutation	11	24	0	0	0	0	11	24				
HK2	3099	broad.mit.edu	37	2	75107439	75107439	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:75107439G>T	ENST00000290573.2	+	10	1913	c.1313G>T	c.(1312-1314)tGc>tTc	p.C438F	HK2_ENST00000409174.1_Missense_Mutation_p.C410F	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	438	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGCCCGGCTGCGATGTCCGC	0.627																																						uc002snd.2		NA																	0				ovary(1)|lung(1)	2						c.(1312-1314)TGC>TTC		hexokinase 2							130.0	147.0	141.0					2																	75107439		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75107439G>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1313G>T	2.37:g.75107439G>T	ENSP00000290573:p.Cys438Phe						p.C438F	NM_000189	NP_000180	P52789	HXK2_HUMAN			10	3239	+			438			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.1313G>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376237	0.61735	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96459	-4.02;-4.02	4.89	4.89	0.63831	Hexokinase, C-terminal (1);	0.040034	0.85682	D	0.000000	D	0.98277	0.9429	M	0.90145	3.09	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.98385	1.0560	10	0.51188	T	0.08	-12.9243	15.9407	0.79750	0.0:0.0:1.0:0.0	.	438	P52789	HXK2_HUMAN	F	438;438;410	ENSP00000290573:C438F;ENSP00000387140:C410F	ENSP00000290573:C438F	C	+	2	0	HK2	74960947	1.000000	0.71417	0.852000	0.33557	0.584000	0.36387	4.315000	0.59172	2.704000	0.92352	0.563000	0.77884	TGC		0.627	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		77	242	1	0	1.05e-32	1.53e-32	77	242				
GLI2	2736	broad.mit.edu	37	2	121728127	121728127	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:121728127A>G	ENST00000452319.1	+	7	1064	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	GLI2_ENST00000361492.4_Missense_Mutation_p.N335S|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.N7S					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACCTCCATCAATGCCACGCCC	0.637																																						uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(1003-1005)AAT>AGT		GLI-Kruppel family member GLI2							105.0	87.0	93.0					2																	121728127		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121728127A>G		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1004A>G	2.37:g.121728127A>G	ENSP00000390436:p.Asn335Ser					GLI2_uc002tmq.1_Missense_Mutation_p.N7S|GLI2_uc002tmr.1_Missense_Mutation_p.N7S|GLI2_uc002tmt.3_Missense_Mutation_p.N7S|GLI2_uc002tmu.3_Missense_Mutation_p.N7S|GLI2_uc002tmv.1_Silent_p.Q205Q|GLI2_uc010flo.1_Missense_Mutation_p.N210S|GLI2_uc002tmw.1_Missense_Mutation_p.N335S	p.N335S	NM_005270	NP_005261	P10070	GLI2_HUMAN			6	1034	+	Renal(3;0.0496)	Prostate(154;0.0623)	335						Missense_Mutation	SNP	ENST00000452319.1	37	c.1004A>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	0.232	-1.020542	0.02061	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.13420	2.6;2.6;2.59	4.55	-5.42	0.02640	.	0.306398	0.31772	N	0.007086	T	0.08313	0.0207	L	0.35414	1.06	0.09310	N	0.999999	B;B;B;B;B	0.15141	0.003;0.0;0.012;0.0;0.001	B;B;B;B;B	0.16289	0.005;0.001;0.015;0.008;0.007	T	0.21143	-1.0254	10	0.25106	T	0.35	.	12.4896	0.55893	0.6732:0.0:0.3268:0.0	.	335;335;7;7;7	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	S	335;335;7	ENSP00000390436:N335S;ENSP00000354586:N335S;ENSP00000312694:N7S	ENSP00000312694:N7S	N	+	2	0	GLI2	121444597	0.628000	0.27138	0.002000	0.10522	0.609000	0.37215	1.247000	0.32815	-1.192000	0.02691	-0.366000	0.07423	AAT		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		19	70	0	0	0	0	19	70				
THSD7B	80731	broad.mit.edu	37	2	137852677	137852677	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:137852677G>A	ENST00000409968.1	+	4	1363	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	THSD7B_ENST00000413152.2_Silent_p.L364L|THSD7B_ENST00000543459.1_Silent_p.L254L|THSD7B_ENST00000272643.3_Silent_p.L395L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	395						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)		GAGAACTTCTGCAGCAATGTC	0.453																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1090-1092)CTG>CTA		thrombospondin, type I, domain containing 7B							78.0	86.0	84.0					2																	137852677		1963	4166	6129	SO:0001819	synonymous_variant	80731							g.chr2:137852677G>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.1185G>A	2.37:g.137852677G>A						THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Silent_p.L254L	p.L364L	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	3	1092	+									Silent	SNP	ENST00000409968.1	37	c.1092G>A																																																																																					0.453	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		26	16	0	0	0	0	26	16				
RIF1	55183	broad.mit.edu	37	2	152321320	152321320	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:152321320A>G	ENST00000243326.5	+	29	5769	c.5286A>G	c.(5284-5286)acA>acG	p.T1762T	RIF1_ENST00000428287.2_Silent_p.T1762T|RIF1_ENST00000444746.2_Silent_p.T1762T|RIF1_ENST00000453091.2_Silent_p.T1762T|RIF1_ENST00000430328.2_Silent_p.T1762T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTAGTGAAACAAAAAAGGCAG	0.368																																						uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(5284-5286)ACA>ACG		RAP1 interacting factor 1							61.0	63.0	62.0					2																	152321320		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152321320A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5286A>G	2.37:g.152321320A>G						RIF1_uc002txl.2_Silent_p.T1762T|RIF1_uc002txn.2_Silent_p.T1762T|RIF1_uc002txo.2_Silent_p.T1762T|RIF1_uc002txp.2_RNA	p.T1762T	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	5416	+			1762					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.5286A>G	CCDS2194.1																																																																																				0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			20	57	0	0	0	0	20	57				
SCN7A	6332	broad.mit.edu	37	2	167322306	167322306	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:167322306G>C	ENST00000409855.1	-	7	982	c.856C>G	c.(856-858)Cca>Gca	p.P286A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	286					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATATAATATGGGTTTCCAGTT	0.393																																						uc002udu.1		NA																	0				large_intestine(1)	1						c.(856-858)CCA>GCA		sodium channel, voltage-gated, type VII, alpha							109.0	105.0	106.0					2																	167322306		1831	4088	5919	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167322306G>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.856C>G	2.37:g.167322306G>C	ENSP00000386796:p.Pro286Ala					SCN7A_uc010fpm.1_RNA	p.P286A	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			7	983	-			286						Missense_Mutation	SNP	ENST00000409855.1	37	c.856C>G	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333370	0.01298	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98075	-4.07;-4.15;-4.7	4.95	4.95	0.65309	Ion transport (1);	0.336393	0.21906	N	0.067366	D	0.93612	0.7960	L	0.28504	0.86	0.09310	N	1	B	0.33777	0.425	B	0.31946	0.138	D	0.85045	0.0925	10	0.12103	T	0.63	.	12.3684	0.55242	0.0:0.0:0.8314:0.1686	.	286	Q01118	SCN7A_HUMAN	A	286	ENSP00000386796:P286A;ENSP00000413699:P286A;ENSP00000403846:P286A	ENSP00000259060:P286A	P	-	1	0	SCN7A	167030552	0.027000	0.19231	0.437000	0.26809	0.042000	0.13812	2.089000	0.41672	2.728000	0.93425	0.585000	0.79938	CCA		0.393	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			64	37	0	0	0	0	64	37				
TTN	7273	broad.mit.edu	37	2	179478783	179478783	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179478783C>T	ENST00000591111.1	-	212	44642	c.44418G>A	c.(44416-44418)caG>caA	p.Q14806Q	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.Q7507Q|TTN_ENST00000589042.1_Silent_p.Q16447Q|TTN_ENST00000342175.6_Silent_p.Q7574Q|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000460472.2_Silent_p.Q7382Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.Q13879Q|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14806	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ACTTACCAAACTGATATTTGG	0.343																																						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.(41635-41637)CAG>CAA		titin isoform N2-A							101.0	93.0	95.0					2																	179478783		1851	4103	5954	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478783C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44418G>A	2.37:g.179478783C>T						uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.Q7574Q|TTN_uc010zfi.1_Silent_p.Q7507Q|TTN_uc010zfj.1_Silent_p.Q7382Q	p.Q13879Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		211	41861	-			14806					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.41637G>A																																																																																					0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	9	0	0	0	0	23	9				
TTN	7273	broad.mit.edu	37	2	179482708	179482708	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179482708G>T	ENST00000591111.1	-	203	42671	c.42447C>A	c.(42445-42447)atC>atA	p.I14149I	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.I6850I|TTN_ENST00000589042.1_Silent_p.I15790I|TTN_ENST00000342175.6_Silent_p.I6917I|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000460472.2_Silent_p.I6725I|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.I13222I|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14149	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CGTAGTTTGTGATCTCAGCAC	0.458																																						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.(39664-39666)ATC>ATA		titin isoform N2-A							120.0	118.0	119.0					2																	179482708		1990	4160	6150	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482708G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42447C>A	2.37:g.179482708G>T						TTN_uc010zfh.1_Silent_p.I6917I|TTN_uc010zfi.1_Silent_p.I6850I|TTN_uc010zfj.1_Silent_p.I6725I	p.I13222I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		202	39890	-			14149					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.39666C>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	74	1	0	2.8e-10	3.62e-10	24	74				
TTN	7273	broad.mit.edu	37	2	179483562	179483562	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179483562G>T	ENST00000591111.1	-	201	42016	c.41792C>A	c.(41791-41793)aCa>aAa	p.T13931K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T6632K|TTN_ENST00000589042.1_Missense_Mutation_p.T15572K|TTN_ENST00000342175.6_Missense_Mutation_p.T6699K|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000460472.2_Missense_Mutation_p.T6507K|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T13004K|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13931	Ig-like 95.				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)			TTGGTCAGCTGTCTTGATTTT	0.403																																						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.(39010-39012)ACA>AAA		titin isoform N2-A							84.0	83.0	83.0					2																	179483562		1951	4142	6093	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483562G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41792C>A	2.37:g.179483562G>T	ENSP00000465570:p.Thr13931Lys					TTN_uc010zfh.1_Missense_Mutation_p.T6699K|TTN_uc010zfi.1_Missense_Mutation_p.T6632K|TTN_uc010zfj.1_Missense_Mutation_p.T6507K	p.T13004K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		200	39235	-			13931					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.39011C>A		.	.	.	.	.	.	.	.	.	.	G	17.06	3.293574	0.60086	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.48	5.48	0.80851	Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77916	0.4202	L	0.55481	1.735	0.58432	D	0.999994	D;D;D;D	0.63880	0.993;0.993;0.993;0.993	P;P;P;P	0.61070	0.883;0.883;0.883;0.883	T	0.79210	-0.1897	9	0.87932	D	0	.	19.7237	0.96153	0.0:0.0:1.0:0.0	.	6507;6632;6699;13931	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	13004;6507;6699;6632;6507	ENSP00000343764:T13004K;ENSP00000434586:T6507K;ENSP00000340554:T6699K;ENSP00000352154:T6632K	ENSP00000340554:T6699K	T	-	2	0	TTN	179191807	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	9.358000	0.97109	2.729000	0.93468	0.650000	0.86243	ACA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	11	1	0	1.26e-06	1.49e-06	26	11				
TTN	7273	broad.mit.edu	37	2	179494132	179494132	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179494132T>A	ENST00000591111.1	-	190	39621	c.39397A>T	c.(39397-39399)Acc>Tcc	p.T13133S	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T5834S|TTN_ENST00000589042.1_Missense_Mutation_p.T14774S|TTN_ENST00000342175.6_Missense_Mutation_p.T5901S|TTN_ENST00000460472.2_Missense_Mutation_p.T5709S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T12206S|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13133	Ig-like 87.				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)			GCAGTCACGGTGACATCCTTT	0.463																																						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.(36616-36618)ACC>TCC		titin isoform N2-A							111.0	111.0	111.0					2																	179494132		1971	4174	6145	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179494132T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39397A>T	2.37:g.179494132T>A	ENSP00000465570:p.Thr13133Ser					TTN_uc010zfh.1_Missense_Mutation_p.T5901S|TTN_uc010zfi.1_Missense_Mutation_p.T5834S|TTN_uc010zfj.1_Missense_Mutation_p.T5709S	p.T12206S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		189	36840	-			13133					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.36616A>T		.	.	.	.	.	.	.	.	.	.	T	17.83	3.484333	0.63962	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.95	5.95	0.96441	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78585	0.4306	L	0.52364	1.645	0.54753	D	0.999989	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.80306	-0.1438	9	0.87932	D	0	.	16.4101	0.83708	0.0:0.0:0.0:1.0	.	5709;5834;5901;13133	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	12206;5709;5901;5834;5709	ENSP00000343764:T12206S;ENSP00000434586:T5709S;ENSP00000340554:T5901S;ENSP00000352154:T5834S	ENSP00000340554:T5901S	T	-	1	0	TTN	179202377	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.230000	0.72301	2.280000	0.76307	0.460000	0.39030	ACC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	24	0	0	0	0	46	24				
SSFA2	6744	broad.mit.edu	37	2	182784173	182784173	+	Splice_Site	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:182784173G>T	ENST00000431877.2	+	14	3323	c.3144G>T	c.(3142-3144)atG>atT	p.M1048I	SSFA2_ENST00000428267.2_Splice_Site_p.M895I|SSFA2_ENST00000320370.7_Splice_Site_p.M1048I|SSFA2_ENST00000409001.1_Splice_Site_p.M1048I|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409136.1_Splice_Site_p.M557I	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1048						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCGCACTCATGGTACGCTACC	0.507																																						uc002uoi.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3142-3144)ATG>ATT		sperm specific antigen 2 isoform 1							94.0	97.0	96.0					2																	182784173		2203	4300	6503	SO:0001630	splice_region_variant	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182784173G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.3144+1G>T	2.37:g.182784173G>T						SSFA2_uc002uoh.2_Missense_Mutation_p.M1048I|SSFA2_uc002uoj.2_Missense_Mutation_p.M1048I|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.M895I|SSFA2_uc002uol.2_Missense_Mutation_p.M895I|SSFA2_uc002uom.2_Missense_Mutation_p.M516I	p.M1048I	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		14	3466	+			1048					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.3144G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	8.652	0.898569	0.17686	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136;ENST00000457421	T;T;T;T;T	0.13901	2.78;2.55;2.77;2.79;2.56	5.84	4.94	0.65067	.	0.841152	0.10658	N	0.649092	T	0.13329	0.0323	L	0.52364	1.645	0.80722	D	1	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.002	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.002	T	0.06127	-1.0844	10	0.11485	T	0.65	2.1284	9.6371	0.39817	0.0776:0.0:0.7694:0.153	.	895;557;1048;1048;1048	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	I	1048;1048;1048;895;557;52	ENSP00000388731:M1048I;ENSP00000314669:M1048I;ENSP00000387319:M1048I;ENSP00000409867:M895I;ENSP00000386916:M557I	ENSP00000314669:M1048I	M	+	3	0	SSFA2	182492418	0.999000	0.42202	0.866000	0.34008	0.110000	0.19582	2.191000	0.42640	1.400000	0.46741	0.655000	0.94253	ATG		0.507	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751	Missense_Mutation	56	114	1	0	1.13e-32	1.65e-32	56	114				
COL3A1	1281	broad.mit.edu	37	2	189864214	189864214	+	Missense_Mutation	SNP	G	G	T	rs587779437		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:189864214G>T	ENST00000304636.3	+	31	2310	c.2140G>T	c.(2140-2142)Ggg>Tgg	p.G714W	COL3A1_ENST00000317840.5_Missense_Mutation_p.G714W	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	714	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TGGTCCTCCTGGGCCACCTGG	0.473																																						uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2140-2142)GGG>TGG		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						95.0	103.0	100.0					2																	189864214		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189864214G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2140G>T	2.37:g.189864214G>T	ENSP00000304408:p.Gly714Trp						p.G714W	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		31	2257	+			714			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2140G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829027	0.71258	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.97328	-4.25;-4.34	5.35	5.35	0.76521	.	0.000000	0.47852	D	0.000211	D	0.99242	0.9736	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98648	1.0678	10	0.87932	D	0	.	19.4391	0.94811	0.0:0.0:1.0:0.0	.	714	P02461	CO3A1_HUMAN	W	714	ENSP00000304408:G714W;ENSP00000315243:G714W	ENSP00000304408:G714W	G	+	1	0	COL3A1	189572459	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.660000	0.90430	0.557000	0.71058	GGG		0.473	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		98	49	1	0	8.79e-49	1.29e-48	98	49				
MAP2	4133	broad.mit.edu	37	2	210574637	210574637	+	Splice_Site	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:210574637G>T	ENST00000360351.4	+	12	5238		c.e12-1		MAP2_ENST00000447185.1_Splice_Site|MAP2_ENST00000361559.4_Splice_Site|MAP2_ENST00000199940.6_Splice_Site|MAP2_ENST00000475600.1_Splice_Site|MAP2_ENST00000392194.1_Splice_Site	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2						axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGTTAATACAGGGTCAGAGCC	0.458																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.e12-1		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						88.0	77.0	81.0					2																	210574637		2203	4300	6503	SO:0001630	splice_region_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574637G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4733-1G>T	2.37:g.210574637G>T						MAP2_uc002vdd.1_Splice_Site_p.R279_splice|MAP2_uc002vdf.1_Splice_Site_p.R222_splice|MAP2_uc002vdg.1_Splice_Site_p.R222_splice|MAP2_uc002vdh.1_Splice_Site_p.R279_splice|MAP2_uc002vdi.1_Splice_Site_p.R1574_splice	p.R1578_splice	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	4981	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)						Q17S04|Q8IUX2|Q99975|Q99976	Splice_Site	SNP	ENST00000360351.4	37	c.4733_splice	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367382	0.61513	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3407	0.94339	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2	210282882	1.000000	0.71417	0.997000	0.53966	0.796000	0.44982	8.852000	0.92215	2.629000	0.89072	0.563000	0.77884	.		0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	Intron	13	21	1	0	2.27e-07	2.75e-07	13	21				
FN1	2335	broad.mit.edu	37	2	216235068	216235068	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:216235068C>T	ENST00000359671.1	-	40	6794	c.6529G>A	c.(6529-6531)Gac>Aac	p.D2177N	FN1_ENST00000336916.4_Missense_Mutation_p.D2146N|FN1_ENST00000345488.5_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.D2087N|FN1_ENST00000432072.2_Missense_Mutation_p.D2058N|FN1_ENST00000443816.1_Missense_Mutation_p.D2056N|FN1_ENST00000354785.4_Missense_Mutation_p.D2268N|FN1_ENST00000323926.6_Missense_Mutation_p.D2237N|FN1_ENST00000446046.1_Missense_Mutation_p.D2121N|FN1_ENST00000357009.2_Intron|FN1_ENST00000346544.3_Missense_Mutation_p.D2057N|FN1_ENST00000421182.1_Missense_Mutation_p.D2031N|FN1_ENST00000357867.4_Missense_Mutation_p.D1967N			P02751	FINC_HUMAN	fibronectin 1	2177	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTCTGCTGGTCTTTCAGTGCC	0.522																																						uc002vfa.2		NA																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(6802-6804)GAC>AAC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						156.0	126.0	136.0					2																	216235068		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216235068C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6529G>A	2.37:g.216235068C>T	ENSP00000352696:p.Asp2177Asn					FN1_uc002vfb.2_Missense_Mutation_p.D2056N|FN1_uc002vfc.2_Missense_Mutation_p.D2031N|FN1_uc002vfd.2_Missense_Mutation_p.D2212N|FN1_uc002vfe.2_Missense_Mutation_p.D2146N|FN1_uc002vff.2_Missense_Mutation_p.D2121N|FN1_uc002vfg.2_Missense_Mutation_p.D2087N|FN1_uc002vfh.2_Missense_Mutation_p.D1967N|FN1_uc002vfi.2_Missense_Mutation_p.D2237N|FN1_uc002vfj.2_Missense_Mutation_p.D2058N|FN1_uc002vez.2_Missense_Mutation_p.D431N|FN1_uc010zjp.1_Missense_Mutation_p.D805N|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Missense_Mutation_p.D510N|FN1_uc010fvd.1_Missense_Mutation_p.D328N	p.D2268N	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	41	7068	-		Renal(323;0.127)	2177			Fibronectin type-III 16.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6802G>A		.	.	.	.	.	.	.	.	.	.	C	6.269	0.417664	0.11870	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.6	2.35	0.29111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.381140	0.24983	N	0.034051	T	0.38799	0.1054	N	0.25647	0.755	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.26975	0.091;0.165;0.001;0.0;0.001;0.001;0.011;0.001;0.006;0.002;0.002;0.001;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B	0.34180	0.177;0.075;0.001;0.004;0.001;0.005;0.03;0.007;0.019;0.019;0.011;0.005;0.007	T	0.08229	-1.0732	10	0.16896	T	0.51	.	11.1005	0.48170	0.0:0.7144:0.0:0.2856	.	1937;2057;2058;2237;1967;2087;2121;2146;2178;2031;2056;2268;2177	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	N	2031;2237;2146;1967;2268;2178;2177;2057;2121;2056;2058;2087;894	ENSP00000394423:D2031N;ENSP00000323534:D2237N;ENSP00000338200:D2146N;ENSP00000350534:D1967N;ENSP00000346839:D2268N;ENSP00000352696:D2177N;ENSP00000265312:D2057N;ENSP00000410422:D2121N;ENSP00000415018:D2056N;ENSP00000399538:D2058N;ENSP00000348285:D2087N;ENSP00000416139:D894N	ENSP00000265313:D2178N	D	-	1	0	FN1	215943313	1.000000	0.71417	0.697000	0.30258	0.805000	0.45488	3.891000	0.56227	0.714000	0.32081	0.462000	0.41574	GAC		0.522	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		5	29	0	0	0	0	5	29				
FAM83C	128876	broad.mit.edu	37	20	33874604	33874604	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:33874604C>T	ENST00000374408.3	-	4	2074	c.1978G>A	c.(1978-1980)Gct>Act	p.A660T	EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	660										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCGTGCGAGCAGGGCTTGAT	0.627																																						uc010zux.1		NA																	0				ovary(2)	2						c.(1978-1980)GCT>ACT		hypothetical protein LOC128876							49.0	42.0	44.0					20																	33874604		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33874604C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1978G>A	20.37:g.33874604C>T	ENSP00000363529:p.Ala660Thr					EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.A315T	p.A660T	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	2096	-			660					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1978G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	4.864	0.160528	0.09287	.	.	ENSG00000125998	ENST00000374408	T	0.07688	3.17	4.93	-1.01	0.10169	.	1.045920	0.07611	N	0.925295	T	0.07052	0.0179	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43653	-0.9378	10	0.30078	T	0.28	-6.1221	2.7548	0.05290	0.126:0.5243:0.123:0.2267	.	660	Q9BQN1	FA83C_HUMAN	T	660	ENSP00000363529:A660T	ENSP00000363529:A660T	A	-	1	0	FAM83C	33338018	0.049000	0.20398	0.024000	0.17045	0.133000	0.20885	0.497000	0.22514	-0.057000	0.13199	0.462000	0.41574	GCT		0.627	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			12	37	0	0	0	0	12	37				
CHD6	84181	broad.mit.edu	37	20	40068726	40068726	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:40068726G>A	ENST00000373233.3	-	26	4098	c.3921C>T	c.(3919-3921)tgC>tgT	p.C1307C	CHD6_ENST00000309279.7_Silent_p.C790C	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1307					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTCCAGGAAGCAAAGTGCTG	0.473																																						uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(3919-3921)TGC>TGT		chromodomain helicase DNA binding protein 6							121.0	107.0	112.0					20																	40068726		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40068726G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3921C>T	20.37:g.40068726G>A						CHD6_uc002xkb.1_Silent_p.C73C	p.C1307C	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			26	4099	-		Myeloproliferative disorder(115;0.00425)	1307					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.3921C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339199	0.24253	.	.	ENSG00000124177	ENST00000440697	.	.	.	5.74	0.472	0.16758	.	.	.	.	.	T	0.57946	0.2088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51188	-0.8737	4	.	.	.	-12.1373	10.3822	0.44119	0.3244:0.0:0.6756:0.0	.	.	.	.	V	493	.	.	A	-	2	0	CHD6	39502140	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.742000	0.38248	-0.111000	0.12001	0.563000	0.77884	GCT		0.473	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			19	42	0	0	0	0	19	42				
SGK2	10110	broad.mit.edu	37	20	42195737	42195737	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:42195737G>A	ENST00000341458.4	+	2	465	c.246G>A	c.(244-246)ctG>ctA	p.L82L	SGK2_ENST00000373092.3_Silent_p.L22L|SGK2_ENST00000373077.1_Silent_p.L22L|SGK2_ENST00000373100.1_Silent_p.L22L|SGK2_ENST00000423407.3_Silent_p.L22L|SGK2_ENST00000426287.1_Silent_p.L48L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	82					intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACATCAACCTGGGGCCTTCAG	0.537																																						uc002xkv.2		NA																	0				lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6						c.(244-246)CTG>CTA		serum/glucocorticoid regulated kinase 2 isoform							105.0	106.0	106.0					20																	42195737		2203	4300	6503	SO:0001819	synonymous_variant	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42195737G>A	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.246G>A	20.37:g.42195737G>A						SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Silent_p.L22L|SGK2_uc010ggm.2_Silent_p.L22L|SGK2_uc002xks.2_Silent_p.L22L|SGK2_uc002xku.2_Silent_p.L22L|SGK2_uc002xkq.1_Silent_p.L22L	p.L82L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		2	465	+		Myeloproliferative disorder(115;0.00452)	82					Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Silent	SNP	ENST00000341458.4	37	c.246G>A	CCDS13320.1																																																																																				0.537	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			9	21	0	0	0	0	9	21				
EYA2	2139	broad.mit.edu	37	20	45633631	45633631	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:45633631A>T	ENST00000327619.5	+	4	580	c.206A>T	c.(205-207)tAc>tTc	p.Y69F	EYA2_ENST00000317304.6_Missense_Mutation_p.Y69F|EYA2_ENST00000357410.3_Missense_Mutation_p.Y69F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	69					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ATGGCAGCCTACGGCCAGACG	0.587																																					Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.2		NA																	0				ovary(1)	1						c.(205-207)TAC>TTC		eyes absent 2 isoform a							89.0	88.0	88.0					20																	45633631		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45633631A>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.206A>T	20.37:g.45633631A>T	ENSP00000333640:p.Tyr69Phe					EYA2_uc010ghp.2_Missense_Mutation_p.Y69F|EYA2_uc002xsn.2_Missense_Mutation_p.Y74F|EYA2_uc002xso.2_Missense_Mutation_p.Y69F|EYA2_uc002xsp.2_Missense_Mutation_p.Y69F|EYA2_uc002xsq.2_Missense_Mutation_p.Y69F	p.Y69F	NM_005244	NP_005235	O00167	EYA2_HUMAN			4	580	+		Myeloproliferative disorder(115;0.0241)	69					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.206A>T	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.928190	0.92389	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.93019	-3.14;-2.77;-3.15;-0.94	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	M	0.80746	2.51	0.58432	D	0.99999	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.80764	0.99;0.994;0.991;0.99	D	0.97078	0.9782	10	0.87932	D	0	-22.5264	14.6571	0.68841	1.0:0.0:0.0:0.0	.	69;69;69;69	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	F	69;69;69;69;22	ENSP00000333640:Y69F;ENSP00000349986:Y69F;ENSP00000321590:Y69F;ENSP00000395427:Y22F	ENSP00000321590:Y69F	Y	+	2	0	EYA2	45067038	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.343000	0.90052	2.109000	0.64355	0.459000	0.35465	TAC		0.587	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		18	66	0	0	0	0	18	66				
SLC17A9	63910	broad.mit.edu	37	20	61594048	61594048	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:61594048C>T	ENST00000370351.4	+	5	701	c.570C>T	c.(568-570)tcC>tcT	p.S190S	SLC17A9_ENST00000370349.3_Silent_p.S184S|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	190					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTATTTCTCCGGCGGCCTCA	0.637																																						uc002yea.3		NA																	0				ovary(1)|skin(1)	2						c.(568-570)TCC>TCT		vesicular nucleotide transporter SLC17A9							115.0	134.0	128.0					20																	61594048		1997	4150	6147	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594048C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.570C>T	20.37:g.61594048C>T						SLC17A9_uc002ydz.3_Silent_p.S184S|SLC17A9_uc011aap.1_Silent_p.S210S	p.S190S	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			5	754	+			190			Helical; (Potential).		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.570C>T	CCDS42901.1																																																																																				0.637	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		44	83	0	0	0	0	44	83				
NPBWR2	2832	broad.mit.edu	37	20	62737249	62737249	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:62737249G>A	ENST00000369768.1	-	1	1275	c.936C>T	c.(934-936)aaC>aaT	p.N312N		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	312					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGAGGAAGGGGTTCAGGCACG	0.587																																						uc011abt.1		NA																	0				large_intestine(1)	1						c.(934-936)AAC>AAT		neuropeptides B/W receptor 2							183.0	124.0	144.0					20																	62737249		2202	4296	6498	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737249G>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.936C>T	20.37:g.62737249G>A							p.N312N	NM_005286	NP_005277	P48146	NPBW2_HUMAN			1	936	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		312			Cytoplasmic (Potential).		Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.936C>T	CCDS13557.1																																																																																				0.587	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		18	39	0	0	0	0	18	39				
CHAF1B	8208	broad.mit.edu	37	21	37785298	37785298	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:37785298G>T	ENST00000314103.5	+	12	1329	c.1178G>T	c.(1177-1179)aGa>aTa	p.R393I		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	393					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TTGAACATGAGAACTCCTGAT	0.483																																						uc002yvj.2		NA																	0				ovary(1)|skin(1)	2						c.(1177-1179)AGA>ATA		chromatin assembly factor 1 subunit B							76.0	78.0	77.0					21																	37785298		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37785298G>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1178G>T	21.37:g.37785298G>T	ENSP00000315700:p.Arg393Ile						p.R393I	NM_005441	NP_005432	Q13112	CAF1B_HUMAN			12	1316	+			393					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.1178G>T	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864625	0.71949	.	.	ENSG00000159259	ENST00000314103	T	0.53640	0.61	5.19	3.37	0.38596	.	0.785736	0.12630	N	0.452278	T	0.29882	0.0747	L	0.27053	0.805	0.42144	D	0.991528	B	0.28783	0.222	B	0.18561	0.022	T	0.06180	-1.0841	10	0.20519	T	0.43	-4.5724	8.2321	0.31603	0.2386:0.0:0.7614:0.0	.	393	Q13112	CAF1B_HUMAN	I	393	ENSP00000315700:R393I	ENSP00000315700:R393I	R	+	2	0	CHAF1B	36707168	0.994000	0.37717	0.059000	0.19551	0.991000	0.79684	1.573000	0.36472	1.175000	0.42826	0.558000	0.71614	AGA		0.483	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		15	35	1	0	2.49e-13	3.35e-13	15	35				
BACE2	25825	broad.mit.edu	37	21	42647329	42647329	+	Silent	SNP	C	C	T	rs151128615	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:42647329C>T	ENST00000330333.6	+	9	1798	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	BACE2_ENST00000347667.5_Silent_p.S395S|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.P389L	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	445					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTGAAATTTCCGGGCCTTTCT	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		20462	0.0		0.0	False		,,,				2504	0.002					uc002yyw.2		NA																	0				ovary(2)	2						c.(1333-1335)TCC>TCT		beta-site APP-cleaving enzyme 2 isoform A		C	,,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	112.0	106.0	108.0		1335,1185,1166	-8.9	0.9	21	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,missense	BACE2	NM_012105.3,NM_138991.1,NM_138992.1	,,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	445/519,395/469,389/397	42647329	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42647329C>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1335C>T	21.37:g.42647329C>T						BACE2_uc002yyx.2_Silent_p.S395S|BACE2_uc002yyy.2_Missense_Mutation_p.P389L|BACE2_uc010goo.2_RNA	p.S445S	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN			9	1798	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	445			Extracellular (Potential).		A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	37	c.1335C>T	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755461	0.31046	2.27E-4	0.0	ENSG00000182240	ENST00000328735	T	0.59502	0.26	5.3	-8.95	0.00765	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.24387	N	0.994769	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	8	0.72032	D	0.01	.	2.5141	0.04664	0.1671:0.4395:0.2357:0.1577	.	389	Q9Y5Z0-3	.	L	389	ENSP00000333854:P389L	ENSP00000333854:P389L	P	+	2	0	BACE2	41569199	0.207000	0.23482	0.886000	0.34754	0.328000	0.28507	-0.703000	0.05063	-1.238000	0.02535	-0.910000	0.02820	CCG		0.517	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			4	83	0	0	0	0	4	83				
DIP2A	23181	broad.mit.edu	37	21	47985689	47985689	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:47985689C>T	ENST00000417564.2	+	36	4249	c.4228C>T	c.(4228-4230)Cat>Tat	p.H1410Y	DIP2A_ENST00000318711.7_Missense_Mutation_p.H1411Y|DIP2A_ENST00000400274.1_Missense_Mutation_p.H1406Y|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1410					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGAGGCGCTTCATGCCGACCA	0.582																																						uc002zjo.2		NA																	0				ovary(2)	2						c.(4228-4230)CAT>TAT		disco-interacting protein 2A isoform a							75.0	77.0	76.0					21																	47985689		2089	4236	6325	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47985689C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4228C>T	21.37:g.47985689C>T	ENSP00000392066:p.His1410Tyr					DIP2A_uc011afz.1_Missense_Mutation_p.H1406Y|DIP2A_uc002zjs.2_Missense_Mutation_p.H90Y|DIP2A_uc002zjt.2_RNA	p.H1410Y	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	36	4411	+	Breast(49;0.0933)		1410					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.4228C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	7.626	0.677828	0.14841	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.39406	1.08;1.08;1.08	5.47	5.47	0.80525	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	L	0.41710	1.295	0.80722	D	1	D;P	0.56287	0.975;0.832	P;P	0.56648	0.803;0.625	T	0.22765	-1.0207	10	0.02654	T	1	-19.5054	18.6802	0.91544	0.0:1.0:0.0:0.0	.	1411;1410	E9PER1;Q14689	.;DIP2A_HUMAN	Y	1406;1411;1410	ENSP00000383133:H1406Y;ENSP00000323633:H1411Y;ENSP00000392066:H1410Y	ENSP00000323633:H1411Y	H	+	1	0	DIP2A	46810117	1.000000	0.71417	0.775000	0.31657	0.586000	0.36452	5.664000	0.68045	2.727000	0.93392	0.650000	0.86243	CAT		0.582	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		10	54	0	0	0	0	10	54				
XKR3	150165	broad.mit.edu	37	22	17280839	17280839	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr22:17280839G>A	ENST00000331428.5	-	3	513	c.411C>T	c.(409-411)agC>agT	p.S137S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTTTGTGATGCTAACTTGAG	0.398																																						uc002zlv.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(409-411)AGC>AGT		X Kell blood group precursor-related family,							207.0	184.0	191.0					22																	17280839		1886	4127	6013	SO:0001819	synonymous_variant	150165					integral to membrane|plasma membrane		g.chr22:17280839G>A	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.411C>T	22.37:g.17280839G>A						XKR3_uc011agf.1_Silent_p.S137S	p.S137S	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN			3	509	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	137					B2RPN1|Q52PG8|Q8N7E1	Silent	SNP	ENST00000331428.5	37	c.411C>T	CCDS42975.1																																																																																				0.398	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		34	115	0	0	0	0	34	115				
ZNF280A	129025	broad.mit.edu	37	22	22869807	22869807	+	Missense_Mutation	SNP	C	C	T	rs577671439		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr22:22869807C>T	ENST00000302097.3	-	2	400	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAAATCATCCCGACAAAGAGA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		16465	0.001		0.0	False		,,,				2504	0.0					uc002zwe.2		NA																	0				ovary(1)	1						c.(148-150)GGG>AGG		zinc finger protein 280A							158.0	132.0	141.0					22																	22869807		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869807C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.148G>A	22.37:g.22869807C>T	ENSP00000302855:p.Gly50Arg					LOC96610_uc011aim.1_Intron	p.G50R	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	401	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	50						Missense_Mutation	SNP	ENST00000302097.3	37	c.148G>A	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	5.818	0.335235	0.11013	.	.	ENSG00000169548	ENST00000302097	T	0.30182	1.54	3.8	-2.67	0.06059	.	.	.	.	.	T	0.22975	0.0555	M	0.62723	1.935	0.09310	N	1	P	0.39624	0.681	B	0.34652	0.187	T	0.10800	-1.0614	9	0.38643	T	0.18	-1.5423	4.5489	0.12098	0.0:0.3216:0.337:0.3414	.	50	P59817	Z280A_HUMAN	R	50	ENSP00000302855:G50R	ENSP00000302855:G50R	G	-	1	0	ZNF280A	21199807	0.000000	0.05858	0.010000	0.14722	0.136000	0.21042	-1.936000	0.01549	-0.665000	0.05317	-0.312000	0.09012	GGG		0.423	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		4	77	0	0	0	0	4	77				
CNTN6	27255	broad.mit.edu	37	3	1414594	1414594	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:1414594A>G	ENST00000446702.2	+	14	2368	c.1741A>G	c.(1741-1743)Aca>Gca	p.T581A	CNTN6_ENST00000350110.2_Missense_Mutation_p.T581A|CNTN6_ENST00000539053.1_Missense_Mutation_p.T509A			Q9UQ52	CNTN6_HUMAN	contactin 6	581	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CACAGTACAAACAACCCTAGA	0.368																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(1741-1743)ACA>GCA		contactin 6 precursor							133.0	139.0	137.0					3																	1414594		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1414594A>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1741A>G	3.37:g.1414594A>G	ENSP00000407822:p.Thr581Ala					CNTN6_uc011asj.1_Missense_Mutation_p.T509A|CNTN6_uc003bpa.2_Missense_Mutation_p.T581A	p.T581A	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	14	2008	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	581			Ig-like C2-type 6.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1741A>G	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.510129	0.85282	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.41065	1.01;1.01;1.01	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.70474	0.3228	M	0.88704	2.975	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.77239	-0.2661	10	0.87932	D	0	.	15.9209	0.79570	1.0:0.0:0.0:0.0	.	581	Q9UQ52	CNTN6_HUMAN	A	581;509;581	ENSP00000407822:T581A;ENSP00000442791:T509A;ENSP00000341882:T581A	ENSP00000341882:T581A	T	+	1	0	CNTN6	1389594	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	6.964000	0.76061	2.210000	0.71456	0.533000	0.62120	ACA		0.368	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		34	50	0	0	0	0	34	50				
FANCD2	2177	broad.mit.edu	37	3	10083359	10083359	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:10083359T>A	ENST00000419585.1	+	10	909	c.748T>A	c.(748-750)Tca>Aca	p.S250T	FANCD2_ENST00000287647.3_Missense_Mutation_p.S250T|FANCD2_ENST00000383806.1_Missense_Mutation_p.S250T|FANCD2_ENST00000383807.1_Missense_Mutation_p.S250T			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	250	Interaction with BRCA2.|Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GGATGTCCTTTCAAGCCTCCG	0.428			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NA	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(748-750)TCA>ACA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							108.0	104.0	105.0					3																	10083359		2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10083359T>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.748T>A	3.37:g.10083359T>A	ENSP00000398754:p.Ser250Thr					FANCD2_uc003bux.1_Missense_Mutation_p.S250T|FANCD2_uc003buy.1_Missense_Mutation_p.S250T	p.S250T	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	10	826	+			250			Interaction with FANCE.|Interaction with BRCA2.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.748T>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223810	0.58668	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.05	1.25	0.21368	.	0.146710	0.64402	N	0.000005	T	0.69079	0.3071	M	0.81682	2.555	0.36945	D	0.892587	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68565	-0.5375	10	0.56958	D	0.05	.	2.6757	0.05080	0.1487:0.0835:0.155:0.6129	.	250;250	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	T	250	ENSP00000287647:S250T;ENSP00000373318:S250T;ENSP00000373317:S250T;ENSP00000398754:S250T	ENSP00000287647:S250T	S	+	1	0	FANCD2	10058359	1.000000	0.71417	0.993000	0.49108	0.452000	0.32318	4.013000	0.57138	0.319000	0.23209	-0.472000	0.04984	TCA		0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			34	36	0	0	0	0	34	36				
CHCHD4	131474	broad.mit.edu	37	3	14154580	14154580	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:14154580G>A	ENST00000396914.3	-	3	417	c.236C>T	c.(235-237)aCg>aTg	p.T79M	CHCHD4_ENST00000295767.5_Missense_Mutation_p.T92M	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	79	CHCH.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTCCTCCGTGCTATAGTG	0.522																																						uc003byj.3		NA																	0					0						c.(235-237)ACG>ATG		coiled-coil-helix-coiled-coil-helix domain							86.0	82.0	83.0					3																	14154580		2203	4300	6503	SO:0001583	missense	131474				protein transport|transmembrane transport	mitochondrial intermembrane space		g.chr3:14154580G>A	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	26467	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)"", ""mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"""	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.236C>T	3.37:g.14154580G>A	ENSP00000380122:p.Thr79Met					CHCHD4_uc003byi.3_Missense_Mutation_p.T92M	p.T79M	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN			3	431	-			79			CHCH.		A8K3Z9|Q96AI2|Q96MY6	Missense_Mutation	SNP	ENST00000396914.3	37	c.236C>T	CCDS43054.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567247	0.65651	.	.	ENSG00000163528	ENST00000295767;ENST00000396914	T;T	0.78246	-1.16;-1.16	5.6	0.0743	0.14394	CHCH (1);	0.248082	0.46442	D	0.000288	D	0.83848	0.5343	M	0.74467	2.265	0.40663	D	0.982141	D;D	0.71674	0.98;0.998	P;P	0.60682	0.708;0.878	D	0.84444	0.0584	10	0.59425	D	0.04	-9.8193	13.2656	0.60131	0.0:0.1004:0.2377:0.6619	.	79;92	Q8N4Q1;Q8N4Q1-2	MIA40_HUMAN;.	M	92;79	ENSP00000295767:T92M;ENSP00000380122:T79M	ENSP00000295767:T92M	T	-	2	0	CHCHD4	14129581	0.914000	0.31030	0.934000	0.37439	0.851000	0.48451	1.252000	0.32874	-0.008000	0.14320	-0.238000	0.12139	ACG		0.522	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		22	17	0	0	0	0	22	17				
GMPPB	29925	broad.mit.edu	37	3	49755899	49755899	+	3'UTR	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:49755899C>T	ENST00000480687.1	-	0	4485				RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000535833.1_Missense_Mutation_p.D334N|AMIGO3_ENST00000320431.7_Missense_Mutation_p.D334N|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGCTGCCGTCGGCCAGCACC	0.667																																						uc003cxj.2		NA																	0				pancreas(1)	1						c.(1000-1002)GAC>AAC		adhesion molecule with Ig-like domain 3							40.0	43.0	42.0					3																	49755899		2202	4300	6502	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755899C>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3286G>A	3.37:g.49755899C>T						RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.D334N	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1340	-			334			Extracellular (Potential).|Ig-like C2-type.		A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.1000G>A	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	2.788	-0.251872	0.05829	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.78816	-1.21;-1.21	5.4	3.33	0.38152	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.100141	0.64402	N	0.000005	T	0.47414	0.1444	N	0.04959	-0.14	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.44498	-0.9324	10	0.02654	T	1	-30.2068	4.5169	0.11939	0.0:0.575:0.0:0.425	.	334	Q86WK7	AMGO3_HUMAN	N	334	ENSP00000323096:D334N;ENSP00000439268:D334N	ENSP00000323096:D334N	D	-	1	0	AMIGO3	49730903	0.994000	0.37717	0.299000	0.25016	0.443000	0.32047	2.689000	0.46993	1.265000	0.44215	0.462000	0.41574	GAC		0.667	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		8	31	0	0	0	0	8	31				
OR5K4	403278	broad.mit.edu	37	3	98073045	98073045	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:98073045G>T	ENST00000354924.2	+	1	348	c.348G>T	c.(346-348)gcG>gcT	p.A116A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTCTTCTGGCGACAATGGCCT	0.458																																						uc011bgv.1		NA																	0				central_nervous_system(1)	1						c.(346-348)GCG>GCT		olfactory receptor, family 5, subfamily K,							183.0	185.0	184.0					3																	98073045		2203	4300	6503	SO:0001819	synonymous_variant	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073045G>T		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.348G>T	3.37:g.98073045G>T							p.A116A	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	348	+			116			Helical; Name=3; (Potential).			Silent	SNP	ENST00000354924.2	37	c.348G>T	CCDS33802.1																																																																																				0.458	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			177	140	1	0	1.3e-97	1.91e-97	177	140				
DPPA4	55211	broad.mit.edu	37	3	109050598	109050598	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:109050598C>A	ENST00000335658.6	-	4	427	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	125					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTTGGGTAGGCAAAGGCACAC	0.403																																						uc003dxq.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(373-375)GCC>TCC		developmental pluripotency associated 4							107.0	102.0	104.0					3																	109050598		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109050598C>A	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.373G>T	3.37:g.109050598C>A	ENSP00000335306:p.Ala125Ser					DPPA4_uc011bho.1_Missense_Mutation_p.A125S|DPPA4_uc011bhp.1_Missense_Mutation_p.A125S	p.A125S	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			4	428	-			125					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.373G>T	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629536	0.46944	.	.	ENSG00000121570	ENST00000335658	T	0.55588	0.51	4.11	3.21	0.36854	.	0.350255	0.24843	N	0.035160	T	0.62877	0.2464	L	0.52364	1.645	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.977;0.996	T	0.51036	-0.8756	9	.	.	.	-15.6698	9.836	0.40968	0.0:0.7915:0.2085:0.0	.	115;125;125	B7Z5Q7;B7Z595;Q7L190	.;.;DPPA4_HUMAN	S	125	ENSP00000335306:A125S	.	A	-	1	0	DPPA4	110533288	0.576000	0.26700	0.012000	0.15200	0.002000	0.02628	0.796000	0.26986	1.295000	0.44724	0.650000	0.86243	GCC		0.403	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		15	132	1	0	5.39e-06	6.25e-06	15	132				
SEMA5B	54437	broad.mit.edu	37	3	122646688	122646688	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:122646688C>T	ENST00000357599.3	-	8	1185	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Missense_Mutation_p.G267S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G321S	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	267	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCCCACTGCCCAGGCTGCGG	0.617																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(799-801)GGC>AGC		semaphorin 5B isoform 1							67.0	66.0	66.0					3																	122646688		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646688C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.799G>A	3.37:g.122646688C>T	ENSP00000350215:p.Gly267Ser					SEMA5B_uc011bju.1_Missense_Mutation_p.G209S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.G267S|SEMA5B_uc010hro.1_Missense_Mutation_p.G209S|SEMA5B_uc010hrp.1_RNA	p.G267S	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	1103	-			267			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.799G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427035	0.96131	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.01889	-1.1253	10	0.38643	T	0.18	.	18.6325	0.91364	0.0:1.0:0.0:0.0	.	209;267;267	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	S	267;267;209;321;267	ENSP00000350215:G267S;ENSP00000195173:G267S;ENSP00000389588:G321S;ENSP00000377208:G267S	ENSP00000195173:G267S	G	-	1	0	SEMA5B	124129378	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	GGC		0.617	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		51	45	0	0	0	0	51	45				
MYLK	4638	broad.mit.edu	37	3	123451900	123451900	+	Silent	SNP	G	G	T	rs200973568		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:123451900G>T	ENST00000475616.1	-	8	1358	c.1359C>A	c.(1357-1359)ccC>ccA	p.P453P	MYLK_ENST00000360304.3_Silent_p.P453P|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360772.3_Silent_p.P453P|MYLK_ENST00000359169.1_Silent_p.P453P			Q15746	MYLK_HUMAN	myosin light chain kinase	453	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTCTCCTCACGGGGGTGCCTT	0.572																																						uc003ego.2		NA																	0				ovary(6)|skin(2)|stomach(1)	9						c.(1357-1359)CCC>CCA		myosin light chain kinase isoform 1							56.0	49.0	52.0					3																	123451900		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123451900G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1359C>A	3.37:g.123451900G>T						MYLK_uc011bjw.1_Silent_p.P453P|MYLK_uc003egp.2_Intron|MYLK_uc003egq.2_Silent_p.P453P|MYLK_uc003egr.2_Intron|MYLK_uc003egs.2_Silent_p.P277P	p.P453P	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	11	1641	-		Lung NSC(201;0.0496)	453			Ig-like C2-type 3.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.1359C>A	CCDS46896.1																																																																																				0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		25	28	1	0	3.74e-20	5.27e-20	25	28				
ITGB5	3693	broad.mit.edu	37	3	124538590	124538590	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:124538590T>C	ENST00000296181.4	-	7	1330	c.1034A>G	c.(1033-1035)tAc>tGc	p.Y345C		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	345	VWFA.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GCATACCTTGTACAGCATATA	0.483																																						uc003eho.2		NA																	0				skin(2)	2						c.(1033-1035)TAC>TGC		integrin, beta 5 precursor							188.0	158.0	168.0					3																	124538590		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124538590T>C	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1034A>G	3.37:g.124538590T>C	ENSP00000296181:p.Tyr345Cys					ITGB5_uc010hrx.2_5'Flank	p.Y345C	NM_002213	NP_002204	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	7	1331	-			345			VWFA.|Extracellular (Potential).		B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.1034A>G	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.205139|4.205139	0.79127|0.79127	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000481591|ENST00000296181	.|D	.|0.96651	.|-4.08	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98620|0.98620	0.9538|0.9538	H|H	0.95151|0.95151	3.63|3.63	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99643|0.99643	1.0989|1.0989	5|10	.|0.87932	.|D	.|0	.|.	13.8974|13.8974	0.63781|0.63781	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|345	.|P18084	.|ITB5_HUMAN	A|C	80|345	.|ENSP00000296181:Y345C	.|ENSP00000296181:Y345C	T|Y	-|-	1|2	0|0	ITGB5|ITGB5	126021280|126021280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.750000|7.750000	0.85110|0.85110	2.201000|2.201000	0.70794|0.70794	0.460000|0.460000	0.39030|0.39030	ACA|TAC		0.483	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		21	95	0	0	0	0	21	95				
ISY1	57461	broad.mit.edu	37	3	128849001	128849001	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:128849001T>C	ENST00000393295.3	-	11	1098	c.781A>G	c.(781-783)Atg>Gtg	p.M261V	ISY1_ENST00000393292.3_3'UTR|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.M261V|ISY1_ENST00000273541.8_Missense_Mutation_p.M283V|ISY1_ENST00000471497.1_5'UTR	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	261					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						AGGAGTTCCATTTTCTTCCTT	0.567																																						uc003elo.1		NA																	0				lung(1)	1						c.(781-783)ATG>GTG		ISY1 splicing factor homolog							110.0	113.0	112.0					3																	128849001		1929	4142	6071	SO:0001583	missense	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128849001T>C		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.781A>G	3.37:g.128849001T>C	ENSP00000376973:p.Met261Val					ISY1_uc010hsz.1_Missense_Mutation_p.M81V|ISY1_uc003elp.1_Missense_Mutation_p.M261V|ISY1_uc010hta.1_Missense_Mutation_p.M283V	p.M261V	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN			11	992	-			Error:Variant_position_missing_in_Q86YS6_after_alignment					Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	c.781A>G	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870249	0.51588	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541	T	0.30182	1.54	5.59	5.59	0.84812	.	0.083248	0.85682	D	0.000000	T	0.37376	0.1001	M	0.72894	2.215	0.80722	D	1	B;B;B	0.32365	0.297;0.367;0.297	B;B;B	0.37550	0.146;0.253;0.219	T	0.21449	-1.0245	10	0.42905	T	0.14	.	12.145	0.54018	0.0:0.0:0.0:1.0	.	283;261;261	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	V	261;261;283	ENSP00000273541:M283V	ENSP00000273541:M283V	M	-	1	0	ISY1	130331691	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.981000	0.63819	2.130000	0.65690	0.397000	0.26171	ATG		0.567	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		26	104	0	0	0	0	26	104				
COL6A6	131873	broad.mit.edu	37	3	130327809	130327809	+	Splice_Site	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:130327809G>T	ENST00000358511.6	+	21	4783		c.e21+1		COL6A6_ENST00000453409.2_Splice_Site	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGGCCCTCAGGTACATATCAA	0.463																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.e21+1		collagen type VI alpha 6 precursor							55.0	55.0	55.0					3																	130327809		1944	4144	6088	SO:0001630	splice_region_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130327809G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4752+1G>T	3.37:g.130327809G>T						COL6A6_uc003eni.3_Splice_Site	p.Q1584_splice	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			21	4783	+								A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Splice_Site	SNP	ENST00000358511.6	37	c.4752_splice	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007884	0.54361	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.44	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4881	0.44735	0.0903:0.0:0.9097:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A6	131810499	1.000000	0.71417	0.986000	0.45419	0.681000	0.39784	4.342000	0.59341	1.430000	0.47334	0.650000	0.86243	.		0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	Intron	9	50	1	0	1.13e-05	1.29e-05	9	50				
PRR23B	389151	broad.mit.edu	37	3	138739052	138739052	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:138739052T>A	ENST00000329447.5	-	1	716	c.452A>T	c.(451-453)cAg>cTg	p.Q151L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	151										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCTCTTCCTGGGCGGCGAT	0.652																																						uc003esy.1		NA																	0				breast(1)	1						c.(451-453)CAG>CTG		proline rich 23B							42.0	48.0	46.0					3																	138739052		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138739052T>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.452A>T	3.37:g.138739052T>A	ENSP00000328768:p.Gln151Leu						p.Q151L	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	717	-			151					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.452A>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.516376	0.27123	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.05	-1.34	0.09143	.	0.759254	0.10704	N	0.643670	T	0.35828	0.0945	M	0.68952	2.095	0.09310	N	1	B	0.33413	0.411	B	0.33846	0.171	T	0.38134	-0.9675	9	0.87932	D	0	.	3.5673	0.07904	0.4002:0.0:0.2056:0.3942	.	151	Q6ZRT6	PR23B_HUMAN	L	151	.	ENSP00000328768:Q151L	Q	-	2	0	PRR23B	140221742	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.305000	0.08188	-0.222000	0.09958	-0.715000	0.03620	CAG		0.652	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		19	110	0	0	0	0	19	110				
U2SURP	23350	broad.mit.edu	37	3	142742816	142742816	+	Splice_Site	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:142742816G>A	ENST00000473835.2	+	13	1320		c.e13-1		U2SURP_ENST00000397933.2_Intron|U2SURP_ENST00000493598.2_Splice_Site	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TTCATATACAGACTCTGTCGC	0.303																																						uc003evh.1		NA																	0					0						c.e13-1		U2-associated SR140 protein							100.0	99.0	99.0					3																	142742816		1850	4086	5936	SO:0001630	splice_region_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142742816G>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1231-1G>A	3.37:g.142742816G>A						SR140_uc003evi.1_Intron|SR140_uc003evj.1_Splice_Site|SR140_uc003evk.1_Splice_Site_p.T410_splice|SR140_uc003evl.1_5'Flank	p.T411_splice	NM_001080415	NP_001073884	O15042	SR140_HUMAN			13	1330	+								A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Splice_Site	SNP	ENST00000473835.2	37	c.1231_splice	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201246	0.58234	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2SURP	144225506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	.		0.303	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	Intron	7	64	0	0	0	0	7	64				
CHST2	9435	broad.mit.edu	37	3	142840860	142840860	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:142840860G>A	ENST00000309575.3	+	2	2586	c.1202G>A	c.(1201-1203)aGt>aAt	p.S401N		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	401					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						ATCTGCAATAGTATGGCTAAG	0.652																																						uc003evm.2		NA																	0				ovary(3)	3						c.(1201-1203)AGT>AAT		carbohydrate (N-acetylglucosamine-6-O)							48.0	57.0	54.0					3																	142840860		2202	4299	6501	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840860G>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1202G>A	3.37:g.142840860G>A	ENSP00000307911:p.Ser401Asn						p.S401N	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	2091	+			401			Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1202G>A	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653764	0.67472	.	.	ENSG00000175040	ENST00000309575	D	0.82984	-1.67	4.47	4.47	0.54385	Sulfotransferase domain (1);	0.172634	0.50627	D	0.000102	T	0.79890	0.4524	N	0.17838	0.53	0.52099	D	0.999944	P	0.52170	0.951	P	0.52758	0.708	T	0.77523	-0.2556	10	0.22109	T	0.4	-14.1347	17.3237	0.87242	0.0:0.0:1.0:0.0	.	401	Q9Y4C5	CHST2_HUMAN	N	401	ENSP00000307911:S401N	ENSP00000307911:S401N	S	+	2	0	CHST2	144323550	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.685000	0.84117	2.322000	0.78497	0.407000	0.27541	AGT		0.652	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		23	129	0	0	0	0	23	129				
MED12L	116931	broad.mit.edu	37	3	151082978	151082978	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:151082978C>T	ENST00000474524.1	+	20	3102	c.3064C>T	c.(3064-3066)Cat>Tat	p.H1022Y	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.H882Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1022						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGTATGGGCCATCAGGATGC	0.463																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(3064-3066)CAT>TAT		mediator of RNA polymerase II transcription,							138.0	126.0	130.0					3																	151082978		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151082978C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3064C>T	3.37:g.151082978C>T	ENSP00000417235:p.His1022Tyr					MED12L_uc011bnz.1_Missense_Mutation_p.H882Y|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.H185Y	p.H1022Y	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		20	3102	+			1022					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.3064C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198470	0.79015	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.29142	1.58;1.58	5.6	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	L	0.40543	1.245	0.80722	D	1	D;D;P	0.60575	0.988;0.978;0.707	P;P;B	0.57204	0.815;0.549;0.188	T	0.22591	-1.0212	10	0.87932	D	0	-12.3016	10.0722	0.42339	0.0:0.7901:0.137:0.0729	.	882;1021;1022	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Y	1022;882	ENSP00000417235:H1022Y;ENSP00000273432:H882Y	ENSP00000273432:H882Y	H	+	1	0	MED12L	152565668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.449000	0.66619	1.499000	0.48617	0.650000	0.86243	CAT		0.463	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		79	126	0	0	0	0	79	126				
MECOM	2122	broad.mit.edu	37	3	169099256	169099256	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:169099256C>A	ENST00000494292.1	-	2	191	c.94G>T	c.(94-96)Gca>Tca	p.A32S	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	32					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTCCATCTGCATCTGGCATT	0.428																																						uc011bpj.1		NA																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(94-96)GCA>TCA		MDS1 and EVI1 complex locus isoform c							53.0	54.0	54.0					3																	169099256		1922	4133	6055	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169099256C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.94G>T	3.37:g.169099256C>A	ENSP00000417899:p.Ala32Ser					MECOM_uc003ffl.2_Missense_Mutation_p.A4S|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.A32S|MECOM_uc011bpl.1_Missense_Mutation_p.A32S	p.A32S	NM_004991	NP_004982	Q03112	EVI1_HUMAN			2	497	-			Error:Variant_position_missing_in_Q03112_after_alignment					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000494292.1	37	c.94G>T		.	.	.	.	.	.	.	.	.	.	C	12.25	1.880311	0.33162	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	T	0.05580	3.42	5.83	4.96	0.65561	.	0.202695	0.34750	N	0.003715	T	0.10465	0.0256	L	0.57536	1.79	0.80722	D	1	P;B	0.48294	0.908;0.073	P;B	0.45753	0.492;0.025	T	0.12268	-1.0554	10	0.32370	T	0.25	.	11.9644	0.53027	0.0:0.8613:0.0:0.1387	.	32;32	Q13465;Q03112-3	MDS1_HUMAN;.	S	32;56	ENSP00000417899:A32S	ENSP00000419537:A56S	A	-	1	0	MECOM	170581950	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	1.821000	0.39041	1.489000	0.48450	-0.145000	0.13849	GCA		0.428	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3	NM_005241, NM_004991		5	64	1	0	1.24e-05	1.41e-05	5	64				
SAMD7	344658	broad.mit.edu	37	3	169639092	169639092	+	Silent	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:169639092T>C	ENST00000428432.2	+	4	566	c.177T>C	c.(175-177)aaT>aaC	p.N59N	SAMD7_ENST00000335556.3_Silent_p.N59N	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	59										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAACACAAATATGGCAAATG	0.438																																						uc003fgd.2		NA																	0				skin(1)	1						c.(175-177)AAT>AAC		sterile alpha motif domain containing 7							147.0	125.0	133.0					3																	169639092		2203	4300	6503	SO:0001819	synonymous_variant	344658							g.chr3:169639092T>C	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.177T>C	3.37:g.169639092T>C						SAMD7_uc003fge.2_Silent_p.N59N|SAMD7_uc011bpo.1_5'UTR	p.N59N	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		4	444	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		59						Silent	SNP	ENST00000428432.2	37	c.177T>C	CCDS3209.1																																																																																				0.438	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		29	124	0	0	0	0	29	124				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	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.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			29	27	0	0	0	0	29	27				
KCNMB3	27094	broad.mit.edu	37	3	178984452	178984452	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:178984452C>A	ENST00000349697.2	-	1	307	c.47G>T	c.(46-48)cGg>cTg	p.R16L	KCNMB3_ENST00000497599.1_Missense_Mutation_p.R16L	NM_171828.1	NP_741979.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	0					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	CTGGCGCCTCCGGCTGCCCTG	0.597																																						uc003fjp.1		NA																	0					0						c.(46-48)CGG>CTG		calcium-activated potassium channel beta 3							52.0	51.0	52.0					3																	178984452		2203	4300	6503	SO:0001583	missense	27094				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity	g.chr3:178984452C>A	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000349697.2:c.47G>T	3.37:g.178984452C>A	ENSP00000327866:p.Arg16Leu					KCNMB3_uc011bqc.1_Missense_Mutation_p.R16L	p.R16L	NM_171828	NP_741979	Q9NPA1	KCMB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		1	387	-	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		Error:Variant_position_missing_in_Q9NPA1_after_alignment					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000349697.2	37	c.47G>T	CCDS3225.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999739	0.35320	.	.	ENSG00000171121	ENST00000497599;ENST00000349697	T;T	0.27256	1.68;2.43	5.45	3.68	0.42216	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.80722	D	1	P;P	0.39424	0.499;0.673	B;B	0.40982	0.106;0.345	T	0.07366	-1.0776	9	0.66056	D	0.02	.	8.3354	0.32211	0.0:0.8199:0.0:0.1801	.	16;16	E9PER5;Q9NPA1-2	.;.	L	16	ENSP00000417091:R16L;ENSP00000327866:R16L	ENSP00000327866:R16L	R	-	2	0	KCNMB3	180467146	0.374000	0.25081	0.805000	0.32314	0.371000	0.29859	0.732000	0.26072	0.699000	0.31761	0.555000	0.69702	CGG		0.597	KCNMB3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358530.1			24	31	1	0	2.89e-11	3.79e-11	24	31				
EPHA5	2044	broad.mit.edu	37	4	66230769	66230769	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:66230769A>G	ENST00000273854.3	-	12	2802	c.2202T>C	c.(2200-2202)ccT>ccC	p.P734P	EPHA5_ENST00000432638.2_Silent_p.P571P|EPHA5_ENST00000354839.4_Silent_p.P712P|EPHA5_ENST00000511294.1_Silent_p.P735P	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	734	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGATGATGTTAGGATGATCAA	0.363										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2200-2202)CCT>CCC		ephrin receptor EphA5 isoform a precursor							219.0	208.0	212.0					4																	66230769		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66230769A>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2202T>C	4.37:g.66230769A>G		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.P666P|EPHA5_uc003hcz.2_Silent_p.P712P|EPHA5_uc011cah.1_Silent_p.P735P|EPHA5_uc011cai.1_Silent_p.P713P|EPHA5_uc003hda.2_Silent_p.P735P	p.P734P	NM_004439	NP_004430	P54756	EPHA5_HUMAN			12	2395	-			734			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.2202T>C	CCDS3513.1																																																																																				0.363	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		34	45	0	0	0	0	34	45				
PDHA2	5161	broad.mit.edu	37	4	96761669	96761669	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:96761669A>G	ENST00000295266.4	+	1	431	c.368A>G	c.(367-369)tAt>tGt	p.Y123C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	123					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GGTGTGTGCTATACTCGGGGA	0.522																																						uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(367-369)TAT>TGT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						110.0	96.0	101.0					4																	96761669		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761669A>G		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.368A>G	4.37:g.96761669A>G	ENSP00000295266:p.Tyr123Cys						p.Y123C	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	431	+		Hepatocellular(203;0.114)	123					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.368A>G	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543194	0.27563	.	.	ENSG00000163114	ENST00000295266	D	0.95821	-3.82	4.77	-3.64	0.04515	Dehydrogenase, E1 component (1);	0.135891	0.51477	D	0.000088	D	0.96765	0.8944	M	0.93328	3.405	0.20074	N	0.999938	D	0.64830	0.994	D	0.67382	0.951	D	0.90601	0.4544	10	0.87932	D	0	-0.9371	2.0835	0.03640	0.3783:0.1256:0.0778:0.4182	.	123	P29803	ODPAT_HUMAN	C	123	ENSP00000295266:Y123C	ENSP00000295266:Y123C	Y	+	2	0	PDHA2	96980692	0.055000	0.20627	0.000000	0.03702	0.087000	0.18053	1.389000	0.34453	-0.617000	0.05664	0.383000	0.25322	TAT		0.522	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			13	39	0	0	0	0	13	39				
CENPE	1062	broad.mit.edu	37	4	104060953	104060953	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104060953A>T	ENST00000265148.3	-	38	6286	c.6197T>A	c.(6196-6198)aTa>aAa	p.I2066K	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2066					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CACTCTAGCTATCATTTCCCT	0.313																																						uc003hxb.1		NA																	0				ovary(5)|breast(4)	9						c.(6196-6198)ATA>AAA		centromere protein E							133.0	130.0	131.0					4																	104060953		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104060953A>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6197T>A	4.37:g.104060953A>T	ENSP00000265148:p.Ile2066Lys					CENPE_uc003hxc.1_Intron|CENPE_uc003hxd.1_Intron	p.I2066K	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	38	6287	-			2066			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.6197T>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669967	0.29693	.	.	ENSG00000138778	ENST00000265148;ENST00000394771	T	0.70516	-0.49	5.16	-1.08	0.09936	.	.	.	.	.	T	0.47563	0.1452	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.35251	-0.9796	9	0.02654	T	1	.	3.8391	0.08906	0.5645:0.2454:0.0762:0.1138	.	2066	Q02224	CENPE_HUMAN	K	2066	ENSP00000265148:I2066K	ENSP00000265148:I2066K	I	-	2	0	CENPE	104280402	0.000000	0.05858	0.088000	0.20740	0.948000	0.59901	0.155000	0.16362	-0.024000	0.13941	0.450000	0.29827	ATA		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				25	29	0	0	0	0	25	29				
CENPE	1062	broad.mit.edu	37	4	104079563	104079563	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104079563T>A	ENST00000265148.3	-	24	3016	c.2927A>T	c.(2926-2928)cAt>cTt	p.H976L	CENPE_ENST00000380026.3_Missense_Mutation_p.H951L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	976					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTCTTGATGTTGTTTCAG	0.284																																						uc003hxb.1		NA																	0				ovary(5)|breast(4)	9						c.(2926-2928)CAT>CTT		centromere protein E							52.0	50.0	50.0					4																	104079563		2201	4292	6493	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104079563T>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2927A>T	4.37:g.104079563T>A	ENSP00000265148:p.His976Leu					CENPE_uc003hxc.1_Missense_Mutation_p.H951L	p.H976L	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	24	3017	-			976			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.2927A>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	0.252	-1.005653	0.02112	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.94497	-3.44;-3.44;-3.44	4.58	4.58	0.56647	.	.	.	.	.	D	0.91633	0.7356	L	0.57536	1.79	0.26060	N	0.981364	B;P	0.35077	0.386;0.483	B;B	0.33799	0.17;0.058	D	0.85480	0.1178	9	0.38643	T	0.18	.	8.6635	0.34108	0.0:0.0:0.1926:0.8074	.	951;976	Q02224-3;Q02224	.;CENPE_HUMAN	L	976;976;951;976	ENSP00000265148:H976L;ENSP00000369365:H951L;ENSP00000423981:H976L	ENSP00000265148:H976L	H	-	2	0	CENPE	104299012	0.961000	0.32948	0.997000	0.53966	0.270000	0.26580	1.378000	0.34328	1.824000	0.53156	0.528000	0.53228	CAT		0.284	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	3	0	0	0	0	8	3				
TACR3	6870	broad.mit.edu	37	4	104579544	104579544	+	Missense_Mutation	SNP	C	C	T	rs201823274		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104579544C>T	ENST00000304883.2	-	2	705	c.565G>A	c.(565-567)Gat>Aat	p.D189N		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	189					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCAAGGGATCAATAATAGCC	0.353																																						uc003hxe.1		NA																	0				ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(565-567)GAT>AAT		tachykinin receptor 3							87.0	83.0	84.0					4																	104579544		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104579544C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.565G>A	4.37:g.104579544C>T	ENSP00000303325:p.Asp189Asn						p.D189N	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	2	708	-		Hepatocellular(203;0.217)	189			Cytoplasmic (Potential).		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.565G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736205	0.49045	.	.	ENSG00000169836	ENST00000304883	T	0.35236	1.32	5.87	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.046744	0.85682	D	0.000000	T	0.21103	0.0508	N	0.02802	-0.49	0.44214	D	0.997042	P	0.36183	0.542	B	0.39771	0.309	T	0.16482	-1.0401	10	0.33940	T	0.23	.	16.2743	0.82636	0.0:0.8682:0.1318:0.0	.	189	P29371	NK3R_HUMAN	N	189	ENSP00000303325:D189N	ENSP00000303325:D189N	D	-	1	0	TACR3	104798993	1.000000	0.71417	0.992000	0.48379	0.897000	0.52465	4.157000	0.58144	2.801000	0.96364	0.454000	0.30748	GAT		0.353	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		6	23	0	0	0	0	6	23				
ETNPPL	64850	broad.mit.edu	37	4	109681049	109681049	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:109681049G>T	ENST00000296486.3	-	3	345	c.191C>A	c.(190-192)cCa>cAa	p.P64Q	ETNPPL_ENST00000512646.1_Missense_Mutation_p.P6Q|ETNPPL_ENST00000510706.1_Missense_Mutation_p.P24Q|ETNPPL_ENST00000411864.2_Intron	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	64						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										GACCACTCCTGGGTGACAGTG	0.413																																						uc003hzc.2		NA																	0				ovary(1)	1						c.(190-192)CCA>CAA		alanine-glyoxylate aminotransferase 2-like 1							76.0	69.0	71.0					4																	109681049		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109681049G>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.191C>A	4.37:g.109681049G>T	ENSP00000296486:p.Pro64Gln					AGXT2L1_uc010imc.2_Intron|AGXT2L1_uc011cfm.1_Missense_Mutation_p.P24Q|AGXT2L1_uc011cfn.1_5'UTR|AGXT2L1_uc011cfo.1_Missense_Mutation_p.P6Q	p.P64Q	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	3	372	-			64					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.191C>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755347	0.89843	.	.	ENSG00000164089	ENST00000296486;ENST00000512646;ENST00000510706;ENST00000510723	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.52	5.52	0.82312	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.106364	0.64402	D	0.000004	D	0.96632	0.8901	M	0.92507	3.315	0.80722	D	1	D;D	0.76494	0.988;0.999	D;D	0.77004	0.973;0.989	D	0.97168	0.9842	9	.	.	.	-15.3697	19.4259	0.94741	0.0:0.0:1.0:0.0	.	6;64	E9PBY0;Q8TBG4	.;AT2L1_HUMAN	Q	64;6;24;6	ENSP00000296486:P64Q;ENSP00000427065:P6Q;ENSP00000423240:P24Q;ENSP00000426525:P6Q	.	P	-	2	0	AGXT2L1	109900498	1.000000	0.71417	0.967000	0.41034	0.940000	0.58332	7.907000	0.87430	2.594000	0.87642	0.557000	0.71058	CCA		0.413	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		10	19	1	0	9.05e-12	1.2e-11	10	19				
PRDM5	11107	broad.mit.edu	37	4	121631548	121631548	+	Silent	SNP	T	T	A	rs374866663		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:121631548T>A	ENST00000264808.3	-	15	1884	c.1644A>T	c.(1642-1644)tcA>tcT	p.S548S	PRDM5_ENST00000428209.2_Silent_p.S517S|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_Nonsense_Mutation_p.R489*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	548					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCTGCACTCTGAGCACTTGT	0.473																																						uc003idn.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1642-1644)TCA>TCT		PR domain containing 5		T		1,4405	2.1+/-5.4	0,1,2202	129.0	95.0	107.0		1644	-10.9	0.9	4		107	0,8600		0,0,4300	no	coding-synonymous	PRDM5	NM_018699.2		0,1,6502	AA,AT,TT		0.0,0.0227,0.0077		548/631	121631548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121631548T>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1644A>T	4.37:g.121631548T>A						PRDM5_uc003ido.2_Silent_p.S517S|PRDM5_uc010ine.2_Nonsense_Mutation_p.R489*	p.S548S	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			15	1894	-			548			C2H2-type 14.		Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	c.1644A>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	41	8.724955	0.98929	2.27E-4	0.0	ENSG00000138738	ENST00000515109	.	.	.	5.45	-10.9	0.00192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9531	0.173	0.00115	0.2739:0.2038:0.2555:0.2668	.	.	.	.	X	489	.	.	R	-	1	2	PRDM5	121850998	0.000000	0.05858	0.889000	0.34880	0.993000	0.82548	-2.535000	0.00940	-1.341000	0.02225	-0.451000	0.05528	AGA		0.473	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			9	21	0	0	0	0	9	21				
KIAA1109	84162	broad.mit.edu	37	4	123107289	123107289	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:123107289G>T	ENST00000264501.4	+	7	830	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G153C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G153C			Q2LD37	K1109_HUMAN	KIAA1109	153					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAGTTGTTTGGTTTGGAGCC	0.378																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(457-459)GGT>TGT		fragile site-associated protein							110.0	106.0	107.0					4																	123107289		1821	4085	5906	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123107289G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.457G>T	4.37:g.123107289G>T	ENSP00000264501:p.Gly153Cys					KIAA1109_uc003iei.1_5'UTR	p.G153C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			5	502	+			153					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.457G>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701503	0.88924	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	D;D;D	0.94966	-3.57;-3.57;-3.57	4.94	4.94	0.65067	.	0.295353	0.18944	U	0.126844	D	0.96494	0.8856	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96845	0.9621	10	0.62326	D	0.03	.	18.1682	0.89736	0.0:0.0:1.0:0.0	.	153	Q2LD37	K1109_HUMAN	C	153	ENSP00000264501:G153C;ENSP00000373390:G153C;ENSP00000389925:G153C	ENSP00000264501:G153C	G	+	1	0	KIAA1109	123326739	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.605000	0.98321	2.281000	0.76405	0.467000	0.42956	GGT		0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		16	26	1	0	3.41e-10	4.41e-10	16	26				
SPOCK3	50859	broad.mit.edu	37	4	167656083	167656083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:167656083C>T	ENST00000357154.3	-	12	1437	c.1300G>A	c.(1300-1302)Gta>Ata	p.V434I	SPOCK3_ENST00000511269.1_Missense_Mutation_p.V431I|SPOCK3_ENST00000357545.4_Missense_Mutation_p.V431I|SPOCK3_ENST00000511531.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000510741.1_Missense_Mutation_p.V391I|SPOCK3_ENST00000504953.1_Missense_Mutation_p.V431I|SPOCK3_ENST00000541354.1_Missense_Mutation_p.V314I|SPOCK3_ENST00000506886.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000535728.1_Missense_Mutation_p.V302I|SPOCK3_ENST00000534949.1_Missense_Mutation_p.V338I|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000421836.2_Missense_Mutation_p.V383I|SPOCK3_ENST00000541637.1_Missense_Mutation_p.V336I|SPOCK3_ENST00000512681.1_Missense_Mutation_p.V336I|SPOCK3_ENST00000502330.1_Missense_Mutation_p.V434I	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	434	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		caaatgtatacatcatggtca	0.303																																						uc003iri.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1300-1302)GTA>ATA		testican 3 isoform 2							151.0	143.0	145.0					4																	167656083		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167656083C>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1300G>A	4.37:g.167656083C>T	ENSP00000349677:p.Val434Ile					SPOCK3_uc011cjp.1_Missense_Mutation_p.V391I|SPOCK3_uc011cjq.1_Missense_Mutation_p.V443I|SPOCK3_uc011cjr.1_Missense_Mutation_p.V314I|SPOCK3_uc003irj.1_Missense_Mutation_p.V431I|SPOCK3_uc011cjs.1_Missense_Mutation_p.V383I|SPOCK3_uc011cjt.1_Missense_Mutation_p.V342I|SPOCK3_uc011cju.1_Missense_Mutation_p.V327I|SPOCK3_uc011cjv.1_Missense_Mutation_p.V336I	p.V434I	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	12	1441	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	434			Asp-rich.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.1300G>A	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	7.163	0.586113	0.13749	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42900	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.44;0.96;1.54;1.54;1.32;0.96;1.19	5.14	5.14	0.70334	.	0.403213	0.23411	N	0.048476	T	0.26593	0.0650	N	0.08118	0	0.21147	N	0.999772	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.0;0.0;0.0	T	0.06232	-1.0838	10	0.22109	T	0.4	-1.3048	18.9686	0.92707	0.0:1.0:0.0:0.0	.	336;338;383;443;391;431;434	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	I	434;431;431;434;434;434;391;314;336;431;302;383;336;338	ENSP00000349677:V434I;ENSP00000350153:V431I;ENSP00000425570:V431I;ENSP00000420920:V434I;ENSP00000423421:V434I;ENSP00000423606:V434I;ENSP00000426716:V391I;ENSP00000444789:V314I;ENSP00000426318:V336I;ENSP00000425502:V431I;ENSP00000441396:V302I;ENSP00000411344:V383I;ENSP00000445430:V336I;ENSP00000438142:V338I	ENSP00000349677:V434I	V	-	1	0	SPOCK3	167892658	1.000000	0.71417	0.995000	0.50966	0.015000	0.08874	5.206000	0.65192	2.552000	0.86080	0.637000	0.83480	GTA		0.303	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			20	23	0	0	0	0	20	23				
SH3RF1	57630	broad.mit.edu	37	4	170017675	170017675	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:170017675T>C	ENST00000284637.9	-	12	3003	c.2662A>G	c.(2662-2664)Ata>Gta	p.I888V		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	888	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCTCCTCATATGTTTTCCACA	0.403																																						uc003isa.1		NA																	0				breast(2)|lung(1)	3						c.(2662-2664)ATA>GTA		SH3 domain containing ring finger 1							160.0	155.0	157.0					4																	170017675		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170017675T>C	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2662A>G	4.37:g.170017675T>C	ENSP00000284637:p.Ile888Val						p.I888V	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	12	2997	-		Prostate(90;0.00267)|Renal(120;0.0183)	888			SH3 4.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.2662A>G	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229730	0.39399	.	.	ENSG00000154447	ENST00000284637	T	0.14766	2.48	5.6	4.38	0.52667	Src homology-3 domain (3);	0.199311	0.51477	D	0.000097	T	0.09069	0.0224	N	0.21194	0.64	0.48040	D	0.999573	B	0.09022	0.002	B	0.08055	0.003	T	0.15694	-1.0428	10	0.41790	T	0.15	.	7.7101	0.28673	0.1254:0.0695:0.0:0.8051	.	888	Q7Z6J0	SH3R1_HUMAN	V	888	ENSP00000284637:I888V	ENSP00000284637:I888V	I	-	1	0	SH3RF1	170254250	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	1.485000	0.35519	0.891000	0.36235	0.455000	0.32223	ATA		0.403	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		31	47	0	0	0	0	31	47				
EXOC3	11336	broad.mit.edu	37	5	466943	466943	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:466943G>A	ENST00000512944.1	+	13	2357	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	CTD-2228K2.5_ENST00000510714.1_Intron|EXOC3_ENST00000315013.5_Missense_Mutation_p.S723N	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	734					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCACAGGCCAGCCCCAGCTAC	0.662																																						uc003jba.2		NA																	0					0						c.(2167-2169)AGC>AAC		Sec6 protein							41.0	53.0	49.0					5																	466943		2163	4259	6422	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:466943G>A	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.2168G>A	5.37:g.466943G>A	ENSP00000425587:p.Ser723Asn					uc003jbb.1_5'Flank	p.S723N	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	2296	+		Ovarian(839;0.0563)	734					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.2168G>A	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	G	0.877	-0.729985	0.03135	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.06687	3.27;3.27	5.49	-5.55	0.02536	.	0.417097	0.30428	N	0.009654	T	0.04588	0.0125	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35151	-0.9800	10	0.13853	T	0.58	-29.6739	16.5768	0.84704	0.3158:0.0:0.6842:0.0	.	734	O60645	EXOC3_HUMAN	N	723;723;618	ENSP00000425587:S723N;ENSP00000323377:S723N	ENSP00000323377:S723N	S	+	2	0	EXOC3	519943	0.000000	0.05858	0.003000	0.11579	0.385000	0.30292	-0.044000	0.12023	-0.967000	0.03582	0.305000	0.20034	AGC		0.662	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		4	17	0	0	0	0	4	17				
SEMA5A	9037	broad.mit.edu	37	5	9154604	9154604	+	Missense_Mutation	SNP	G	G	A	rs149803731		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:9154604G>A	ENST00000382496.5	-	12	2142	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	493					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCCTACCTGCGTGTGCGGTAG	0.617																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1477-1479)CGC>TGC		semaphorin 5A precursor		G	CYS/ARG	0,4406		0,0,2203	51.0	46.0	47.0		1477	5.5	1.0	5	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMA5A	NM_003966.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	493/1075	9154604	1,13005	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9154604G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1477C>T	5.37:g.9154604G>A	ENSP00000371936:p.Arg493Cys						p.R493C	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			12	2189	-			493			Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1477C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660940	0.67700	0.0	1.16E-4	ENSG00000112902	ENST00000382496	T	0.15017	2.46	5.47	5.47	0.80525	.	0.293295	0.36703	N	0.002451	T	0.14917	0.0360	N	0.02539	-0.55	0.47214	D	0.999355	D	0.69078	0.997	P	0.58820	0.846	T	0.32903	-0.9889	10	0.59425	D	0.04	.	12.5334	0.56128	0.0:0.1677:0.8322:0.0	.	493	Q13591	SEM5A_HUMAN	C	493	ENSP00000371936:R493C	ENSP00000371936:R493C	R	-	1	0	SEMA5A	9207604	0.994000	0.37717	0.952000	0.39060	0.484000	0.33280	2.597000	0.46214	2.584000	0.87258	0.591000	0.81541	CGC		0.617	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			19	39	0	0	0	0	19	39				
CTNND2	1501	broad.mit.edu	37	5	11346593	11346593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:11346593G>A	ENST00000304623.8	-	9	1708	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q170*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q74*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q416*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q507*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	507					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGACAATACTGCAGCTGTCGG	0.627																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1519-1521)CAG>TAG		catenin (cadherin-associated protein), delta 2							101.0	106.0	104.0					5																	11346593		2203	4300	6503	SO:0001587	stop_gained	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346593G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1519C>T	5.37:g.11346593G>A	ENSP00000307134:p.Gln507*					CTNND2_uc010itt.2_Nonsense_Mutation_p.Q416*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.Q170*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.Q74*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.Q74*	p.Q507*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1664	-			507					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	ENST00000304623.8	37	c.1519C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	41	8.641799	0.98897	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	.	.	.	5.8	5.8	0.92144	.	0.310059	0.31370	N	0.007769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-9.3722	20.1139	0.97919	0.0:0.0:1.0:0.0	.	.	.	.	X	507;507;416;74;170	.	ENSP00000307134:Q507X	Q	-	1	0	CTNND2	11399593	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.434000	0.97515	2.763000	0.94921	0.585000	0.79938	CAG		0.627	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		23	86	0	0	0	0	23	86				
DNAH5	1767	broad.mit.edu	37	5	13721172	13721172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:13721172A>T	ENST00000265104.4	-	71	12320	c.12216T>A	c.(12214-12216)taT>taA	p.Y4072*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4072	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATGGACACATAACGGGTTT	0.517									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12214-12216)TAT>TAA		dynein, axonemal, heavy chain 5							96.0	98.0	97.0					5																	13721172		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13721172A>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12216T>A	5.37:g.13721172A>T	ENSP00000265104:p.Tyr4072*					DNAH5_uc003jfc.2_Nonsense_Mutation_p.Y240*	p.Y4072*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			71	12258	-	Lung NSC(4;0.00476)		4072			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.12216T>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	53	21.404942	0.99940	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.18	1.5	0.22942	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8363	0.35115	0.7103:0.0:0.2897:0.0	.	.	.	.	X	4072	.	ENSP00000265104:Y4072X	Y	-	3	2	DNAH5	13774172	0.996000	0.38824	0.982000	0.44146	0.735000	0.41995	0.601000	0.24119	0.379000	0.24794	0.455000	0.32223	TAT		0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		25	62	0	0	0	0	25	62				
DNAH5	1767	broad.mit.edu	37	5	13845071	13845071	+	Silent	SNP	G	G	T	rs368644722		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:13845071G>T	ENST00000265104.4	-	32	5250	c.5146C>A	c.(5146-5148)Cgg>Agg	p.R1716R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1716	Stem. {ECO:0000250}.		R -> L (in CILD3). {ECO:0000269|PubMed:16627867}.		cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGAAAAACCGAGGAAAGCAC	0.443									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5146-5148)CGG>AGG		dynein, axonemal, heavy chain 5							69.0	71.0	70.0					5																	13845071		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13845071G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5146C>A	5.37:g.13845071G>T							p.R1716R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			32	5188	-	Lung NSC(4;0.00476)		1716		R -> L (in CILD3).	Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.5146C>A	CCDS3882.1																																																																																				0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		17	50	1	0	1.68e-08	2.08e-08	17	50				
PRDM9	56979	broad.mit.edu	37	5	23510090	23510090	+	Silent	SNP	G	G	T	rs559220696		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:23510090G>T	ENST00000296682.3	+	4	437	c.255G>T	c.(253-255)gtG>gtT	p.V85V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	85	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AACTCCAGGTGGATGACACAG	0.423										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(253-255)GTG>GTT		PR domain containing 9							78.0	78.0	78.0					5																	23510090		1874	4114	5988	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23510090G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.255G>T	5.37:g.23510090G>T		HNSCC(3;0.000094)					p.V85V	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			4	437	+			85			KRAB-related.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.255G>T	CCDS43307.1																																																																																				0.423	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		15	35	1	0	0.000566183	0.000612955	15	35				
CARD6	84674	broad.mit.edu	37	5	40853726	40853726	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:40853726G>A	ENST00000254691.5	+	3	2491	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	764					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGAGGCCTAAGTGGTTCCATC	0.488																																						uc003jmg.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(2290-2292)AAG>AAA		caspase recruitment domain family, member 6							90.0	102.0	98.0					5																	40853726		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853726G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2292G>A	5.37:g.40853726G>A							p.K764K	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	2367	+			764					Q52LR2	Silent	SNP	ENST00000254691.5	37	c.2292G>A	CCDS3935.1																																																																																				0.488	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			60	128	0	0	0	0	60	128				
ELOVL7	79993	broad.mit.edu	37	5	60067895	60067895	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:60067895G>A	ENST00000508821.1	-	4	404	c.90C>T	c.(88-90)ctC>ctT	p.L30L	ELOVL7_ENST00000505959.1_Silent_p.L17L|ELOVL7_ENST00000438340.1_Silent_p.L30L|ELOVL7_ENST00000425382.1_Silent_p.L30L	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	30					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GCGAGGACATGAGGAGCCAAT	0.438																																						uc003jsi.3		NA																	0					0						c.(88-90)CTC>CTT		elongation of very long chain fatty acids-like							49.0	46.0	47.0					5																	60067895		2203	4300	6503	SO:0001819	synonymous_variant	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60067895G>A	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.90C>T	5.37:g.60067895G>A						ELOVL7_uc011cqo.1_5'UTR|ELOVL7_uc010iwk.2_Silent_p.L30L|ELOVL7_uc003jsj.3_Silent_p.L17L	p.L30L	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN			4	290	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	30			Helical; (Potential).		Q589T3|Q9H5D0|Q9NT66	Silent	SNP	ENST00000508821.1	37	c.90C>T	CCDS34164.1																																																																																				0.438	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			6	24	0	0	0	0	6	24				
CHD1	1105	broad.mit.edu	37	5	98193970	98193970	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:98193970T>A	ENST00000284049.3	-	34	4850	c.4701A>T	c.(4699-4701)aaA>aaT	p.K1567N		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1567					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AATCACTTTTTTTGTAAGAAT	0.403																																						uc003knf.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(4699-4701)AAA>AAT		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						231.0	231.0	231.0					5																	98193970		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98193970T>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4701A>T	5.37:g.98193970T>A	ENSP00000284049:p.Lys1567Asn					CHD1_uc010jbn.2_Missense_Mutation_p.K293N	p.K1567N	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	34	4849	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1567					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4701A>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336174	0.24253	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.89681	-2.55	5.45	-1.56	0.08532	.	0.000000	0.34986	U	0.003527	T	0.76521	0.3999	N	0.19112	0.55	0.47862	D	0.999534	P	0.37781	0.608	B	0.35413	0.202	T	0.66626	-0.5876	10	0.24483	T	0.36	.	11.7848	0.52037	0.0:0.6198:0.0:0.3802	.	1567	O14646	CHD1_HUMAN	N	157;1567	ENSP00000284049:K1567N	ENSP00000284049:K1567N	K	-	3	2	CHD1	98221870	0.998000	0.40836	0.974000	0.42286	0.427000	0.31564	0.459000	0.21908	-0.100000	0.12241	-0.256000	0.11100	AAA		0.403	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		60	76	0	0	0	0	60	76				
DMXL1	1657	broad.mit.edu	37	5	118500343	118500343	+	Missense_Mutation	SNP	C	C	T	rs370189080		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:118500343C>T	ENST00000311085.8	+	20	4924	c.4844C>T	c.(4843-4845)aCc>aTc	p.T1615I	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1615I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1615										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTCCGGAATACCCGCATCTTA	0.403																																						uc003ksd.2		NA																	0				ovary(2)	2						c.(4843-4845)ACC>ATC		Dmx-like 1							133.0	138.0	136.0					5																	118500343		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118500343C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4844C>T	5.37:g.118500343C>T	ENSP00000309690:p.Thr1615Ile					DMXL1_uc010jcl.1_Missense_Mutation_p.T1615I	p.T1615I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	20	5025	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1615						Missense_Mutation	SNP	ENST00000311085.8	37	c.4844C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	3.002	-0.205726	0.06180	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.40476	1.03;1.03	5.59	1.64	0.23874	.	0.367114	0.33496	N	0.004854	T	0.17916	0.0430	N	0.04994	-0.135	0.23492	N	0.997563	B;B	0.06786	0.001;0.0	B;B	0.11329	0.004;0.006	T	0.18808	-1.0325	10	0.21540	T	0.41	-0.0296	6.7073	0.23258	0.3807:0.5028:0.0:0.1165	.	1615;1615	F5H269;Q9Y485	.;DMXL1_HUMAN	I	1615	ENSP00000309690:T1615I;ENSP00000439479:T1615I	ENSP00000309690:T1615I	T	+	2	0	DMXL1	118528242	0.309000	0.24518	0.566000	0.28421	0.796000	0.44982	0.528000	0.23002	0.253000	0.21552	-0.238000	0.12139	ACC		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		25	36	0	0	0	0	25	36				
PCDHB7	56129	broad.mit.edu	37	5	140554405	140554405	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:140554405G>T	ENST00000231137.3	+	1	2163	c.1989G>T	c.(1987-1989)gtG>gtT	p.V663V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	663	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGGTGGACGGCTTCT	0.697																																						uc003lit.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1987-1989)GTG>GTT		protocadherin beta 7 precursor							40.0	62.0	55.0					5																	140554405		2179	4275	6454	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554405G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1989G>T	5.37:g.140554405G>T							p.V663V	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2163	+			663			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1989G>T	CCDS4249.1																																																																																				0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		13	45	1	0	9.17e-09	1.14e-08	13	45				
PCDHGA2	56113	broad.mit.edu	37	5	140719024	140719024	+	Silent	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:140719024A>T	ENST00000394576.2	+	1	486	c.486A>T	c.(484-486)gtA>gtT	p.V162V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	162	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)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGACGTAGGTGAGAACG	0.522																																						uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(484-486)GTA>GTT		protocadherin gamma subfamily A, 2 isoform 1							89.0	86.0	87.0					5																	140719024		2203	4300	6503	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719024A>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.486A>T	5.37:g.140719024A>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.V162V	p.V162V	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	671	+			162			Extracellular (Potential).|Cadherin 2.		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.486A>T	CCDS47289.1																																																																																				0.522	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		30	33	0	0	0	0	30	33				
TCERG1	10915	broad.mit.edu	37	5	145850238	145850238	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:145850238C>T	ENST00000296702.5	+	8	1477	c.1439C>T	c.(1438-1440)cCc>cTc	p.P480L	TCERG1_ENST00000394421.2_Missense_Mutation_p.P459L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	480	Glu-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTAAAGAACCCTCTGAAGAG	0.388																																						uc003lob.2		NA																	0				ovary(1)|skin(1)	2						c.(1438-1440)CCC>CTC		transcription elongation regulator 1 isoform 1							68.0	71.0	70.0					5																	145850238		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145850238C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1439C>T	5.37:g.145850238C>T	ENSP00000296702:p.Pro480Leu					TCERG1_uc003loc.2_Missense_Mutation_p.P459L|TCERG1_uc011dbt.1_Missense_Mutation_p.P459L	p.P480L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1479	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	480			Glu-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1439C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018336	0.54576	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35605	1.3;1.3	5.52	5.52	0.82312	.	0.527085	0.20598	N	0.089204	T	0.25644	0.0624	N	0.08118	0	0.58432	D	0.999996	B;P;P	0.46784	0.084;0.884;0.816	B;B;B	0.42282	0.021;0.382;0.212	T	0.08576	-1.0715	10	0.34782	T	0.22	-5.8166	19.7984	0.96495	0.0:1.0:0.0:0.0	.	459;459;480	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	L	480;459	ENSP00000296702:P480L;ENSP00000377943:P459L	ENSP00000296702:P480L	P	+	2	0	TCERG1	145830431	0.985000	0.35326	1.000000	0.80357	0.985000	0.73830	2.687000	0.46976	2.753000	0.94483	0.467000	0.42956	CCC		0.388	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		13	24	0	0	0	0	13	24				
PDGFRB	5159	broad.mit.edu	37	5	149497184	149497184	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:149497184G>T	ENST00000261799.4	-	22	3603	c.3134C>A	c.(3133-3135)gCc>gAc	p.A1045D		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1045					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTTACCTGGCTAGGCTGGG	0.632			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(3133-3135)GCC>GAC		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						46.0	46.0	46.0					5																	149497184		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149497184G>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3134C>A	5.37:g.149497184G>T	ENSP00000261799:p.Ala1045Asp					PDGFRB_uc010jhd.2_Missense_Mutation_p.A884D	p.A1045D	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3603	-		all_hematologic(541;0.224)	1045			Cytoplasmic (Potential).		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.3134C>A	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887210	0.72410	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.76186	-1.0	5.26	5.26	0.73747	.	0.000000	0.47852	D	0.000218	T	0.79787	0.4506	L	0.38175	1.15	0.37965	D	0.933083	D;D	0.71674	0.998;0.997	P;P	0.61722	0.893;0.879	T	0.81953	-0.0697	10	0.48119	T	0.1	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	1045;1045	A8KAM8;P09619	.;PGFRB_HUMAN	D	1045;715	ENSP00000261799:A1045D	ENSP00000261799:A1045D	A	-	2	0	PDGFRB	149477377	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.199000	0.65152	2.465000	0.83290	0.655000	0.94253	GCC		0.632	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		21	20	1	0	2.22e-12	2.96e-12	21	20				
ARSI	340075	broad.mit.edu	37	5	149677228	149677228	+	Missense_Mutation	SNP	C	C	T	rs147847092		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:149677228C>T	ENST00000328668.7	-	2	1838	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	420					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACCCACGCGGATGGCAGC	0.622																																						uc003lrv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1258-1260)CGC>CAC		arylsulfatase family, member I precursor		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	34.0	38.0	36.0		1259	4.4	1.0	5	dbSNP_134	36	0,8600		0,0,4300	no	missense	ARSI	NM_001012301.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	420/570	149677228	1,13005	2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677228C>T	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1259G>A	5.37:g.149677228C>T	ENSP00000333395:p.Arg420His						p.R420H	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1848	-			420					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1259G>A	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429560	0.83776	2.27E-4	0.0	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.94046	-3.34;-3.34	4.45	4.45	0.53987	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97639	0.9226	H	0.94542	3.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.72032	D	0.01	.	17.2703	0.87099	0.0:1.0:0.0:0.0	.	420	Q5FYB1	ARSI_HUMAN	H	420;277	ENSP00000333395:R420H;ENSP00000426879:R277H	ENSP00000333395:R420H	R	-	2	0	ARSI	149657421	0.987000	0.35691	0.994000	0.49952	0.959000	0.62525	7.651000	0.83577	2.296000	0.77279	0.561000	0.74099	CGC		0.622	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		15	45	0	0	0	0	15	45				
IL17F	112744	broad.mit.edu	37	6	52101905	52101905	+	Missense_Mutation	SNP	C	C	A	rs146083682		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:52101905C>A	ENST00000336123.4	-	3	423	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	106					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTGATGCAGCCCAAGTTCCTA	0.557																																						uc003pam.1		NA																	0				ovary(1)	1						c.(316-318)GGC>TGC		interleukin 17F precursor							77.0	71.0	73.0					6																	52101905		2203	4300	6503	SO:0001583	missense	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52101905C>A	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.316G>T	6.37:g.52101905C>A	ENSP00000337432:p.Gly106Cys					IL17F_uc003pal.1_Missense_Mutation_p.G52C	p.G106C	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN			3	387	-	Lung NSC(77;0.116)		106					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	c.316G>T	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790626	0.31685	.	.	ENSG00000112116	ENST00000336123	T	0.63744	-0.06	5.66	2.81	0.32909	.	0.467249	0.23554	N	0.046936	T	0.69726	0.3143	M	0.90705	3.14	0.24510	N	0.994211	D	0.89917	1.0	D	0.87578	0.998	T	0.62501	-0.6841	10	0.72032	D	0.01	-23.0075	5.1304	0.14907	0.0:0.5881:0.1489:0.263	.	106	Q96PD4	IL17F_HUMAN	C	106	ENSP00000337432:G106C	ENSP00000337432:G106C	G	-	1	0	IL17F	52209864	0.018000	0.18449	0.634000	0.29324	0.076000	0.17211	0.100000	0.15231	0.708000	0.31955	0.655000	0.94253	GGC		0.557	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		8	18	1	0	0.000274275	0.000297796	8	18				
IMPG1	3617	broad.mit.edu	37	6	76660760	76660760	+	Missense_Mutation	SNP	G	G	A	rs375185954		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:76660760G>A	ENST00000369950.3	-	13	1532	c.1343C>T	c.(1342-1344)cCa>cTa	p.P448L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGAAAGGTGGAGCTTCTGA	0.473																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	0				ovary(2)|skin(1)	3						c.(1342-1344)CCA>CTA		interphotoreceptor matrix proteoglycan 1		A	LEU/PRO	0,4406		0,0,2203	119.0	118.0	118.0		1343	-7.9	0.0	6		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	IMPG1	NM_001563.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	448/798	76660760	1,13005	2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660760G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1343C>T	6.37:g.76660760G>A	ENSP00000358966:p.Pro448Leu						p.P448L	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			13	1473	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	448						Missense_Mutation	SNP	ENST00000369950.3	37	c.1343C>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	g	2.977	-0.211228	0.06140	0.0	1.16E-4	ENSG00000112706	ENST00000369950	T	0.15834	2.39	5.54	-7.88	0.01178	.	0.599742	0.14780	N	0.298865	T	0.00524	0.0017	N	0.00159	-1.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43343	-0.9397	10	0.20519	T	0.43	.	1.439	0.02350	0.4434:0.1022:0.2551:0.1993	.	448	Q17R60	IMPG1_HUMAN	L	448	ENSP00000358966:P448L	ENSP00000358966:P448L	P	-	2	0	IMPG1	76717480	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-1.864000	0.01148	-2.300000	0.00261	CCA		0.473	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		14	49	0	0	0	0	14	49				
C6orf165	154313	broad.mit.edu	37	6	88125575	88125575	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:88125575C>G	ENST00000507897.1	+	5	538	c.455C>G	c.(454-456)aCt>aGt	p.T152S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T152S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	152										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GACATCAAGACTGTCAGAGAG	0.363																																						uc003plv.2		NA																	0				central_nervous_system(1)	1						c.(454-456)ACT>AGT		hypothetical protein LOC154313 isoform 1							84.0	84.0	84.0					6																	88125575		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88125575C>G	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.455C>G	6.37:g.88125575C>G	ENSP00000426769:p.Thr152Ser					C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.T152S	p.T152S	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	5	547	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	152					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.455C>G	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791636	0.31685	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.21543	2.0;2.0	5.6	1.92	0.25849	.	0.690196	0.14706	N	0.303270	T	0.03959	0.0111	N	0.14661	0.345	0.23076	N	0.99833	B;B	0.18166	0.026;0.015	B;B	0.12837	0.008;0.005	T	0.40021	-0.9585	10	0.49607	T	0.09	.	8.8222	0.35032	0.0:0.2243:0.0:0.7757	.	152;152	Q8IYR0;E1P509	CF165_HUMAN;.	S	152	ENSP00000358575:T152S;ENSP00000422494:T152S	ENSP00000358575:T152S	T	+	2	0	C6orf165	88182294	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	1.379000	0.34340	0.094000	0.17404	-0.482000	0.04802	ACT		0.363	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		7	53	0	0	0	0	7	53				
ANKRD6	22881	broad.mit.edu	37	6	90340371	90340371	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:90340371G>T	ENST00000522441.1	+	16	2473	c.1832G>T	c.(1831-1833)gGg>gTg	p.G611V	LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000339746.4_Missense_Mutation_p.G611V|ANKRD6_ENST00000520793.1_Missense_Mutation_p.G547V|ANKRD6_ENST00000369408.5_Missense_Mutation_p.G576V|ANKRD6_ENST00000447838.2_Missense_Mutation_p.G606V	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	611					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAGCAGGCTGGGCCCTGCGTC	0.582																																						uc003pni.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1831-1833)GGG>GTG		ankyrin repeat domain 6							25.0	28.0	27.0					6																	90340371		2055	4199	6254	SO:0001583	missense	22881						protein binding	g.chr6:90340371G>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1832G>T	6.37:g.90340371G>T	ENSP00000430985:p.Gly611Val					ANKRD6_uc003pne.3_Missense_Mutation_p.G606V|ANKRD6_uc003pnf.3_Missense_Mutation_p.G576V|ANKRD6_uc011dzy.1_Missense_Mutation_p.G611V|ANKRD6_uc010kcd.2_Missense_Mutation_p.G547V|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Missense_Mutation_p.G207V|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Missense_Mutation_p.G207V	p.G611V	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	16	2173	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	611					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1832G>T	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991595	0.35131	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000520793	T;T;T;T;T	0.68479	1.17;1.17;1.16;1.17;-0.33	5.01	5.01	0.66863	.	0.104649	0.42682	D	0.000670	T	0.56499	0.1989	L	0.44542	1.39	0.80722	D	1	D;B;P;P	0.55605	0.972;0.329;0.673;0.722	P;B;B;B	0.48304	0.573;0.051;0.159;0.071	T	0.62469	-0.6848	10	0.62326	D	0.03	-26.2992	13.7977	0.63182	0.0:0.0:0.8469:0.1531	.	547;611;576;606	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	V	576;611;606;611;547	ENSP00000358416:G576V;ENSP00000345767:G611V;ENSP00000396771:G606V;ENSP00000430985:G611V;ENSP00000429782:G547V	ENSP00000345767:G611V	G	+	2	0	ANKRD6	90397092	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.862000	0.56009	2.763000	0.94921	0.563000	0.77884	GGG		0.582	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			6	10	1	0	0.00116845	0.00124512	6	10				
GPR63	81491	broad.mit.edu	37	6	97246721	97246721	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:97246721A>T	ENST00000229955.3	-	2	1232	c.887T>A	c.(886-888)cTg>cAg	p.L296Q	GPR63_ENST00000417980.1_Missense_Mutation_p.L296Q	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGGTCTCTGCAGACTCATGAG	0.498																																						uc010kcl.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(886-888)CTG>CAG		G protein-coupled receptor 63							94.0	86.0	89.0					6																	97246721		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246721A>T	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.887T>A	6.37:g.97246721A>T	ENSP00000229955:p.Leu296Gln					GPR63_uc003pou.2_Missense_Mutation_p.L296Q	p.L296Q	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1365	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	296			Cytoplasmic (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.887T>A	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.376084	0.61735	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.61859	0.07;0.07;0.07	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.66157	0.2761	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.65726	-0.6098	10	0.14656	T	0.56	-4.6004	15.3582	0.74443	1.0:0.0:0.0:0.0	.	296	Q9BZJ6	GPR63_HUMAN	Q	320;296;296;296	ENSP00000393170:L296Q;ENSP00000229955:L296Q;ENSP00000358273:L296Q	ENSP00000229955:L296Q	L	-	2	0	GPR63	97353442	1.000000	0.71417	0.913000	0.36048	0.835000	0.47333	8.910000	0.92685	2.097000	0.63578	0.528000	0.53228	CTG		0.498	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			18	56	0	0	0	0	18	56				
ZBTB24	9841	broad.mit.edu	37	6	109802666	109802666	+	Silent	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:109802666C>G	ENST00000230122.3	-	2	731	c.564G>C	c.(562-564)gtG>gtC	p.V188V		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	188					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTGAATTGTTCACTCTTAACT	0.413																																						uc003ptl.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(562-564)GTG>GTC		zinc finger and BTB domain containing 24 isoform							180.0	184.0	183.0					6																	109802666		2203	4300	6503	SO:0001819	synonymous_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802666C>G	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.564G>C	6.37:g.109802666C>G						ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.V188V|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Silent_p.V188V	p.V188V	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	732	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	188					Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	c.564G>C	CCDS34509.1																																																																																				0.413	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		65	187	0	0	0	0	65	187				
TUBE1	51175	broad.mit.edu	37	6	112397183	112397183	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:112397183C>G	ENST00000368662.5	-	8	847	c.769G>C	c.(769-771)Gca>Cca	p.A257P	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	257					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	TTATTCATTGCATCAAAGGGC	0.383																																						uc003pvq.2		NA																	0				ovary(1)	1						c.(769-771)GCA>CCA		tubulin, epsilon 1							131.0	140.0	137.0					6																	112397183		2203	4300	6503	SO:0001583	missense	51175				centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton	g.chr6:112397183C>G	AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.769G>C	6.37:g.112397183C>G	ENSP00000357651:p.Ala257Pro					TUBE1_uc003pvr.2_Missense_Mutation_p.A182P	p.A257P	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	8	883	-		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)	257					Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	c.769G>C	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518418	0.44763	.	.	ENSG00000074935	ENST00000368662	T	0.68181	-0.31	5.7	3.69	0.42338	Tubulin/FtsZ, GTPase domain (3);	0.205856	0.50627	D	0.000120	T	0.45538	0.1347	L	0.46157	1.445	0.80722	D	1	B	0.23185	0.081	B	0.23716	0.048	T	0.56032	-0.8046	10	0.87932	D	0	.	11.6057	0.51031	0.0:0.8109:0.0:0.1891	.	257	Q9UJT0	TBE_HUMAN	P	257	ENSP00000357651:A257P	ENSP00000357651:A257P	A	-	1	0	TUBE1	112503876	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.136000	0.50554	1.409000	0.46915	0.650000	0.86243	GCA		0.383	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262		59	89	0	0	0	0	59	89				
RFX6	222546	broad.mit.edu	37	6	117248568	117248568	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:117248568C>T	ENST00000332958.2	+	17	2280	c.2264C>T	c.(2263-2265)tCt>tTt	p.S755F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	755					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGGCCACCGTCTAGCTATGGC	0.517																																						uc003pxm.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2263-2265)TCT>TTT		regulatory factor X, 6							57.0	54.0	55.0					6																	117248568		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117248568C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2264C>T	6.37:g.117248568C>T	ENSP00000332208:p.Ser755Phe						p.S755F	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			17	2327	+			755					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.2264C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093342	0.76756	.	.	ENSG00000185002	ENST00000332958	T	0.57595	0.39	5.3	5.3	0.74995	.	0.060393	0.64402	D	0.000002	T	0.62877	0.2464	L	0.60455	1.87	0.54753	D	0.999988	D	0.69078	0.997	P	0.62014	0.897	T	0.65187	-0.6229	10	0.87932	D	0	-17.4137	19.1556	0.93509	0.0:1.0:0.0:0.0	.	755	Q8HWS3	RFX6_HUMAN	F	755	ENSP00000332208:S755F	ENSP00000332208:S755F	S	+	2	0	RFX6	117355261	1.000000	0.71417	0.969000	0.41365	0.840000	0.47671	6.322000	0.72886	2.758000	0.94735	0.655000	0.94253	TCT		0.517	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		14	36	0	0	0	0	14	36				
EYA4	2070	broad.mit.edu	37	6	133846378	133846378	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:133846378C>A	ENST00000367895.5	+	19	2289	c.1825C>A	c.(1825-1827)Cag>Aag	p.Q609K	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.Q615K|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000355167.3_Intron|EYA4_ENST00000431403.2_Intron|EYA4_ENST00000355286.6_Missense_Mutation_p.Q586K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	609					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGAAGAAGAACAGGCAGCAAA	0.393																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	0				large_intestine(2)	2						c.(1825-1827)CAG>AAG		eyes absent 4 isoform a							137.0	124.0	129.0					6																	133846378		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133846378C>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1825C>A	6.37:g.133846378C>A	ENSP00000356870:p.Gln609Lys					EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Intron|EYA4_uc003qee.3_Missense_Mutation_p.Q586K|EYA4_uc011ecs.1_Missense_Mutation_p.Q615K|uc003qeg.1_Intron	p.Q609K	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	19	2283	+	Colorectal(23;0.221)		609					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1825C>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181045	0.38511	.	.	ENSG00000112319	ENST00000367895;ENST00000355286;ENST00000531901	D;D;D	0.88586	-2.4;-2.4;-2.4	5.5	5.5	0.81552	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.100972	0.64402	D	0.000001	T	0.79656	0.4483	L	0.60455	1.87	0.80722	D	1	B;B;B	0.26400	0.004;0.148;0.125	B;B;B	0.21546	0.014;0.031;0.035	T	0.78715	-0.2096	10	0.06494	T	0.89	-2.9265	19.7739	0.96383	0.0:1.0:0.0:0.0	.	615;586;609	F2Z2Y1;O95677-2;O95677	.;.;EYA4_HUMAN	K	609;586;615	ENSP00000356870:Q609K;ENSP00000347434:Q586K;ENSP00000432770:Q615K	ENSP00000347434:Q586K	Q	+	1	0	EYA4	133888071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.744000	0.94065	0.655000	0.94253	CAG		0.393	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		18	34	1	0	4.35e-09	5.48e-09	18	34				
SASH1	23328	broad.mit.edu	37	6	148869664	148869664	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:148869664C>T	ENST00000367467.3	+	20	4189	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1238	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCAGACTCTTCAAACTGCCGC	0.557																																						uc003qme.1		NA																	0				central_nervous_system(1)	1						c.(3712-3714)TTC>TTT		SAM and SH3 domain containing 1							57.0	64.0	62.0					6																	148869664		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148869664C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3714C>T	6.37:g.148869664C>T						SASH1_uc003qmf.1_Silent_p.F648F	p.F1238F	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	20	4189	+		Ovarian(120;0.0169)	1238			SAM 2.		Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.3714C>T	CCDS5212.1																																																																																				0.557	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		26	79	0	0	0	0	26	79				
SYNE1	23345	broad.mit.edu	37	6	152658020	152658020	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:152658020C>T	ENST00000367255.5	-	76	13085	c.12484G>A	c.(12484-12486)Gag>Aag	p.E4162K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E4027K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4162K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4091K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4091K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4162					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCCAGCTCAGAGTGCCTC	0.473										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12484-12486)GAG>AAG		spectrin repeat containing, nuclear envelope 1							125.0	118.0	120.0					6																	152658020		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152658020C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12484G>A	6.37:g.152658020C>T	ENSP00000356224:p.Glu4162Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E4091K|SYNE1_uc003qou.3_Missense_Mutation_p.E4162K|SYNE1_uc010kja.1_Missense_Mutation_p.E867K|SYNE1_uc010kiz.2_5'Flank	p.E4162K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	76	13086	-		Ovarian(120;0.0955)	4162			Spectrin 11.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12484G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754522	0.69648	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.57436	0.49;0.44;0.4;0.44;0.73	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000013	T	0.67458	0.2895	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.997;0.999	T	0.66586	-0.5886	10	0.44086	T	0.13	.	19.0665	0.93113	0.0:1.0:0.0:0.0	.	4162;4162;4162;4091	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4162;4091;4162;4091;4027	ENSP00000356224:E4162K;ENSP00000396024:E4091K;ENSP00000265368:E4162K;ENSP00000390975:E4091K;ENSP00000341887:E4027K	ENSP00000265368:E4162K	E	-	1	0	SYNE1	152699713	1.000000	0.71417	0.657000	0.29651	0.408000	0.30992	7.815000	0.86186	2.513000	0.84729	0.655000	0.94253	GAG		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		22	104	0	0	0	0	22	104				
SLC22A1	6580	broad.mit.edu	37	6	160543205	160543205	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:160543205G>T	ENST00000366963.4	+	1	385	c.238G>T	c.(238-240)Gcg>Tcg	p.A80S	SLC22A1_ENST00000324965.4_Missense_Mutation_p.A80S|SLC22A1_ENST00000457470.2_Missense_Mutation_p.A80S	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	80					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CCTGGGGCCCGCGGGCGAGGC	0.662																																						uc003qtc.2		NA																	0					0						c.(238-240)GCG>TCG		solute carrier family 22 member 1 isoform a							40.0	48.0	45.0					6																	160543205		2203	4300	6503	SO:0001583	missense	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160543205G>T	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.238G>T	6.37:g.160543205G>T	ENSP00000355930:p.Ala80Ser					SLC22A1_uc003qtd.2_Missense_Mutation_p.A80S	p.A80S	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	1	343	+		Breast(66;0.000776)|Ovarian(120;0.00556)	80			Extracellular (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	37	c.238G>T	CCDS5274.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.960532	0.00465	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.73575	-0.59;-0.76;-0.75	5.5	-1.39	0.08997	.	1.141820	0.06304	N	0.701367	T	0.22044	0.0531	N	0.12611	0.24	0.09310	N	1	B;B	0.12013	0.001;0.005	B;B	0.15052	0.007;0.012	T	0.04427	-1.0952	10	0.08179	T	0.78	.	1.5551	0.02583	0.2171:0.2572:0.3491:0.1767	.	80;80	O15245-2;O15245	.;S22A1_HUMAN	S	80	ENSP00000355930:A80S;ENSP00000318103:A80S;ENSP00000409557:A80S	ENSP00000318103:A80S	A	+	1	0	SLC22A1	160463195	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.088000	0.11198	-0.534000	0.06315	-1.367000	0.01198	GCG		0.662	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			24	83	1	0	2.22e-12	2.96e-12	24	83				
PARK2	5071	broad.mit.edu	37	6	162683677	162683677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:162683677C>A	ENST00000366898.1	-	3	394	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Nonsense_Mutation_p.E98*|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366892.1_Nonsense_Mutation_p.E98*	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	98					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCTGGGGCTCCCGCTCACAG	0.587																																						uc003qtx.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(292-294)GAG>TAG		parkin isoform 1							75.0	75.0	75.0					6																	162683677		2203	4300	6503	SO:0001587	stop_gained	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162683677C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.292G>T	6.37:g.162683677C>A	ENSP00000355865:p.Glu98*					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Nonsense_Mutation_p.E98*|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Nonsense_Mutation_p.E98*	p.E98*	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	3	426	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	98					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Nonsense_Mutation	SNP	ENST00000366898.1	37	c.292G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	36	5.744676	0.96882	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895;ENST00000542682	.	.	.	5.05	5.05	0.67936	.	0.406771	0.24318	N	0.039566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	13.9285	0.63978	0.0:1.0:0.0:0.0	.	.	.	.	X	98;98;98;19;97	.	ENSP00000355858:E98X	E	-	1	0	PARK2	162603667	0.798000	0.28890	0.203000	0.23512	0.591000	0.36615	4.030000	0.57260	2.352000	0.79861	0.561000	0.74099	GAG		0.587	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			17	45	1	0	0.00074312	0.000795288	17	45				
PARK2	5071	broad.mit.edu	37	6	162683729	162683729	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:162683729C>A	ENST00000366898.1	-	3	342	c.240G>T	c.(238-240)atG>atT	p.M80I	PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.M80I|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366892.1_Missense_Mutation_p.M80I	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	80					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGTTGCATTCATTTCTTGAC	0.527																																						uc003qtx.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(238-240)ATG>ATT		parkin isoform 1							103.0	98.0	99.0					6																	162683729		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162683729C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.240G>T	6.37:g.162683729C>A	ENSP00000355865:p.Met80Ile					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Missense_Mutation_p.M80I|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.M80I	p.M80I	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	3	374	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	80					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.240G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242549	0.22796	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895;ENST00000542682	D;D;D	0.91577	-2.74;-2.87;-2.79	3.99	-4.02	0.04034	.	1.672570	0.03292	N	0.187753	T	0.59636	0.2208	N	0.08118	0	0.09310	N	1	B;B;B	0.23591	0.088;0.007;0.015	B;B;B	0.20767	0.031;0.001;0.001	T	0.60885	-0.7174	10	0.27082	T	0.32	.	6.3404	0.21319	0.0:0.2746:0.4439:0.2816	.	80;80;80	O60260-5;Q5VVX4;O60260	.;.;PRKN2_HUMAN	I	80;80;80;1;79	ENSP00000355865:M80I;ENSP00000355863:M80I;ENSP00000355858:M80I	ENSP00000355858:M80I	M	-	3	0	PARK2	162603719	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.249000	0.18216	-1.415000	0.02022	-1.259000	0.01468	ATG		0.527	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			12	39	1	0	4.37e-10	5.64e-10	12	39				
MLLT4	4301	broad.mit.edu	37	6	168347424	168347424	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:168347424G>C	ENST00000447894.2	+	26	3375	c.3375G>C	c.(3373-3375)aaG>aaC	p.K1125N	MLLT4_ENST00000351017.4_Missense_Mutation_p.K1132N|MLLT4_ENST00000366806.2_Missense_Mutation_p.K1125N|MLLT4_ENST00000392112.1_Missense_Mutation_p.K1108N|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1124N|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1125N|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392108.3_Missense_Mutation_p.K1125N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1125					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.S1126_E1130delSEGFE(1)|p.S1110_E1114delSEGFE(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCCGACCAAAGAGTGAAGGCT	0.403			T	MLL	AL																																	uc003qwd.2		NA		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Deletion - In frame(2)		breast(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(3370-3372)AAG>AAC		myeloid/lymphoid or mixed-lineage leukemia							84.0	96.0	92.0					6																	168347424		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168347424G>C	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3375G>C	6.37:g.168347424G>C	ENSP00000404595:p.Lys1125Asn					MLLT4_uc003qwb.1_Missense_Mutation_p.K1109N|MLLT4_uc003qwc.1_Missense_Mutation_p.K1125N|MLLT4_uc003qwg.1_Missense_Mutation_p.K434N	p.K1124N	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	26	3514	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1125					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.3372G>C		.	.	.	.	.	.	.	.	.	.	G	23.7	4.446418	0.84101	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.05025	3.72;3.62;3.72;3.71;3.51;3.62;3.62	5.25	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	M	0.72479	2.2	0.80722	D	1	P;D;P;P	0.76494	0.708;0.999;0.813;0.895	B;D;P;P	0.66196	0.345;0.942;0.45;0.533	T	0.00986	-1.1490	10	0.54805	T	0.06	0.6738	14.1984	0.65686	0.0726:0.0:0.9274:0.0	.	1125;1124;1125;1109	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	N	1125;1132;1125;1125;1108;1125;1124;1125	ENSP00000341118:K1125N;ENSP00000252692:K1132N;ENSP00000375956:K1125N;ENSP00000355771:K1125N;ENSP00000375960:K1108N;ENSP00000383623:K1124N;ENSP00000404595:K1125N	ENSP00000345834:K1125N	K	+	3	2	MLLT4	168090273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.241000	0.78201	1.344000	0.45657	0.655000	0.94253	AAG		0.403	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		26	52	0	0	0	0	26	52				
THSD7A	221981	broad.mit.edu	37	7	11676343	11676343	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:11676343A>T	ENST00000423059.4	-	2	687	c.436T>A	c.(436-438)Tgc>Agc	p.C146S	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	146					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTTAATGCACTCAAGAGGT	0.473										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(436-438)TGC>AGC		thrombospondin, type I, domain containing 7A							100.0	97.0	98.0					7																	11676343		1970	4167	6137	SO:0001583	missense	221981					integral to membrane		g.chr7:11676343A>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.436T>A	7.37:g.11676343A>T	ENSP00000406482:p.Cys146Ser	HNSCC(18;0.044)					p.C146S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	688	-			146			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.436T>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.014905	0.54468	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.74842	-0.88	5.57	5.57	0.84162	.	0.000000	0.85682	U	0.000000	D	0.86694	0.5994	M	0.86097	2.795	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.85392	0.1126	10	0.23891	T	0.37	.	16.0394	0.80651	1.0:0.0:0.0:0.0	.	146	Q9UPZ6	THS7A_HUMAN	S	146	ENSP00000406482:C146S	ENSP00000262042:C146S	C	-	1	0	THSD7A	11642868	1.000000	0.71417	0.703000	0.30354	0.237000	0.25408	7.526000	0.81920	2.236000	0.73375	0.528000	0.53228	TGC		0.473	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		15	44	0	0	0	0	15	44				
HDAC9	9734	broad.mit.edu	37	7	18687533	18687533	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:18687533G>C	ENST00000432645.2	+	9	1152	c.1152G>C	c.(1150-1152)gaG>gaC	p.E384D	HDAC9_ENST00000417496.2_Missense_Mutation_p.E382D|HDAC9_ENST00000406072.1_Missense_Mutation_p.E371D|HDAC9_ENST00000441542.2_Missense_Mutation_p.E387D|HDAC9_ENST00000524023.1_Missense_Mutation_p.E307D|HDAC9_ENST00000405010.3_Missense_Mutation_p.E384D|HDAC9_ENST00000428307.2_Missense_Mutation_p.E340D|HDAC9_ENST00000401921.1_Missense_Mutation_p.E343D|HDAC9_ENST00000456174.2_Missense_Mutation_p.E356D|HDAC9_ENST00000406451.4_Missense_Mutation_p.E384D	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	384					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTACTTTAGAGGGAAAGCCAC	0.498																																						uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1150-1152)GAG>GAC		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						40.0	41.0	41.0					7																	18687533		2043	4201	6244	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18687533G>C	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1152G>C	7.37:g.18687533G>C	ENSP00000410337:p.Glu384Asp					HDAC9_uc003sue.2_Missense_Mutation_p.E384D|HDAC9_uc011jyd.1_Missense_Mutation_p.E384D|HDAC9_uc003sui.2_Missense_Mutation_p.E387D|HDAC9_uc003suj.2_Missense_Mutation_p.E343D|HDAC9_uc011jya.1_Missense_Mutation_p.E381D|HDAC9_uc003sua.1_Missense_Mutation_p.E362D|HDAC9_uc011jyb.1_Missense_Mutation_p.E340D|HDAC9_uc003sud.1_Missense_Mutation_p.E384D|HDAC9_uc011jyc.1_Missense_Mutation_p.E343D|HDAC9_uc003suf.1_Missense_Mutation_p.E415D|HDAC9_uc010kud.1_Missense_Mutation_p.E387D|HDAC9_uc011jye.1_Missense_Mutation_p.E356D|HDAC9_uc011jyf.1_Missense_Mutation_p.E307D|HDAC9_uc010kue.1_Missense_Mutation_p.E127D	p.E384D	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			9	1193	+	all_lung(11;0.187)		384					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1152G>C	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560742	0.45590	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.60920	0.63;0.7;0.18;0.64;0.63;0.15;0.17;0.17;0.68;0.65	5.64	2.37	0.29283	.	0.115496	0.39475	N	0.001354	T	0.63283	0.2498	L	0.41236	1.265	0.41687	D	0.989328	D;D;D;P;D;D;D;D;D;D;D;D;D;D	0.76494	0.984;0.999;0.99;0.803;0.984;0.974;0.994;0.974;0.996;0.995;0.994;0.996;0.999;0.994	D;P;D;P;D;D;D;D;D;P;D;D;P;D	0.76071	0.935;0.754;0.98;0.523;0.935;0.969;0.97;0.969;0.987;0.809;0.97;0.987;0.875;0.97	T	0.61113	-0.7128	10	0.45353	T	0.12	-22.3767	9.4616	0.38787	0.408:0.0:0.592:0.0	.	307;356;384;371;382;384;387;343;387;384;356;384;384;362	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	D	382;385;384;384;340;371;343;384;387;356;307;384	ENSP00000401669:E382D;ENSP00000384382:E384D;ENSP00000384657:E384D;ENSP00000395655:E340D;ENSP00000384017:E371D;ENSP00000383912:E343D;ENSP00000410337:E384D;ENSP00000408617:E387D;ENSP00000388568:E356D;ENSP00000430036:E307D	ENSP00000262069:E385D	E	+	3	2	HDAC9	18654058	1.000000	0.71417	0.998000	0.56505	0.558000	0.35554	0.879000	0.28146	0.727000	0.32360	0.585000	0.79938	GAG		0.498	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			6	7	0	0	0	0	6	7				
BBS9	27241	broad.mit.edu	37	7	33217197	33217197	+	Missense_Mutation	SNP	G	G	T	rs372412756		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:33217197G>T	ENST00000242067.6	+	5	957	c.436G>T	c.(436-438)Gta>Tta	p.V146L	BBS9_ENST00000354265.4_Missense_Mutation_p.V146L|BBS9_ENST00000425508.2_Missense_Mutation_p.V101L|BBS9_ENST00000355070.2_Missense_Mutation_p.V146L|BBS9_ENST00000350941.3_Missense_Mutation_p.V146L|RNA5SP229_ENST00000410809.1_RNA|BBS9_ENST00000396127.2_Missense_Mutation_p.V146L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	146					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATTTGGTGGTGTAAAAGGTAA	0.353									Bardet-Biedl syndrome																													uc003tdn.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(436-438)GTA>TTA		parathyroid hormone-responsive B1 isoform 2							153.0	143.0	146.0					7																	33217197		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33217197G>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.436G>T	7.37:g.33217197G>T	ENSP00000242067:p.Val146Leu					BBS9_uc003tdo.1_Missense_Mutation_p.V146L|BBS9_uc003tdp.1_Missense_Mutation_p.V146L|BBS9_uc003tdq.1_Missense_Mutation_p.V146L|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.V146L|BBS9_uc011kao.1_Missense_Mutation_p.V24L	p.V146L	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		5	949	+			146					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.436G>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930285	0.52866	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.61	4.72	0.59763	.	0.059514	0.64402	D	0.000003	D	0.82486	0.5047	M	0.78456	2.415	0.42510	D	0.992963	P;B;B;B;B	0.51351	0.944;0.234;0.056;0.234;0.063	B;B;B;B;B	0.40825	0.341;0.2;0.156;0.2;0.129	T	0.81106	-0.1083	10	0.31617	T	0.26	-10.1136	14.8717	0.70462	0.1305:0.0:0.8695:0.0	.	146;146;146;146;146	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	L	146;146;146;146;146;146;146;101;24;24	ENSP00000242067:V146L;ENSP00000313122:V146L;ENSP00000379433:V146L;ENSP00000347182:V146L;ENSP00000346214:V146L;ENSP00000405151:V101L;ENSP00000388646:V24L	ENSP00000242067:V146L	V	+	1	0	BBS9	33183722	1.000000	0.71417	0.796000	0.32109	0.948000	0.59901	4.241000	0.58707	0.858000	0.35431	-0.797000	0.03246	GTA		0.353	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			28	53	1	0	6.07e-21	8.61e-21	28	53				
ELMO1	9844	broad.mit.edu	37	7	36934481	36934481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:36934481C>T	ENST00000310758.4	-	17	2226	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	ELMO1_ENST00000396040.2_Missense_Mutation_p.D47N|ELMO1_ENST00000341056.3_Missense_Mutation_p.D229N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D527N|ELMO1_ENST00000396045.3_Missense_Mutation_p.D47N|ELMO1_ENST00000448602.1_Missense_Mutation_p.D527N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	527					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GACTGGAAATCTTCCTGGTTC	0.478																																						uc003tfk.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(1579-1581)GAT>AAT		engulfment and cell motility 1 isoform 1							139.0	128.0	131.0					7																	36934481		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36934481C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1579G>A	7.37:g.36934481C>T	ENSP00000312185:p.Asp527Asn					ELMO1_uc003tfi.1_Missense_Mutation_p.D47N|ELMO1_uc003tfj.1_Missense_Mutation_p.D47N|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.D431N|ELMO1_uc010kxg.1_Missense_Mutation_p.D527N	p.D527N	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			17	1886	-			527					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1579G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512140	0.96402	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	M	0.69823	2.125	0.80722	D	1	P	0.36330	0.548	B	0.35039	0.194	T	0.41502	-0.9505	10	0.33141	T	0.24	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	527	Q92556	ELMO1_HUMAN	N	229;47;527;431;47;527;527	ENSP00000342142:D229N;ENSP00000379360:D47N;ENSP00000312185:D527N;ENSP00000379355:D47N;ENSP00000406952:D527N;ENSP00000394458:D527N	ENSP00000312185:D527N	D	-	1	0	ELMO1	36901006	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.805000	0.96524	0.655000	0.94253	GAT		0.478	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		16	50	0	0	0	0	16	50				
POLM	27434	broad.mit.edu	37	7	44119312	44119312	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:44119312G>A	ENST00000242248.5	-	4	601	c.500C>T	c.(499-501)gCa>gTa	p.A167V	POLM_ENST00000395831.3_Missense_Mutation_p.A167V|POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Missense_Mutation_p.A167V	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	167					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TTCAAAGCCTGCTGCCTCGGC	0.652								DNA polymerases (catalytic subunits)																														uc003tjt.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(499-501)GCA>GTA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase mu							39.0	43.0	42.0					7																	44119312		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44119312G>A	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.500C>T	7.37:g.44119312G>A	ENSP00000242248:p.Ala167Val					POLM_uc003tju.2_Missense_Mutation_p.A167V|POLM_uc003tjx.2_Missense_Mutation_p.A167V|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Missense_Mutation_p.A167V|POLM_uc011kbu.1_Missense_Mutation_p.A134V|POLM_uc010kxy.2_Missense_Mutation_p.A167V	p.A167V	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN			4	592	-			167					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.500C>T	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255446	0.59321	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831;ENST00000414235	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.75	5.75	0.90469	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	M	0.76002	2.32	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.992;0.99;0.999;0.999;0.999	T	0.56798	-0.7919	10	0.18710	T	0.47	-25.1596	15.4404	0.75178	0.0:0.0:1.0:0.0	.	134;167;167;167;167;167	B4DG75;Q6PIY2;Q9H980;Q86WQ9;Q6P5X8;Q9NP87	.;.;.;.;.;DPOLM_HUMAN	V	167;167;167;134	ENSP00000335141:A167V;ENSP00000242248:A167V;ENSP00000379174:A167V;ENSP00000390899:A134V	ENSP00000242248:A167V	A	-	2	0	POLM	44085837	1.000000	0.71417	0.296000	0.24974	0.193000	0.23685	6.866000	0.75506	2.725000	0.93324	0.655000	0.94253	GCA		0.652	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		19	41	0	0	0	0	19	41				
OGDH	4967	broad.mit.edu	37	7	44733439	44733439	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:44733439G>T	ENST00000222673.5	+	11	1393	c.1351G>T	c.(1351-1353)Gac>Tac	p.D451Y	OGDH_ENST00000543843.1_Missense_Mutation_p.D402Y|OGDH_ENST00000447398.1_Missense_Mutation_p.D462Y|OGDH_ENST00000444676.1_Missense_Mutation_p.D466Y|OGDH_ENST00000439616.2_Missense_Mutation_p.D301Y|OGDH_ENST00000449767.1_Missense_Mutation_p.D447Y	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	451					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTTCACCACCGACCCTCGGAT	0.647																																						uc003tln.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1351-1353)GAC>TAC		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						68.0	51.0	57.0					7																	44733439		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44733439G>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1351G>T	7.37:g.44733439G>T	ENSP00000222673:p.Asp451Tyr					OGDH_uc011kbx.1_Missense_Mutation_p.D447Y|OGDH_uc011kby.1_Missense_Mutation_p.D301Y|OGDH_uc003tlp.2_Missense_Mutation_p.D462Y|OGDH_uc011kbz.1_Missense_Mutation_p.D246Y|OGDH_uc003tlo.1_Missense_Mutation_p.D284Y	p.D451Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN			11	1460	+			451					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.1351G>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046264	0.93740	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	5.69	5.69	0.88448	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	M	0.76938	2.355	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97847	1.0272	10	0.59425	D	0.04	-49.9627	19.4294	0.94758	0.0:0.0:1.0:0.0	.	246;301;447;462;353;451	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	Y	301;447;462;466;451;402	ENSP00000398576:D301Y;ENSP00000392878:D447Y;ENSP00000388183:D462Y;ENSP00000414662:D466Y;ENSP00000222673:D451Y;ENSP00000443821:D402Y	ENSP00000222673:D451Y	D	+	1	0	OGDH	44699964	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	9.869000	0.99810	2.691000	0.91804	0.655000	0.94253	GAC		0.647	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			8	12	1	0	3.1e-07	3.72e-07	8	12				
ABCA13	154664	broad.mit.edu	37	7	48314857	48314857	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:48314857C>G	ENST00000435803.1	+	17	5618	c.5594C>G	c.(5593-5595)tCt>tGt	p.S1865C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1865					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCACCTGTCTCCCCAAGGT	0.423																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(5593-5595)TCT>TGT		ATP binding cassette, sub-family A (ABC1),							60.0	59.0	59.0					7																	48314857		1860	4097	5957	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314857C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5594C>G	7.37:g.48314857C>G	ENSP00000411096:p.Ser1865Cys					ABCA13_uc010kyr.2_Missense_Mutation_p.S1368C	p.S1865C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	5619	+			1865					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5594C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	9.796	1.179271	0.21787	.	.	ENSG00000179869	ENST00000435803	T	0.23754	1.89	6.16	4.15	0.48705	.	0.687245	0.13039	N	0.418719	T	0.30916	0.0780	L	0.57536	1.79	0.19945	N	0.99994	D	0.63880	0.993	P	0.49999	0.628	T	0.19192	-1.0313	9	.	.	.	.	5.3053	0.15801	0.0:0.7105:0.0:0.2895	.	1865	Q86UQ4	ABCAD_HUMAN	C	1865	ENSP00000411096:S1865C	.	S	+	2	0	ABCA13	48285403	0.002000	0.14202	0.098000	0.21074	0.023000	0.10783	1.493000	0.35605	1.623000	0.50342	0.650000	0.86243	TCT		0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		28	24	0	0	0	0	28	24				
MAGI2	9863	broad.mit.edu	37	7	79082487	79082487	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:79082487G>T	ENST00000354212.4	-	1	403	c.150C>A	c.(148-150)ggC>ggA	p.G50G	MAGI2_ENST00000419488.1_Silent_p.G50G|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2_ENST00000522391.1_Silent_p.G50G|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000424477.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	50	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGCCACCTTGCCGGGCTTCA	0.642																																						uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(148-150)GGC>GGA		membrane associated guanylate kinase, WW and PDZ							63.0	70.0	67.0					7																	79082487		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082487G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.150C>A	7.37:g.79082487G>T						MAGI2_uc003ugy.2_Silent_p.G50G|uc010lea.1_5'Flank	p.G50G	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			1	404	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	50			PDZ 1.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.150C>A	CCDS5594.1																																																																																				0.642	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		31	77	1	0	4.75e-14	6.43e-14	31	77				
CACNA2D1	781	broad.mit.edu	37	7	81693654	81693654	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:81693654C>A	ENST00000356253.5	-	9	1000	c.745G>T	c.(745-747)Gca>Tca	p.A249S	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A249S|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A249S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	249					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TTAGGAGATGCAGCTCCTTGG	0.313																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(745-747)GCA>TCA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						89.0	85.0	86.0					7																	81693654		2203	4297	6500	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81693654C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.745G>T	7.37:g.81693654C>A	ENSP00000348589:p.Ala249Ser						p.A249S	NM_000722	NP_000713	P54289	CA2D1_HUMAN			9	1001	-			249			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.745G>T		.	.	.	.	.	.	.	.	.	.	C	10.66	1.412646	0.25465	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.20738	3.39;3.38;2.05	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.09247	0.0228	N	0.01535	-0.81	0.80722	D	1	B	0.18310	0.027	B	0.22880	0.042	T	0.32534	-0.9903	10	0.12766	T	0.61	-19.5016	17.4859	0.87688	0.0:1.0:0.0:0.0	.	249	P54289-2	.	S	249	ENSP00000349320:A249S;ENSP00000348589:A249S;ENSP00000405395:A249S	ENSP00000284088:A249S	A	-	1	0	CACNA2D1	81531590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.160000	0.58164	2.658000	0.90341	0.650000	0.86243	GCA		0.313	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				9	28	1	0	1.77e-08	2.19e-08	9	28				
PCLO	27445	broad.mit.edu	37	7	82585441	82585441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:82585441G>A	ENST00000333891.9	-	5	5165	c.4828C>T	c.(4828-4830)Cga>Tga	p.R1610*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R1610*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGAGTCAGTCGTCTGTGTTTC	0.428																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(4828-4830)CGA>TGA		piccolo isoform 1							286.0	275.0	279.0					7																	82585441		2063	4202	6265	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585441G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4828C>T	7.37:g.82585441G>A	ENSP00000334319:p.Arg1610*					PCLO_uc003uhv.2_Nonsense_Mutation_p.R1610*	p.R1610*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5117	-			1541						Nonsense_Mutation	SNP	ENST00000333891.9	37	c.4828C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	46	12.328290	0.99657	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.26	0.708	0.18144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.1289	0.65240	0.0:0.0:0.3434:0.6566	.	.	.	.	X	1541;1610;1610	.	ENSP00000334319:R1610X	R	-	1	2	PCLO	82423377	0.996000	0.38824	0.882000	0.34594	0.995000	0.86356	2.014000	0.40951	0.531000	0.28639	0.655000	0.94253	CGA		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		34	224	0	0	0	0	34	224				
PEX1	5189	broad.mit.edu	37	7	92147348	92147348	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:92147348T>C	ENST00000248633.4	-	5	576	c.481A>G	c.(481-483)Ata>Gta	p.I161V	PEX1_ENST00000428214.1_Missense_Mutation_p.I161V|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'Flank	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	161					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCAGCTGGTATTAGTGCAACT	0.393																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(481-483)ATA>GTA		peroxin1							48.0	50.0	49.0					7																	92147348		2202	4300	6502	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92147348T>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.481A>G	7.37:g.92147348T>C	ENSP00000248633:p.Ile161Val					PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.I161V|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.I161V	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	577	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	161					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.481A>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	1.991	-0.431891	0.04669	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.94138	-3.3;-3.36	5.84	0.277	0.15668	Peroxisome biogenesis factor 1, N-terminal (1);	0.616514	0.18428	N	0.141536	T	0.78329	0.4266	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.65865	-0.6064	10	0.02654	T	1	0.1717	7.447	0.27217	0.0:0.1267:0.3482:0.5251	.	161	O43933	PEX1_HUMAN	V	161	ENSP00000248633:I161V;ENSP00000394413:I161V	ENSP00000248633:I161V	I	-	1	0	PEX1	91985284	0.000000	0.05858	0.049000	0.19019	0.073000	0.16967	0.093000	0.15086	0.091000	0.17302	0.528000	0.53228	ATA		0.393	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		14	33	0	0	0	0	14	33				
PEG10	23089	broad.mit.edu	37	7	94293079	94293079	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:94293079C>G	ENST00000482108.1	+	2	690	c.211C>G	c.(211-213)Ccc>Gcc	p.P71A	PEG10_ENST00000488574.1_Missense_Mutation_p.P71A	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	71					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCTGCCCCACCCCCTCCAAT	0.582																																						uc011kie.1		NA																	0				central_nervous_system(1)	1						c.(439-441)CCC>GCC		paternally expressed 10 isoform RF1							41.0	47.0	45.0					7																	94293079		2003	4162	6165	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293079C>G	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.211C>G	7.37:g.94293079C>G	ENSP00000417587:p.Pro71Ala						p.P147A	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	656	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		71					Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.439C>G	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	3.706	-0.060456	0.07317	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.13778	2.56;2.56	4.35	-3.49	0.04724	.	.	.	.	.	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44360	-0.9333	9	0.12766	T	0.61	.	5.2211	0.15370	0.1663:0.2274:0.5155:0.0908	.	147;71	B4DSP0;Q86TG7	.;PEG10_HUMAN	A	71	ENSP00000417587:P71A;ENSP00000418944:P71A	ENSP00000417587:P71A	P	+	1	0	PEG10	94131015	0.000000	0.05858	0.001000	0.08648	0.971000	0.66376	-2.077000	0.01371	-0.829000	0.04268	0.555000	0.69702	CCC		0.582	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		7	13	0	0	0	0	7	13				
SHFM1	7979	broad.mit.edu	37	7	96303092	96303092	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:96303092T>A	ENST00000413065.1	-	3	337	c.250A>T	c.(250-252)Agt>Tgt	p.S84C	SHFM1_ENST00000444799.1_Intron|SHFM1_ENST00000417009.1_Intron			P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	0					double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AGGAAAGCACTGCACATTCTT	0.453								Homologous recombination																														uc010lfn.1		NA																	0					0						c.(250-252)AGT>TGT	Direct_reversal_of_damage|Homologous_recombination	split hand/foot malformation type 1							75.0	66.0	69.0					7																	96303092		876	1991	2867	SO:0001583	missense	7979				proteolysis	proteasome complex	peptidase activity|protein binding	g.chr7:96303092T>A	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000413065.1:c.250A>T	7.37:g.96303092T>A	ENSP00000409481:p.Ser84Cys						p.S84C	NM_006304	NP_006295	P60896	DSS1_HUMAN			3	378	-	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)		Error:Variant_position_missing_in_P60896_after_alignment					Q13437|Q61067	Missense_Mutation	SNP	ENST00000413065.1	37	c.250A>T		.	.	.	.	.	.	.	.	.	.	T	5.015	0.188391	0.09547	.	.	ENSG00000127922	ENST00000413065	T	0.50813	0.73	2.1	0.943	0.19531	.	.	.	.	.	T	0.25865	0.0630	.	.	.	0.09310	N	1	P	0.40834	0.73	B	0.25614	0.062	T	0.20371	-1.0277	8	0.87932	D	0	.	3.3473	0.07140	0.0:0.2467:0.0:0.7533	.	84	F2Z309	.	C	84	ENSP00000409481:S84C	ENSP00000409481:S84C	S	-	1	0	SHFM1	96141028	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-0.381000	0.07417	0.276000	0.22118	0.397000	0.26171	AGT		0.453	SHFM1-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000319598.1	NM_006304		12	31	0	0	0	0	12	31				
ZAN	7455	broad.mit.edu	37	7	100345803	100345803	+	RNA	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:100345803T>A	ENST00000348028.3	+	0	1232				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAGCCAGCTGTGGCAGTTGAT	0.622																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1066-1068)GTG>GAG		zonadhesin isoform 3							64.0	66.0	65.0					7																	100345803		1952	4151	6103			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345803T>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345803T>A						ZAN_uc003uwk.2_Missense_Mutation_p.V356E|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.V356E	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		10	1232	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		356			MAM 2.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.1067T>A		.	.	.	.	.	.	.	.	.	.	T	17.65	3.441187	0.63067	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.03094	4.05;4.05;4.05	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.229891	0.22245	N	0.062637	T	0.16727	0.0402	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.981;0.989	T	0.00125	-1.2022	10	0.87932	D	0	.	11.1526	0.48469	0.0:0.0:0.0:1.0	.	356;356	F5H0T8;Q9Y493	.;ZAN_HUMAN	E	356	ENSP00000445943:V356E;ENSP00000445091:V356E;ENSP00000444427:V356E	ENSP00000423579:V356E	V	+	2	0	ZAN	100183739	0.987000	0.35691	0.973000	0.42090	0.607000	0.37147	2.093000	0.41710	2.044000	0.60594	0.454000	0.30748	GTG		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	37	0	0	0	0	14	37				
LAMB1	3912	broad.mit.edu	37	7	107638890	107638890	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:107638890C>T	ENST00000222399.6	-	4	491	c.261G>A	c.(259-261)gaG>gaA	p.E87E	U3_ENST00000458938.1_RNA|LAMB1_ENST00000393560.1_Silent_p.E87E|LAMB1_ENST00000393561.1_Silent_p.E111E	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	87	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GATTCAGGGTCTCATGATAAG	0.388																																						uc003vew.2		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(259-261)GAG>GAA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						149.0	130.0	136.0					7																	107638890		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107638890C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.261G>A	7.37:g.107638890C>T						LAMB1_uc003vev.2_Silent_p.E111E|LAMB1_uc003vex.2_Silent_p.E87E|LAMB1_uc010ljn.1_Silent_p.E173E	p.E87E	NM_002291	NP_002282	P07942	LAMB1_HUMAN			4	596	-			87			Laminin N-terminal.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.261G>A	CCDS5750.1																																																																																				0.388	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		33	77	0	0	0	0	33	77				
ASZ1	136991	broad.mit.edu	37	7	117024803	117024803	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:117024803C>A	ENST00000284629.2	-	6	726	c.664G>T	c.(664-666)Gca>Tca	p.A222S		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTTCTTTTTGCAATCTCACTT	0.333																																						uc003vjb.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(664-666)GCA>TCA		ankyrin repeat, SAM and basic leucine zipper							165.0	149.0	154.0					7																	117024803		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117024803C>A	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.664G>T	7.37:g.117024803C>A	ENSP00000284629:p.Ala222Ser					ASZ1_uc011kno.1_Missense_Mutation_p.A222S|ASZ1_uc011knp.1_Missense_Mutation_p.A14S	p.A222S	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		6	727	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		222			ANK 6.			Missense_Mutation	SNP	ENST00000284629.2	37	c.664G>T	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153313	0.78114	.	.	ENSG00000154438	ENST00000284629	D	0.89123	-2.47	5.83	4.95	0.65309	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94312	0.7546	10	0.87932	D	0	-3.6325	13.7759	0.63053	0.0:0.9251:0.0:0.0749	.	222;222	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	S	222	ENSP00000284629:A222S	ENSP00000284629:A222S	A	-	1	0	ASZ1	116812039	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.362000	0.66098	1.479000	0.48272	0.655000	0.94253	GCA		0.333	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		28	70	1	0	2.08e-15	2.85e-15	28	70				
UBN2	254048	broad.mit.edu	37	7	138946205	138946205	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:138946205C>T	ENST00000473989.3	+	6	1113	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	UBN2_ENST00000288561.8_Silent_p.D288D	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	371						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACGTCCCGGACTTAAATCTGA	0.483																																						uc011kqr.1		NA																	0				ovary(1)|skin(1)	2						c.(1111-1113)GAC>GAT		ubinuclein 2							87.0	86.0	86.0					7																	138946205		1902	4111	6013	SO:0001819	synonymous_variant	254048							g.chr7:138946205C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1113C>T	7.37:g.138946205C>T						UBN2_uc003vuv.2_Silent_p.D94D	p.D371D	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			6	1113	+			371					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	c.1113C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	0.566	-0.843172	0.02671	.	.	ENSG00000157741	ENST00000483726	.	.	.	6.08	1.96	0.26148	.	.	.	.	.	T	0.60958	0.2309	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56450	-0.7977	4	.	.	.	-1.7462	11.3396	0.49525	0.2364:0.5355:0.2281:0.0	.	.	.	.	I	140	.	.	T	+	2	0	UBN2	138596745	0.984000	0.35163	0.153000	0.22517	0.159000	0.22180	0.901000	0.28445	0.413000	0.25759	-0.169000	0.13324	ACT		0.483	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		25	67	0	0	0	0	25	67				
UBN2	254048	broad.mit.edu	37	7	138946371	138946371	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:138946371G>C	ENST00000473989.3	+	6	1279	c.1279G>C	c.(1279-1281)Gaa>Caa	p.E427Q	UBN2_ENST00000288561.8_Missense_Mutation_p.E344Q	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	427						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GTCGGGGGGTGAAAATGGAAC	0.483																																						uc011kqr.1		NA																	0				ovary(1)|skin(1)	2						c.(1279-1281)GAA>CAA		ubinuclein 2							77.0	75.0	76.0					7																	138946371		1915	4123	6038	SO:0001583	missense	254048							g.chr7:138946371G>C	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1279G>C	7.37:g.138946371G>C	ENSP00000418648:p.Glu427Gln					UBN2_uc003vuv.2_Missense_Mutation_p.E150Q	p.E427Q	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			6	1279	+			427					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.1279G>C	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003509	0.93287	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.34472	1.36;1.38	5.96	5.96	0.96718	.	0.212591	0.48767	D	0.000168	T	0.58090	0.2098	L	0.54323	1.7	0.58432	D	0.999996	D	0.76494	0.999	D	0.80764	0.994	T	0.48927	-0.8991	9	.	.	.	-18.506	20.4123	0.99019	0.0:0.0:1.0:0.0	.	427	Q6ZU65	UBN2_HUMAN	Q	427;344	ENSP00000418648:E427Q;ENSP00000288561:E344Q	.	E	+	1	0	UBN2	138596911	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.914000	0.92735	2.824000	0.97209	0.655000	0.94253	GAA		0.483	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		12	70	0	0	0	0	12	70				
FAM115C	285966	broad.mit.edu	37	7	143417115	143417115	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:143417115C>T	ENST00000441159.2	+	3	1029	c.963C>T	c.(961-963)tgC>tgT	p.C321C	FAM115C_ENST00000425618.2_Silent_p.C40C|FAM115C_ENST00000411935.1_Silent_p.C157C|FAM115C_ENST00000444908.2_Silent_p.C321C|FAM115C_ENST00000411497.2_Silent_p.C40C|FAM115C_ENST00000409703.3_Silent_p.C157C|FAM115C_ENST00000357344.4_Silent_p.C321C			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	321					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GCCTGCAATGCAGCCTGGAGC	0.562																																						uc003wdf.2		NA																	0					0						c.(961-963)TGC>TGT		hypothetical protein LOC285966 isoform A							39.0	37.0	38.0					7																	143417115		1456	3147	4603	SO:0001819	synonymous_variant	285966							g.chr7:143417115C>T	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.963C>T	7.37:g.143417115C>T						FAM115C_uc003wdg.2_Silent_p.C40C|FAM115C_uc011ktk.1_Silent_p.C321C|FAM115C_uc003wdh.2_Silent_p.C321C|FAM115C_uc011ktm.1_Silent_p.C321C|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|FAM115C_uc011ktt.1_Silent_p.C157C|FAM115C_uc003wdi.1_Silent_p.C40C	p.C321C	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN			3	1046	+			321					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Silent	SNP	ENST00000441159.2	37	c.963C>T		.	.	.	.	.	.	.	.	.	.	c	0.081	-1.182922	0.01620	.	.	ENSG00000170379	ENST00000518791	.	.	.	3.58	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.1673	8.2039	0.31441	0.0:0.7824:0.0:0.2176	.	.	.	.	X	136	.	.	Q	+	1	0	FAM115C	143048048	0.961000	0.32948	0.035000	0.18076	0.133000	0.20885	0.819000	0.27308	0.259000	0.21709	0.411000	0.27672	CAG		0.562	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		15	69	0	0	0	0	15	69				
KRBA1	84626	broad.mit.edu	37	7	149426299	149426299	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:149426299G>A	ENST00000255992.10	+	13	2047	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	KRBA1_ENST00000319551.8_Intron|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Intron	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	550										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGGCCTGCGAGTCAGCCGT	0.632																																						uc003wfz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1648-1650)GAG>AAG		KRAB A domain containing 1							19.0	26.0	24.0					7																	149426299		1939	4135	6074	SO:0001583	missense	84626							g.chr7:149426299G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000255992.10:c.1648G>A	7.37:g.149426299G>A	ENSP00000255992:p.Glu550Lys					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_Intron|KRBA1_uc003wgb.2_Intron	p.E550K	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		13	2047	+	Melanoma(164;0.165)|Ovarian(565;0.177)		550					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000255992.10	37	c.1648G>A		.	.	.	.	.	.	.	.	.	.	G	7.630	0.678657	0.14841	.	.	ENSG00000133619	ENST00000255992	T	0.37058	1.22	3.73	3.73	0.42828	.	0.325993	0.22331	N	0.061474	T	0.34193	0.0889	L	0.32530	0.975	0.37919	D	0.93162	D	0.65815	0.995	P	0.49637	0.617	T	0.22521	-1.0214	10	0.46703	T	0.11	-4.987	11.3082	0.49347	0.0:0.0:1.0:0.0	.	550	A5PL33	KRBA1_HUMAN	K	550	ENSP00000255992:E550K	ENSP00000255992:E550K	E	+	1	0	KRBA1	149057232	0.006000	0.16342	0.011000	0.14972	0.001000	0.01503	1.518000	0.35877	2.388000	0.81334	0.655000	0.94253	GAG		0.632	KRBA1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032534		4	25	0	0	0	0	4	25				
SHH	6469	broad.mit.edu	37	7	155596377	155596377	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:155596377C>T	ENST00000297261.2	-	3	756	c.606G>A	c.(604-606)tcG>tcA	p.S202S	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	202					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCGTGGCCGAGCCCGGGA	0.677																																						uc003wmk.1		NA																	0				central_nervous_system(3)|lung(1)	4						c.(604-606)TCG>TCA		sonic hedgehog preproprotein							11.0	14.0	13.0					7																	155596377		2178	4272	6450	SO:0001819	synonymous_variant	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155596377C>T		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.606G>A	7.37:g.155596377C>T						SHH_uc003wmh.1_Intron|SHH_uc003wmi.1_Intron|SHH_uc003wmj.1_Silent_p.S115S	p.S202S	NM_000193	NP_000184	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	757	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	202					A4D247|Q75MC9	Silent	SNP	ENST00000297261.2	37	c.606G>A	CCDS5942.1																																																																																				0.677	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		5	18	0	0	0	0	5	18				
MTMR7	9108	broad.mit.edu	37	8	17159737	17159737	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:17159737A>T	ENST00000180173.5	-	13	1580	c.1546T>A	c.(1546-1548)Tca>Aca	p.S516T	MTMR7_ENST00000398099.3_Missense_Mutation_p.S107T|MTMR7_ENST00000521857.1_Missense_Mutation_p.S516T	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	516					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCTGTAACTGACTGTCGGGGC	0.453																																						uc003wxm.2		NA																	0				skin(1)	1						c.(1546-1548)TCA>ACA		myotubularin related protein 7							153.0	138.0	143.0					8																	17159737		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17159737A>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1546T>A	8.37:g.17159737A>T	ENSP00000180173:p.Ser516Thr					MTMR7_uc003wxn.2_Missense_Mutation_p.S295T|MTMR7_uc011kya.1_Missense_Mutation_p.S150T|MTMR7_uc011kyb.1_Missense_Mutation_p.S107T	p.S516T	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	13	1785	-			516					A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.1546T>A	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564148	0.65651	.	.	ENSG00000003987	ENST00000180173;ENST00000398099;ENST00000521857	D;T;D	0.94280	-3.2;-1.18;-3.39	5.59	5.59	0.84812	.	0.288334	0.40469	N	0.001098	D	0.94456	0.8216	L	0.47716	1.5	0.58432	D	0.999998	D;B	0.69078	0.997;0.402	D;B	0.66847	0.947;0.17	D	0.92335	0.5877	10	0.15499	T	0.54	.	16.0849	0.81038	1.0:0.0:0.0:0.0	.	516;516	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	T	516;107;516	ENSP00000180173:S516T;ENSP00000381171:S107T;ENSP00000429733:S516T	ENSP00000180173:S516T	S	-	1	0	MTMR7	17204108	1.000000	0.71417	0.738000	0.30950	0.886000	0.51366	7.576000	0.82467	2.267000	0.75376	0.383000	0.25322	TCA		0.453	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		43	97	0	0	0	0	43	97				
HR	55806	broad.mit.edu	37	8	21973246	21973246	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:21973246C>T	ENST00000381418.4	-	19	5017	c.3537G>A	c.(3535-3537)aaG>aaA	p.K1179K	HR_ENST00000312841.8_Silent_p.K1124K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1179					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCACGGCCACCTTCACTGCTT	0.562																																						uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3535-3537)AAG>AAA		hairless protein isoform a							142.0	98.0	113.0					8																	21973246		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21973246C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.3537G>A	8.37:g.21973246C>T						HR_uc003xat.2_Silent_p.K1124K	p.K1179K	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	19	4202	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	1179					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.3537G>A	CCDS6022.1																																																																																				0.562	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			7	30	0	0	0	0	7	30				
ADAM28	10863	broad.mit.edu	37	8	24168892	24168892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:24168892G>T	ENST00000265769.4	+	5	435	c.325G>T	c.(325-327)Gga>Tga	p.G109*	ADAM28_ENST00000437154.2_Nonsense_Mutation_p.G109*|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	109					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTATTATCAAGGACATATTCT	0.388																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2		NA																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(325-327)GGA>TGA		ADAM metallopeptidase domain 28 isoform 1							111.0	108.0	109.0					8																	24168892		2203	4300	6503	SO:0001587	stop_gained	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24168892G>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.325G>T	8.37:g.24168892G>T	ENSP00000265769:p.Gly109*					ADAM28_uc003xdx.2_Nonsense_Mutation_p.G109*|ADAM28_uc011kzz.1_Translation_Start_Site|ADAM28_uc011laa.1_RNA	p.G109*	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	5	408	+		Prostate(55;0.0959)	109					B2RMV5|Q9Y339|Q9Y3S0	Nonsense_Mutation	SNP	ENST00000265769.4	37	c.325G>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148609	0.57151	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.4443	0.67340	0.0:0.0:1.0:0.0	.	.	.	.	X	109	.	ENSP00000265769:G109X	G	+	1	0	ADAM28	24224837	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	4.431000	0.59915	2.682000	0.91365	0.585000	0.79938	GGA		0.388	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		9	30	1	0	0.000274275	0.000297796	9	30				
PNMA2	10687	broad.mit.edu	37	8	26365761	26365761	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:26365761T>G	ENST00000522362.2	-	3	1405	c.511A>C	c.(511-513)Agt>Cgt	p.S171R	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	171					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gggacagcactccctgagaat	0.537																																						uc003xez.2		NA																	0					0						c.(511-513)AGT>CGT		paraneoplastic antigen MA2							64.0	61.0	62.0					8																	26365761		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365761T>G		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.511A>C	8.37:g.26365761T>G	ENSP00000429344:p.Ser171Arg						p.S171R	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1281	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	171					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.511A>C	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.799196	0.00617	.	.	ENSG00000240694	ENST00000522362	T	0.07800	3.16	4.22	4.22	0.49857	.	.	.	.	.	T	0.02571	0.0078	N	0.02721	-0.515	0.09310	N	1	P	0.38195	0.622	B	0.30716	0.119	T	0.18524	-1.0334	9	0.02654	T	1	-7.4539	9.9835	0.41828	0.0:0.0:0.0:1.0	.	171	Q9UL42	PNMA2_HUMAN	R	171	ENSP00000429344:S171R	ENSP00000429344:S171R	S	-	1	0	PNMA2	26421678	0.032000	0.19561	0.090000	0.20809	0.008000	0.06430	2.995000	0.49441	2.133000	0.65898	0.533000	0.62120	AGT		0.537	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		15	75	0	0	0	0	15	75				
ADRA1A	148	broad.mit.edu	37	8	26721956	26721956	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:26721956C>T	ENST00000519229.1	-	1	537	c.531G>A	c.(529-531)caG>caA	p.Q177Q	ADRA1A_ENST00000380582.3_Silent_p.Q177Q|ADRA1A_ENST00000380572.3_Silent_p.Q177Q|ADRA1A_ENST00000380581.2_Silent_p.Q177Q|ADRA1A_ENST00000354550.4_Silent_p.Q177Q|ADRA1A_ENST00000380573.3_Silent_p.Q177Q|ADRA1A_ENST00000276393.4_Silent_p.Q177Q|ADRA1A_ENST00000380587.1_Silent_p.Q177Q|ADRA1A_ENST00000358857.5_Silent_p.Q177Q|ADRA1A_ENST00000380586.1_Silent_p.Q177Q			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	247					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CCTCGTTGATCTGGCAGATGG	0.627																																						uc003xfh.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(529-531)CAG>CAA		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						31.0	35.0	34.0					8																	26721956		2203	4300	6503	SO:0001819	synonymous_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26721956C>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.531G>A	8.37:g.26721956C>T						ADRA1A_uc003xfc.1_Silent_p.Q177Q|ADRA1A_uc010lul.1_Silent_p.Q177Q|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Silent_p.Q177Q|ADRA1A_uc010lum.1_Silent_p.Q177Q|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Silent_p.Q177Q	p.Q177Q	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	1	967	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	177			Extracellular (By similarity).		Q9NPY0	Silent	SNP	ENST00000519229.1	37	c.531G>A																																																																																					0.627	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		8	27	0	0	0	0	8	27				
UNC5D	137970	broad.mit.edu	37	8	35579781	35579781	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:35579781G>T	ENST00000404895.2	+	9	1499	c.1171G>T	c.(1171-1173)Gtg>Ttg	p.V391L	UNC5D_ENST00000287272.2_Missense_Mutation_p.V335L|UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000416672.1_Missense_Mutation_p.V396L|UNC5D_ENST00000420357.1_Missense_Mutation_p.V324L|UNC5D_ENST00000453357.2_Missense_Mutation_p.V386L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	391					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCTGCCGTCGTGGCCGTTGC	0.522																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1171-1173)GTG>TTG		unc-5 homolog D precursor							266.0	234.0	245.0					8																	35579781		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35579781G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1171G>T	8.37:g.35579781G>T	ENSP00000385143:p.Val391Leu					UNC5D_uc003xjs.1_Missense_Mutation_p.V386L|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.V149L	p.V391L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1499	+			391			Helical; (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1171G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338400	0.41398	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.57752	0.41;1.03;0.85;0.5;0.38	5.71	4.72	0.59763	.	0.154756	0.56097	D	0.000026	T	0.35537	0.0935	N	0.25245	0.725	0.80722	D	1	B;B;B	0.26081	0.108;0.141;0.087	B;B;B	0.30572	0.074;0.117;0.055	T	0.35699	-0.9778	10	0.59425	D	0.04	-17.1098	3.9909	0.09537	0.3204:0.0:0.6796:0.0	.	396;386;391	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	L	391;324;335;396;386	ENSP00000385143:V391L;ENSP00000392739:V324L;ENSP00000287272:V335L;ENSP00000412652:V396L;ENSP00000394303:V386L	ENSP00000287272:V335L	V	+	1	0	UNC5D	35699323	0.956000	0.32656	0.931000	0.37212	0.583000	0.36354	1.871000	0.39539	2.694000	0.91930	0.650000	0.86243	GTG		0.522	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			57	136	1	0	3.89e-19	5.46e-19	57	136				
SNTG1	54212	broad.mit.edu	37	8	51571220	51571220	+	Silent	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:51571220C>A	ENST00000522124.1	+	15	1696	c.1035C>A	c.(1033-1035)ctC>ctA	p.L345L	SNTG1_ENST00000517473.1_Silent_p.L345L|SNTG1_ENST00000518864.1_Silent_p.L345L|SNTG1_ENST00000276467.5_Silent_p.L345L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	345	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.L345L(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCAAGATCCTCAAGGTATGAT	0.373																																						uc010lxy.1		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(2)	ovary(5)	5						c.(1033-1035)CTC>CTA		syntrophin, gamma 1							108.0	91.0	97.0					8																	51571220		2203	4300	6503	SO:0001819	synonymous_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51571220C>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1035C>A	8.37:g.51571220C>A						SNTG1_uc003xqs.1_Silent_p.L345L|SNTG1_uc010lxz.1_Silent_p.L345L|SNTG1_uc011ldl.1_RNA	p.L345L	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			16	1406	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	345			PH.		Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	c.1035C>A	CCDS6147.1																																																																																				0.373	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			7	40	1	0	1.07e-07	1.31e-07	7	40				
KCNB2	9312	broad.mit.edu	37	8	73848928	73848928	+	Silent	SNP	C	C	T	rs141965461		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:73848928C>T	ENST00000523207.1	+	3	1926	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	446					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CCAAAAGGAACGGAAGCATCG	0.453																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1336-1338)AAC>AAT		potassium voltage-gated channel, Shab-related							74.0	78.0	77.0					8																	73848928		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848928C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1338C>T	8.37:g.73848928C>T							p.N446N	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1926	+	Breast(64;0.137)		446			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1338C>T	CCDS6209.1																																																																																				0.453	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		36	82	0	0	0	0	36	82				
DCAF4L2	138009	broad.mit.edu	37	8	88886082	88886082	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:88886082C>A	ENST00000319675.3	-	1	214	c.118G>T	c.(118-120)Gcc>Tcc	p.A40S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	40										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAATAGTTGGCGAATCTGAGG	0.522																																						uc003ydz.2		NA																	0				ovary(1)	1						c.(118-120)GCC>TCC		WD repeat domain 21C							91.0	82.0	85.0					8																	88886082		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886082C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.118G>T	8.37:g.88886082C>A	ENSP00000316496:p.Ala40Ser						p.A40S	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	215	-			40						Missense_Mutation	SNP	ENST00000319675.3	37	c.118G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	T	0.042	-1.281398	0.01398	.	.	ENSG00000176566	ENST00000319675	T	0.60797	0.16	2.23	0.964	0.19655	WD40 repeat-like-containing domain (1);	0.396826	0.29594	N	0.011717	T	0.21103	0.0508	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24261	-1.0165	10	0.12766	T	0.61	.	6.615	0.22773	0.0:0.2853:0.0:0.7147	.	40	Q8NA75	DC4L2_HUMAN	S	40	ENSP00000316496:A40S	ENSP00000316496:A40S	A	-	1	0	DCAF4L2	88955198	0.112000	0.22096	0.000000	0.03702	0.002000	0.02628	-0.018000	0.12568	-1.729000	0.01364	-3.112000	0.00062	GCC		0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		29	45	1	0	2.14e-07	2.6e-07	29	45				
OSR2	116039	broad.mit.edu	37	8	99961349	99961349	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:99961349G>T	ENST00000297565.4	+	2	665	c.169G>T	c.(169-171)Ggg>Tgg	p.G57W	OSR2_ENST00000435298.2_Missense_Mutation_p.G57W|OSR2_ENST00000523368.1_Missense_Mutation_p.G57W|OSR2_ENST00000457907.2_Missense_Mutation_p.G178W|OSR2_ENST00000522510.1_Missense_Mutation_p.G57W	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	57					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CTGGACGCTGGGGTATCCCAA	0.667																																						uc003yir.2		NA																	0				central_nervous_system(1)	1						c.(169-171)GGG>TGG		odd-skipped related 2 isoform a							53.0	59.0	57.0					8																	99961349		2070	4195	6265	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961349G>T	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.169G>T	8.37:g.99961349G>T	ENSP00000297565:p.Gly57Trp					OSR2_uc010mbn.2_Missense_Mutation_p.G57W|OSR2_uc003yiq.2_Missense_Mutation_p.G57W|OSR2_uc011lgx.1_Missense_Mutation_p.G178W	p.G57W	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	704	+	Breast(36;4.14e-07)		57					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.169G>T	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606224	0.87157	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.13089	2.75;2.76;2.93;2.76;2.62;2.78;2.94	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.03863	-1.0997	9	.	.	.	-14.4035	17.1937	0.86887	0.0:0.0:1.0:0.0	.	178;57;57;57	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	W	57;57;57;57;178;110;57	ENSP00000430041:G57W;ENSP00000297565:G57W;ENSP00000402862:G57W;ENSP00000430780:G57W;ENSP00000414657:G178W;ENSP00000430074:G110W;ENSP00000429910:G57W	.	G	+	1	0	OSR2	100030525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.470000	0.83445	0.655000	0.94253	GGG		0.667	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		20	58	1	0	1.02e-10	1.33e-10	20	58				
KCNV1	27012	broad.mit.edu	37	8	110980809	110980809	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:110980809C>A	ENST00000524391.1	-	4	2043	c.1011G>T	c.(1009-1011)atG>atT	p.M337I	KCNV1_ENST00000297404.1_Missense_Mutation_p.M337I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	337					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGGTGATTGTCATCCCAAGGG	0.483																																						uc003ynr.3		NA																	0				lung(1)|kidney(1)	2						c.(1009-1011)ATG>ATT		potassium channel, subfamily V, member 1							71.0	58.0	62.0					8																	110980809		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980809C>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1011G>T	8.37:g.110980809C>A	ENSP00000435954:p.Met337Ile					KCNV1_uc010mcw.2_Missense_Mutation_p.M337I	p.M337I	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1353	-	all_neural(195;0.219)		337			Cytoplasmic (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.1011G>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271622	0.40194	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97328	-4.34;-4.34	5.62	4.69	0.59074	Ion transport (1);	0.145468	0.64402	D	0.000008	D	0.91764	0.7395	N	0.11000	0.08	0.49130	D	0.999757	B	0.14805	0.011	B	0.11329	0.006	D	0.87913	0.2698	10	0.30854	T	0.27	.	14.4229	0.67196	0.1479:0.8521:0.0:0.0	.	337	Q6PIU1	KCNV1_HUMAN	I	337;337;213	ENSP00000435954:M337I;ENSP00000297404:M337I	ENSP00000297404:M337I	M	-	3	0	KCNV1	111049985	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.961000	0.56759	2.628000	0.89032	0.655000	0.94253	ATG		0.483	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		16	37	1	0	3.33e-07	3.99e-07	16	37				
CSMD3	114788	broad.mit.edu	37	8	113318352	113318352	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:113318352G>T	ENST00000297405.5	-	51	8199	c.7955C>A	c.(7954-7956)aCg>aAg	p.T2652K	CSMD3_ENST00000455883.2_Missense_Mutation_p.T2548K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2612K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2582K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2652	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2652R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAACTCGCGTTCCTACCAA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7954-7956)ACG>AAG		CUB and Sushi multiple domains 3 isoform 1							154.0	138.0	143.0					8																	113318352		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318352G>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.7955C>A	8.37:g.113318352G>T	ENSP00000297405:p.Thr2652Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T1854K|CSMD3_uc003ynt.2_Missense_Mutation_p.T2612K|CSMD3_uc011lhx.1_Missense_Mutation_p.T2548K	p.T2652K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			51	8114	-			2652			Extracellular (Potential).|Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7955C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674559	0.67928	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.73598	0.3607	L	0.42686	1.345	0.50313	D	0.999862	D;D;D	0.89917	1.0;1.0;0.974	D;D;P	0.97110	0.999;1.0;0.846	T	0.68454	-0.5404	10	0.27082	T	0.32	.	19.4468	0.94851	0.0:0.0:1.0:0.0	.	2548;2652;2612	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	2612;2652;1922;2548;2582	ENSP00000345799:T2612K;ENSP00000297405:T2652K;ENSP00000341558:T1922K;ENSP00000412263:T2548K;ENSP00000343124:T2582K	ENSP00000297405:T2652K	T	-	2	0	CSMD3	113387528	1.000000	0.71417	0.988000	0.46212	0.418000	0.31294	6.496000	0.73670	2.591000	0.87537	0.557000	0.71058	ACG		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	70	1	0	4.35e-09	5.48e-09	21	70				
CDKN2A	1029	broad.mit.edu	37	9	21971137	21971137	+	Missense_Mutation	SNP	T	T	A	rs200429615		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:21971137T>A	ENST00000304494.5	-	2	491	c.221A>T	c.(220-222)gAc>gTc	p.D74V	CDKN2A_ENST00000578845.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D23V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D74V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D74V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000361570.3_Silent_p.R129R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D23V|CDKN2A_ENST00000579755.1_Silent_p.R88R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D74V|CDKN2A_ENST00000530628.2_Silent_p.R88R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	74			D -> N (in a bladder tumor).|D -> V (in a biliary tract tumor).|D -> Y (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D74V(2)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.C72fs*71(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGTGGCGGGGTCGGCGCAGTT	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1367	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(4)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(1112)|p.?(13)|p.D74Y(5)|p.D74V(2)|p.D74N(2)|p.D74D(2)|p.L65fs*38(1)|p.V59fs*45(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.D74E(1)|p.C72fs*71(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(55)|pleura(51)|upper_aerodigestive_tract(50)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(220-222)GAC>GTC		cyclin-dependent kinase inhibitor 2A isoform 1							9.0	12.0	11.0					9																	21971137		2170	4243	6413	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971137T>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.221A>T	9.37:g.21971137T>A	ENSP00000307101:p.Asp74Val	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.R129R	p.D74V	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	433	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	74		D -> N (in a bladder tumor).|D -> V (in a biliary tract tumor).|D -> Y (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.221A>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741991	0.89573	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.94184	-3.37;-3.37	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.96753	0.8940	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97318	0.9942	8	0.87932	D	0	-18.6892	15.1076	0.72332	0.0:0.0:0.0:1.0	.	74	P42771	CD2A1_HUMAN	V	74	ENSP00000307101:D74V;ENSP00000394932:D74V	ENSP00000307101:D74V	D	-	2	0	CDKN2A	21961137	1.000000	0.71417	0.993000	0.49108	0.837000	0.47467	5.373000	0.66162	2.207000	0.71202	0.454000	0.30748	GAC		0.711	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		7	5	0	0	0	0	7	5				
NPR2	4882	broad.mit.edu	37	9	35794092	35794092	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:35794092G>T	ENST00000342694.2	+	2	1120	c.865G>T	c.(865-867)Gcc>Tcc	p.A289S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	289					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	cctcagagaggcctttcaggt	0.577																																						uc003zyd.2		NA																	0				ovary(2)|stomach(1)	3						c.(865-867)GCC>TCC		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						25.0	28.0	27.0					9																	35794092		2202	4300	6502	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35794092G>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.865G>T	9.37:g.35794092G>T	ENSP00000341083:p.Ala289Ser					NPR2_uc010mlb.2_Missense_Mutation_p.A289S	p.A289S	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	865	+	all_epithelial(49;0.161)		289			Extracellular (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.865G>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958514	0.92726	.	.	ENSG00000159899	ENST00000342694	T	0.79653	-1.29	4.11	4.11	0.48088	Extracellular ligand-binding receptor (1);	0.000000	0.40818	N	0.001001	D	0.86552	0.5960	M	0.74467	2.265	0.44660	D	0.997647	D;B	0.60160	0.987;0.026	P;B	0.57152	0.814;0.022	D	0.87598	0.2495	10	0.48119	T	0.1	.	15.8785	0.79185	0.0:0.0:1.0:0.0	.	289;289	P20594-2;P20594	.;ANPRB_HUMAN	S	289	ENSP00000341083:A289S	ENSP00000341083:A289S	A	+	1	0	NPR2	35784092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.823000	0.75282	2.275000	0.75901	0.655000	0.94253	GCC		0.577	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			12	11	1	0	2.81e-09	3.55e-09	12	11				
TRPM6	140803	broad.mit.edu	37	9	77411725	77411725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:77411725G>A	ENST00000360774.1	-	18	2560	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q770*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.Q775*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q775*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q770*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	775					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGGAAGTCCTGGGACTGGGGA	0.368																																						uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(2323-2325)CAG>TAG		transient receptor potential cation channel,							139.0	131.0	134.0					9																	77411725		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77411725G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2323C>T	9.37:g.77411725G>A	ENSP00000354006:p.Gln775*					TRPM6_uc004ajk.1_Nonsense_Mutation_p.Q770*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Nonsense_Mutation_p.Q153*	p.Q775*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			18	2561	-			775			Extracellular (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.2323C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	41	8.669832	0.98908	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.67	5.67	0.87782	.	0.231074	0.45867	D	0.000324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	.	.	.	X	775;775;770;770;775;438;438	.	ENSP00000309693:Q438X	Q	-	1	0	TRPM6	76601545	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.641000	0.74324	2.687000	0.91594	0.655000	0.94253	CAG		0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		22	122	0	0	0	0	22	122				
FAM120AOS	158293	broad.mit.edu	37	9	96209968	96209968	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:96209968G>A	ENST00000375412.5	-	3	1578	c.696C>T	c.(694-696)agC>agT	p.S232S	FAM120AOS_ENST00000479094.1_5'UTR|FAM120AOS_ENST00000423591.1_Silent_p.S50S	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	232										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						TGACAGAACAGCTTCTGGAAA	0.333																																						uc004atu.3		NA																	0					0						c.(694-696)AGC>AGT		hypothetical protein LOC158293							173.0	164.0	167.0					9																	96209968		2203	4300	6503	SO:0001819	synonymous_variant	158293							g.chr9:96209968G>A	AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.696C>T	9.37:g.96209968G>A						FAM120AOS_uc004atm.2_Intron|FAM120AOS_uc004atn.3_RNA|FAM120AOS_uc004ato.3_RNA|FAM120AOS_uc004atp.3_RNA|FAM120AOS_uc004atq.3_RNA|FAM120AOS_uc004atr.3_RNA|FAM120AOS_uc004ats.3_RNA|FAM120AOS_uc004att.3_RNA	p.S232S	NM_198841	NP_942138	Q5T036	F120S_HUMAN			3	1579	-			232					A6NN20	Silent	SNP	ENST00000375412.5	37	c.696C>T	CCDS6705.1																																																																																				0.333	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1			14	99	0	0	0	0	14	99				
TLR4	7099	broad.mit.edu	37	9	120470933	120470933	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:120470933C>T	ENST00000355622.6	+	2	287	c.186C>T	c.(184-186)agC>agT	p.S62S	RNU6-1082P_ENST00000364574.1_RNA|TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.S22S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	62					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGGACCTGAGCTTTAATCCCC	0.443																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(184-186)AGC>AGT		toll-like receptor 4 precursor							157.0	160.0	159.0					9																	120470933		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120470933C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.186C>T	9.37:g.120470933C>T						TLR4_uc004bka.2_Silent_p.S22S|TLR4_uc004bkb.2_Intron	p.S62S	NM_138554	NP_612564	O00206	TLR4_HUMAN			2	477	+			62			LRR 1.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.186C>T	CCDS6818.1																																																																																				0.443	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		16	121	0	0	0	0	16	121				
TLR4	7099	broad.mit.edu	37	9	120474751	120474751	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:120474751G>T	ENST00000355622.6	+	3	446	c.345G>T	c.(343-345)caG>caT	p.Q115H	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Q75H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	115					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACCCCATCCAGAGTTTAGCCC	0.453																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(343-345)CAG>CAT		toll-like receptor 4 precursor							55.0	57.0	56.0					9																	120474751		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474751G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.345G>T	9.37:g.120474751G>T	ENSP00000363089:p.Gln115His					TLR4_uc004bka.2_Missense_Mutation_p.Q75H|TLR4_uc004bkb.2_5'UTR	p.Q115H	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	636	+			115			LRR 3.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.345G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162497	0.38217	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.57907	0.37;5.49	5.35	1.32	0.21799	.	0.466100	0.20200	N	0.097106	T	0.48077	0.1480	N	0.20483	0.58	0.09310	N	0.999999	D	0.58620	0.983	P	0.58172	0.834	T	0.38265	-0.9669	10	0.54805	T	0.06	.	8.8396	0.35133	0.3186:0.0:0.6814:0.0	.	115	O00206	TLR4_HUMAN	H	75;115	ENSP00000377997:Q75H;ENSP00000363089:Q115H	ENSP00000363089:Q115H	Q	+	3	2	TLR4	119514572	0.002000	0.14202	0.095000	0.20976	0.423000	0.31445	0.991000	0.29654	0.207000	0.20607	-0.136000	0.14681	CAG		0.453	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		40	33	1	0	1.97e-18	2.74e-18	40	33				
BRINP1	1620	broad.mit.edu	37	9	122004443	122004443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:122004443G>T	ENST00000265922.3	-	4	922	c.461C>A	c.(460-462)tCa>tAa	p.S154*	BRINP1_ENST00000373964.2_Nonsense_Mutation_p.S154*	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	154	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGCATTCCCTGACTTCCTGTC	0.478																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(460-462)TCA>TAA		deleted in bladder cancer 1 precursor							151.0	121.0	131.0					9																	122004443		2203	4300	6503	SO:0001587	stop_gained	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122004443G>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.461C>A	9.37:g.122004443G>T	ENSP00000265922:p.Ser154*					DBC1_uc004bkd.2_Nonsense_Mutation_p.S154*	p.S154*	NM_014618	NP_055433	O60477	DBC1_HUMAN			4	917	-			154			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Nonsense_Mutation	SNP	ENST00000265922.3	37	c.461C>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	41	8.779796	0.98950	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	.	.	.	5.64	5.64	0.86602	.	0.134396	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4277	20.0666	0.97706	0.0:0.0:1.0:0.0	.	.	.	.	X	154	.	ENSP00000265922:S154X	S	-	2	0	DBC1	121044264	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.834000	0.69361	2.826000	0.97356	0.561000	0.74099	TCA		0.478	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		38	18	1	0	6.2e-25	8.92e-25	38	18				
FNBP1	23048	broad.mit.edu	37	9	132658199	132658199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:132658199C>T	ENST00000446176.2	-	16	1950	c.1764G>A	c.(1762-1764)tgG>tgA	p.W588*	FNBP1_ENST00000355681.3_Nonsense_Mutation_p.W559*|FNBP1_ENST00000443566.2_Nonsense_Mutation_p.W216*|FNBP1_ENST00000420781.1_Nonsense_Mutation_p.W579*	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	588	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GAATGCGGGTCCAGCCATCGC	0.413			T	MLL	AML																																	uc004byw.1		NA		Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0					0						c.(1762-1764)TGG>TGA		formin binding protein 1							112.0	104.0	106.0					9																	132658199		1916	4128	6044	SO:0001587	stop_gained	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132658199C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1764G>A	9.37:g.132658199C>T	ENSP00000413625:p.Trp588*					FNBP1_uc011mbv.1_Nonsense_Mutation_p.W578*|FNBP1_uc011mbw.1_Nonsense_Mutation_p.W583*|FNBP1_uc004bza.2_Nonsense_Mutation_p.W522*|FNBP1_uc004byz.1_Nonsense_Mutation_p.W559*|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Nonsense_Mutation_p.W216*|FNBP1_uc004byx.1_Nonsense_Mutation_p.W504*|FNBP1_uc004byy.1_Nonsense_Mutation_p.W494*	p.W588*	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	16	1983	-		Ovarian(14;0.000536)	588			Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Nonsense_Mutation	SNP	ENST00000446176.2	37	c.1764G>A	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.129520|7.129520	0.98085|0.98085	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681	.|.	.|.	.|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.45538|.	0.1347|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39313|.	-0.9620|.	3|.	.|0.02654	.|T	.|1	-17.3916|-17.3916	17.8863|17.8863	0.88855|0.88855	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	540|588;588;579;588;216;559	.|.	.|ENSP00000347907:W559X	G|W	-|-	2|3	0|0	FNBP1|FNBP1	131698020|131698020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	7.445000|7.445000	0.80570|0.80570	2.538000|2.538000	0.85594|0.85594	0.561000|0.561000	0.74099|0.74099	GGA|TGG		0.413	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			27	32	0	0	0	0	27	32				
MXRA5	25878	broad.mit.edu	37	X	3235195	3235195	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:3235195G>T	ENST00000217939.6	-	6	6681	c.6527C>A	c.(6526-6528)cCg>cAg	p.P2176Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2176	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGATGCGCGGCCAGGGGTC	0.677																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6526-6528)CCG>CAG		adlican precursor							16.0	14.0	14.0					X																	3235195		2198	4287	6485	SO:0001583	missense	25878					extracellular region		g.chrX:3235195G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6527C>A	X.37:g.3235195G>T	ENSP00000217939:p.Pro2176Gln						p.P2176Q	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6684	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2176			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6527C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572885	0.45798	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.73469	-0.75	3.34	3.34	0.38264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34700	U	0.003751	D	0.91246	0.7241	H	0.98818	4.34	0.51767	D	0.999937	D	0.76494	0.999	D	0.72625	0.978	D	0.94537	0.7741	10	0.87932	D	0	.	14.529	0.67912	0.0:0.0:1.0:0.0	.	2176	Q9NR99	MXRA5_HUMAN	Q	2176	ENSP00000217939:P2176Q	ENSP00000217939:P2176Q	P	-	2	0	MXRA5	3245195	1.000000	0.71417	0.991000	0.47740	0.429000	0.31625	8.363000	0.90103	1.284000	0.44531	0.597000	0.82753	CCG		0.677	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	7	1	0	8.13e-05	9e-05	5	7				
GPR143	4935	broad.mit.edu	37	X	9707605	9707605	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:9707605G>T	ENST00000467482.1	-	8	1186	c.1040C>A	c.(1039-1041)cCc>cAc	p.P347H	GPR143_ENST00000380929.2_Missense_Mutation_p.P367H|GPR143_ENST00000487206.1_5'UTR			P51810	GP143_HUMAN	G protein-coupled receptor 143	347					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GTTTTCATGGGGCATCAGTGG	0.582																																						uc004cst.1		NA																	0				ovary(1)	1						c.(1099-1101)CCC>CAC		G protein-coupled receptor 143							54.0	44.0	48.0					X																	9707605		2203	4299	6502	SO:0001583	missense	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9707605G>T	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.1040C>A	X.37:g.9707605G>T	ENSP00000417161:p.Pro347His						p.P367H	NM_000273	NP_000264	P51810	GP143_HUMAN			8	1100	-		Hepatocellular(5;0.000888)	347			Cytoplasmic (Potential).		Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	c.1100C>A	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	g	14.19	2.460722	0.43736	.	.	ENSG00000101850	ENST00000467482;ENST00000380929	D;D	0.99483	-5.99;-5.99	4.69	1.24	0.21308	.	0.438111	0.25469	N	0.030455	D	0.98601	0.9532	M	0.62723	1.935	0.09310	N	1	P	0.51147	0.942	P	0.54544	0.755	D	0.95964	0.8964	10	0.40728	T	0.16	-9.7695	3.2005	0.06647	0.1053:0.1276:0.5173:0.2497	.	347	P51810	GP143_HUMAN	H	347;367	ENSP00000417161:P347H;ENSP00000370316:P367H	ENSP00000370316:P367H	P	-	2	0	GPR143	9667605	0.330000	0.24705	0.001000	0.08648	0.007000	0.05969	2.320000	0.43797	0.344000	0.23847	0.597000	0.82753	CCC		0.582	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		9	18	1	0	0.000673444	0.000721754	9	18				
HCCS	3052	broad.mit.edu	37	X	11139818	11139818	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:11139818G>T	ENST00000321143.4	+	7	897	c.695G>T	c.(694-696)gGt>gTt	p.G232V	HCCS_ENST00000380762.4_Missense_Mutation_p.G232V|HCCS_ENST00000380763.3_Missense_Mutation_p.G232V|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	232					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						TATGATGGTGGTGAAGTCAAC	0.448																																					Ovarian(86;1338 1347 1462 10340 37882)	uc004cuk.2		NA																	0					0						c.(694-696)GGT>GTT		holocytochrome c synthase							192.0	156.0	168.0					X																	11139818		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139818G>T		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.695G>T	X.37:g.11139818G>T	ENSP00000326579:p.Gly232Val					HCCS_uc004cuj.2_Missense_Mutation_p.G232V|HCCS_uc004cul.1_Missense_Mutation_p.G232V	p.G232V	NM_005333	NP_005324	P53701	CCHL_HUMAN			7	961	+			232					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.695G>T	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388830	0.82902	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.82711	-1.64;-1.64;-1.64	6.05	6.05	0.98169	.	0.150930	0.64402	D	0.000017	D	0.90988	0.7166	M	0.80982	2.52	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.89868	0.4021	10	0.35671	T	0.21	-25.0457	16.7492	0.85481	0.0:0.0:1.0:0.0	.	232	P53701	CCHL_HUMAN	V	232	ENSP00000326579:G232V;ENSP00000370140:G232V;ENSP00000370139:G232V	ENSP00000326579:G232V	G	+	2	0	HCCS	11049739	1.000000	0.71417	0.017000	0.16124	0.938000	0.57974	9.239000	0.95389	2.565000	0.86533	0.594000	0.82650	GGT		0.448	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			30	90	1	0	1.14e-28	1.65e-28	30	90				
PIR	8544	broad.mit.edu	37	X	15497928	15497928	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:15497928G>T	ENST00000380421.3	-	3	573	c.113C>A	c.(112-114)cCg>cAg	p.P38Q	BMX_ENST00000357607.2_Intron|PIR_ENST00000380420.5_Missense_Mutation_p.P38Q|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	38					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CAGTAAAAACGGATCCAGATT	0.343																																					Ovarian(180;1587 2015 10555 34192 51653)	uc004cwu.2		NA																	0				ovary(1)	1						c.(112-114)CCG>CAG		pirin							53.0	49.0	50.0					X																	15497928		2202	4298	6500	SO:0001583	missense	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15497928G>T	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.113C>A	X.37:g.15497928G>T	ENSP00000369786:p.Pro38Gln					PIR_uc004cwv.2_Missense_Mutation_p.P38Q|BMX_uc004cww.2_Intron	p.P38Q	NM_003662	NP_003653	O00625	PIR_HUMAN			3	351	-	Hepatocellular(33;0.183)		38					Q5U0G0|Q6FHD2	Missense_Mutation	SNP	ENST00000380421.3	37	c.113C>A	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	g	15.43	2.832730	0.50845	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.55930	0.49;0.49	5.24	5.24	0.73138	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);Pirin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92184	0.5754	10	0.87932	D	0	-1.1593	15.1571	0.72752	0.0:0.0:1.0:0.0	.	38	O00625	PIR_HUMAN	Q	38	ENSP00000369785:P38Q;ENSP00000369786:P38Q	ENSP00000369785:P38Q	P	-	2	0	PIR	15407849	1.000000	0.71417	0.959000	0.39883	0.091000	0.18340	7.968000	0.87980	2.168000	0.68352	0.540000	0.68198	CCG		0.343	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662		9	35	1	0	7.48e-07	8.87e-07	9	35				
BEND2	139105	broad.mit.edu	37	X	18220019	18220019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:18220019C>T	ENST00000380033.4	-	6	1081	c.949G>A	c.(949-951)Gag>Aag	p.E317K	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	317										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTCGCTGTCTCAGTGCTGTTT	0.363																																						uc004cyj.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(949-951)GAG>AAG		BEN domain containing 2							237.0	186.0	203.0					X																	18220019		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18220019C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.949G>A	X.37:g.18220019C>T	ENSP00000369372:p.Glu317Lys					BEND2_uc010nfb.2_Intron	p.E317K	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			6	1103	-			317					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.949G>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	-	13.20	2.165897	0.38217	.	.	ENSG00000177324	ENST00000380033	T	0.27557	1.66	3.36	0.537	0.17144	.	.	.	.	.	T	0.14485	0.0350	N	0.17082	0.46	0.09310	N	1	B	0.32781	0.384	B	0.27262	0.078	T	0.17048	-1.0382	9	0.44086	T	0.13	.	3.3745	0.07233	0.0:0.5224:0.214:0.2636	.	317	Q8NDZ0	BEND2_HUMAN	K	317	ENSP00000369372:E317K	ENSP00000369372:E317K	E	-	1	0	BEND2	18129940	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.224000	0.02959	-0.005000	0.14395	0.411000	0.27672	GAG		0.363	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		31	86	0	0	0	0	31	86				
PHKA2	5256	broad.mit.edu	37	X	18911701	18911701	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:18911701C>A	ENST00000379942.4	-	33	4275	c.3610G>T	c.(3610-3612)Gct>Tct	p.A1204S	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1204					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCACTCGGAGCGCTGTCATAA	0.522																																						uc004cyv.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3610-3612)GCT>TCT		phosphorylase kinase, alpha 2 (liver)							190.0	184.0	186.0					X																	18911701		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18911701C>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3610G>T	X.37:g.18911701C>A	ENSP00000369274:p.Ala1204Ser					uc004cyt.2_Intron|PHKA2_uc004cyu.3_Missense_Mutation_p.A510S	p.A1204S	NM_000292	NP_000283	P46019	KPB2_HUMAN			33	4040	-	Hepatocellular(33;0.183)		1204					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3610G>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189676	0.78789	.	.	ENSG00000044446	ENST00000379942	D	0.94793	-3.52	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97476	0.9174	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.97225	0.9880	10	0.51188	T	0.08	-15.9757	19.5561	0.95349	0.0:1.0:0.0:0.0	.	1204	P46019	KPB2_HUMAN	S	1204	ENSP00000369274:A1204S	ENSP00000369274:A1204S	A	-	1	0	PHKA2	18821622	1.000000	0.71417	0.680000	0.29994	0.251000	0.25915	7.400000	0.79949	2.574000	0.86865	0.600000	0.82982	GCT		0.522	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		59	164	1	0	3.4e-24	4.88e-24	59	164				
KLHL34	257240	broad.mit.edu	37	X	21674708	21674708	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21674708G>T	ENST00000379499.2	-	1	1740	c.1199C>A	c.(1198-1200)cCg>cAg	p.P400Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	400						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGGAAGCGCGGGTCGTAACG	0.706																																						uc004czz.1		NA																	0				ovary(1)	1						c.(1198-1200)CCG>CAG		kelch-like 34							12.0	10.0	10.0					X																	21674708		2171	4195	6366	SO:0001583	missense	257240							g.chrX:21674708G>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1199C>A	X.37:g.21674708G>T	ENSP00000368813:p.Pro400Gln						p.P400Q	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1741	-			400			Kelch 2.			Missense_Mutation	SNP	ENST00000379499.2	37	c.1199C>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	g	15.69	2.908354	0.52333	.	.	ENSG00000185915	ENST00000379499	D	0.81659	-1.52	4.67	4.67	0.58626	Kelch-type beta propeller (1);	0.124521	0.53938	D	0.000043	D	0.92084	0.7491	M	0.93594	3.435	0.54753	D	0.999984	D	0.76494	0.999	D	0.73708	0.981	D	0.94374	0.7598	10	0.87932	D	0	.	16.8379	0.85961	0.0:0.0:1.0:0.0	.	400	Q8N239	KLH34_HUMAN	Q	400	ENSP00000368813:P400Q	ENSP00000368813:P400Q	P	-	2	0	KLHL34	21584629	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	9.230000	0.95299	2.151000	0.67156	0.411000	0.27672	CCG		0.706	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		5	14	1	0	0.000602214	0.000647272	5	14				
KLHL34	257240	broad.mit.edu	37	X	21675186	21675186	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21675186C>A	ENST00000379499.2	-	1	1262	c.721G>T	c.(721-723)Ggc>Tgc	p.G241C		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	241						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AGCACGAGGCCAGAGCCCGAG	0.677																																						uc004czz.1		NA																	0				ovary(1)	1						c.(721-723)GGC>TGC		kelch-like 34							18.0	18.0	18.0					X																	21675186		2198	4286	6484	SO:0001583	missense	257240							g.chrX:21675186C>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.721G>T	X.37:g.21675186C>A	ENSP00000368813:p.Gly241Cys						p.G241C	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1263	-			241						Missense_Mutation	SNP	ENST00000379499.2	37	c.721G>T	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	6.381	0.438460	0.12104	.	.	ENSG00000185915	ENST00000379499	T	0.72835	-0.69	4.65	4.65	0.58169	.	0.298284	0.34088	N	0.004276	T	0.55178	0.1904	N	0.22421	0.69	0.37631	D	0.921679	P	0.35383	0.498	B	0.26614	0.071	T	0.62859	-0.6765	10	0.39692	T	0.17	.	16.8166	0.85735	0.0:1.0:0.0:0.0	.	241	Q8N239	KLH34_HUMAN	C	241	ENSP00000368813:G241C	ENSP00000368813:G241C	G	-	1	0	KLHL34	21585107	1.000000	0.71417	0.107000	0.21349	0.049000	0.14656	4.409000	0.59768	2.145000	0.66743	0.422000	0.28245	GGC		0.677	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		9	25	1	0	9.7e-10	1.24e-09	9	25				
SMS	6611	broad.mit.edu	37	X	21995233	21995233	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21995233C>A	ENST00000404933.2	+	5	636	c.384C>A	c.(382-384)gaC>gaA	p.D128E	SMS_ENST00000379404.1_Missense_Mutation_p.D75E|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_Missense_Mutation_p.D32E	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	128	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CCACCGCCGACGGGCGCCTGG	0.428																																						uc004dag.2		NA																	0				ovary(1)	1						c.(382-384)GAC>GAA		spermine synthase	Spermine(DB00127)						60.0	62.0	62.0					X																	21995233		2203	4300	6503	SO:0001583	missense	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:21995233C>A	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.384C>A	X.37:g.21995233C>A	ENSP00000385746:p.Asp128Glu					SMS_uc011mjq.1_Missense_Mutation_p.D32E|SMS_uc004daf.1_Missense_Mutation_p.D75E|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank	p.D128E	NM_004595	NP_004586	P52788	SPSY_HUMAN			5	485	+			128					A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	c.384C>A	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.268313	0.40095	.	.	ENSG00000102172	ENST00000404933;ENST00000379404;ENST00000415881	T;T;T	0.76968	-1.06;-1.06;-1.06	5.73	-4.01	0.04045	.	0.000000	0.85682	D	0.000000	D	0.84772	0.5546	M	0.79011	2.435	0.53688	D	0.999972	D;D	0.65815	0.995;0.985	D;P	0.79108	0.992;0.815	T	0.82329	-0.0511	10	0.45353	T	0.12	-7.3579	14.1863	0.65607	0.0:0.4878:0.0:0.5122	.	128;75	P52788;P52788-2	SPSY_HUMAN;.	E	128;75;32	ENSP00000385746:D128E;ENSP00000368714:D75E;ENSP00000388906:D32E	ENSP00000368714:D75E	D	+	3	2	SMS	21905154	0.947000	0.32204	0.118000	0.21660	0.013000	0.08279	0.020000	0.13466	-1.454000	0.01926	-1.194000	0.01681	GAC		0.428	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		27	60	1	0	7.42e-09	9.28e-09	27	60				
MAGEB3	4114	broad.mit.edu	37	X	30254265	30254265	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:30254265T>C	ENST00000361644.2	+	5	961	c.224T>C	c.(223-225)gTa>gCa	p.V75A		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	75										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ACTACATCTGTAGATGTTTCT	0.458																																						uc004dca.1		NA																	0					0						c.(223-225)GTA>GCA		melanoma antigen family B, 3							29.0	26.0	27.0					X																	30254265		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254265T>C	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.224T>C	X.37:g.30254265T>C	ENSP00000355198:p.Val75Ala						p.V75A	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	961	+			75					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.224T>C	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.710506	0.00712	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.03860	3.78;3.78	3.96	-7.93	0.01156	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.00936	0.0031	N	0.00873	-1.125	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.35500	-0.9786	9	0.02654	T	1	.	1.2456	0.01972	0.3267:0.3338:0.1107:0.2288	.	75	O15480	MAGB3_HUMAN	A	75	ENSP00000368271:V75A;ENSP00000355198:V75A	ENSP00000355198:V75A	V	+	2	0	MAGEB3	30164186	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.283000	0.01155	-2.372000	0.00601	-1.277000	0.01392	GTA		0.458	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		12	20	0	0	0	0	12	20				
DMD	1756	broad.mit.edu	37	X	31165577	31165577	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:31165577G>T	ENST00000357033.4	-	75	10818	c.10612C>A	c.(10612-10614)Cca>Aca	p.P3538T	DMD_ENST00000378702.4_Missense_Mutation_p.P470T|DMD_ENST00000378677.2_Missense_Mutation_p.P3534T|DMD_ENST00000343523.2_Missense_Mutation_p.P968T|DMD_ENST00000378680.2_Missense_Mutation_p.P360T|DMD_ENST00000361471.4_Missense_Mutation_p.P457T|DMD_ENST00000541735.1_Missense_Mutation_p.P968T|DMD_ENST00000474231.1_Missense_Mutation_p.P1078T|DMD_ENST00000378723.3_Missense_Mutation_p.P470T|DMD_ENST00000378707.3_Missense_Mutation_p.P1078T|DMD_ENST00000359836.1_Missense_Mutation_p.P1065T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3538					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GACGGCAGTGGGGACAGGCCT	0.493																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(10612-10614)CCA>ACA		dystrophin Dp427m isoform							62.0	43.0	50.0					X																	31165577		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31165577G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10612C>A	X.37:g.31165577G>T	ENSP00000354923:p.Pro3538Thr					DMD_uc004dcq.1_Missense_Mutation_p.P809T|DMD_uc004dcr.1_Missense_Mutation_p.P958T|DMD_uc004dcs.1_Missense_Mutation_p.P968T|DMD_uc004dct.1_Missense_Mutation_p.P1078T|DMD_uc004dcu.1_Missense_Mutation_p.P1078T|DMD_uc004dcv.1_Missense_Mutation_p.P1065T|DMD_uc004dcw.2_Missense_Mutation_p.P2194T|DMD_uc004dcx.2_Missense_Mutation_p.P2197T|DMD_uc004dcz.2_Missense_Mutation_p.P3415T|DMD_uc004dcy.1_Missense_Mutation_p.P3534T|DMD_uc004ddb.1_Missense_Mutation_p.P3530T|DMD_uc004dcm.1_Missense_Mutation_p.P470T|DMD_uc004dcn.1_Missense_Mutation_p.P457T|DMD_uc004dco.1_Missense_Mutation_p.P470T|DMD_uc004dcp.1_Missense_Mutation_p.P457T|DMD_uc011mkb.1_Missense_Mutation_p.P360T	p.P3538T	NM_004006	NP_003997	P11532	DMD_HUMAN			75	10856	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3538					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10612C>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.425056|4.425056	0.83667|0.83667	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.68331	.|2.1;3.76;-0.32;-0.32;3.7;3.72;3.67;3.68;2.09;3.73;2.1;2.12	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	0.000000|0.000000	0.34777|0.34777	U|U	0.003694|0.003694	T|T	0.81758|0.81758	0.4890|0.4890	M|M	0.79926|0.79926	2.475|2.475	0.38492|0.38492	D|D	0.947999|0.947999	.|D;D;D;D;D;D;D;D;D;B;B;D;P;P;P;P	.|0.89917	.|0.999;0.987;1.0;0.997;0.999;0.999;0.989;0.991;0.991;0.083;0.135;1.0;0.902;0.749;0.749;0.651	.|D;P;D;D;D;D;D;P;P;B;B;D;B;B;B;B	.|0.83275	.|0.991;0.85;0.996;0.915;0.941;0.941;0.931;0.889;0.889;0.05;0.109;0.99;0.442;0.269;0.339;0.165	T|T	0.82764|0.82764	-0.0296|-0.0296	6|10	.|0.30854	.|T	.|0.27	.|.	16.7086|16.7086	0.85379|0.85379	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|360;3530;3538;3534;2197;2194;1065;1078;1078;968;968;3415;457;470;457;470	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	H|T	1266|3530;2197;2194;470;1221;3534;3538;1065;968;3538;3415;1078;968;470;1078;457;360	.|ENSP00000367997:P470T;ENSP00000350765:P1221T;ENSP00000367948:P3534T;ENSP00000354923:P3538T;ENSP00000352894:P1065T;ENSP00000340057:P968T;ENSP00000367979:P1078T;ENSP00000444119:P968T;ENSP00000367974:P470T;ENSP00000417123:P1078T;ENSP00000354464:P457T;ENSP00000367951:P360T	.|ENSP00000340057:P968T	P|P	-|-	2|1	0|0	DMD|DMD	31075498|31075498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.700000|7.700000	0.84556|0.84556	2.118000|2.118000	0.64928|0.64928	0.513000|0.513000	0.50165|0.50165	CCC|CCA		0.493	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		11	28	1	0	4.69e-08	5.77e-08	11	28				
NDP	4693	broad.mit.edu	37	X	43817843	43817843	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:43817843C>T	ENST00000378062.5	-	2	456	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	17					canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						CCCATTATCACCAGCAGGGAG	0.458																																						uc004dga.3		NA																	0					0						c.(49-51)GTG>ATG		norrin precursor							209.0	149.0	170.0					X																	43817843		2203	4300	6503	SO:0001583	missense	4693				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity	g.chrX:43817843C>T	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.49G>A	X.37:g.43817843C>T	ENSP00000367301:p.Val17Met						p.V17M	NM_000266	NP_000257	Q00604	NDP_HUMAN			2	628	-			17					B2R8K6|Q5JYH5	Missense_Mutation	SNP	ENST00000378062.5	37	c.49G>A	CCDS14262.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543183	0.45280	.	.	ENSG00000124479	ENST00000378062	D	0.98968	-5.28	5.81	5.81	0.92471	.	0.124327	0.52532	D	0.000064	D	0.96137	0.8741	N	0.14661	0.345	0.26144	N	0.980232	B	0.21309	0.054	B	0.23419	0.046	D	0.89623	0.3850	10	0.59425	D	0.04	-2.8722	18.9712	0.92715	0.0:1.0:0.0:0.0	.	17	Q00604	NDP_HUMAN	M	17	ENSP00000367301:V17M	ENSP00000367301:V17M	V	-	1	0	NDP	43702787	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	2.516000	0.45520	2.428000	0.82296	0.600000	0.82982	GTG		0.458	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		18	24	0	0	0	0	18	24				
AMER1	139285	broad.mit.edu	37	X	63412151	63412151	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:63412151C>A	ENST00000330258.3	-	2	1288	c.1016G>T	c.(1015-1017)aGt>aTt	p.S339I	AMER1_ENST00000403336.1_Missense_Mutation_p.S339I|AMER1_ENST00000374869.3_Missense_Mutation_p.S339I	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	339					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GTCTGTCATACTGTCCATGTC	0.537																																						uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(1015-1017)AGT>ATT		family with sequence similarity 123B							173.0	149.0	157.0					X																	63412151		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412151C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1016G>T	X.37:g.63412151C>A	ENSP00000329117:p.Ser339Ile						p.S339I	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	1289	-			339					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1016G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126737	0.56721	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.43688	0.94;0.94;0.94	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.62723	1.935	0.43485	D	0.995719	D	0.58620	0.983	P	0.57204	0.815	T	0.58042	-0.7706	10	0.87932	D	0	-10.6791	12.384	0.55323	0.0:0.8348:0.1652:0.0	.	339	Q5JTC6	F123B_HUMAN	I	339	ENSP00000364003:S339I;ENSP00000329117:S339I;ENSP00000384722:S339I	ENSP00000329117:S339I	S	-	2	0	FAM123B	63328876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.596000	0.54024	2.566000	0.86566	0.529000	0.55759	AGT		0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		86	119	1	0	4.87e-31	7.06e-31	86	119				
DLG3	1741	broad.mit.edu	37	X	69699025	69699025	+	Silent	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:69699025A>T	ENST00000374360.3	+	10	1664	c.1431A>T	c.(1429-1431)atA>atT	p.I477I	DLG3_ENST00000542398.1_5'UTR|DLG3_ENST00000194900.4_Silent_p.I495I|DLG3_ENST00000374355.3_Silent_p.I140I	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	477					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AATCGAAGATACATGACTTAC	0.483																																						uc004dyi.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1429-1431)ATA>ATT		synapse-associated protein 102 isoform a							172.0	151.0	158.0					X																	69699025		2203	4300	6503	SO:0001819	synonymous_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69699025A>T	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1431A>T	X.37:g.69699025A>T						DLG3_uc004dyj.1_Silent_p.I140I|DLG3_uc011mpn.1_5'UTR	p.I477I	NM_021120	NP_066943	Q92796	DLG3_HUMAN			10	1759	+	Renal(35;0.156)		477					B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	ENST00000374360.3	37	c.1431A>T	CCDS14403.1																																																																																				0.483	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		37	112	0	0	0	0	37	112				
MAGEE1	57692	broad.mit.edu	37	X	75648802	75648802	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:75648802C>T	ENST00000361470.2	+	1	757	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	160	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCTGAGGTACCGAGCACCTCC	0.682																																						uc004ecm.1		NA																	0				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(478-480)CCG>CTG		melanoma antigen family E, 1																																				SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648802C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.479C>T	X.37:g.75648802C>T	ENSP00000354912:p.Pro160Leu						p.P160L	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	686	+			160			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.479C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	3.696	-0.062449	0.07273	.	.	ENSG00000198934	ENST00000361470	T	0.08008	3.14	1.96	-3.91	0.04168	.	.	.	.	.	T	0.04497	0.0123	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	9	0.22706	T	0.39	.	3.6861	0.08328	0.3297:0.4514:0.0:0.2189	.	160	Q9HCI5	MAGE1_HUMAN	L	160	ENSP00000354912:P160L	ENSP00000354912:P160L	P	+	2	0	MAGEE1	75565206	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.593000	0.02096	-1.636000	0.01533	0.521000	0.50471	CCG		0.682	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		12	46	0	0	0	0	12	46				
TBX22	50945	broad.mit.edu	37	X	79286015	79286015	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79286015C>T	ENST00000373294.5	+	8	996	c.968C>T	c.(967-969)tCt>tTt	p.S323F	TBX22_ENST00000373291.1_Missense_Mutation_p.S203F|TBX22_ENST00000373296.3_Missense_Mutation_p.S323F|TBX22_ENST00000442340.1_Missense_Mutation_p.S203F	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	323					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTGGCTCATCTCCAGTGACC	0.428																																						uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(967-969)TCT>TTT		T-box 22 isoform 1							98.0	92.0	94.0					X																	79286015		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286015C>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.968C>T	X.37:g.79286015C>T	ENSP00000362390:p.Ser323Phe					TBX22_uc004edi.1_Missense_Mutation_p.S203F|TBX22_uc004edj.1_Missense_Mutation_p.S323F	p.S323F	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1102	+			323					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.968C>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500590	0.64298	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.34	4.34	0.51931	.	0.362992	0.26692	N	0.022992	D	0.89574	0.6754	M	0.70275	2.135	0.52501	D	0.999951	D	0.76494	0.999	D	0.68192	0.956	D	0.90809	0.4700	10	0.66056	D	0.02	.	14.8795	0.70522	0.0:1.0:0.0:0.0	.	323	Q9Y458	TBX22_HUMAN	F	323;203;323;203	ENSP00000362393:S323F;ENSP00000396394:S203F;ENSP00000362390:S323F;ENSP00000362388:S203F	ENSP00000362388:S203F	S	+	2	0	TBX22	79172671	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	3.002000	0.49496	1.885000	0.54596	0.513000	0.50165	TCT		0.428	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		33	64	0	0	0	0	33	64				
FAM46D	169966	broad.mit.edu	37	X	79698469	79698469	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79698469G>T	ENST00000308293.5	+	3	670	c.431G>T	c.(430-432)tGg>tTg	p.W144L	FAM46D_ENST00000538312.1_Missense_Mutation_p.W144L	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	144										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CATGATTGTTGGAGTCTTATC	0.368																																						uc004edl.1		NA																	0				lung(2)	2						c.(430-432)TGG>TTG		hypothetical protein LOC169966							112.0	107.0	109.0					X																	79698469		2203	4299	6502	SO:0001583	missense	169966							g.chrX:79698469G>T	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.431G>T	X.37:g.79698469G>T	ENSP00000308575:p.Trp144Leu					FAM46D_uc004edm.1_Missense_Mutation_p.W144L	p.W144L	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN			5	765	+			144					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.431G>T	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832145	0.50845	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.26067	1.76;1.76	4.38	4.38	0.52667	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67428	-0.5673	10	0.87932	D	0	-3.3608	14.743	0.69469	0.0:0.0:1.0:0.0	.	144	Q8NEK8	FA46D_HUMAN	L	144	ENSP00000443410:W144L;ENSP00000308575:W144L	ENSP00000308575:W144L	W	+	2	0	FAM46D	79585125	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	9.234000	0.95347	2.025000	0.59659	0.538000	0.68166	TGG		0.368	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		48	100	1	0	2.62e-40	3.84e-40	48	100				
BRWD3	254065	broad.mit.edu	37	X	79947378	79947378	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79947378G>A	ENST00000373275.4	-	30	3641	c.3425C>T	c.(3424-3426)tCc>tTc	p.S1142F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1142					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCGTCTCTGGAATGAGCCCC	0.478																																						uc004edt.2		NA																	0				ovary(4)	4						c.(3424-3426)TCC>TTC		bromodomain and WD repeat domain containing 3							87.0	72.0	77.0					X																	79947378		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79947378G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3425C>T	X.37:g.79947378G>A	ENSP00000362372:p.Ser1142Phe					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.S738F|BRWD3_uc004edp.2_Missense_Mutation_p.S971F|BRWD3_uc004edq.2_Missense_Mutation_p.S738F|BRWD3_uc010nmj.1_Missense_Mutation_p.S738F|BRWD3_uc004edr.2_Missense_Mutation_p.S812F|BRWD3_uc004eds.2_Missense_Mutation_p.S738F|BRWD3_uc004edu.2_Missense_Mutation_p.S812F|BRWD3_uc004edv.2_Missense_Mutation_p.S738F|BRWD3_uc004edw.2_Missense_Mutation_p.S738F|BRWD3_uc004edx.2_Missense_Mutation_p.S738F|BRWD3_uc004edy.2_Missense_Mutation_p.S738F|BRWD3_uc004edz.2_Missense_Mutation_p.S812F|BRWD3_uc004eea.2_Missense_Mutation_p.S812F|BRWD3_uc004eeb.2_Missense_Mutation_p.S738F	p.S1142F	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			30	3688	-			1142					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.3425C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611327	0.87258	.	.	ENSG00000165288	ENST00000373275	T	0.19105	2.17	4.57	4.57	0.56435	Bromodomain (3);	0.055415	0.64402	D	0.000001	T	0.36276	0.0961	L	0.50333	1.59	0.52099	D	0.999945	D	0.63046	0.992	P	0.59056	0.851	T	0.05937	-1.0855	9	.	.	.	-6.3699	16.6791	0.85287	0.0:0.0:1.0:0.0	.	1142	Q6RI45	BRWD3_HUMAN	F	1142	ENSP00000362372:S1142F	.	S	-	2	0	BRWD3	79834034	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.110000	0.64415	0.523000	0.50628	TCC		0.478	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		11	26	0	0	0	0	11	26				
SH3BGRL	6451	broad.mit.edu	37	X	80532534	80532534	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:80532534G>T	ENST00000373212.5	+	2	355	c.97G>T	c.(97-99)Gga>Tga	p.G33*	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamate-rich protein like	33					positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				CAACAAAATAGGATTTGAAGA	0.398																																						uc004eef.2		NA																	0		p.G33G(1)		ovary(1)	1						c.(97-99)GGA>TGA		SH3 domain binding glutamic acid-rich protein							54.0	52.0	53.0					X																	80532534		2203	4300	6503	SO:0001587	stop_gained	6451					cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:80532534G>T	AF042081	CCDS14449.1	Xq13.3	2014-02-19	2014-02-19		ENSG00000131171	ENSG00000131171			10823	protein-coding gene	gene with protein product		300190	"""SH3 domain binding glutamic acid-rich protein like"""			9642120	Standard	NM_003022		Approved	MGC117402	uc004eef.3	O75368	OTTHUMG00000021910	ENST00000373212.5:c.97G>T	X.37:g.80532534G>T	ENSP00000362308:p.Gly33*					SH3BGRL_uc011mqs.1_RNA|SH3BGRL_uc010nml.2_RNA|SH3BGRL_uc010nmm.2_Nonsense_Mutation_p.G70*|SH3BGRL_uc010nmn.2_Nonsense_Mutation_p.G70*	p.G33*	NM_003022	NP_003013	O75368	SH3L1_HUMAN			2	494	+		all_lung(315;5.94e-05)	33					Q3SYL1|Q5JT50|Q6FIE8|Q9H0N8	Nonsense_Mutation	SNP	ENST00000373212.5	37	c.97G>T	CCDS14449.1	.	.	.	.	.	.	.	.	.	.	G	38	7.240242	0.98157	.	.	ENSG00000131171	ENST00000373212	.	.	.	5.7	4.84	0.62591	.	0.169822	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-12.9663	12.9094	0.58171	0.0797:0.0:0.9203:0.0	.	.	.	.	X	33	.	ENSP00000362308:G33X	G	+	1	0	SH3BGRL	80419190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.173000	0.77612	1.154000	0.42482	0.600000	0.82982	GGA		0.398	SH3BGRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057350.1	NM_003022		11	40	1	0	6.82e-15	9.26e-15	11	40				
DACH2	117154	broad.mit.edu	37	X	85404039	85404039	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:85404039C>G	ENST00000373125.4	+	1	415	c.415C>G	c.(415-417)Ccc>Gcc	p.P139A	DACH2_ENST00000373131.1_Missense_Mutation_p.P139A	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	139	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGCCATCCAGCCCGGGGTAAA	0.557																																						uc004eew.2		NA																	0				ovary(4)|pancreas(1)	5						c.(415-417)CCC>GCC		dachshund 2 isoform a							49.0	51.0	51.0					X																	85404039		2202	4300	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85404039C>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.415C>G	X.37:g.85404039C>G	ENSP00000362217:p.Pro139Ala					DACH2_uc004eex.2_Missense_Mutation_p.P139A|DACH2_uc010nmq.2_5'UTR	p.P139A	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			1	585	+			139			DACHbox-N.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.415C>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803215	0.70682	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.82893	-1.66;-1.66	4.5	4.5	0.54988	DNA binding domain, putative (1);Transforming protein Ski (2);	0.000000	0.50627	D	0.000116	D	0.88934	0.6572	M	0.77616	2.38	0.80722	D	1	D;D	0.61080	0.986;0.989	P;D	0.65573	0.894;0.936	D	0.86626	0.1882	10	0.09590	T	0.72	.	16.1211	0.81357	0.0:1.0:0.0:0.0	.	139;139	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	A	139	ENSP00000362223:P139A;ENSP00000362217:P139A	ENSP00000345134:P139A	P	+	1	0	DACH2	85290695	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	6.969000	0.76092	2.071000	0.62044	0.544000	0.68410	CCC		0.557	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		13	47	0	0	0	0	13	47				
DACH2	117154	broad.mit.edu	37	X	85994870	85994870	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:85994870C>A	ENST00000373125.4	+	7	1225	c.1225C>A	c.(1225-1227)Cat>Aat	p.H409N	DACH2_ENST00000373131.1_Missense_Mutation_p.H396N|DACH2_ENST00000508860.1_Missense_Mutation_p.H242N|DACH2_ENST00000510272.1_Missense_Mutation_p.H190N	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	409					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGGATCATCATTTGGAAAG	0.443																																						uc004eew.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1225-1227)CAT>AAT		dachshund 2 isoform a							63.0	50.0	54.0					X																	85994870		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85994870C>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1225C>A	X.37:g.85994870C>A	ENSP00000362217:p.His409Asn					DACH2_uc004eex.2_Missense_Mutation_p.H396N|DACH2_uc010nmq.2_Missense_Mutation_p.H275N|DACH2_uc011mra.1_Missense_Mutation_p.H242N|DACH2_uc010nmr.2_Missense_Mutation_p.H190N|DACH2_uc004eey.2_Missense_Mutation_p.H92N|DACH2_uc004eez.2_Missense_Mutation_p.H92N	p.H409N	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			7	1395	+			409					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1225C>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	8.262	0.811304	0.16537	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82526	-1.62;-1.62	4.98	4.02	0.46733	.	0.446447	0.21540	N	0.072918	T	0.66867	0.2833	N	0.14661	0.345	0.24087	N	0.995921	B;B;B;B	0.29037	0.231;0.028;0.019;0.039	B;B;B;B	0.23716	0.048;0.013;0.022;0.01	T	0.57510	-0.7799	10	0.34782	T	0.22	.	9.5704	0.39425	0.53:0.47:0.0:0.0	.	275;409;396;409	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	N	409;396;409;242;190;242;64	ENSP00000362223:H396N;ENSP00000362217:H409N	ENSP00000345134:H409N	H	+	1	0	DACH2	85881526	0.999000	0.42202	0.981000	0.43875	0.501000	0.33797	1.862000	0.39448	2.056000	0.61249	0.506000	0.49869	CAT		0.443	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		5	12	1	0	3.6e-05	4.04e-05	5	12				
DACH2	117154	broad.mit.edu	37	X	86067962	86067962	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:86067962T>G	ENST00000373125.4	+	8	1344	c.1344T>G	c.(1342-1344)ttT>ttG	p.F448L	DACH2_ENST00000373131.1_Missense_Mutation_p.F435L|DACH2_ENST00000508860.1_Missense_Mutation_p.F281L|DACH2_ENST00000510272.1_Missense_Mutation_p.F229L	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	448					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CATTCATTTTTGCTGATAGTC	0.423																																						uc004eew.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1342-1344)TTT>TTG		dachshund 2 isoform a							50.0	46.0	47.0					X																	86067962		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86067962T>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1344T>G	X.37:g.86067962T>G	ENSP00000362217:p.Phe448Leu					DACH2_uc004eex.2_Missense_Mutation_p.F435L|DACH2_uc010nmq.2_Missense_Mutation_p.F314L|DACH2_uc011mra.1_Missense_Mutation_p.F281L|DACH2_uc010nmr.2_Missense_Mutation_p.F229L|DACH2_uc004eey.2_Missense_Mutation_p.F131L|DACH2_uc004eez.2_Missense_Mutation_p.F131L	p.F448L	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			8	1514	+			448					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1344T>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046098	0.55110	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.83250	-1.67;-1.7	4.75	2.38	0.29361	.	0.081289	0.52532	N	0.000073	D	0.82875	0.5132	L	0.52126	1.63	0.41488	D	0.988208	P;P;D;B	0.61697	0.849;0.709;0.99;0.412	B;B;D;B	0.72982	0.39;0.318;0.979;0.084	T	0.78209	-0.2293	10	0.11182	T	0.66	.	3.7281	0.08482	0.1617:0.1766:0.0:0.6616	.	314;448;435;448	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	L	448;435;448;281;229;281;103	ENSP00000362223:F435L;ENSP00000362217:F448L	ENSP00000345134:F448L	F	+	3	2	DACH2	85954618	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.535000	0.36061	0.516000	0.28340	0.417000	0.27973	TTT		0.423	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		8	15	0	0	0	0	8	15				
NAP1L3	4675	broad.mit.edu	37	X	92928013	92928013	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:92928013C>T	ENST00000373079.3	-	1	554	c.291G>A	c.(289-291)gtG>gtA	p.V97V	FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.V90V|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	97					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCAGCCTATCCACGAAATTTG	0.517																																						uc004efq.2		NA																	0				ovary(1)|skin(1)	2						c.(289-291)GTG>GTA		nucleosome assembly protein 1-like 3							23.0	23.0	23.0					X																	92928013		2203	4289	6492	SO:0001819	synonymous_variant	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928013C>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.291G>A	X.37:g.92928013C>T						FAM133A_uc004efr.1_5'Flank	p.V97V	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	596	-			97					B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	c.291G>A	CCDS14465.1																																																																																				0.517	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		13	26	0	0	0	0	13	26				
DIAPH2	1730	broad.mit.edu	37	X	96220178	96220178	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:96220178G>T	ENST00000324765.8	+	17	2369	c.2022G>T	c.(2020-2022)ttG>ttT	p.L674F	DIAPH2_ENST00000373054.4_Missense_Mutation_p.L670F|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L674F|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L674F|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L674F			O60879	DIAP2_HUMAN	diaphanous-related formin 2	674	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTGCCAAATTGGCATTGAATT	0.303																																						uc004efu.3		NA																	0				ovary(3)|lung(1)	4						c.(2020-2022)TTG>TTT		diaphanous 2 isoform 156							37.0	33.0	34.0					X																	96220178		2203	4294	6497	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96220178G>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2022G>T	X.37:g.96220178G>T	ENSP00000321348:p.Leu674Phe					DIAPH2_uc004eft.3_Missense_Mutation_p.L674F	p.L674F	NM_006729	NP_006720	O60879	DIAP2_HUMAN			17	2418	+			674			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.2022G>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750215	0.49257	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.52	5.52	0.82312	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.51477	D	0.000098	T	0.46034	0.1372	M	0.77486	2.375	0.49130	D	0.999758	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.42982	-0.9419	10	0.51188	T	0.08	.	11.643	0.51244	0.0839:0.0:0.9161:0.0	.	674;674	O60879;O60879-2	DIAP2_HUMAN;.	F	674;670;674;674;674;681	ENSP00000362152:L674F;ENSP00000362145:L670F;ENSP00000348082:L674F;ENSP00000362140:L674F;ENSP00000321348:L674F	ENSP00000321348:L674F	L	+	3	2	DIAPH2	96106834	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	3.325000	0.52030	2.312000	0.78011	0.600000	0.82982	TTG		0.303	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		9	26	1	0	0.000274275	0.000297796	9	26				
DRP2	1821	broad.mit.edu	37	X	100486665	100486665	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:100486665C>T	ENST00000395209.3	+	3	556	c.29C>T	c.(28-30)cCt>cTt	p.P10L	DRP2_ENST00000538510.1_Missense_Mutation_p.P10L|DRP2_ENST00000402866.1_Missense_Mutation_p.P10L|DRP2_ENST00000541709.1_Intron	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	10					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGGGATGCCCTTACACCCTC	0.537																																						uc004egz.2		NA																	0				ovary(2)	2						c.(28-30)CCT>CTT		dystrophin related protein 2							195.0	157.0	170.0					X																	100486665		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100486665C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.29C>T	X.37:g.100486665C>T	ENSP00000378635:p.Pro10Leu					DRP2_uc011mrh.1_Intron	p.P10L	NM_001939	NP_001930	Q13474	DRP2_HUMAN			3	398	+			10					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.29C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	c	16.72	3.202170	0.58234	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.08102	3.13;3.13;3.13	5.82	5.82	0.92795	.	0.227356	0.31415	N	0.007696	T	0.11153	0.0272	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.02144	-1.1206	10	0.87932	D	0	-3.1234	14.4284	0.67233	0.0:0.9256:0.0:0.0744	.	10	Q13474	DRP2_HUMAN	L	10	ENSP00000385038:P10L;ENSP00000378635:P10L;ENSP00000441051:P10L	ENSP00000362007:P10L	P	+	2	0	DRP2	100373321	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.538000	0.53597	2.457000	0.83068	0.597000	0.82753	CCT		0.537	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		50	125	0	0	0	0	50	125				
ARMCX2	9823	broad.mit.edu	37	X	100911056	100911056	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:100911056C>G	ENST00000328766.5	-	5	1972	c.1519G>C	c.(1519-1521)Gtc>Ctc	p.V507L	ARMCX2_ENST00000330154.2_Missense_Mutation_p.V507L|ARMCX2_ENST00000356824.4_Missense_Mutation_p.V507L|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	507						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ATGGAATTGACAAGCAGGTGC	0.378																																						uc004eid.2		NA																	0				ovary(6)	6						c.(1519-1521)GTC>CTC		ALEX2 protein							118.0	118.0	118.0					X																	100911056		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911056C>G	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1519G>C	X.37:g.100911056C>G	ENSP00000331662:p.Val507Leu					ARMCX2_uc004eie.3_Missense_Mutation_p.V507L|ARMCX2_uc004eif.3_Missense_Mutation_p.V507L|ARMCX2_uc004eig.3_Missense_Mutation_p.V507L|ARMCX2_uc010nnt.2_Missense_Mutation_p.V507L	p.V507L	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	1874	-			507			ARM 3.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.1519G>C	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369863	0.42003	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.46819	0.86;0.86;0.86	3.91	3.91	0.45181	Armadillo-like helical (1);Armadillo-type fold (1);	0.303410	0.35708	N	0.003034	T	0.32526	0.0832	N	0.08118	0	0.31796	N	0.629086	P	0.42456	0.78	P	0.46389	0.515	T	0.35968	-0.9767	10	0.39692	T	0.17	-10.6635	10.3486	0.43920	0.0:1.0:0.0:0.0	.	507	Q7L311	ARMX2_HUMAN	L	507	ENSP00000331662:V507L;ENSP00000328631:V507L;ENSP00000349281:V507L	ENSP00000331662:V507L	V	-	1	0	ARMCX2	100797712	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.301000	0.43628	2.200000	0.70718	0.422000	0.28245	GTC		0.378	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		13	186	0	0	0	0	13	186				
MID2	11043	broad.mit.edu	37	X	107169922	107169922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:107169922C>A	ENST00000262843.6	+	10	2375	c.1827C>A	c.(1825-1827)taC>taA	p.Y609*	MID2_ENST00000443968.2_Nonsense_Mutation_p.Y579*|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	609	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.Y589*(1)|p.Y609*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCATTGCCTACAAATCAGCTC	0.393																																						uc004enl.2		NA																	2	Substitution - Nonsense(2)		breast(2)	ovary(1)	1						c.(1825-1827)TAC>TAA		midline 2 isoform 1							89.0	72.0	78.0					X																	107169922		2203	4300	6503	SO:0001587	stop_gained	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107169922C>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1827C>A	X.37:g.107169922C>A	ENSP00000262843:p.Tyr609*					MID2_uc004enk.2_Nonsense_Mutation_p.Y579*	p.Y609*	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			10	2400	+			609			B30.2/SPRY.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Nonsense_Mutation	SNP	ENST00000262843.6	37	c.1827C>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	41	8.794475	0.98956	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	.	.	.	5.35	2.62	0.31277	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0494	0.25065	0.0:0.6172:0.0:0.3828	.	.	.	.	X	609;579	.	ENSP00000262843:Y609X	Y	+	3	2	MID2	107056578	0.991000	0.36638	1.000000	0.80357	0.964000	0.63967	0.361000	0.20267	0.116000	0.18110	0.513000	0.50165	TAC		0.393	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		21	72	1	0	6.21e-17	8.58e-17	21	72				
COL4A5	1287	broad.mit.edu	37	X	107802347	107802347	+	Silent	SNP	A	A	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:107802347A>C	ENST00000361603.2	+	3	439	c.195A>C	c.(193-195)ccA>ccC	p.P65P	COL4A5_ENST00000328300.6_Silent_p.P65P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	65	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTGGATTTCCAGGTCCAGAAG	0.463									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(193-195)CCA>CCC		type IV collagen alpha 5 isoform 2 precursor							109.0	104.0	106.0					X																	107802347		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107802347A>C	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.195A>C	X.37:g.107802347A>C						COL4A5_uc011mso.1_Silent_p.P65P	p.P65P	NM_033380	NP_203699	P29400	CO4A5_HUMAN			3	397	+			65			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.195A>C	CCDS14543.1																																																																																				0.463	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			21	89	0	0	0	0	21	89				
KLHL13	90293	broad.mit.edu	37	X	117079426	117079426	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:117079426T>C	ENST00000262820.3	-	2	1120	c.211A>G	c.(211-213)Agc>Ggc	p.S71G	KLHL13_ENST00000371876.1_Missense_Mutation_p.S20G|KLHL13_ENST00000545703.1_Missense_Mutation_p.S29G|KLHL13_ENST00000540167.1_Missense_Mutation_p.S55G|KLHL13_ENST00000539496.1_Missense_Mutation_p.S74G|KLHL13_ENST00000371878.1_Missense_Mutation_p.S20G|KLHL13_ENST00000541812.1_Missense_Mutation_p.S55G|KLHL13_ENST00000371882.1_Missense_Mutation_p.S20G|KLHL13_ENST00000469946.1_Missense_Mutation_p.S20G	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	71					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGGGTATTGCTGGTAAAGATG	0.458																																						uc004eql.2		NA																	0				kidney(1)|skin(1)	2						c.(211-213)AGC>GGC		kelch-like 13							114.0	95.0	102.0					X																	117079426		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117079426T>C	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.211A>G	X.37:g.117079426T>C	ENSP00000262820:p.Ser71Gly					KLHL13_uc004eqk.2_Missense_Mutation_p.S20G|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.S65G|KLHL13_uc011mtp.1_Missense_Mutation_p.S73G|KLHL13_uc004eqm.2_Missense_Mutation_p.S20G|KLHL13_uc011mtq.1_Missense_Mutation_p.S55G	p.S71G	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN			2	273	-			71					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.211A>G	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244409	0.59103	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946;ENST00000453826	T;T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.09	5.09	0.68999	BTB/POZ fold (2);	0.077922	0.85682	D	0.000000	T	0.57388	0.2050	N	0.08118	0	0.58432	D	0.999998	B;B;B;B	0.32203	0.196;0.084;0.36;0.063	B;B;B;B	0.40534	0.112;0.084;0.332;0.088	T	0.63134	-0.6705	10	0.54805	T	0.06	.	13.0099	0.58725	0.0:0.0:0.0:1.0	.	55;74;65;71	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	G	20;20;20;20;55;55;74;71;29;20;20	ENSP00000360949:S20G;ENSP00000360943:S20G;ENSP00000360945:S20G;ENSP00000412640:S20G;ENSP00000444450:S55G;ENSP00000441029:S55G;ENSP00000443191:S74G;ENSP00000262820:S71G;ENSP00000440707:S29G;ENSP00000419803:S20G	ENSP00000262820:S71G	S	-	1	0	KLHL13	116963454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.113000	0.77095	1.988000	0.58038	0.481000	0.45027	AGC		0.458	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		24	64	0	0	0	0	24	64				
DOCK11	139818	broad.mit.edu	37	X	117788710	117788710	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:117788710C>G	ENST00000276202.7	+	43	4904	c.4841C>G	c.(4840-4842)aCc>aGc	p.T1614S	DOCK11_ENST00000276204.6_Missense_Mutation_p.T1614S	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1614	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATGCAAGCACCCCAGAGCTC	0.433																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(4840-4842)ACC>AGC		dedicator of cytokinesis 11							98.0	90.0	92.0					X																	117788710		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117788710C>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4841C>G	X.37:g.117788710C>G	ENSP00000276202:p.Thr1614Ser					DOCK11_uc004eqq.2_Missense_Mutation_p.T1393S	p.T1614S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			43	4904	+			1614			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4841C>G	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623121	0.66901	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.14766	2.48;2.48	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	L	0.31120	0.905	0.80722	D	1	D;P	0.54207	0.965;0.913	D;P	0.70227	0.968;0.748	T	0.02126	-1.1209	10	0.06494	T	0.89	-15.9869	17.5152	0.87771	0.0:1.0:0.0:0.0	.	1614;1614	A6NIW2;Q5JSL3	.;DOC11_HUMAN	S	1614	ENSP00000276204:T1614S;ENSP00000276202:T1614S	ENSP00000276202:T1614S	T	+	2	0	DOCK11	117672738	1.000000	0.71417	0.977000	0.42913	0.982000	0.71751	7.480000	0.81109	2.062000	0.61559	0.600000	0.82982	ACC		0.433	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		31	80	0	0	0	0	31	80				
KIAA1210	57481	broad.mit.edu	37	X	118221772	118221772	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:118221772G>T	ENST00000402510.2	-	11	3420	c.3421C>A	c.(3421-3423)Cgg>Agg	p.R1141R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1141										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATAGCAGCCCGCTCGAAATTT	0.468																																						uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(3421-3423)CGG>AGG		hypothetical protein LOC57481							82.0	76.0	78.0					X																	118221772		1860	4086	5946	SO:0001819	synonymous_variant	57481							g.chrX:118221772G>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3421C>A	X.37:g.118221772G>T							p.R1141R	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	3421	-			1141					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.3421C>A	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	2.370	-0.344608	0.05208	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.09	-2.83	0.05769	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29822	-0.9999	4	.	.	.	.	5.1835	0.15173	0.0:0.4284:0.1788:0.3928	.	.	.	.	E	547	.	.	A	-	2	0	KIAA1210	118105800	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-0.676000	0.05238	-0.594000	0.04110	GCG		0.468	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		19	78	1	0	2.38e-13	3.2e-13	19	78				
NKAP	79576	broad.mit.edu	37	X	119077487	119077487	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:119077487G>T	ENST00000371410.3	-	1	248	c.82C>A	c.(82-84)Ccg>Acg	p.P28T		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	28	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTGGGCTTCGGACTCTTCGAC	0.701																																						uc004esh.2		NA																	0				ovary(2)	2						c.(82-84)CCG>ACG		NFKB activating protein							23.0	25.0	24.0					X																	119077487		2203	4297	6500	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077487G>T	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.82C>A	X.37:g.119077487G>T	ENSP00000360464:p.Pro28Thr						p.P28T	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			1	249	-			28			Ser-rich.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.82C>A	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	g	12.10	1.836252	0.32421	.	.	ENSG00000101882	ENST00000371410	T	0.14640	2.49	4.23	4.23	0.50019	.	0.293691	0.31772	N	0.007085	T	0.30572	0.0769	L	0.60455	1.87	0.24481	N	0.99434	D	0.89917	1.0	D	0.79108	0.992	T	0.02424	-1.1161	10	0.56958	D	0.05	-3.4245	11.1968	0.48717	0.0:0.0:1.0:0.0	.	28	Q8N5F7	NKAP_HUMAN	T	28	ENSP00000360464:P28T	ENSP00000360464:P28T	P	-	1	0	NKAP	118961515	1.000000	0.71417	0.934000	0.37439	0.027000	0.11550	4.351000	0.59398	2.119000	0.64992	0.540000	0.68198	CCG		0.701	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		19	39	1	0	6.45e-10	8.3e-10	19	39				
THOC2	57187	broad.mit.edu	37	X	122866840	122866840	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:122866840C>A	ENST00000245838.8	-	1	64	c.33G>T	c.(31-33)gaG>gaT	p.E11D	THOC2_ENST00000355725.4_Missense_Mutation_p.E11D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	11					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCTTTATCCACTCTGCGGGAA	0.637											OREG0003978|OREG0003979	type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004etu.2		NA																	0				ovary(3)	3						c.(31-33)GAG>GAT		THO complex 2							79.0	81.0	80.0					X																	122866840		1965	4133	6098	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122866840C>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.33G>T	X.37:g.122866840C>A	ENSP00000245838:p.Glu11Asp		OREG0003979|OREG0003978	type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1522	THOC2_uc011mui.1_5'UTR	p.E11D	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			1	65	-			11					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.33G>T	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986835	0.18889	.	.	ENSG00000125676	ENST00000245838;ENST00000355725	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	T	0.32615	0.0835	N	0.10782	0.045	0.40048	D	0.975747	B	0.18968	0.032	B	0.19666	0.026	T	0.16158	-1.0412	8	0.30854	T	0.27	-5.9109	10.8991	0.47040	0.1878:0.8122:0.0:0.0	.	11	Q8NI27	THOC2_HUMAN	D	11	.	ENSP00000245838:E11D	E	-	3	2	THOC2	122694521	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.484000	0.45242	2.191000	0.70037	0.544000	0.68410	GAG		0.637	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			18	54	1	0	5.04e-11	6.59e-11	18	54				
XPNPEP2	7512	broad.mit.edu	37	X	128896688	128896688	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:128896688A>T	ENST00000371106.3	+	19	1874	c.1682A>T	c.(1681-1683)gAt>gTt	p.D561V		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	561						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TACTATAAGGATGGAGAATTT	0.542																																						uc004eut.1		NA																	0					0						c.(1681-1683)GAT>GTT		X-prolyl aminopeptidase 2, membrane-bound							107.0	94.0	98.0					X																	128896688		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128896688A>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1682A>T	X.37:g.128896688A>T	ENSP00000360147:p.Asp561Val						p.D561V	NM_003399	NP_003390	O43895	XPP2_HUMAN			19	1926	+			561					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1682A>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017568	0.75161	.	.	ENSG00000122121	ENST00000371106	T	0.77750	-1.12	5.7	5.7	0.88788	Peptidase M24, structural domain (3);	0.140570	0.64402	D	0.000005	D	0.86372	0.5917	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87778	0.2610	10	0.87932	D	0	-13.0716	13.8195	0.63311	1.0:0.0:0.0:0.0	.	561	O43895	XPP2_HUMAN	V	561	ENSP00000360147:D561V	ENSP00000360147:D561V	D	+	2	0	XPNPEP2	128724369	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.738000	0.74822	1.908000	0.55244	0.481000	0.45027	GAT		0.542	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		19	44	0	0	0	0	19	44				
UTP14A	10813	broad.mit.edu	37	X	129053151	129053151	+	Splice_Site	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:129053151G>T	ENST00000394422.3	+	7	566	c.538G>T	c.(538-540)Gca>Tca	p.A180S	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Splice_Site_p.A12S|UTP14A_ENST00000371051.5_Splice_Site_p.A126S|UTP14A_ENST00000425117.2_Splice_Site_p.A128S	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	180					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CTTCTTTAAGGCAAGAACTCC	0.433																																						uc004euz.2		NA																	0				ovary(2)	2						c.(538-540)GCA>TCA		UTP14, U3 small nucleolar ribonucleoprotein,							100.0	97.0	98.0					X																	129053151		2203	4300	6503	SO:0001630	splice_region_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129053151G>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.538-1G>T	X.37:g.129053151G>T						UTP14A_uc011mup.1_Missense_Mutation_p.A128S|UTP14A_uc011muq.1_Missense_Mutation_p.A126S|UTP14A_uc004eva.1_5'Flank	p.A180S	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			7	566	+			180					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.538G>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987405	0.74589	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.17854	2.25;2.31;2.31;2.31;2.31	6.02	5.11	0.69529	.	0.217778	0.46442	D	0.000283	T	0.38161	0.1030	M	0.83118	2.625	0.80722	D	1	P;P;P	0.51653	0.808;0.947;0.84	B;P;P	0.54174	0.438;0.744;0.596	T	0.25152	-1.0140	9	.	.	.	-9.2217	15.6907	0.77450	0.0:0.2382:0.7618:0.0	.	126;128;180	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	S	128;180;126;12;12	ENSP00000388669:A128S;ENSP00000377944:A180S;ENSP00000360090:A126S;ENSP00000413187:A12S;ENSP00000360081:A12S	.	A	+	1	0	UTP14A	128880832	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.632000	0.54287	2.559000	0.86315	0.597000	0.82753	GCA		0.433	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	Missense_Mutation	29	79	1	0	3.7e-22	5.26e-22	29	79				
GPR119	139760	broad.mit.edu	37	X	129518602	129518602	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:129518602G>C	ENST00000276218.2	-	1	909	c.820C>G	c.(820-822)Ctc>Gtc	p.L274V		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	274					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGTGGGTTGAGCAGGGAGTTG	0.567																																						uc011muv.1		NA																	0				ovary(2)	2						c.(820-822)CTC>GTC		G protein-coupled receptor 119							77.0	70.0	73.0					X																	129518602		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518602G>C	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.820C>G	X.37:g.129518602G>C	ENSP00000276218:p.Leu274Val						p.L274V	NM_178471	NP_848566	Q8TDV5	GP119_HUMAN			1	820	-			274			Helical; Name=7; (Potential).		Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.820C>G	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238210	0.22711	.	.	ENSG00000147262	ENST00000276218	T	0.45276	0.9	5.25	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.141482	0.49305	D	0.000160	T	0.33760	0.0874	L	0.55481	1.735	0.34779	D	0.734528	B	0.29612	0.251	B	0.27796	0.083	T	0.39165	-0.9627	10	0.44086	T	0.13	-7.1102	6.1993	0.20567	0.1776:0.1519:0.6705:0.0	.	274	Q8TDV5	GP119_HUMAN	V	274	ENSP00000276218:L274V	ENSP00000276218:L274V	L	-	1	0	GPR119	129346283	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	1.935000	0.40173	0.590000	0.29694	0.600000	0.82982	CTC		0.567	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		31	64	0	0	0	0	31	64				
STK26	51765	broad.mit.edu	37	X	131207017	131207017	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:131207017G>C	ENST00000354719.6	+	10	1266	c.1050G>C	c.(1048-1050)agG>agC	p.R350S	MST4_ENST00000394334.2_Missense_Mutation_p.R374S|MST4_ENST00000496850.1_Missense_Mutation_p.R312S|MST4_ENST00000394335.2_Missense_Mutation_p.R297S|MST4_ENST00000481105.1_Missense_Mutation_p.R396S																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACGCTAGCAGGAATCAGGCGA	0.368																																						uc004ewk.1		NA																	0				ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9						c.(1120-1122)AGG>AGC		serine/threonine protein kinase MST4 isoform 1							66.0	70.0	69.0					X																	131207017		2198	4294	6492	SO:0001583	missense	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131207017G>C																												ENST00000354719.6:c.1050G>C	X.37:g.131207017G>C	ENSP00000346755:p.Arg350Ser					MST4_uc004ewl.1_Missense_Mutation_p.R297S|MST4_uc011mux.1_Missense_Mutation_p.R396S|MST4_uc010nrj.1_Missense_Mutation_p.R350S|MST4_uc004ewm.1_Missense_Mutation_p.R312S	p.R374S	NM_016542	NP_057626	Q9P289	MST4_HUMAN			11	1423	+	Acute lymphoblastic leukemia(192;0.000127)		374						Missense_Mutation	SNP	ENST00000354719.6	37	c.1122G>C		.	.	.	.	.	.	.	.	.	.	g	11.19	1.565704	0.27915	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.76	1.42	0.22433	.	0.000000	0.64402	D	0.000002	T	0.10852	0.0265	N	0.12887	0.27	0.33862	D	0.633922	B;B;B;B;B	0.11235	0.002;0.001;0.003;0.004;0.001	B;B;B;B;B	0.14023	0.01;0.004;0.004;0.01;0.004	T	0.36529	-0.9744	10	0.06365	T	0.9	.	9.1949	0.37222	0.4858:0.0:0.5142:0.0	.	396;350;312;297;374	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	S	374;396;350;297;312	ENSP00000377867:R374S;ENSP00000418753:R396S;ENSP00000346755:R350S;ENSP00000377868:R297S;ENSP00000419702:R312S	ENSP00000346755:R350S	R	+	3	2	AL109749.1	131034698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.958000	0.29227	0.212000	0.20703	0.519000	0.50382	AGG		0.368	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			44	68	0	0	0	0	44	68				
TFDP3	51270	broad.mit.edu	37	X	132351548	132351548	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:132351548A>T	ENST00000310125.4	-	1	828	c.740T>A	c.(739-741)cTg>cAg	p.L247Q		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	247	Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TGAGTTGGGCAGCGGCCGCTG	0.478																																						uc004exb.1		NA																	0				ovary(1)	1						c.(739-741)CTG>CAG		transcription factor Dp family, member 3							116.0	119.0	118.0					X																	132351548		2201	4299	6500	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351548A>T	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.740T>A	X.37:g.132351548A>T	ENSP00000385461:p.Leu247Gln						p.L247Q	NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN			1	829	-	Acute lymphoblastic leukemia(192;0.000127)		247			Involved in negatively regulating E2F activity.		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.740T>A	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	g	9.515	1.106669	0.20714	.	.	ENSG00000183434	ENST00000310125	T	0.21932	1.98	0.208	0.208	0.15221	Transcription factor DP, C-terminal (1);	.	.	.	.	T	0.09069	0.0224	N	0.08118	0	0.19575	N	0.999967	B	0.02656	0.0	B	0.06405	0.002	T	0.33523	-0.9865	9	0.32370	T	0.25	.	4.652	0.12599	0.3047:0.0:0.6953:0.0	.	247	Q5H9I0	TFDP3_HUMAN	Q	247	ENSP00000385461:L247Q	ENSP00000385461:L247Q	L	-	2	0	TFDP3	132179214	1.000000	0.71417	0.013000	0.15412	0.013000	0.08279	4.463000	0.60128	-0.871000	0.04042	-0.880000	0.02959	CTG		0.478	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		41	135	0	0	0	0	41	135				
FHL1	2273	broad.mit.edu	37	X	135291444	135291444	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:135291444C>A	ENST00000345434.3	+	6	812	c.731C>A	c.(730-732)gCt>gAt	p.A244D	FHL1_ENST00000539015.1_Intron|FHL1_ENST00000370683.1_Intron|FHL1_ENST00000394155.2_Missense_Mutation_p.A244D|FHL1_ENST00000535737.1_Intron|FHL1_ENST00000543669.1_Intron|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000370690.3_Intron|FHL1_ENST00000394153.2_Intron			Q13642	FHL1_HUMAN	four and a half LIM domains 1	244					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTCTCTAAAGCTAGGAAGCCC	0.572											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004ezo.2		NA																	0					0						c.(730-732)GCT>GAT		four and a half LIM domains 1 isoform 1							55.0	50.0	52.0					X																	135291444		1568	3582	5150	SO:0001583	missense	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135291444C>A	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.731C>A	X.37:g.135291444C>A	ENSP00000071281:p.Ala244Asp		OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1617	FHL1_uc010nrz.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc011mvz.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron	p.A244D	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN			6	831	+	Acute lymphoblastic leukemia(192;0.000127)		244					B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.731C>A	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	c	11.34	1.609488	0.28623	.	.	ENSG00000022267	ENST00000394155;ENST00000345434	T;T	0.65364	-0.15;-0.15	3.85	3.85	0.44370	.	0.330470	0.36374	N	0.002626	T	0.38374	0.1038	N	0.08118	0	0.29543	N	0.851945	B	0.21520	0.057	B	0.19148	0.024	T	0.28202	-1.0051	10	0.30078	T	0.28	.	10.3036	0.43667	0.0:1.0:0.0:0.0	.	244	Q13642	FHL1_HUMAN	D	244	ENSP00000377710:A244D;ENSP00000071281:A244D	ENSP00000071281:A244D	A	+	2	0	FHL1	135119110	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.005000	0.49521	2.187000	0.69744	0.421000	0.28195	GCT		0.572	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		10	41	1	0	0.000442599	0.000479857	10	41				
GPR112	139378	broad.mit.edu	37	X	135453552	135453552	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:135453552G>C	ENST00000394143.1	+	14	7753	c.7462G>C	c.(7462-7464)Gaa>Caa	p.E2488Q	GPR112_ENST00000412101.1_Missense_Mutation_p.E2283Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E2286Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E2283Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E2488Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2488					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTGGGTAAAGAAGAGACAAA	0.338																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7462-7464)GAA>CAA		G-protein coupled receptor 112							53.0	49.0	51.0					X																	135453552		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135453552G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7462G>C	X.37:g.135453552G>C	ENSP00000377699:p.Glu2488Gln					GPR112_uc010nsb.1_Missense_Mutation_p.E2283Q	p.E2488Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			14	7753	+	Acute lymphoblastic leukemia(192;0.000127)		2488			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.7462G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	13.62	2.292104	0.40594	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.28895	1.63;1.63;1.59;1.72;1.59	5.14	3.08	0.35506	.	.	.	.	.	T	0.35068	0.0919	N	0.24115	0.695	0.09310	N	0.999993	D;P	0.89917	1.0;0.737	D;P	0.80764	0.994;0.644	T	0.08700	-1.0709	9	0.49607	T	0.09	.	4.6122	0.12408	0.3517:0.0:0.6483:0.0	.	2283;2488	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Q	2488;2488;2283;2286;2283	ENSP00000377699:E2488Q;ENSP00000359686:E2488Q;ENSP00000416526:E2283Q;ENSP00000287534:E2286Q;ENSP00000377697:E2283Q	ENSP00000287534:E2286Q	E	+	1	0	GPR112	135281218	0.999000	0.42202	0.968000	0.41197	0.313000	0.28021	0.903000	0.28475	0.952000	0.37798	0.597000	0.82753	GAA		0.338	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			12	32	0	0	0	0	12	32				
PASD1	139135	broad.mit.edu	37	X	150789407	150789407	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:150789407G>C	ENST00000370357.4	+	5	458	c.213G>C	c.(211-213)gaG>gaC	p.E71D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	71	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGGCTGAGATTGTGGGCA	0.408																																						uc004fev.3		NA																	0				ovary(3)	3						c.(211-213)GAG>GAC		PAS domain containing 1							75.0	76.0	76.0					X																	150789407		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150789407G>C	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.213G>C	X.37:g.150789407G>C	ENSP00000359382:p.Glu71Asp						p.E71D	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			5	545	+	Acute lymphoblastic leukemia(192;6.56e-05)		71			PAS.		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.213G>C	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	2.854	-0.237558	0.05944	.	.	ENSG00000166049	ENST00000370357	T	0.69175	-0.38	5.21	-10.4	0.00318	PAS (2);	.	.	.	.	T	0.23492	0.0568	N	0.01640	-0.785	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.08638	-1.0712	9	0.02654	T	1	-15.9569	3.9785	0.09484	0.1428:0.1684:0.1233:0.5654	.	71	Q8IV76	PASD1_HUMAN	D	71	ENSP00000359382:E71D	ENSP00000359382:E71D	E	+	3	2	PASD1	150540063	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.774000	0.01784	-3.186000	0.00221	-0.234000	0.12200	GAG		0.408	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		27	84	0	0	0	0	27	84				
ATP2B3	492	broad.mit.edu	37	X	152814263	152814263	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:152814263C>A	ENST00000349466.2	+	9	1615	c.1289C>A	c.(1288-1290)cCa>cAa	p.P430Q	ATP2B3_ENST00000370186.1_Missense_Mutation_p.P416Q|ATP2B3_ENST00000370181.2_Missense_Mutation_p.P416Q|ATP2B3_ENST00000263519.4_Missense_Mutation_p.P430Q|ATP2B3_ENST00000393842.1_Missense_Mutation_p.P416Q|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P430Q			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	430					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCTGTCCCAGAGGGCCTG	0.502																																						uc004fht.1		NA																	0				pancreas(1)	1						c.(1288-1290)CCA>CAA		plasma membrane calcium ATPase 3 isoform 3b							159.0	103.0	122.0					X																	152814263		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152814263C>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1289C>A	X.37:g.152814263C>A	ENSP00000343886:p.Pro430Gln					ATP2B3_uc004fhs.1_Missense_Mutation_p.P430Q	p.P430Q	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			8	1415	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		430			Helical; (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1289C>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503199	0.85176	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77;-5.77	4.73	4.73	0.59995	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.98918	4.37	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97070	0.9777	10	0.87932	D	0	-15.4451	15.9103	0.79467	0.0:1.0:0.0:0.0	.	430;430	Q16720;Q16720-2	AT2B3_HUMAN;.	Q	416;430;416;430;430;416	ENSP00000359205:P416Q;ENSP00000343886:P430Q;ENSP00000377425:P416Q;ENSP00000352062:P430Q;ENSP00000263519:P430Q;ENSP00000359200:P416Q	ENSP00000263519:P430Q	P	+	2	0	ATP2B3	152467457	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	7.740000	0.84986	2.091000	0.63221	0.517000	0.50305	CCA		0.502	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		11	50	1	0	6.4e-05	7.14e-05	11	50				
DKC1	1736	broad.mit.edu	37	X	153994589	153994589	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:153994589G>T	ENST00000369550.5	+	5	572	c.362G>T	c.(361-363)aGt>aTt	p.S121I	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	121			S -> G (in HHS; no effect on interaction with SHQ1; dbSNP:rs121912305). {ECO:0000269|PubMed:10583221, ECO:0000269|PubMed:19734544}.		cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGGGCACAGTGGTACGCTG	0.522									Congenital Dyskeratosis																													uc004fmm.2		NA																	0					0						c.(361-363)AGT>ATT		dyskerin isoform 1							118.0	104.0	109.0					X																	153994589		2203	4300	6503	SO:0001583	missense	1736	Congenital_Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994589G>T	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.362G>T	X.37:g.153994589G>T	ENSP00000358563:p.Ser121Ile					DKC1_uc010nvf.2_Missense_Mutation_p.S121I|SNORA36A_uc004fmn.2_5'Flank	p.S121I	NM_001363	NP_001354	O60832	DKC1_HUMAN			5	572	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		121					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.362G>T	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.558014|4.558014	0.86231|0.86231	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000437719|ENST00000369550;ENST00000413910	.|D;D	.|0.88277	.|-2.36;-2.36	5.95|5.95	5.09|5.09	0.68999|0.68999	.|Pseudouridine synthase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95348|0.95348	0.8490|0.8490	M|M	0.92604|0.92604	3.325|3.325	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.968;0.999	.|P;D	.|0.74023	.|0.776;0.982	D|D	0.95806|0.95806	0.8837|0.8837	5|10	.|0.87932	.|D	.|0	-12.997|-12.997	12.8188|12.8188	0.57681|0.57681	0.0806:0.0:0.9194:0.0|0.0806:0.0:0.9194:0.0	.|.	.|121;121	.|A8MUT5;O60832	.|.;DKC1_HUMAN	H|I	106|121	.|ENSP00000358563:S121I;ENSP00000400542:S121I	.|ENSP00000358563:S121I	Q|S	+|+	3|2	2|0	DKC1|DKC1	153647783|153647783	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.953000|0.953000	0.61014|0.61014	9.309000|9.309000	0.96252|0.96252	1.274000|1.274000	0.44362|0.44362	0.513000|0.513000	0.50165|0.50165	CAG|AGT		0.522	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		24	58	1	0	7.88e-14	1.06e-13	24	58				
OR2M2	391194	broad.mit.edu	37	1	248343753	248343753	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:248343753delG	ENST00000359682.2	+	1	466	c.466delG	c.(466-468)ggafs	p.G156fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTACAGATGGAATCATTGA	0.433																																						uc010pzf.1		NA																	0				ovary(3)|skin(1)	4						c.(466-468)GGAfs		olfactory receptor, family 2, subfamily M,							190.0	192.0	191.0					1																	248343753		2203	4300	6503	SO:0001589	frameshift_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343753delG	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.466delG	1.37:g.248343753delG	ENSP00000352710:p.Gly156fs						p.G156fs	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	466	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		156			Helical; Name=4; (Potential).		A3KFT4	Frame_Shift_Del	DEL	ENST00000359682.2	37	c.466delG	CCDS31106.1																																																																																				0.433	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		87	268	NA	NA	NA	NA	87	268	---	---	---	---
HPSE2	60495	broad.mit.edu	37	10	100481543	100481543	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:100481543delC	ENST00000370552.3	-	5	886	c.827delG	c.(826-828)ggcfs	p.G276fs	HPSE2_ENST00000370549.1_Frame_Shift_Del_p.G218fs|HPSE2_ENST00000370546.1_Frame_Shift_Del_p.G276fs|HPSE2_ENST00000404542.1_Frame_Shift_Del_p.G164fs	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	276					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CAACTGGCTGCCATTTACTGC	0.483																																						uc001kpn.1		NA																	0				ovary(1)	1						c.(826-828)GGCfs		heparanase 2							93.0	82.0	86.0					10																	100481543		2203	4300	6503	SO:0001589	frameshift_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100481543delC	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.827delG	10.37:g.100481543delC	ENSP00000359583:p.Gly276fs					HPSE2_uc009xwc.1_Frame_Shift_Del_p.G266fs|HPSE2_uc001kpo.1_Frame_Shift_Del_p.G208fs|HPSE2_uc009xwd.1_Frame_Shift_Del_p.G154fs	p.G276fs	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	5	887	-			276					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Frame_Shift_Del	DEL	ENST00000370552.3	37	c.827delG	CCDS7477.1																																																																																				0.483	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		24	32	NA	NA	NA	NA	24	32	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40223995	40223995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:40223995delC	ENST00000280871.4	-	7	1405	c.1355delG	c.(1354-1356)ggtfs	p.G452fs		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	452					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTAGCAGAAACCGCAGTCTGG	0.418										HNSCC(50;0.14)																												uc010skm.1		NA																	0				ovary(1)	1						c.(1354-1356)GGTfs		solute carrier family 2 (facilitated glucose							115.0	109.0	111.0					12																	40223995		2203	4300	6503	SO:0001589	frameshift_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40223995delC	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1355delG	12.37:g.40223995delC	ENSP00000280871:p.Gly452fs	HNSCC(50;0.14)				C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Frame_Shift_Del_p.G99fs	p.G452fs	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			7	1406	-		Lung NSC(34;0.105)|all_lung(34;0.123)	452			Extracellular (Potential).		Q17S07	Frame_Shift_Del	DEL	ENST00000280871.4	37	c.1355delG	CCDS8736.2																																																																																				0.418	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			11	56	NA	NA	NA	NA	11	56	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49444035	49444045	+	Frame_Shift_Del	DEL	CAGGGCTGGGG	CAGGGCTGGGG	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:49444035_49444045delCAGGGCTGGGG	ENST00000301067.7	-	11	3325_3335	c.3326_3336delCCCCAGCCCTG	c.(3325-3336)gccccagccctgfs	p.APAL1109fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1109	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P1110L(1)|p.P837L(1)									AGAAGTCATCCAGGGCTGGGGCAGGGCTGGG	0.616																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		skin(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3325-3336)GCCCCAGCCCTGfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444035_49444045delCAGGGCTGGGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3326_3336delCCCCAGCCCTG	12.37:g.49444035_49444045delCAGGGCTGGGG	ENSP00000301067:p.Ala1109fs	HNSCC(34;0.089)					p.A1109fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3326_3336	-			1109_1112			Pro-rich.		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.3326_3336delCCCCAGCCCTG	CCDS44873.1																																																																																				0.616	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	15	NA	NA	NA	NA	8	15	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579494	7579495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:7579494_7579495insG	ENST00000269305.4	-	4	381_382	c.192_193insC	c.(190-195)cccagafs	p.R65fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.R65fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R65fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Ins_p.R65fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R65fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.R65fs	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	65	Interaction with HRMT1L2.		R -> T (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.R65*(11)|p.0?(8)|p.R65fs*84(3)|p.G59fs*23(3)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGGCATTCTGGGAGCTTCAT	0.614		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		31	Substitution - Nonsense(11)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(3)|Deletion - In frame(2)	p.R65*(8)|p.0?(7)|p.G59fs*23(3)|p.264_265insSSGNL(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)	lung(7)|urinary_tract(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|pancreas(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(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	GRCh37	CD065798	TP53	D		c.(190-195)CCCAGAfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579494_7579495insG	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.193dupC	17.37:g.7579497_7579497dupG	ENSP00000269305:p.Arg65fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Ins_p.P64fs|TP53_uc002gih.2_Frame_Shift_Ins_p.P64fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.P64fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P64fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P64fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.P25fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.P79fs	p.P64fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	386_387	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	64_65		R -> T (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.192_193insC	CCDS11118.1																																																																																				0.614	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		150	120	NA	NA	NA	NA	150	120	---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8551028	8551029	+	Frame_Shift_Ins	INS	-	-	G	rs182619831	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:8551028_8551029insG	ENST00000325495.4	+	14	1757_1758	c.1716_1717insG	c.(1717-1719)gccfs	p.A573fs	HNRNPM_ENST00000348943.3_Frame_Shift_Ins_p.A534fs	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	573	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGCGCATGGGCGCCAACAGCCT	0.713																																						uc010dwe.2		NA																	0					0						c.(1714-1719)GGCGCCfs		heterogeneous nuclear ribonucleoprotein M																																				SO:0001589	frameshift_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8551028_8551029insG	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1717dupG	19.37:g.8551029_8551029dupG	ENSP00000325376:p.Ala573fs					HNRNPM_uc010xke.1_Frame_Shift_Ins_p.G518fs|HNRNPM_uc010dwd.2_Frame_Shift_Ins_p.G533fs|HNRNPM_uc002mka.2_Frame_Shift_Ins_p.G437fs|HNRNPM_uc002mkb.1_5'Flank	p.G572fs	NM_005968	NP_005959	P52272	HNRPM_HUMAN			14	1796_1797	+			572_573			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Frame_Shift_Ins	INS	ENST00000325495.4	37	c.1716_1717insG	CCDS12203.1																																																																																				0.713	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			35	130	NA	NA	NA	NA	35	130	---	---	---	---
ZNF808	388558	broad.mit.edu	37	19	53056767	53056767	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:53056767delC	ENST00000359798.4	+	5	778	c.598delC	c.(598-600)cccfs	p.P200fs		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	200					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTCCTGTAGGCCCCAAATCCA	0.378																																						uc010epq.1		NA																	0					0						c.(598-600)CCCfs		zinc finger protein 808							121.0	130.0	127.0					19																	53056767		2199	4300	6499	SO:0001589	frameshift_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53056767delC	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.598delC	19.37:g.53056767delC	ENSP00000352846:p.Pro200fs					ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.P200fs	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	775	+			200					Q68CN7	Frame_Shift_Del	DEL	ENST00000359798.4	37	c.598delC	CCDS46167.1																																																																																				0.378	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		105	148	NA	NA	NA	NA	105	148	---	---	---	---
MFSD9	84804	broad.mit.edu	37	2	103335456	103335457	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:103335456_103335457insA	ENST00000258436.5	-	6	890_891	c.847_848insT	c.(847-849)tccfs	p.S283fs	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	283					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCACATTTCGGAAAACAGCAGG	0.574																																						uc002tcb.2		NA																	0				ovary(2)|breast(2)	4						c.(847-849)TCCfs		major facilitator superfamily domain containing																																				SO:0001589	frameshift_variant	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335456_103335457insA		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.848dupT	2.37:g.103335460_103335460dupA	ENSP00000258436:p.Ser283fs					MFSD9_uc010fja.2_RNA	p.S283fs	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			6	915_916	-			283					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Frame_Shift_Ins	INS	ENST00000258436.5	37	c.847_848insT	CCDS2063.1																																																																																				0.574	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		20	77	NA	NA	NA	NA	20	77	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3080618	3080618	+	Splice_Site	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:3080618delC	ENST00000397461.1	+	18	2478	c.2094delC	c.(2092-2094)ctc>ct	p.L698fs	CNTN4_ENST00000427331.1_Splice_Site_p.L698fs|CNTN4_ENST00000418658.1_Splice_Site_p.L698fs|CNTN4_ENST00000397459.2_Splice_Site_p.L370fs|CNTN4_ENST00000448906.2_Splice_Site_p.L370fs|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000358480.3_Splice_Site_p.L479fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	698					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTTGTGCAGTCCCCGAAGTCA	0.498																																						uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(2092-2094)CTCfs		contactin 4 isoform a precursor							103.0	95.0	98.0					3																	3080618		2203	4300	6503	SO:0001630	splice_region_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3080618delC	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2093-1C>-	3.37:g.3080618delC						CNTN4_uc003bpb.1_Frame_Shift_Del_p.L369fs|CNTN4_uc003bpe.2_Frame_Shift_Del_p.L370fs|CNTN4_uc003bpf.2_Frame_Shift_Del_p.L369fs|CNTN4_uc003bpg.2_5'Flank	p.L698fs	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	18	2315	+		Ovarian(110;0.156)	698					B2RAX3|Q8IX14|Q8TC35	Frame_Shift_Del	DEL	ENST00000397461.1	37	c.2094delC	CCDS43041.1																																																																																				0.498	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		Frame_Shift_Del	12	29	NA	NA	NA	NA	12	29	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167742786	167742786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:167742786delG	ENST00000470487.1	-	13	2410	c.1721delC	c.(1720-1722)ccafs	p.P574fs	GOLIM4_ENST00000309027.4_Frame_Shift_Del_p.P546fs	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	574	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTTTCATCTGGCAAATTTTC	0.418																																						uc003ffe.2		NA																	0				breast(4)|skin(1)	5						c.(1720-1722)CCAfs		golgi integral membrane protein 4							208.0	184.0	192.0					3																	167742786		2202	4300	6502	SO:0001589	frameshift_variant	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167742786delG	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1721delC	3.37:g.167742786delG	ENSP00000417354:p.Pro574fs					GOLIM4_uc011bpe.1_Frame_Shift_Del_p.P575fs|GOLIM4_uc011bpf.1_Frame_Shift_Del_p.P547fs|GOLIM4_uc011bpg.1_Frame_Shift_Del_p.P546fs	p.P574fs	NM_014498	NP_055313	O00461	GOLI4_HUMAN			13	2065	-			574			Glu-rich.|Lumenal (Potential).			Frame_Shift_Del	DEL	ENST00000470487.1	37	c.1721delC	CCDS3204.1																																																																																				0.418	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			104	117	NA	NA	NA	NA	104	117	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193153532	193153532	+	Splice_Site	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:193153532delC	ENST00000342695.4	-	24	2996	c.2674delG	c.(2674-2676)gaa>aa	p.E892fs	ATP13A4_ENST00000392443.3_Splice_Site_p.E873fs	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	892						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACGTCCTTCCCTGTGTAAG	0.403																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(2674-2676)GAAfs		ATPase type 13A4							144.0	130.0	134.0					3																	193153532		2203	4300	6503	SO:0001630	splice_region_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193153532delC	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2673-1G>-	3.37:g.193153532delC						ATP13A4_uc010hzi.2_RNA	p.E892fs	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	24	2782	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		892			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Frame_Shift_Del	DEL	ENST00000342695.4	37	c.2674delG	CCDS3304.2																																																																																				0.403	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	Frame_Shift_Del	26	113	NA	NA	NA	NA	26	113	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114278600	114278601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:114278600_114278601insA	ENST00000357077.4	+	38	8879_8880	c.8826_8827insA	c.(8827-8829)aaafs	p.K2943fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.K2910fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2943					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGAAGAAAGCAAAACCCAAAC	0.416																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8824-8829)AGCAAAfs		ankyrin 2 isoform 1																																				SO:0001589	frameshift_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278600_114278601insA	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8830dupA	4.37:g.114278604_114278604dupA	ENSP00000349588:p.Lys2943fs					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Frame_Shift_Ins_p.S244fs|ANK2_uc011cgb.1_Frame_Shift_Ins_p.S2957fs	p.S2942fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8926_8927	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2909_2910					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Ins	INS	ENST00000357077.4	37	c.8826_8827insA	CCDS3702.1																																																																																				0.416	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		77	110	NA	NA	NA	NA	77	110	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70042897	70042897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:70042897delC	ENST00000370598.1	+	24	4006	c.3185delC	c.(3184-3186)gccfs	p.A1062fs	BAI3_ENST00000238918.8_Frame_Shift_Del_p.A268fs|BAI3_ENST00000546190.1_Frame_Shift_Del_p.A26fs	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1062					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAACACAGAGCCGGGTAAGCT	0.388																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3184-3186)GCCfs		brain-specific angiogenesis inhibitor 3							88.0	89.0	89.0					6																	70042897		2203	4299	6502	SO:0001589	frameshift_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70042897delC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3185delC	6.37:g.70042897delC	ENSP00000359630:p.Ala1062fs					BAI3_uc010kak.2_Frame_Shift_Del_p.A1062fs|BAI3_uc011dxx.1_Frame_Shift_Del_p.A268fs|BAI3_uc003pex.1_Frame_Shift_Del_p.A192fs	p.A1062fs	NM_001704	NP_001695	O60242	BAI3_HUMAN			24	3633	+		all_lung(197;0.212)	1062			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Frame_Shift_Del	DEL	ENST00000370598.1	37	c.3185delC	CCDS4968.1																																																																																				0.388	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			16	28	NA	NA	NA	NA	16	28	---	---	---	---
VNN1	8876	broad.mit.edu	37	6	133015242	133015242	+	Frame_Shift_Del	DEL	C	C	-	rs573219756		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:133015242delC	ENST00000367928.4	-	3	434	c.421delG	c.(421-423)gacfs	p.D141fs		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	141	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GGCTTCTTGTCCCCAATATTT	0.468																																						uc003qdo.2		NA																	0				ovary(3)	3						c.(421-423)GACfs		vanin 1 precursor							173.0	154.0	161.0					6																	133015242		2203	4300	6503	SO:0001589	frameshift_variant	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133015242delC	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.421delG	6.37:g.133015242delC	ENSP00000356905:p.Asp141fs						p.D141fs	NM_004666	NP_004657	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	3	441	-	Breast(56;0.135)		141			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Frame_Shift_Del	DEL	ENST00000367928.4	37	c.421delG	CCDS5159.1																																																																																				0.468	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			35	78	NA	NA	NA	NA	35	78	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Deletion - In frame(4)		upper_aerodigestive_tract(2)|central_nervous_system(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1069-1074)TTCTAC>TAC		notch1 preproprotein																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.F357del	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1070_1072	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		21	20	NA	NA	NA	NA	21	20	---	---	---	---
TSPYL2	64061	broad.mit.edu	37	X	53114157	53114157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:53114157delC	ENST00000375442.4	+	4	1151	c.1019delC	c.(1018-1020)accfs	p.T340fs		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	340					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TCTCACTCAACCCCAATCCGC	0.577																																						uc004drw.2		NA																	0					0						c.(1018-1020)ACCfs		TSPY-like 2							45.0	46.0	46.0					X																	53114157		2203	4300	6503	SO:0001589	frameshift_variant	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53114157delC	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1019delC	X.37:g.53114157delC	ENSP00000364591:p.Thr340fs					TSPYL2_uc004drv.2_3'UTR|TSPYL2_uc004drx.1_5'UTR	p.T340fs	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN			4	1151	+			340	T->A: Impairs effect on cell proliferation; when associated with A-20.				O94799|Q96DG7|Q9BZW6	Frame_Shift_Del	DEL	ENST00000375442.4	37	c.1019delC	CCDS14350.1																																																																																				0.577	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		48	91	NA	NA	NA	NA	48	91	---	---	---	---
