#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRSS22	64063	broad.mit.edu	37	16	2903128	2903128	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:2903128G>T	ENST00000161006.3	-	6	985	c.920C>A	c.(919-921)cCg>cAg	p.P307Q	PRSS22_ENST00000571228.1_Missense_Mutation_p.P197Q|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	307						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCCTGGCTCGGTGCCCTGAG	0.706																																						ENST00000161006.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						c.(919-921)cCg>cAg		protease, serine, 22							9.0	11.0	10.0					16																	2903128		2078	4120	6198	SO:0001583	missense	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2903128G>T	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.920C>A	16.37:g.2903128G>T	ENSP00000161006:p.Pro307Gln					PRSS22_ENST00000571228.1_Missense_Mutation_p.P197Q	p.P307Q	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN			6	985	-			307					O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	c.920C>A	CCDS10481.1	.	.	.	.	.	.	.	.	.	.	g	8.527	0.870209	0.17322	.	.	ENSG00000005001	ENST00000161006	D	0.87729	-2.29	2.28	-3.73	0.04398	.	1.584960	0.04404	U	0.364813	T	0.68357	0.2992	N	0.08118	0	0.09310	N	1	P	0.38078	0.617	B	0.27500	0.08	T	0.62964	-0.6742	10	0.59425	D	0.04	.	5.1107	0.14808	0.3465:0.1546:0.4989:0.0	.	307	Q9GZN4	BSSP4_HUMAN	Q	307	ENSP00000161006:P307Q	ENSP00000161006:P307Q	P	-	2	0	PRSS22	2843129	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.581000	0.00424	-0.908000	0.03857	-1.899000	0.00529	CCG		0.706	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		3	26	1	0	6.4e-05	1	7.17949e-05	3	26				
IGHM	3507	broad.mit.edu	37	14	106322075	106322075	+	RNA	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:106322075G>A	ENST00000390559.2	-	0	248				hsa-mir-4538_ENST00000581318.1_RNA|AL122127.5_ENST00000582202.1_RNA|AL122127.2_ENST00000581918.1_RNA|AL122127.1_ENST00000581354.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA|AL122127.4_ENST00000581720.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCACGTGTTCGTCTGTGCCCT	0.622																																						ENST00000390559.2																			0																				111.0	113.0	112.0					14																	106322075		2080	4193	6273			0							g.chr14:106322075G>A	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106322075G>A														0	248	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.622	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		4	129	0	0	0	1	0	4	129				
KRT75	9119	broad.mit.edu	37	12	52820636	52820636	+	Splice_Site	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:52820636C>A	ENST00000252245.5	-	8	1603		c.e8-1		RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75						hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCCACTCAACCTGATTGGGAA	0.463																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.e8-1		keratin 75							136.0	115.0	122.0					12																	52820636		2203	4300	6503	SO:0001630	splice_region_variant	9119					keratin filament	structural molecule activity	g.chr12:52820636C>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1383-1G>T	12.37:g.52820636C>A						RP11-1020M18.10_ENST00000548135.1_RNA		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	8	1603	-								B4DQU4|Q9NSA9	Splice_Site	SNP	ENST00000252245.5	37		CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212015	0.58452	.	.	ENSG00000170454	ENST00000252245	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8904	0.63736	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT75	51106903	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.347000	0.52200	2.634000	0.89283	0.655000	0.94253	.		0.463	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	Intron	7	52	1	0	0.0293803	1	0.0300676	7	52				
SIGLEC11	114132	broad.mit.edu	37	19	50461937	50461937	+	Silent	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:50461937C>A	ENST00000447370.2	-	7	1416	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	SIGLEC11_ENST00000426971.2_Silent_p.L442L|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	442	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCTGGGAGCCCAGAGGGTGCT	0.667																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1324-1326)ctG>ctT		sialic acid binding Ig-like lectin 11							83.0	80.0	81.0					19																	50461937		2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461937C>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1326G>T	19.37:g.50461937C>A						SIGLEC11_ENST00000426971.2_Silent_p.L442L	p.L442L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1416	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	442			Ig-like C2-type 3.			Silent	SNP	ENST00000447370.2	37	c.1326G>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	4.182	0.032380	0.08101	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.1	3.1	0.35709	.	.	.	.	.	T	0.60011	0.2236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58081	-0.7699	4	.	.	.	.	10.4007	0.44229	0.0:1.0:0.0:0.0	.	.	.	.	L	432	.	.	W	-	2	0	SIGLEC11	55153749	0.005000	0.15991	0.200000	0.23457	0.016000	0.09150	0.108000	0.15396	1.672000	0.50884	0.556000	0.70494	TGG		0.667	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		12	142	1	0	2.68362e-12	1	3.30728e-12	12	142				
TRBV7-7	28591	broad.mit.edu	37	7	142120060	142120060	+	RNA	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:142120060T>A	ENST00000390377.1	-	0	106									T cell receptor beta variable 7-7																		AGTTACATCCTGTCCCCTCTT	0.473																																						ENST00000390377.1																			0																				58.0	56.0	57.0					7																	142120060		1895	4113	6008			0							g.chr7:142120060T>A	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142120060T>A														0	106	-									RNA	SNP	ENST00000390377.1	37																																																																																						0.473	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		5	59	0	0	0	1	0	5	59				
OR2T4	127074	broad.mit.edu	37	1	248525215	248525215	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:248525215C>T	ENST00000366475.1	+	1	333	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TCACTGTGCCCAAGATGCTCC	0.488																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(331-333)ccC>ccT		olfactory receptor, family 2, subfamily T, member 4							265.0	199.0	221.0					1																	248525215		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525215C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.333C>T	1.37:g.248525215C>T							p.P111P	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	333	+	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)		111					Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.333C>T	CCDS31113.1																																																																																				0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		18	262	0	0	0	1	0	18	262				
NEO1	4756	broad.mit.edu	37	15	73580727	73580727	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:73580727G>C	ENST00000339362.5	+	25	3931	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H|NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H			Q92859	NEO1_HUMAN	neogenin 1	1162					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAAACCTCCAGATCTCTGGAT	0.463																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(3484-3486)Gat>Cat		neogenin 1							107.0	106.0	106.0					15																	73580727		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73580727G>C	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3484G>C	15.37:g.73580727G>C	ENSP00000341198:p.Asp1162His					NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H	p.D1162H			Q92859	NEO1_HUMAN			25	3931	+			1162					B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3484G>C	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724975	0.89298	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.70986	-0.53;-0.53	5.52	5.52	0.82312	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	M	0.76328	2.33	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	D	0.86078	0.1542	10	0.87932	D	0	-19.7695	19.4327	0.94778	0.0:0.0:1.0:0.0	.	1162;1151;873;1162	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	H	1162;873;1162	ENSP00000341198:D1162H;ENSP00000261908:D1162H	ENSP00000261908:D1162H	D	+	1	0	NEO1	71367780	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.594000	0.87642	0.561000	0.74099	GAT		0.463	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		7	51	0	0	0	1	0	7	51				
LZTR1	8216	broad.mit.edu	37	22	21349317	21349317	+	Splice_Site	SNP	T	T	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr22:21349317T>G	ENST00000215739.8	+	16	2301		c.e16+2		LZTR1_ENST00000389355.3_Splice_Site|LZTR1_ENST00000479606.1_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGACATTGGTAGGGAGCCCC	0.647																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.e16+2		leucine-zipper-like transcription regulator 1							41.0	44.0	43.0					22																	21349317		2203	4297	6500	SO:0001630	splice_region_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349317T>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1942+2T>G	22.37:g.21349317T>G						LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_Splice_Site		NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		16	2301	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)						Q14776|Q20WK0	Splice_Site	SNP	ENST00000215739.8	37		CCDS33606.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.261629	0.23051	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	.	.	.	5.28	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5235	0.39149	0.0:0.0866:0.0:0.9134	.	.	.	.	.	-1	.	.	.	+	.	.	LZTR1	19679317	1.000000	0.71417	0.995000	0.50966	0.227000	0.25037	5.860000	0.69546	1.988000	0.58038	0.454000	0.30748	.		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Intron	9	92	0	0	0	1	0	9	92				
ARSE	415	broad.mit.edu	37	X	2876456	2876456	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:2876456A>G	ENST00000381134.3	-	3	110	c.44T>C	c.(43-45)cTg>cCg	p.L15P	ARSE_ENST00000545496.1_Missense_Mutation_p.L40P|ARSE_ENST00000496095.1_5'UTR|ARSE_ENST00000540563.1_Intron	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	15					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCGCTGGCAGCCAGCTCCT	0.517																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(118-120)cTg>cCg		arylsulfatase E (chondrodysplasia punctata 1)							78.0	55.0	63.0					X																	2876456		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2876456A>G	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.44T>C	X.37:g.2876456A>G	ENSP00000370526:p.Leu15Pro					ARSE_ENST00000381134.3_Missense_Mutation_p.L15P|ARSE_ENST00000540563.1_Intron|ARSE_ENST00000496095.1_5'UTR	p.L40P			P51690	ARSE_HUMAN			4	410	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	15					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.119T>C	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393263	0.42410	.	.	ENSG00000157399	ENST00000545496;ENST00000381134;ENST00000438544	D;D;D	0.99586	-4.03;-4.02;-6.23	3.1	1.87	0.25490	.	4.873430	0.00951	N	0.002976	D	0.98595	0.9530	N	0.08118	0	0.09310	N	1	D;D	0.64830	0.994;0.971	P;P	0.57776	0.827;0.543	D	0.98329	1.0532	10	0.72032	D	0.01	.	6.0724	0.19897	0.7685:0.0:0.0:0.2315	.	40;15	F5GYY5;P51690	.;ARSE_HUMAN	P	40;15;15	ENSP00000441417:L40P;ENSP00000370526:L15P;ENSP00000406528:L15P	ENSP00000370526:L15P	L	-	2	0	ARSE	2886456	0.141000	0.22595	0.001000	0.08648	0.000000	0.00434	4.937000	0.63513	0.144000	0.18951	-0.391000	0.06502	CTG		0.517	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		4	31	0	0	0	1	0	4	31				
KDM2A	22992	broad.mit.edu	37	11	66999361	66999361	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:66999361C>A	ENST00000529006.2	+	12	1855	c.1409C>A	c.(1408-1410)tCt>tAt	p.S470Y	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S470Y	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	470					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AAGTTGGAGTCTCTGCCACTG	0.488																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1408-1410)tCt>tAt		lysine (K)-specific demethylase 2A							164.0	165.0	164.0					11																	66999361		2076	4211	6287	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66999361C>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1409C>A	11.37:g.66999361C>A	ENSP00000432786:p.Ser470Tyr					KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S470Y	p.S470Y	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			12	1855	+			470					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.1409C>A	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898670	0.72639	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.58940	0.3;0.3	5.82	5.82	0.92795	.	0.133263	0.51477	D	0.000092	T	0.55097	0.1899	L	0.49778	1.585	0.80722	D	1	P	0.49447	0.924	B	0.40782	0.34	T	0.61955	-0.6956	10	0.87932	D	0	-10.6152	17.2491	0.87037	0.0:1.0:0.0:0.0	.	470	Q9Y2K7	KDM2A_HUMAN	Y	470	ENSP00000381640:S470Y;ENSP00000432786:S470Y	ENSP00000381640:S470Y	S	+	2	0	KDM2A	66755937	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	2.751000	0.47508	2.761000	0.94854	0.643000	0.83706	TCT		0.488	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		28	182	1	0	1.17739e-12	1	1.4613e-12	28	182				
HSD11B1	3290	broad.mit.edu	37	1	209879155	209879155	+	Splice_Site	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:209879155G>C	ENST00000367028.2	+	3	257		c.e3-1		HSD11B1_ENST00000367027.3_Splice_Site|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1						glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	GGGTTCCCCAGAGATGCTCCA	0.488																																						ENST00000367028.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16						c.e3-1		hydroxysteroid (11-beta) dehydrogenase 1	NADH(DB00157)						92.0	94.0	94.0					1																	209879155		2203	4300	6503	SO:0001630	splice_region_variant	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	g.chr1:209879155G>C	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.89-1G>C	1.37:g.209879155G>C						RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site|HSD11B1_ENST00000367027.3_Splice_Site		NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	3	257	+								B2R9Z1|D3DT89	Splice_Site	SNP	ENST00000367028.2	37		CCDS1489.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385637	0.61956	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0829	0.86603	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD11B1	207945778	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.147000	0.77382	2.199000	0.70637	0.442000	0.29010	.		0.488	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525	Intron	6	81	0	0	0	1	0	6	81				
ROS1	6098	broad.mit.edu	37	6	117662661	117662661	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:117662661G>A	ENST00000368508.3	-	29	5002	c.4804C>T	c.(4804-4806)Cta>Tta	p.L1602L	ROS1_ENST00000368507.3_Silent_p.L1596L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1602	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGAATTAGGGCCAGGTGT	0.428			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(4804-4806)Cta>Tta		c-ros oncogene 1 , receptor tyrosine kinase							182.0	165.0	171.0					6																	117662661		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117662661G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4804C>T	6.37:g.117662661G>A						GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.L1596L	p.L1602L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	29	5002	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1602			Fibronectin type-III 7.		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.4804C>T	CCDS5116.1																																																																																				0.428	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			5	91	0	0	0	1	0	5	91				
EPHA3	2042	broad.mit.edu	37	3	89445000	89445000	+	Silent	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:89445000C>A	ENST00000336596.2	+	6	1545	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	EPHA3_ENST00000494014.1_Silent_p.V440V|EPHA3_ENST00000452448.2_Silent_p.V440V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	440	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATCACCTGTCCTGACGATTA	0.463										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1318-1320)gtC>gtA		EPH receptor A3							149.0	143.0	145.0					3																	89445000		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89445000C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1320C>A	3.37:g.89445000C>A		TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Silent_p.V440V|EPHA3_ENST00000452448.2_Silent_p.V440V	p.V440V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	6	1545	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	440			Fibronectin type-III 2.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.1320C>A	CCDS2922.1																																																																																				0.463	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		20	112	1	0	8.34094e-07	1	9.86259e-07	20	112				
AHRR	57491	broad.mit.edu	37	5	427996	427996	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:427996G>A	ENST00000505113.1	+	8	839	c.795G>A	c.(793-795)ccG>ccA	p.P265P	AHRR_ENST00000506456.1_Silent_p.P121P|AHRR_ENST00000512529.1_Silent_p.P111P|AHRR_ENST00000316418.5_Silent_p.P283P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	265					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCATGCTCCCGCCGCGGCTGT	0.557																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(847-849)ccG>ccA		aryl-hydrocarbon receptor repressor							24.0	28.0	27.0					5																	427996		1893	4106	5999	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:427996G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.795G>A	5.37:g.427996G>A						AHRR_ENST00000505113.1_Silent_p.P265P|AHRR_ENST00000506456.1_Silent_p.P121P|AHRR_ENST00000512529.1_Silent_p.P111P	p.P283P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		9	893	+			265					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.849G>A	CCDS56355.1																																																																																				0.557	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		14	36	0	0	0	1	0	14	36				
RBMX	27316	broad.mit.edu	37	X	135961213	135961213	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:135961213G>T	ENST00000320676.7	-	3	333	c.179C>A	c.(178-180)gCa>gAa	p.A60E	RBMX_ENST00000431446.3_Missense_Mutation_p.A60E|RBMX_ENST00000562646.1_Missense_Mutation_p.A60E|RBMX_ENST00000565438.1_Intron|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	60	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTAGCGTCTGCTGGGCTTTC	0.383																																						ENST00000562646.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(178-180)gCa>gAa		RNA binding motif protein, X-linked							155.0	133.0	140.0					X																	135961213		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961213G>T		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.179C>A	X.37:g.135961213G>T	ENSP00000359645:p.Ala60Glu					RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E	p.A60E			P38159	HNRPG_HUMAN			3	333	-	Acute lymphoblastic leukemia(192;0.000127)		60			RRM.		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.179C>A	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	4.649	0.120559	0.08881	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	D;D	0.83506	-1.73;-1.73	4.57	3.71	0.42584	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.232870	0.33834	U	0.004510	T	0.64461	0.2600	N	0.02865	-0.47	0.80722	D	1	B;B;B	0.23185	0.081;0.005;0.001	B;B;B	0.31869	0.137;0.01;0.005	T	0.56492	-0.7970	10	0.32370	T	0.25	.	9.3856	0.38340	0.0:0.1534:0.684:0.1626	.	60;60;47	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	E	60;60;47	ENSP00000411989:A60E;ENSP00000359645:A60E	ENSP00000359645:A60E	A	-	2	0	RBMX	135788879	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.164000	0.64954	0.746000	0.32786	-0.282000	0.10007	GCA		0.383	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		5	100	1	0	1	1	1	5	100				
IWS1	55677	broad.mit.edu	37	2	128262666	128262666	+	Silent	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:128262666G>C	ENST00000295321.4	-	3	1072	c.813C>G	c.(811-813)ccC>ccG	p.P271P	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Silent_p.P278P	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	271	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CACTGATTCGGGGTTTGGGAA	0.522																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(811-813)ccC>ccG		IWS1 homolog (S. cerevisiae)							140.0	151.0	147.0					2																	128262666		2203	4300	6503	SO:0001819	synonymous_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262666G>C	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.813C>G	2.37:g.128262666G>C						IWS1_ENST00000455721.2_Silent_p.P278P|AC010976.2_ENST00000599001.1_RNA	p.P271P	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1072	-	Colorectal(110;0.1)		271			3 X approximate tandem repeats.|Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	c.813C>G	CCDS2146.1																																																																																				0.522	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		32	275	0	0	0	1	0	32	275				
ZFYVE26	23503	broad.mit.edu	37	14	68272329	68272329	+	Missense_Mutation	SNP	C	C	T	rs200966618		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:68272329C>T	ENST00000347230.4	-	7	1162	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A342T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	342					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AATGTTAGTGCTGTTACCTGT	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		22021	0.001		0.0	False		,,,				2504	0.0					ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(1024-1026)Gca>Aca		zinc finger, FYVE domain containing 26							78.0	71.0	73.0					14																	68272329		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68272329C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1024G>A	14.37:g.68272329C>T	ENSP00000251119:p.Ala342Thr					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A342T	p.A342T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	7	1162	-			342					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.1024G>A	CCDS9788.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	34	5.316763	0.95682	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.50813	0.9;0.73	5.5	5.5	0.81552	.	0.055458	0.64402	D	0.000001	T	0.68155	0.2970	M	0.64997	1.995	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.976	T	0.68735	-0.5330	10	0.72032	D	0.01	-12.6991	19.6014	0.95563	0.0:1.0:0.0:0.0	.	342;342;342	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	T	342;321;342	ENSP00000251119:A342T;ENSP00000450603:A342T	ENSP00000251119:A342T	A	-	1	0	ZFYVE26	67342082	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.776000	0.75023	2.854000	0.98071	0.655000	0.94253	GCA		0.433	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		10	59	0	0	0	1	0	10	59				
PIK3C3	5289	broad.mit.edu	37	18	39607410	39607410	+	Silent	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr18:39607410T>C	ENST00000262039.4	+	14	1574	c.1488T>C	c.(1486-1488)taT>taC	p.Y496Y	PIK3C3_ENST00000593098.1_5'UTR|PIK3C3_ENST00000398870.3_Silent_p.Y433Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	496	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTTTAAGGTATGTGATAGTGG	0.333										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(1486-1488)taT>taC		phosphatidylinositol 3-kinase, catalytic subunit type 3							91.0	80.0	84.0					18																	39607410		2203	4300	6503	SO:0001819	synonymous_variant	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39607410T>C	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1488T>C	18.37:g.39607410T>C		TSP Lung(28;0.18)				PIK3C3_ENST00000593098.1_5'UTR|PIK3C3_ENST00000398870.3_Silent_p.Y433Y	p.Y496Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			14	1574	+			496					Q15134	Silent	SNP	ENST00000262039.4	37	c.1488T>C	CCDS11920.1																																																																																				0.333	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		3	38	0	0	0	1	0	3	38				
LYSMD1	388695	broad.mit.edu	37	1	151137675	151137675	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:151137675C>T	ENST00000368908.5	-	1	720	c.60G>A	c.(58-60)cgG>cgA	p.R20R	SCNM1_ENST00000368905.4_5'Flank|LYSMD1_ENST00000440902.2_Intron	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	20										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGAACGAGCCCGGCTCCCTT	0.622																																						ENST00000368908.5																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(58-60)cgG>cgA		LysM, putative peptidoglycan-binding, domain containing 1							52.0	54.0	53.0					1																	151137675		2203	4300	6503	SO:0001819	synonymous_variant	388695				cell wall macromolecule catabolic process			g.chr1:151137675C>T	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.60G>A	1.37:g.151137675C>T						LYSMD1_ENST00000440902.2_Intron	p.R20R	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	720	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		20					B4DQA1|Q69YX9	Silent	SNP	ENST00000368908.5	37	c.60G>A	CCDS986.1																																																																																				0.622	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		32	69	0	0	0	1	0	32	69				
ANK1	286	broad.mit.edu	37	8	41529908	41529908	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:41529908G>A	ENST00000347528.4	-	38	5143	c.5060C>T	c.(5059-5061)cCc>cTc	p.P1687L	ANK1_ENST00000352337.4_Missense_Mutation_p.P1687L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1687L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1728L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1687L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1687L|ANK1_ENST00000396942.1_Missense_Mutation_p.P1687L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1687	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCACGGTGGGGGAATGTGT	0.557																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5059-5061)cCc>cTc		ankyrin 1, erythrocytic							117.0	107.0	111.0					8																	41529908		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41529908G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5060C>T	8.37:g.41529908G>A	ENSP00000339620:p.Pro1687Leu					ANK1_ENST00000289734.7_Missense_Mutation_p.P1687L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1728L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1687L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1687L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1687L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1687L	p.P1687L			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	5143	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1687			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5060C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440060	0.43326	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.18	3.36	0.38483	.	0.057334	0.64402	D	0.000001	T	0.39835	0.1093	L	0.53249	1.67	0.58432	D	0.999999	P;P;B;B;P;P	0.52463	0.953;0.741;0.306;0.092;0.953;0.808	P;B;B;B;P;B	0.53861	0.736;0.372;0.118;0.033;0.628;0.206	T	0.21314	-1.0249	10	0.87932	D	0	.	9.6975	0.40167	0.0:0.1378:0.5767:0.2856	.	1728;1525;1687;1687;1687;841	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	L	1687;1687;1687;1687;1687;1687;1728	ENSP00000339620:P1687L;ENSP00000289734:P1687L;ENSP00000369082:P1687L;ENSP00000380149:P1687L;ENSP00000380147:P1687L;ENSP00000309131:P1687L;ENSP00000265709:P1728L	ENSP00000265709:P1728L	P	-	2	0	ANK1	41649065	1.000000	0.71417	0.037000	0.18230	0.405000	0.30901	6.344000	0.72991	0.701000	0.31803	0.545000	0.68477	CCC		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		8	96	0	0	0	1	0	8	96				
DEFB125	245938	broad.mit.edu	37	20	76981	76981	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:76981A>T	ENST00000382410.2	+	2	394	c.394A>T	c.(394-396)Act>Tct	p.T132S	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	132					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TACTCCCGAGACTACTATGCC	0.433																																						ENST00000382410.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(394-396)Act>Tct		defensin, beta 125							237.0	215.0	223.0					20																	76981		2203	4300	6503	SO:0001583	missense	245938				defense response to bacterium	extracellular region		g.chr20:76981A>T	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.394A>T	20.37:g.76981A>T	ENSP00000371847:p.Thr132Ser						p.T132S	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.156)		2	394	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	132					A1A502|Q7Z7B9	Missense_Mutation	SNP	ENST00000382410.2	37	c.394A>T	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	10.15	1.272365	0.23221	.	.	ENSG00000178591	ENST00000382410	T	0.12039	2.72	2.03	-2.63	0.06133	.	.	.	.	.	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	P	0.37233	0.588	B	0.33196	0.159	T	0.24870	-1.0148	9	0.87932	D	0	4.2373	0.0993	0.00046	0.3574:0.1986:0.1626:0.2814	.	132	Q8N687	DB125_HUMAN	S	132	ENSP00000371847:T132S	ENSP00000371847:T132S	T	+	1	0	DEFB125	24981	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.547000	0.06055	-0.727000	0.04888	0.460000	0.39030	ACT		0.433	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2	NM_153325		8	218	0	0	0	1	0	8	218				
KRT23	25984	broad.mit.edu	37	17	39084808	39084808	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:39084808C>T	ENST00000209718.3	-	5	1112	c.688G>A	c.(688-690)Gat>Aat	p.D230N	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.D93N	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	230	Linker 12.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGACCTGTATCCACCTTCACA	0.408																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(688-690)Gat>Aat		keratin 23 (histone deacetylase inducible)							185.0	175.0	179.0					17																	39084808		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39084808C>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.688G>A	17.37:g.39084808C>T	ENSP00000209718:p.Asp230Asn					KRT23_ENST00000436344.3_Missense_Mutation_p.D93N|AC004231.2_ENST00000418393.1_RNA	p.D230N	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			5	1112	-		Breast(137;0.000301)|Ovarian(249;0.15)	230			Linker 12.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.688G>A	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997092	0.19043	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.90197	-2.63;-2.63	5.5	-1.98	0.07480	Filament (1);	0.510250	0.17710	N	0.164625	T	0.81631	0.4863	N	0.25825	0.765	0.47862	D	0.999533	B	0.15719	0.014	B	0.17722	0.019	T	0.66316	-0.5954	10	0.37606	T	0.19	.	10.2881	0.43579	0.0:0.3755:0.0:0.6245	.	230	Q9C075	K1C23_HUMAN	N	230;93	ENSP00000209718:D230N;ENSP00000414056:D93N	ENSP00000209718:D230N	D	-	1	0	KRT23	36338334	1.000000	0.71417	0.141000	0.22245	0.166000	0.22503	1.419000	0.34793	-0.159000	0.11021	-0.123000	0.14984	GAT		0.408	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			19	157	0	0	0	1	0	19	157				
JPH2	57158	broad.mit.edu	37	20	42747201	42747201	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:42747201T>C	ENST00000372980.3	-	3	2104	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	411					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AATGTTGGACTCCTGGTTGGC	0.612																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1231-1233)gAg>gGg		junctophilin 2							101.0	103.0	102.0					20																	42747201		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42747201T>C	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1232A>G	20.37:g.42747201T>C	ENSP00000362071:p.Glu411Gly						p.E411G	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	2104	-		Myeloproliferative disorder(115;0.0122)	411					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1232A>G	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738586	0.89573	.	.	ENSG00000149596	ENST00000372980	T	0.65549	-0.16	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81711	-0.0808	10	0.87932	D	0	.	13.311	0.60380	0.0:0.0:0.0:1.0	.	411	Q9BR39	JPH2_HUMAN	G	411	ENSP00000362071:E411G	ENSP00000362071:E411G	E	-	2	0	JPH2	42180615	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.170000	0.77587	1.784000	0.52394	0.459000	0.35465	GAG		0.612	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			7	191	0	0	0	1	0	7	191				
AHNAK	79026	broad.mit.edu	37	11	62290041	62290041	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:62290041G>A	ENST00000378024.4	-	5	12122	c.11848C>T	c.(11848-11850)Cca>Tca	p.P3950S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3950					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTCTGGACCTTCTCCT	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11848-11850)Cca>Tca		AHNAK nucleoprotein							240.0	250.0	247.0					11																	62290041		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290041G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11848C>T	11.37:g.62290041G>A	ENSP00000367263:p.Pro3950Ser					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P3950S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12122	-		Melanoma(852;0.155)	3950					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11848C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	13.17	2.156385	0.38119	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.9	4.9	0.64082	.	0.000000	0.35805	U	0.002961	T	0.28764	0.0713	M	0.84082	2.675	0.42835	D	0.994035	D	0.67145	0.996	D	0.72982	0.979	T	0.09400	-1.0676	10	0.66056	D	0.02	-3.8538	17.672	0.88221	0.0:0.0:1.0:0.0	.	3950	Q09666	AHNK_HUMAN	S	3950	ENSP00000367263:P3950S	ENSP00000367263:P3950S	P	-	1	0	AHNAK	62046617	1.000000	0.71417	0.968000	0.41197	0.136000	0.21042	4.904000	0.63279	2.253000	0.74438	0.498000	0.49722	CCA		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		21	390	0	0	0	1	0	21	390				
ALPK2	115701	broad.mit.edu	37	18	56203847	56203847	+	Missense_Mutation	SNP	G	G	A	rs532039083		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr18:56203847G>A	ENST00000361673.3	-	5	3785	c.3572C>T	c.(3571-3573)aCg>aTg	p.T1191M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1191						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGACCCTCGTCCCCCAACC	0.557																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3571-3573)aCg>aTg		alpha-kinase 2							92.0	86.0	88.0					18																	56203847		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203847G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3572C>T	18.37:g.56203847G>A	ENSP00000354991:p.Thr1191Met					RP11-1151B14.4_ENST00000591360.1_RNA	p.T1191M	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3785	-			1191					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3572C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	6.623	0.483466	0.12581	.	.	ENSG00000198796	ENST00000361673	T	0.54675	0.56	4.99	2.11	0.27256	.	1.316200	0.04770	N	0.427769	T	0.38374	0.1038	N	0.15975	0.35	0.09310	N	1	B;B	0.27679	0.185;0.116	B;B	0.28232	0.087;0.04	T	0.35992	-0.9766	10	0.56958	D	0.05	-3.6697	7.4491	0.27227	0.1685:0.1397:0.6918:0.0	.	1186;1191	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	M	1191	ENSP00000354991:T1191M	ENSP00000354991:T1191M	T	-	2	0	ALPK2	54354827	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.132000	0.10467	0.026000	0.15269	-0.921000	0.02739	ACG		0.557	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		5	140	0	0	0	1	0	5	140				
COL19A1	1310	broad.mit.edu	37	6	70639416	70639416	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:70639416C>T	ENST00000322773.4	+	6	592	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	164	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCGAGAACTCCGTCCTTTGTT	0.393																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(490-492)Cgt>Tgt		collagen, type XIX, alpha 1							120.0	116.0	117.0					6																	70639416		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639416C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.490C>T	6.37:g.70639416C>T	ENSP00000316030:p.Arg164Cys						p.R164C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			6	592	+			164			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.490C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049568	0.19827	.	.	ENSG00000082293	ENST00000322773	T	0.15256	2.44	5.52	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.341651	0.27253	N	0.020208	T	0.14614	0.0353	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	P	0.50490	0.642	T	0.00918	-1.1515	10	0.39692	T	0.17	.	13.0037	0.58692	0.0:0.8762:0.0:0.1238	.	164	Q14993	COJA1_HUMAN	C	164	ENSP00000316030:R164C	ENSP00000316030:R164C	R	+	1	0	COL19A1	70696137	0.954000	0.32549	0.456000	0.27044	0.645000	0.38454	2.138000	0.42140	2.592000	0.87571	0.467000	0.42956	CGT		0.393	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			6	52	0	0	0	1	0	6	52				
SCN5A	6331	broad.mit.edu	37	3	38592951	38592951	+	Silent	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:38592951G>T	ENST00000333535.4	-	28	5061	c.4912C>A	c.(4912-4914)Cga>Aga	p.R1638R	SCN5A_ENST00000443581.1_Silent_p.R1637R|SCN5A_ENST00000425664.1_Silent_p.R1620R|SCN5A_ENST00000450102.2_Silent_p.R1584R|SCN5A_ENST00000413689.1_Silent_p.R1638R|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Silent_p.R1584R|SCN5A_ENST00000423572.2_Silent_p.R1637R|SCN5A_ENST00000455624.2_Silent_p.R1605R|SCN5A_ENST00000449557.2_Silent_p.R1584R|SCN5A_ENST00000414099.2_Silent_p.R1620R			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1638					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGGCCCCTCGGATCAGTCTG	0.587																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM067020	SCN5A	M		c.(4912-4914)Cga>Aga		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						105.0	106.0	105.0					3																	38592951		2203	4300	6503	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592951G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4912C>A	3.37:g.38592951G>T						SCN5A_ENST00000414099.2_Silent_p.R1620R|SCN5A_ENST00000451551.2_Silent_p.R1584R|SCN5A_ENST00000333535.4_Silent_p.R1638R|SCN5A_ENST00000450102.2_Silent_p.R1584R|SCN5A_ENST00000449557.2_Silent_p.R1584R|SCN5A_ENST00000455624.2_Silent_p.R1605R|SCN5A_ENST00000425664.1_Silent_p.R1620R|SCN5A_ENST00000423572.2_Silent_p.R1637R|SCN5A_ENST00000443581.1_Silent_p.R1637R	p.R1638R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5105	-	Medulloblastoma(35;0.163)		1638					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.4912C>A	CCDS46796.1																																																																																				0.587	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		9	156	1	0	1.12685e-05	1	1.29736e-05	9	156				
PYGL	5836	broad.mit.edu	37	14	51401885	51401885	+	Missense_Mutation	SNP	C	C	T	rs144099482		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:51401885C>T	ENST00000216392.7	-	3	696	c.364G>A	c.(364-366)Gag>Aag	p.E122K	PYGL_ENST00000544180.2_Missense_Mutation_p.E88K|PYGL_ENST00000532462.1_Missense_Mutation_p.E122K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	122					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TCTTCTAACTCTTCTATATCC	0.418													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22838	0.0		0.0	False		,,,				2504	0.0					ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(364-366)Gag>Aag		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	141.0	118.0	125.0		262,364	5.6	1.0	14	dbSNP_134	125	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PYGL	NM_001163940.1,NM_002863.4	56,56	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging	88/814,122/848	51401885	4,13002	2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51401885C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.364G>A	14.37:g.51401885C>T	ENSP00000216392:p.Glu122Lys					PYGL_ENST00000544180.2_Missense_Mutation_p.E88K|PYGL_ENST00000532462.1_Missense_Mutation_p.E122K	p.E122K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			3	696	-	all_epithelial(31;0.00825)|Breast(41;0.148)		122					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.364G>A	CCDS32080.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	35	5.441326	0.96187	0.0	4.65E-4	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.94457	-3.43;-3.43;-3.43	5.62	5.62	0.85841	.	0.044135	0.85682	D	0.000000	D	0.96318	0.8799	M	0.73319	2.225	0.80722	D	1	P;P;P	0.50710	0.899;0.763;0.938	P;B;P	0.55871	0.786;0.25;0.733	D	0.96191	0.9138	10	0.62326	D	0.03	-20.6032	18.9996	0.92828	0.0:1.0:0.0:0.0	.	88;144;122	F5H816;Q6P1L4;P06737	.;.;PYGL_HUMAN	K	122;88;122	ENSP00000431657:E122K;ENSP00000443787:E88K;ENSP00000216392:E122K	ENSP00000216392:E122K	E	-	1	0	PYGL	50471635	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.503000	0.81632	2.797000	0.96272	0.555000	0.69702	GAG		0.418	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		4	36	0	0	0	1	0	4	36				
GPR126	57211	broad.mit.edu	37	6	142691627	142691627	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:142691627G>T	ENST00000230173.6	+	4	1242	c.766G>T	c.(766-768)Gtt>Ttt	p.V256F	GPR126_ENST00000367608.2_Missense_Mutation_p.V256F|GPR126_ENST00000296932.8_Missense_Mutation_p.V256F|GPR126_ENST00000367609.3_Missense_Mutation_p.V256F|GPR126_ENST00000545477.1_Intron	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	256	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V256F(1)|p.V255F(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GCTCTGCCTTGTTTGGAATAA	0.333																																						ENST00000230173.6																			2	Substitution - Missense(2)	p.V256F(1)|p.V255F(1)	lung(2)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(766-768)Gtt>Ttt		G protein-coupled receptor 126							82.0	83.0	83.0					6																	142691627		1819	4070	5889	SO:0001583	missense	0				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691627G>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.766G>T	6.37:g.142691627G>T	ENSP00000230173:p.Val256Phe					GPR126_ENST00000296932.8_Missense_Mutation_p.V256F|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Missense_Mutation_p.V256F|GPR126_ENST00000367609.3_Missense_Mutation_p.V256F	p.V256F	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	1242	+	Breast(32;0.176)		256			Pentaxin.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.766G>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	8.949	0.967816	0.18659	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.5	-1.11	0.09840	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.263410	0.05402	N	0.540829	T	0.33527	0.0866	L	0.40543	1.245	0.09310	N	1	P;P;P;P	0.41393	0.483;0.483;0.704;0.748	B;B;B;B	0.40410	0.22;0.22;0.22;0.328	T	0.36504	-0.9745	10	0.72032	D	0.01	.	6.3406	0.21321	0.4253:0.1184:0.4563:0.0	.	256;256;256;256	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	F	256	ENSP00000230173:V256F;ENSP00000356580:V256F;ENSP00000296932:V256F;ENSP00000356581:V256F	ENSP00000230173:V256F	V	+	1	0	GPR126	142733320	0.001000	0.12720	0.001000	0.08648	0.283000	0.27025	0.199000	0.17237	0.015000	0.14971	-0.145000	0.13849	GTT		0.333	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			5	59	1	0	0.000602214	1	0.000658672	5	59				
CPNE9	151835	broad.mit.edu	37	3	9771372	9771372	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:9771372C>T	ENST00000383832.3	+	21	1848	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L	BRPF1_ENST00000424362.1_5'Flank|BRPF1_ENST00000383829.2_5'Flank|BRPF1_ENST00000302054.3_5'Flank|BRPF1_ENST00000433861.2_5'Flank	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	553						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCAGAGCAGCCCTGAGGATTC	0.612																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1657-1659)cCc>cTc		copine family member IX							30.0	36.0	34.0					3																	9771372		2053	4175	6228	SO:0001583	missense	151835							g.chr3:9771372C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1658C>T	3.37:g.9771372C>T	ENSP00000373343:p.Pro553Leu						p.P553L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			21	1848	+	Medulloblastoma(99;0.227)		553					A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.1658C>T	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938355	0.52972	.	.	ENSG00000144550	ENST00000383832	T	0.05319	3.46	5.22	4.35	0.52113	.	4.875560	0.02201	U	0.062273	T	0.07863	0.0197	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29088	-1.0023	10	0.87932	D	0	.	7.765	0.28974	0.0:0.8127:0.0:0.1873	.	553	Q8IYJ1	CPNE9_HUMAN	L	553	ENSP00000373343:P553L	ENSP00000373343:P553L	P	+	2	0	CPNE9	9746372	0.002000	0.14202	0.996000	0.52242	0.995000	0.86356	-0.019000	0.12546	1.167000	0.42706	0.655000	0.94253	CCC		0.612	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		4	42	0	0	0	1	0	4	42				
SLC6A5	9152	broad.mit.edu	37	11	20622994	20622994	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:20622994C>G	ENST00000525748.1	+	2	596	c.323C>G	c.(322-324)cCt>cGt	p.P108R		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	108					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCTCGCCCCCTCCCGGGAGC	0.697																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(322-324)cCt>cGt		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						20.0	24.0	23.0					11																	20622994		2201	4290	6491	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20622994C>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.323C>G	11.37:g.20622994C>G	ENSP00000434364:p.Pro108Arg						p.P108R	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			2	596	+			108					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.323C>G	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	1.916	-0.449446	0.04572	.	.	ENSG00000165970	ENST00000525748	T	0.71103	-0.54	5.6	-0.729	0.11158	.	2.324770	0.01789	N	0.032195	T	0.54549	0.1865	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.38908	-0.9639	10	0.52906	T	0.07	.	4.0942	0.09983	0.2449:0.4238:0.0:0.3313	.	108	Q9Y345	SC6A5_HUMAN	R	108	ENSP00000434364:P108R	ENSP00000298923:P108R	P	+	2	0	SLC6A5	20579570	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.242000	0.08928	-0.412000	0.07519	-2.323000	0.00251	CCT		0.697	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		3	23	0	0	0	1	0	3	23				
PRB3	5544	broad.mit.edu	37	12	11421037	11421037	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:11421037C>T	ENST00000279573.7	-	3	281	c.146G>A	c.(145-147)cGt>cAt	p.R49H	PRB3_ENST00000538488.1_Missense_Mutation_p.R49H|PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000381842.3_Missense_Mutation_p.R49H			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	49	Pro-rich.			PQRTPPP -> SQGPPPR (in Ref. 1; CAA30728). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			AGGTGGGGTACGTTGGGGCTG	0.582																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							150.0	151.0	151.0					12																	11421037		2194	4294	6488	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11421037C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.146G>A	12.37:g.11421037C>T	ENSP00000279573:p.Arg49His					PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	183	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	7.102	0.574281	0.13623	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05199	3.48;3.48	0.714	0.714	0.18180	.	9.167660	0.01311	U	0.010612	T	0.04634	0.0126	.	.	.	0.09310	N	1	B	0.29481	0.245	B	0.04013	0.001	T	0.32613	-0.9900	9	0.45353	T	0.12	.	4.8748	0.13651	0.0:1.0:0.0:0.0	.	49	Q04118	PRB3_HUMAN	H	49	ENSP00000371264:R49H;ENSP00000442626:R49H	ENSP00000279573:R49H	R	-	2	0	PRB3	11312304	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.707000	0.05041	0.688000	0.31529	0.074000	0.15403	CGT		0.582	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		53	163	0	0	0	1	0	53	163				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						ENST00000375299.3																			8	Substitution - coding silent(8)	p.L91L(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(271-273)Ctg>Ttg		UPF3 regulator of nonsense transcripts homolog A (yeast)							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_ENST00000351487.5_Silent_p.L91L	p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	327	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			3	9	0	0	0	1	0	3	9				
CELF2	10659	broad.mit.edu	37	10	11317020	11317020	+	Splice_Site	SNP	C	C	A	rs200272355		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:11317020C>A	ENST00000379261.4	+	8	849	c.757C>A	c.(757-759)Ctc>Atc	p.L253I	CELF2_ENST00000542579.1_Splice_Site_p.L260I|CELF2_ENST00000399850.3_Splice_Site_p.L229I|CELF2_ENST00000609692.1_Splice_Site_p.L229I|CELF2_ENST00000537122.1_Splice_Site_p.L142I|CELF2_ENST00000427450.1_Splice_Site_p.L229I|CELF2_ENST00000354897.3_Splice_Site_p.L229I|CELF2_ENST00000354440.2_Splice_Site_p.L229I|CELF2_ENST00000417956.2_Splice_Site_p.L229I|CELF2_ENST00000315874.4_Splice_Site_p.L229I|CELF2_ENST00000608830.1_Splice_Site_p.L229I|CELF2_ENST00000450189.1_Splice_Site_p.L260I|CELF2_ENST00000416382.2_Splice_Site_p.L253I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	253	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TCATCCGCAGCTCCTGCAGCA	0.527																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.e8-1		CUGBP, Elav-like family member 2							153.0	162.0	159.0					10																	11317020		2150	4244	6394	SO:0001630	splice_region_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11317020C>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.757-1C>A	10.37:g.11317020C>A						CELF2_ENST00000399850.3_Splice_Site_p.L229_splice|CELF2_ENST00000417956.2_Splice_Site_p.L229_splice|CELF2_ENST00000416382.2_Splice_Site_p.L253_splice|CELF2_ENST00000354440.2_Splice_Site_p.L229_splice|CELF2_ENST00000450189.1_Splice_Site_p.L260_splice|CELF2_ENST00000542579.1_Splice_Site_p.L260_splice|CELF2_ENST00000427450.1_Splice_Site_p.L229_splice|CELF2_ENST00000354897.3_Splice_Site_p.L229_splice|CELF2_ENST00000537122.1_Splice_Site_p.L142_splice|CELF2_ENST00000315874.3_Splice_Site_p.L229_splice	p.L253_splice	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			8	849	+			253			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Splice_Site	SNP	ENST00000379261.4	37	c.756_splice	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255308	0.59321	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	D;D;T;T;T;T;T;T;T;T	0.81821	-1.54;-1.54;-0.62;-0.62;-0.52;-0.53;-0.52;-0.52;-0.52;2.13	5.36	5.36	0.76844	.	0.061411	0.64402	D	0.000005	D	0.86863	0.6035	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.996;0.997;0.993;0.999;0.998	D;D;D;D;D;D;D	0.81914	0.985;0.99;0.986;0.978;0.967;0.995;0.985	D	0.85545	0.1218	9	.	.	.	-8.9502	19.0854	0.93201	0.0:1.0:0.0:0.0	.	237;253;25;248;260;248;253	B4DDE7;B4DS31;B4DMB0;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	I	253;253;260;260;229;229;229;229;229;229;142;59	ENSP00000368563:L253I;ENSP00000406451:L253I;ENSP00000389951:L260I;ENSP00000443926:L260I;ENSP00000382743:L229I;ENSP00000404834:L229I;ENSP00000315328:L229I;ENSP00000346426:L229I;ENSP00000388530:L229I;ENSP00000438884:L142I	.	L	+	1	0	CELF2	11357026	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	5.373000	0.66162	2.500000	0.84329	0.561000	0.74099	CTC		0.527	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Missense_Mutation	26	129	1	0	1.5548e-18	1	1.9435e-18	26	129				
UGT2B11	10720	broad.mit.edu	37	4	70074167	70074167	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr4:70074167T>A	ENST00000446444.1	-	3	912	c.904A>T	c.(904-906)Aat>Tat	p.N302Y	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	302					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAACACCATTTTCTCCAGAG	0.423																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(904-906)Aat>Tat		UDP glucuronosyltransferase 2 family, polypeptide B11							150.0	150.0	150.0					4																	70074167		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70074167T>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.904A>T	4.37:g.70074167T>A	ENSP00000387683:p.Asn302Tyr					RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.N302Y	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			3	912	-			302					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.904A>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	0.912	-0.718639	0.03182	.	.	ENSG00000213759	ENST00000446444	T	0.62941	-0.01	1.96	-3.91	0.04168	.	0.240698	0.31797	U	0.007043	T	0.58807	0.2148	M	0.87900	2.915	0.19775	N	0.999957	B	0.06786	0.001	B	0.12156	0.007	T	0.54768	-0.8244	10	0.72032	D	0.01	.	7.2958	0.26393	0.0:0.152:0.6516:0.1964	.	302	O75310	UDB11_HUMAN	Y	302	ENSP00000387683:N302Y	ENSP00000387683:N302Y	N	-	1	0	UGT2B11	70108756	0.853000	0.29707	0.757000	0.31301	0.089000	0.18198	0.231000	0.17872	-1.122000	0.02945	0.155000	0.16302	AAT		0.423	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		12	177	0	0	0	1	0	12	177				
HDLBP	3069	broad.mit.edu	37	2	242189366	242189366	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:242189366A>C	ENST00000391975.1	-	12	1629	c.1402T>G	c.(1402-1404)Tcc>Gcc	p.S468A	HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000427183.2_Missense_Mutation_p.S435A|HDLBP_ENST00000391976.2_Missense_Mutation_p.S468A|HDLBP_ENST00000310931.4_Missense_Mutation_p.S468A	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	468	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATGCGCACGGACACCTTGTAC	0.517																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1402-1404)Tcc>Gcc		high density lipoprotein binding protein							247.0	187.0	207.0					2																	242189366		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242189366A>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1402T>G	2.37:g.242189366A>C	ENSP00000375836:p.Ser468Ala					HDLBP_ENST00000391976.2_Missense_Mutation_p.S468A|HDLBP_ENST00000427183.2_Missense_Mutation_p.S435A|HDLBP_ENST00000310931.4_Missense_Mutation_p.S468A|HDLBP_ENST00000476807.1_5'UTR	p.S468A	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	12	1629	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	468			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1402T>G	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.21|15.21	2.766866|2.766866	0.49574|0.49574	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	T;T;T;T|T	0.32515|0.53206	1.45;1.45;1.45;1.45|0.63	5.6|5.6	5.6|5.6	0.85130|0.85130	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.101081|.	0.64402|.	D|.	0.000001|.	T|T	0.63200|0.63200	0.2491|0.2491	M|M	0.66939|0.66939	2.045|2.045	0.50467|0.50467	D|D	0.999877|0.999877	B;P|.	0.44429|.	0.239;0.835|.	B;P|.	0.50570|.	0.403;0.644|.	T|T	0.66023|0.66023	-0.6026|-0.6026	10|7	0.13108|0.66056	T|D	0.6|0.02	-15.9272|-15.9272	16.0858|16.0858	0.81049|0.81049	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	435;468|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	A|G	468;468;468;435|276	ENSP00000375836:S468A;ENSP00000375837:S468A;ENSP00000312042:S468A;ENSP00000399139:S435A|ENSP00000362389:V276G	ENSP00000312042:S468A|ENSP00000362389:V276G	S|V	-|-	1|2	0|0	HDLBP|HDLBP	241838039|241838039	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	4.913000|4.913000	0.63341|0.63341	2.264000|2.264000	0.75181|0.75181	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.517	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		7	115	0	0	0	1	0	7	115				
EGR1	1958	broad.mit.edu	37	5	137803632	137803632	+	Silent	SNP	G	G	A	rs201207618		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:137803632G>A	ENST00000239938.4	+	2	1766	c.1494G>A	c.(1492-1494)acG>acA	p.T498T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	498					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGGCCACCACGTACTCCTCTG	0.637																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1492-1494)acG>acA		early growth response 1							134.0	124.0	128.0					5																	137803632		2203	4300	6503	SO:0001819	synonymous_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803632G>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1494G>A	5.37:g.137803632G>A							p.T498T	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1766	+			498						Silent	SNP	ENST00000239938.4	37	c.1494G>A	CCDS4206.1																																																																																				0.637	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		18	226	0	0	0	1	0	18	226				
SCN2A	6326	broad.mit.edu	37	2	166245953	166245953	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:166245953G>T	ENST00000375437.2	+	27	5927	c.5637G>T	c.(5635-5637)atG>atT	p.M1879I	SCN2A_ENST00000375427.2_Missense_Mutation_p.M1879I|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1879I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1879I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1879					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATACAGATGGAAGAGCGAT	0.463																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5635-5637)atG>atT		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						109.0	96.0	100.0					2																	166245953		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245953G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5637G>T	2.37:g.166245953G>T	ENSP00000364586:p.Met1879Ile					SCN2A_ENST00000283256.6_Missense_Mutation_p.M1879I|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1879I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1879I	p.M1879I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			27	5927	+			1879					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5637G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201097	0.58234	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.67397	2.05	0.80722	D	1	P;B	0.34412	0.453;0.436	B;D	0.63957	0.431;0.92	D	0.97810	1.0250	10	0.66056	D	0.02	.	19.8849	0.96909	0.0:0.0:1.0:0.0	.	1879;1879	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1879	ENSP00000364586:M1879I;ENSP00000349973:M1879I;ENSP00000283256:M1879I;ENSP00000364576:M1879I	ENSP00000283256:M1879I	M	+	3	0	SCN2A	165954199	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.762000	0.98944	2.781000	0.95711	0.580000	0.79431	ATG		0.463	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		4	81	1	0	2.56e-06	1	3.00671e-06	4	81				
CFAP70	118491	broad.mit.edu	37	10	75029381	75029381	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:75029381G>A	ENST00000310715.3	-	26	3348	c.3228C>T	c.(3226-3228)gtC>gtT	p.V1076V	DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000394865.1_Silent_p.V1046V|TTC18_ENST00000340329.3_Silent_p.V316V|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Silent_p.V545V|TTC18_ENST00000401621.2_Silent_p.V1076V	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		1076						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTTTCAGGCAGACCAGAGCCA	0.483																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3226-3228)gtC>gtT		tetratricopeptide repeat domain 18							171.0	139.0	150.0					10																	75029381		2203	4300	6503	SO:0001819	synonymous_variant	118491						binding	g.chr10:75029381G>A																												ENST00000310715.3:c.3228C>T	10.37:g.75029381G>A						TTC18_ENST00000493787.1_Intron|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000355577.3_Silent_p.V545V|TTC18_ENST00000340329.3_Silent_p.V316V|TTC18_ENST00000310715.3_Silent_p.V1076V|TTC18_ENST00000394865.1_Silent_p.V1046V	p.V1076V			Q5T0N1	TTC18_HUMAN			26	3348	-	Prostate(51;0.0119)		1076					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	c.3228C>T	CCDS7324.3																																																																																				0.483	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	66	0	0	0	1	0	7	66				
ATP11B	23200	broad.mit.edu	37	3	182587060	182587060	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182587060C>T	ENST00000323116.5	+	17	2067	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	603					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCAATTCTCCCTAAATGTAT	0.284																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(1807-1809)Cct>Tct		ATPase, class VI, type 11B							39.0	39.0	39.0					3																	182587060		2201	4290	6491	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182587060C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1807C>T	3.37:g.182587060C>T	ENSP00000321195:p.Pro603Ser						p.P603S	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		17	2067	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		603					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.1807C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759807	0.69763	.	.	ENSG00000058063	ENST00000323116	T	0.69561	-0.41	5.63	4.76	0.60689	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.162432	0.56097	N	0.000027	T	0.68650	0.3024	L	0.28776	0.89	0.80722	D	1	D;P	0.59767	0.986;0.87	P;P	0.62184	0.899;0.633	T	0.71148	-0.4677	10	0.66056	D	0.02	.	10.6604	0.45698	0.0:0.8545:0.0:0.1455	.	177;603	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	S	603	ENSP00000321195:P603S	ENSP00000321195:P603S	P	+	1	0	ATP11B	184069754	1.000000	0.71417	0.889000	0.34880	0.936000	0.57629	6.091000	0.71406	1.389000	0.46526	-0.142000	0.14014	CCT		0.284	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		4	21	0	0	0	1	0	4	21				
RFTN1P1	360015	broad.mit.edu	37	Y	7644671	7644671	+	RNA	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrY:7644671G>T	ENST00000442584.2	-	0	490									raftlin, lipid raft linker 1 pseudogene 1																		GAGAAGCCCTGTTGGTACAGC	0.577																																						ENST00000442584.2																			0																																																			0							g.chrY:7644671G>T			Yp11.2	2010-04-09			ENSG00000241916	ENSG00000234795			23971	pseudogene	pseudogene						12815422	Standard	NG_002933		Approved				OTTHUMG00000041013		Y.37:g.7644671G>T														0	490	-									RNA	SNP	ENST00000442584.2	37																																																																																						0.577	RFTN1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471806.1	NG_002933		3	3	1	0	0.004672	1	0.0049253	3	3				
DMRTA2	63950	broad.mit.edu	37	1	50885066	50885066	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:50885066C>T	ENST00000404795.3	-	3	1292	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DMRTA2_ENST00000418121.1_Silent_p.A300A	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	300	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CTGGCGCCGGCGCGGCCTCAC	0.721																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(898-900)gcG>gcA		DMRT-like family A2							27.0	28.0	28.0					1																	50885066		1653	3737	5390	SO:0001819	synonymous_variant	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50885066C>T	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.900G>A	1.37:g.50885066C>T						DMRTA2_ENST00000418121.1_Silent_p.A300A	p.A300A	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1292	-			300			Gly-rich.		Q5TFQ3	Silent	SNP	ENST00000404795.3	37	c.900G>A	CCDS44141.1																																																																																				0.721	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		9	111	0	0	0	1	0	9	111				
SELP	6403	broad.mit.edu	37	1	169582313	169582313	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:169582313A>G	ENST00000263686.6	-	5	666	c.629T>C	c.(628-630)cTc>cCc	p.L210P	SELP_ENST00000367786.2_Missense_Mutation_p.L210P|SELP_ENST00000367793.2_Missense_Mutation_p.L210P|SELP_ENST00000367794.2_Missense_Mutation_p.L210P|SELP_ENST00000367788.2_Missense_Mutation_p.L210P|SELP_ENST00000367792.2_Missense_Mutation_p.L210P|SELP_ENST00000367791.2_Missense_Mutation_p.L210P|SELP_ENST00000458599.2_Missense_Mutation_p.L210P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	210	Sushi 1. {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)	GCAGTTCATGAGCACGTGTTG	0.463																																						ENST00000263686.6																			0				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						c.(628-630)cTc>cCc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						87.0	78.0	81.0					1																	169582313		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.chr1:169582313A>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.629T>C	1.37:g.169582313A>G	ENSP00000263686:p.Leu210Pro					SELP_ENST00000367792.2_Missense_Mutation_p.L210P|SELP_ENST00000367794.2_Missense_Mutation_p.L210P|SELP_ENST00000367788.2_Missense_Mutation_p.L210P|SELP_ENST00000367793.2_Missense_Mutation_p.L210P|SELP_ENST00000458599.2_Missense_Mutation_p.L210P|SELP_ENST00000367786.2_Missense_Mutation_p.L210P|SELP_ENST00000367791.2_Missense_Mutation_p.L210P	p.L210P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			5	666	-	all_hematologic(923;0.208)		210			Sushi 1.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.629T>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.537149	0.27475	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.98	-0.911	0.10507	Complement control module (2);Sushi/SCR/CCP (2);	0.866963	0.09952	N	0.734496	T	0.35740	0.0942	M	0.77313	2.365	0.19775	N	0.99996	P;B;P	0.41265	0.744;0.002;0.699	P;B;P	0.52514	0.701;0.014;0.506	T	0.36720	-0.9736	10	0.35671	T	0.21	-3.0497	0.6137	0.00766	0.4377:0.1901:0.1434:0.2287	.	210;210;210	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	P	210;210;209;210;210;210;210;210;210;210;210;210;195	ENSP00000263686:L210P;ENSP00000356767:L210P;ENSP00000356768:L210P;ENSP00000356766:L210P;ENSP00000356765:L210P;ENSP00000356762:L210P;ENSP00000356760:L210P	ENSP00000263686:L210P	L	-	2	0	SELP	167848937	0.000000	0.05858	0.003000	0.11579	0.123000	0.20343	-0.264000	0.08658	0.161000	0.19458	0.533000	0.62120	CTC		0.463	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		14	57	0	0	0	1	0	14	57				
TRGV2	6974	broad.mit.edu	37	7	38403051	38403051	+	RNA	SNP	G	G	C	rs4993385	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:38403051G>C	ENST00000426402.2	-	0	68									T cell receptor gamma variable 2																		GTAGGAGGAGGTGGTCTTCCT	0.527													C|||	930	0.185703	0.2035	0.2118	5008	,	,		20608	0.1647		0.2147	False		,,,				2504	0.135					ENST00000426402.2																			0																																																			0							g.chr7:38403051G>C	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38403051G>C														0	68	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.527	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		5	9	0	0	0	1	0	5	9				
TBX18	9096	broad.mit.edu	37	6	85446703	85446703	+	Silent	SNP	G	G	A	rs114400107		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:85446703G>A	ENST00000369663.5	-	8	1861	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	508					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F508F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGTTAGTGGCGAAGGCATTGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19335	0.001		0.0	False		,,,				2504	0.0					ENST00000369663.5																			1	Substitution - coding silent(1)	p.F508F(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1522-1524)ttC>ttT		T-box 18		G		0,4406		0,0,2203	152.0	163.0	159.0		1524	-0.1	1.0	6	dbSNP_132	159	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TBX18	NM_001080508.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		508/608	85446703	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446703G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1524C>T	6.37:g.85446703G>A						TBX18_ENST00000606784.1_Intron	p.F508F	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1861	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	508					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1524C>T	CCDS34495.1																																																																																				0.507	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		16	196	0	0	0	1	0	16	196				
OR10Q1	219960	broad.mit.edu	37	11	57995624	57995624	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:57995624C>A	ENST00000316770.2	-	1	766	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	242						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)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTGGAGAAGGCCCGGCGGCGG	0.627																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(724-726)Gcc>Tcc		olfactory receptor, family 10, subfamily Q, member 1							62.0	57.0	59.0					11																	57995624		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995624C>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.724G>T	11.37:g.57995624C>A	ENSP00000314324:p.Ala242Ser						p.A242S	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	766	-		Breast(21;0.0589)	242					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.724G>T	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253870	0.80135	.	.	ENSG00000180475	ENST00000316770	T	0.00359	7.87	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000716	T	0.01222	0.0040	M	0.92317	3.295	0.31659	N	0.645829	D	0.89917	1.0	D	0.91635	0.999	T	0.04811	-1.0925	10	0.87932	D	0	.	16.4375	0.83882	0.0:1.0:0.0:0.0	.	242	Q8NGQ4	O10Q1_HUMAN	S	242	ENSP00000314324:A242S	ENSP00000314324:A242S	A	-	1	0	OR10Q1	57752200	0.997000	0.39634	0.975000	0.42487	0.886000	0.51366	3.698000	0.54771	2.460000	0.83146	0.479000	0.44913	GCC		0.627	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		7	92	1	0	0.0381472	1	0.0388126	7	92				
SSMEM1	136263	broad.mit.edu	37	7	129853359	129853359	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:129853359A>T	ENST00000297819.3	+	2	274	c.223A>T	c.(223-225)Act>Tct	p.T75S		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	75						integral component of membrane (GO:0016021)											TGGGACAAGTACTTCAGTAAG	0.408																																						ENST00000297819.3																			0											c.(223-225)Act>Tct		serine-rich single-pass membrane protein 1							230.0	181.0	197.0					7																	129853359		2203	4300	6503	SO:0001583	missense	136263							g.chr7:129853359A>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.223A>T	7.37:g.129853359A>T	ENSP00000297819:p.Thr75Ser						p.T75S	NM_145268.3	NP_660311.1					2	274	+									Missense_Mutation	SNP	ENST00000297819.3	37	c.223A>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	A	2.358	-0.347289	0.05208	.	.	ENSG00000165120	ENST00000297819	T	0.43294	0.95	5.72	-2.61	0.06171	.	0.902018	0.09585	N	0.782326	T	0.27900	0.0687	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.30966	-0.9960	10	0.16896	T	0.51	-0.4566	11.0778	0.48043	0.4984:0.0:0.5016:0.0	.	75	Q8WWF3	CG045_HUMAN	S	75	ENSP00000297819:T75S	ENSP00000297819:T75S	T	+	1	0	C7orf45	129640595	0.000000	0.05858	0.012000	0.15200	0.383000	0.30230	-0.355000	0.07671	-0.360000	0.08138	-0.421000	0.06004	ACT		0.408	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		5	66	0	0	0	1	0	5	66				
MYLK2	85366	broad.mit.edu	37	20	30409476	30409476	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30409476G>T	ENST00000375994.2	+	3	981	c.708G>T	c.(706-708)gaG>gaT	p.E236D	MYLK2_ENST00000375985.4_Missense_Mutation_p.E236D			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	236					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTCCCTCAGAGAAATCCGAGG	0.632																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(706-708)gaG>gaT		myosin light chain kinase 2							87.0	97.0	94.0					20																	30409476		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30409476G>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.708G>T	20.37:g.30409476G>T	ENSP00000365162:p.Glu236Asp					MYLK2_ENST00000375985.4_Missense_Mutation_p.E236D	p.E236D			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	981	+			236					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.708G>T	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247045	0.39697	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.68181	-0.31;-0.31	4.82	3.79	0.43588	.	.	.	.	.	T	0.59555	0.2202	M	0.65975	2.015	0.29698	N	0.840436	B	0.17465	0.022	B	0.14023	0.01	T	0.50575	-0.8812	9	0.20519	T	0.43	.	7.1679	0.25702	0.1228:0.0:0.8772:0.0	.	236	Q9H1R3	MYLK2_HUMAN	D	236	ENSP00000365162:E236D;ENSP00000365152:E236D	ENSP00000365152:E236D	E	+	3	2	MYLK2	29873137	0.977000	0.34250	0.983000	0.44433	0.976000	0.68499	2.885000	0.48570	2.516000	0.84829	0.561000	0.74099	GAG		0.632	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		22	118	1	0	4.26978e-12	1	5.22525e-12	22	118				
SPEG	10290	broad.mit.edu	37	2	220350132	220350132	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:220350132A>G	ENST00000312358.7	+	31	7806	c.7674A>G	c.(7672-7674)ttA>ttG	p.L2558L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2558					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACAAGGGGTTATCGCCACCAA	0.612																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(7672-7674)ttA>ttG		SPEG complex locus							56.0	63.0	61.0					2																	220350132		2121	4221	6342	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220350132A>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7674A>G	2.37:g.220350132A>G						SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	p.L2558L	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	31	7806	+		Renal(207;0.0183)	2558					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.7674A>G	CCDS42824.1																																																																																				0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	107	0	0	0	1	0	4	107				
PLXNA1	5361	broad.mit.edu	37	3	126748316	126748316	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:126748316A>G	ENST00000393409.2	+	26	4807	c.4807A>G	c.(4807-4809)Aag>Gag	p.K1603E	PLXNA1_ENST00000251772.4_Missense_Mutation_p.K1580E	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1603					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGGTGCCCAAGCAGACGTC	0.667																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4807-4809)Aag>Gag		plexin A1							131.0	125.0	127.0					3																	126748316		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126748316A>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4807A>G	3.37:g.126748316A>G	ENSP00000377061:p.Lys1603Glu					PLXNA1_ENST00000251772.4_Missense_Mutation_p.K1580E	p.K1603E	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	26	4807	+			1603						Missense_Mutation	SNP	ENST00000393409.2	37	c.4807A>G	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724071	0.89298	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12465	2.68;2.68	3.91	3.91	0.45181	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000004	T	0.41465	0.1160	M	0.87180	2.865	0.80722	D	1	P;D	0.76494	0.945;0.999	P;D	0.87578	0.854;0.998	T	0.50224	-0.8853	10	0.72032	D	0.01	.	13.2148	0.59854	1.0:0.0:0.0:0.0	.	217;1603	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	E	1603;1580	ENSP00000377061:K1603E;ENSP00000251772:K1580E	ENSP00000251772:K1580E	K	+	1	0	PLXNA1	128231006	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.066000	0.93949	1.767000	0.52121	0.383000	0.25322	AAG		0.667	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		11	178	0	0	0	1	0	11	178				
WDR33	55339	broad.mit.edu	37	2	128477088	128477088	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:128477088C>A	ENST00000322313.4	-	16	2669	c.2511G>T	c.(2509-2511)caG>caT	p.Q837H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	837					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTGGAGGCCCCTGCATGCCTC	0.632																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2509-2511)caG>caT		WD repeat domain 33							32.0	35.0	34.0					2																	128477088		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477088C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2511G>T	2.37:g.128477088C>A	ENSP00000325377:p.Gln837His						p.Q837H	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2669	-	Colorectal(110;0.1)		837					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2511G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193126	0.58017	.	.	ENSG00000136709	ENST00000322313	D	0.89746	-2.56	5.39	3.57	0.40892	.	0.345498	0.28901	N	0.013775	T	0.75547	0.3864	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67707	-0.5601	10	0.54805	T	0.06	-0.4845	7.2208	0.25985	0.0:0.7103:0.1401:0.1496	.	837	Q9C0J8	WDR33_HUMAN	H	837	ENSP00000325377:Q837H	ENSP00000325377:Q837H	Q	-	3	2	WDR33	128193558	0.999000	0.42202	0.996000	0.52242	0.950000	0.60333	0.713000	0.25794	0.735000	0.32537	0.563000	0.77884	CAG		0.632	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		22	37	1	0	1.96292e-10	1	2.36904e-10	22	37				
ATP11B	23200	broad.mit.edu	37	3	182587059	182587059	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182587059C>T	ENST00000323116.5	+	17	2066	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	602					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CATCAATTCTCCCTAAATGTA	0.284																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(1804-1806)ctC>ctT		ATPase, class VI, type 11B							39.0	40.0	40.0					3																	182587059		2201	4290	6491	SO:0001819	synonymous_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182587059C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1806C>T	3.37:g.182587059C>T							p.L602L	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		17	2066	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		602					Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	c.1806C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	8.354	0.831658	0.16820	.	.	ENSG00000058063	ENST00000498086	.	.	.	5.63	-3.28	0.05033	.	.	.	.	.	T	0.63546	0.2520	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62950	-0.6745	4	.	.	.	.	13.9691	0.64228	0.0:0.1615:0.0:0.8385	.	.	.	.	F	403	.	.	S	+	2	0	ATP11B	184069753	0.428000	0.25522	0.856000	0.33681	0.939000	0.58152	-0.419000	0.07071	-0.499000	0.06623	-0.355000	0.07637	TCC		0.284	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		4	20	0	0	0	1	0	4	20				
KIF3B	9371	broad.mit.edu	37	20	30897748	30897748	+	Silent	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30897748C>G	ENST00000375712.3	+	2	335	c.168C>G	c.(166-168)acC>acG	p.T56T	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	56	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCCCAAGACCTTCACCTTTG	0.498																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(166-168)acC>acG		kinesin family member 3B							160.0	136.0	144.0					20																	30897748		2203	4300	6503	SO:0001819	synonymous_variant	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30897748C>G	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.168C>G	20.37:g.30897748C>G							p.T56T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	335	+			56			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	c.168C>G	CCDS13200.1																																																																																				0.498	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		5	61	0	0	0	1	0	5	61				
CD200R1	131450	broad.mit.edu	37	3	112648324	112648324	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:112648324G>T	ENST00000471858.1	-	3	396	c.164C>A	c.(163-165)aCa>aAa	p.T55K	CD200R1_ENST00000308611.3_Missense_Mutation_p.T78K|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78K|CD200R1_ENST00000490004.1_Missense_Mutation_p.T55K|CD200R1_ENST00000295863.4_Missense_Mutation_p.T33K	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	55	Ig-like V-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CACAGCATTTGTAGCCATCTT	0.383																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(163-165)aCa>aAa		CD200 receptor 1							83.0	80.0	81.0					3																	112648324		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112648324G>T	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.164C>A	3.37:g.112648324G>T	ENSP00000418928:p.Thr55Lys					CD200R1_ENST00000295863.4_Missense_Mutation_p.T33K|CD200R1_ENST00000490004.1_Missense_Mutation_p.T55K|CD200R1_ENST00000308611.3_Missense_Mutation_p.T78K|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78K	p.T55K	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			3	396	-			55			Ig-like V-type.		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.164C>A	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	G	7.000	0.554600	0.13436	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.5	-1.05	0.10036	Immunoglobulin subtype (1);	0.685163	0.14450	N	0.318866	T	0.22044	0.0531	L	0.37750	1.13	0.09310	N	1	B;B;B;B;B	0.17268	0.021;0.001;0.001;0.001;0.001	B;B;B;B;B	0.18871	0.023;0.004;0.004;0.002;0.004	T	0.21552	-1.0242	10	0.23891	T	0.37	.	12.0879	0.53708	0.0:0.0983:0.4435:0.4582	.	33;55;78;55;78	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	K	55;78;33;78;55	ENSP00000418928:T55K;ENSP00000311035:T78K;ENSP00000295863:T33K;ENSP00000405733:T78K;ENSP00000418801:T55K	ENSP00000295863:T33K	T	-	2	0	CD200R1	114131014	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.057000	0.14279	-0.715000	0.04968	-2.906000	0.00092	ACA		0.383	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		4	93	1	0	0.000602214	1	0.000658672	4	93				
SEMA6D	80031	broad.mit.edu	37	15	48063581	48063581	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:48063581C>G	ENST00000316364.5	+	19	3260	c.2821C>G	c.(2821-2823)Cca>Gca	p.P941A	SEMA6D_ENST00000536845.2_Missense_Mutation_p.P941A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P898A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P885A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P879A|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P866A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P922A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	941					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAGAAATAGCCCAACCAAGCG	0.517																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(2821-2823)Cca>Gca		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							115.0	116.0	116.0					15																	48063581		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063581C>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2821C>G	15.37:g.48063581C>G	ENSP00000324857:p.Pro941Ala					SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P922A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P879A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P866A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P885A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P898A|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P941A	p.P941A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3260	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	941					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2821C>G	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257503	0.59321	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.17854	2.25;2.31;2.31;2.3;2.25;2.25;2.25;2.25	5.8	5.8	0.92144	.	0.054091	0.85682	D	0.000000	T	0.34774	0.0909	L	0.44542	1.39	0.80722	D	1	D;D;P;D	0.67145	0.977;0.996;0.935;0.977	P;D;P;P	0.63192	0.798;0.912;0.759;0.798	T	0.00569	-1.1666	10	0.48119	T	0.1	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	866;885;941;879	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	A	879;941;941;922;898;885;879;866	ENSP00000442040:P879A;ENSP00000446152:P941A;ENSP00000324857:P941A;ENSP00000374084:P922A;ENSP00000374083:P898A;ENSP00000346786:P885A;ENSP00000350770:P879A;ENSP00000374079:P866A	ENSP00000324857:P941A	P	+	1	0	SEMA6D	45850873	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	CCA		0.517	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		5	161	0	0	0	1	0	5	161				
TMEM86B	255043	broad.mit.edu	37	19	55739730	55739730	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:55739730C>A	ENST00000327042.4	-	2	649	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	AC010327.2_ENST00000598855.1_3'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	43					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GACAGCTGGTCCTCGGGAATC	0.637																																						ENST00000327042.4																			0				skin(2)	2						c.(127-129)Gac>Tac		transmembrane protein 86B							59.0	52.0	55.0					19																	55739730		2201	4299	6500	SO:0001583	missense	255043				ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity	g.chr19:55739730C>A	BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.127G>T	19.37:g.55739730C>A	ENSP00000321038:p.Asp43Tyr					AC010327.2_ENST00000598855.1_3'UTR	p.D43Y	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	2	649	-			43						Missense_Mutation	SNP	ENST00000327042.4	37	c.127G>T	CCDS12920.1	.	.	.	.	.	.	.	.	.	.	.	15.59	2.878864	0.51801	.	.	ENSG00000180089	ENST00000327042	T	0.23348	1.91	5.28	0.683	0.17998	.	0.540461	0.19293	N	0.117834	T	0.30479	0.0766	L	0.38175	1.15	0.19575	N	0.999966	D	0.76494	0.999	P	0.61328	0.887	T	0.08186	-1.0734	10	0.72032	D	0.01	.	6.0209	0.19628	0.0:0.5819:0.1299:0.2881	.	43	Q8N661	TM86B_HUMAN	Y	43	ENSP00000321038:D43Y	ENSP00000321038:D43Y	D	-	1	0	TMEM86B	60431542	0.000000	0.05858	0.142000	0.22268	0.797000	0.45037	0.091000	0.15046	0.056000	0.16144	0.655000	0.94253	GAC		0.637	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452659.1	NM_173804		4	42	1	0	1	1	1	4	42				
ALDH5A1	7915	broad.mit.edu	37	6	24503566	24503566	+	Missense_Mutation	SNP	C	C	T	rs551902853		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:24503566C>T	ENST00000357578.3	+	3	659	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R84C|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R144C|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R172C	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	172					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TGAGGAAGCCCGCCGTGTTTA	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18932	0.0		0.0	False		,,,				2504	0.0					ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(514-516)Cgc>Tgc		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						44.0	45.0	45.0					6																	24503566		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24503566C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.514C>T	6.37:g.24503566C>T	ENSP00000350191:p.Arg172Cys					ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R144C|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R84C|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R172C	p.R172C	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			3	659	+			172					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.514C>T	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196799	0.79015	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.93713	0.7026	10	0.87932	D	0	.	18.9912	0.92793	0.0:1.0:0.0:0.0	.	172;172	P51649;G5E949	SSDH_HUMAN;.	C	172;84;144;172	ENSP00000350191:R172C;ENSP00000438193:R84C;ENSP00000417687:R144C;ENSP00000314649:R172C	ENSP00000314649:R172C	R	+	1	0	ALDH5A1	24611545	1.000000	0.71417	0.999000	0.59377	0.674000	0.39518	4.386000	0.59620	2.708000	0.92522	0.650000	0.86243	CGC		0.537	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			7	47	0	0	0	1	0	7	47				
RHNO1	83695	broad.mit.edu	37	12	2997554	2997554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:2997554C>T	ENST00000489288.2	+	3	798	c.646C>T	c.(646-648)Cga>Tga	p.R216*	TULP3_ENST00000397132.2_5'Flank|TULP3_ENST00000448120.2_5'Flank|RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Nonsense_Mutation_p.R202*	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1	Q9BSD3	RHNO1_HUMAN	RAD9-HUS1-RAD1 interacting nuclear orphan 1	216					cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|positive regulation of G0 to G1 transition (GO:0070318)|recombinational repair (GO:0000725)	chromosome (GO:0005694)|nucleus (GO:0005634)											ATGGAGGAGACGACAGCACCT	0.498																																						ENST00000489288.2																			0											c.(646-648)Cga>Tga		RAD9-HUS1-RAD1 interacting nuclear orphan 1							64.0	61.0	62.0					12																	2997554		2203	4300	6503	SO:0001587	stop_gained	83695							g.chr12:2997554C>T	AK021945	CCDS8518.1, CCDS58199.1	12p13.33	2012-08-23	2012-08-23	2012-08-23	ENSG00000171792	ENSG00000171792			28206	protein-coding gene	gene with protein product	"""Rad9, Rad1, Hus1 interacting nuclear orphan"""	614085	"""chromosome 12 open reading frame 32"""	C12orf32		20811708, 21659603	Standard	NM_001252499		Approved	HKMT1188, MGC13204, RHINO	uc031qfq.1	Q9BSD3	OTTHUMG00000158557	ENST00000489288.2:c.646C>T	12.37:g.2997554C>T	ENSP00000438590:p.Arg216*					RHNO1_ENST00000461997.2_Nonsense_Mutation_p.R202*|RHNO1_ENST00000464682.2_3'UTR	p.R216*	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1					3	798	+								B7Z989	Nonsense_Mutation	SNP	ENST00000489288.2	37	c.646C>T	CCDS8518.1	.	.	.	.	.	.	.	.	.	.	C	35	5.533914	0.96460	.	.	ENSG00000171792	ENST00000461997;ENST00000489288	.	.	.	5.21	2.11	0.27256	.	0.198162	0.33127	N	0.005249	.	.	.	.	.	.	0.31619	N	0.650467	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4091	6.8919	0.24234	0.3147:0.5995:0.0:0.0857	.	.	.	.	X	202;216	.	ENSP00000438828:R202X	R	+	1	2	C12orf32	2867815	0.009000	0.17119	0.401000	0.26359	0.928000	0.56348	0.012000	0.13287	0.641000	0.30601	0.655000	0.94253	CGA		0.498	RHNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351286.2	NM_031465		11	53	0	0	0	1	0	11	53				
ADAMTS20	80070	broad.mit.edu	37	12	43793008	43793008	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:43793008T>A	ENST00000389420.3	-	29	4312	c.4313A>T	c.(4312-4314)aAg>aTg	p.K1438M		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1438	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCACGGTACTTTCTACCTTT	0.348																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4312-4314)aAg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 20							91.0	80.0	84.0					12																	43793008		2201	4299	6500	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43793008T>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4313A>T	12.37:g.43793008T>A	ENSP00000374071:p.Lys1438Met						p.K1438M	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	29	4312	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1438			TSP type-1 11.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4313A>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393259	0.62066	.	.	ENSG00000173157	ENST00000389420	T	0.55588	0.51	4.96	4.96	0.65561	.	0.000000	0.56097	D	0.000038	T	0.68906	0.3052	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70230	-0.4929	10	0.49607	T	0.09	.	12.843	0.57813	0.0:0.0:0.0:1.0	.	1438	P59510	ATS20_HUMAN	M	1438	ENSP00000374071:K1438M	ENSP00000374071:K1438M	K	-	2	0	ADAMTS20	42079275	1.000000	0.71417	0.998000	0.56505	0.725000	0.41563	4.940000	0.63533	2.165000	0.68154	0.528000	0.53228	AAG		0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	1	0	0	0	1	0	3	1				
DEPDC1	55635	broad.mit.edu	37	1	68944925	68944925	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:68944925C>A	ENST00000456315.2	-	10	2128	c.2014G>T	c.(2014-2016)Gtt>Ttt	p.V672F	DEPDC1_ENST00000370966.5_Missense_Mutation_p.V388F|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	672					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAAAGAAACTAATCTTCCA	0.353																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(2014-2016)Gtt>Ttt		DEP domain containing 1							89.0	83.0	85.0					1																	68944925		2203	4300	6503	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68944925C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.2014G>T	1.37:g.68944925C>A	ENSP00000412292:p.Val672Phe					RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.V388F	p.V672F	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	10	2128	-			672					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.2014G>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519360	0.64634	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.46063	0.88;0.88	5.67	4.76	0.60689	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.253870	0.38778	N	0.001577	T	0.48750	0.1517	M	0.67953	2.075	0.31459	N	0.669823	D;D	0.76494	0.999;0.996	D;D	0.78314	0.991;0.948	T	0.53585	-0.8418	10	0.52906	T	0.07	0.0242	11.7425	0.51801	0.0:0.8088:0.1233:0.0679	.	672;388	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	F	672;388	ENSP00000412292:V672F;ENSP00000360005:V388F	ENSP00000360005:V388F	V	-	1	0	DEPDC1	68717513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.059000	0.41384	1.395000	0.46643	0.585000	0.79938	GTT		0.353	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		6	47	1	0	3.59834e-05	1	4.08902e-05	6	47				
C10orf76	79591	broad.mit.edu	37	10	103649193	103649193	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:103649193G>A	ENST00000370033.4	-	24	1955	c.1836C>T	c.(1834-1836)caC>caT	p.H612H	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	612						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GTTGGGATATGTGATTCACAG	0.473																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(1834-1836)caC>caT		chromosome 10 open reading frame 76							319.0	320.0	320.0					10																	103649193		1978	4162	6140	SO:0001819	synonymous_variant	79591					integral to membrane		g.chr10:103649193G>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1836C>T	10.37:g.103649193G>A						C10orf76_ENST00000495001.1_5'UTR	p.H612H	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	24	1955	-		Colorectal(252;0.123)	612					Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	37	c.1836C>T	CCDS41563.1																																																																																				0.473	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		5	325	0	0	0	1	0	5	325				
ITLN1	55600	broad.mit.edu	37	1	160850469	160850469	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:160850469C>T	ENST00000326245.3	-	6	709	c.594G>A	c.(592-594)aaG>aaA	p.K198K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	198	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGTCCAACACTTTCCTTCTC	0.458																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(592-594)aaG>aaA		intelectin 1 (galactofuranose binding)							157.0	154.0	155.0					1																	160850469		2203	4300	6503	SO:0001819	synonymous_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160850469C>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.594G>A	1.37:g.160850469C>T						ITLN1_ENST00000487531.1_5'UTR	p.K198K	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	709	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		198			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	c.594G>A	CCDS1211.1																																																																																				0.458	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		8	142	0	0	0	1	0	8	142				
TOP3A	7156	broad.mit.edu	37	17	18205596	18205596	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:18205596T>C	ENST00000321105.5	-	7	1010	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	TOP3A_ENST00000540524.1_5'Flank|TOP3A_ENST00000542570.1_Missense_Mutation_p.I171V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	266					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGTGGAAGATTTCTGGTACA	0.527																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(796-798)Atc>Gtc		topoisomerase (DNA) III alpha							41.0	45.0	43.0					17																	18205596		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18205596T>C	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.796A>G	17.37:g.18205596T>C	ENSP00000321636:p.Ile266Val					TOP3A_ENST00000542570.1_Missense_Mutation_p.I171V	p.I266V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			7	1010	-			266					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.796A>G	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.576|6.576	0.474657|0.474657	0.12521|0.12521	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000321105;ENST00000542570|ENST00000412083	T;T|.	0.21543|.	2.0;2.0|.	6.07|6.07	-2.17|-2.17	0.07059|0.07059	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);|.	0.710089|.	0.14661|.	N|.	0.305982|.	T|T	0.47021|0.47021	0.1423|0.1423	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999995|0.999995	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.27905|0.27905	-1.0060|-1.0060	10|5	0.27082|.	T|.	0.32|.	-1.8031|-1.8031	9.2393|9.2393	0.37486|0.37486	0.0:0.4798:0.1128:0.4074|0.0:0.4798:0.1128:0.4074	.|.	171;266|.	B4DK80;Q13472|.	.;TOP3A_HUMAN|.	V|S	266;171|245	ENSP00000321636:I266V;ENSP00000442336:I171V|.	ENSP00000321636:I266V|.	I|N	-|-	1|2	0|0	TOP3A|TOP3A	18146321|18146321	0.998000|0.998000	0.40836|0.40836	0.114000|0.114000	0.21550|0.21550	0.316000|0.316000	0.28119|0.28119	0.538000|0.538000	0.23160|0.23160	-0.710000|-0.710000	0.05001|0.05001	-0.256000|-0.256000	0.11100|0.11100	ATC|AAT		0.527	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			10	41	0	0	0	1	0	10	41				
THAP4	51078	broad.mit.edu	37	2	242573471	242573471	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:242573471C>T	ENST00000407315.1	-	2	532	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	34							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TTGGATTAGACGTTTTGAGTC	0.368																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(100-102)cGt>cAt		THAP domain containing 4							74.0	85.0	81.0					2																	242573471		2202	4295	6497	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242573471C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.101G>A	2.37:g.242573471C>T	ENSP00000385006:p.Arg34His						p.R34H	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	532	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	34					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.101G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416868	0.83449	.	.	ENSG00000176946	ENST00000407315	D	0.96651	-4.08	4.93	4.93	0.64822	Zinc finger, C2CH-type (4);	0.685435	0.14023	N	0.346668	D	0.98346	0.9451	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98951	1.0794	10	0.87932	D	0	-16.3601	16.7001	0.85346	0.0:1.0:0.0:0.0	.	34	Q8WY91	THAP4_HUMAN	H	34	ENSP00000385006:R34H	ENSP00000385006:R34H	R	-	2	0	THAP4	242222144	0.996000	0.38824	0.958000	0.39756	0.983000	0.72400	4.476000	0.60216	2.431000	0.82371	0.655000	0.94253	CGT		0.368	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		7	93	0	0	0	1	0	7	93				
ZNF263	10127	broad.mit.edu	37	16	3334135	3334135	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:3334135C>A	ENST00000219069.5	+	1	1193	c.317C>A	c.(316-318)cCg>cAg	p.P106Q	ZNF263_ENST00000573578.1_Missense_Mutation_p.P106Q|ZNF263_ENST00000574253.1_Missense_Mutation_p.P106Q|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|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)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GAGCTGCATCCGGAGAGCGGC	0.562																																						ENST00000219069.5																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(316-318)cCg>cAg		zinc finger protein 263							75.0	79.0	78.0					16																	3334135		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3334135C>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.317C>A	16.37:g.3334135C>A	ENSP00000219069:p.Pro106Gln					ZNF263_ENST00000573578.1_Missense_Mutation_p.P106Q|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Missense_Mutation_p.P106Q	p.P106Q	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN			1	1193	+			106			SCAN box.		B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.317C>A	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146348	0.57044	.	.	ENSG00000006194	ENST00000219069	T	0.08634	3.07	4.96	4.96	0.65561	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.53938	D	0.000058	T	0.33702	0.0872	H	0.94264	3.515	0.37070	D	0.898463	P;P	0.47604	0.888;0.898	P;P	0.55545	0.778;0.541	T	0.52041	-0.8628	10	0.87932	D	0	.	13.8993	0.63792	0.0:1.0:0.0:0.0	.	106;106	O14978;D3DUC1	ZN263_HUMAN;.	Q	106	ENSP00000219069:P106Q	ENSP00000219069:P106Q	P	+	2	0	ZNF263	3274136	0.952000	0.32445	0.976000	0.42696	0.999000	0.98932	3.083000	0.50136	2.733000	0.93635	0.655000	0.94253	CCG		0.562	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			6	95	1	0	3.59834e-05	1	4.08902e-05	6	95				
ACP5	54	broad.mit.edu	37	19	11687381	11687381	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:11687381G>A	ENST00000592828.1	-	6	814	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	ACP5_ENST00000218758.5_Missense_Mutation_p.R138C|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.R138C|ACP5_ENST00000412435.2_Missense_Mutation_p.R138C	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	138					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|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 nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AAGTGCAGGCGGTAGAAAGGG	0.562																																						ENST00000592828.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						c.(412-414)Cgc>Tgc		acid phosphatase 5, tartrate resistant							78.0	87.0	84.0					19																	11687381		2203	4300	6503	SO:0001583	missense	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11687381G>A	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.412C>T	19.37:g.11687381G>A	ENSP00000468767:p.Arg138Cys					ACP5_ENST00000218758.5_Missense_Mutation_p.R138C|ACP5_ENST00000433365.2_Missense_Mutation_p.R138C|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.R138C	p.R138C	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN			6	814	-			138					A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	c.412C>T	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	g	13.95	2.389126	0.42410	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.70516	-0.49;-0.49;-0.49	5.13	4.1	0.47936	Metallophosphoesterase domain (1);	0.161188	0.56097	D	0.000038	T	0.73923	0.3649	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	P	0.57720	0.826	T	0.73895	-0.3838	10	0.56958	D	0.05	-0.1926	4.323	0.11027	0.0864:0.1537:0.6014:0.1585	.	138	P13686	PPA5_HUMAN	C	138	ENSP00000218758:R138C;ENSP00000392374:R138C;ENSP00000413456:R138C	ENSP00000218758:R138C	R	-	1	0	ACP5	11548381	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	3.774000	0.55341	1.156000	0.42514	-0.136000	0.14681	CGC		0.562	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			19	41	0	0	0	1	0	19	41				
MYH13	8735	broad.mit.edu	37	17	10248872	10248872	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:10248872A>T	ENST00000418404.3	-	13	1488	c.1325T>A	c.(1324-1326)gTc>gAc	p.V442D	MYH13_ENST00000252172.4_Missense_Mutation_p.V442D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	442	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GATGCGGGTGACCATCCACAG	0.522																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1324-1326)gTc>gAc		myosin, heavy chain 13, skeletal muscle							175.0	164.0	168.0					17																	10248872		2203	4297	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248872A>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1325T>A	17.37:g.10248872A>T	ENSP00000404570:p.Val442Asp					MYH13_ENST00000570743.1_Missense_Mutation_p.V442D|MYH13_ENST00000252172.4_Missense_Mutation_p.V442D	p.V442D			Q9UKX3	MYH13_HUMAN			13	1488	-			442			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1325T>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426405	0.83667	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.92149	-2.98	4.33	4.33	0.51752	Myosin head, motor domain (2);	.	.	.	.	D	0.98191	0.9402	H	0.99969	5.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98669	1.0687	9	0.87932	D	0	.	13.9543	0.64137	1.0:0.0:0.0:0.0	.	442	Q9UKX3	MYH13_HUMAN	D	442;117	ENSP00000252172:V442D	ENSP00000252172:V442D	V	-	2	0	MYH13	10189597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.945000	0.92985	1.946000	0.56461	0.459000	0.35465	GTC		0.522	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		10	135	0	0	0	1	0	10	135				
NAGK	55577	broad.mit.edu	37	2	71300700	71300700	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:71300700A>T	ENST00000244204.6	+	6	617	c.555A>T	c.(553-555)aaA>aaT	p.K185N	NAGK_ENST00000443938.2_Missense_Mutation_p.K185N|NAGK_ENST00000418807.3_Missense_Mutation_p.K134N|NAGK_ENST00000443872.2_Missense_Mutation_p.K37N|NAGK_ENST00000455662.2_Missense_Mutation_p.K231N			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	185					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCTACGTCAAACAGGCCATGT	0.522																																						ENST00000418807.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18						c.(400-402)aaA>aaT		N-acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						240.0	222.0	228.0					2																	71300700		2203	4300	6503	SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71300700A>T	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.555A>T	2.37:g.71300700A>T	ENSP00000244204:p.Lys185Asn					NAGK_ENST00000455662.2_Missense_Mutation_p.K231N|NAGK_ENST00000244204.5_Missense_Mutation_p.K185N	p.K134N			Q9UJ70	NAGK_HUMAN			5	566	+			185					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.402A>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	20.7|20.7|20.7	4.039176|4.039176|4.039176	0.75617|0.75617|0.75617	.|.|.	.|.|.	ENSG00000124357|ENSG00000124357|ENSG00000124357	ENST00000244204;ENST00000455662;ENST00000531934;ENST00000418807;ENST00000529236|ENST00000443938|ENST00000524537	T;T;T|.|.	0.48201|.|.	1.38;1.34;0.82|.|.	5.99|5.99|5.99	-4.01|-4.01|-4.01	0.04045|0.04045|0.04045	ATPase, BadF/BadG/BcrA/BcrD type (1);|.|.	0.151937|.|.	0.56097|.|.	D|.|.	0.000024|.|.	T|T|T	0.69160|0.69160|0.69160	0.3080|0.3080|0.3080	M|M|M	0.73217|0.73217|0.73217	2.22|2.22|2.22	0.46185|0.46185|0.46185	D|D|D	0.998917|0.998917|0.998917	D|.|.	0.69078|.|.	0.997|.|.	P|.|.	0.58210|.|.	0.835|.|.	T|T|T	0.71374|0.71374|0.71374	-0.4612|-0.4612|-0.4612	10|5|5	0.24483|.|.	T|.|.	0.36|.|.	-24.7902|-24.7902|-24.7902	15.716|15.716|15.716	0.77670|0.77670|0.77670	0.2684:0.0:0.7316:0.0|0.2684:0.0:0.7316:0.0|0.2684:0.0:0.7316:0.0	.|.|.	185|.|.	Q9UJ70|.|.	NAGK_HUMAN|.|.	N|I|S	185;231;37;134;79|207|12	ENSP00000244204:K185N;ENSP00000389087:K231N;ENSP00000396070:K134N|.|.	ENSP00000244204:K185N|.|.	K|N|T	+|+|+	3|2|1	2|0|0	NAGK|NAGK|NAGK	71154208|71154208|71154208	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.969000|0.969000|0.969000	0.41365|0.41365|0.41365	0.826000|0.826000|0.826000	0.46750|0.46750|0.46750	0.341000|0.341000|0.341000	0.19909|0.19909|0.19909	-0.712000|-0.712000|-0.712000	0.04988|0.04988|0.04988	-0.408000|-0.408000|-0.408000	0.06270|0.06270|0.06270	AAA|AAC|ACA		0.522	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			27	219	0	0	0	1	0	27	219				
RYR3	6263	broad.mit.edu	37	15	33988496	33988496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:33988496C>T	ENST00000389232.4	+	39	6008	c.5938C>T	c.(5938-5940)Cga>Tga	p.R1980*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R1980*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1980	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1980*(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAGCTGGTCCGAATGATGTT	0.562																																						ENST00000389232.4																			1	Substitution - Nonsense(1)	p.R1980*(1)	upper_aerodigestive_tract(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5938-5940)Cga>Tga		ryanodine receptor 3							69.0	71.0	70.0					15																	33988496		2096	4248	6344	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33988496C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5938C>T	15.37:g.33988496C>T	ENSP00000373884:p.Arg1980*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.R1980*	p.R1980*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	39	6008	+		all_lung(180;7.18e-09)	1980			4 X approximate repeats.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.5938C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	47	13.035475	0.99715	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	4.47	3.52	0.40303	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7169	0.62702	0.1604:0.8396:0.0:0.0	.	.	.	.	X	1980	.	ENSP00000354735:R1980X	R	+	1	2	RYR3	31775788	0.467000	0.25831	0.993000	0.49108	0.838000	0.47535	0.993000	0.29680	1.174000	0.42811	0.650000	0.86243	CGA		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			13	64	0	0	0	1	0	13	64				
ARMC2	84071	broad.mit.edu	37	6	109274248	109274248	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:109274248C>T	ENST00000392644.4	+	13	1777	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R372C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	537										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TTTAGTCGTCCGTGTTGTTTT	0.398																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(1609-1611)Cgt>Tgt		armadillo repeat containing 2							60.0	52.0	55.0					6																	109274248		2202	4300	6502	SO:0001583	missense	84071						binding	g.chr6:109274248C>T	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1609C>T	6.37:g.109274248C>T	ENSP00000376417:p.Arg537Cys					ARMC2_ENST00000368972.3_Missense_Mutation_p.R372C	p.R537C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	13	1777	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	537					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.1609C>T	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981120	0.93044	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.48836	0.8;0.8	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.72557	-0.4257	10	0.87932	D	0	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	537	Q8NEN0	ARMC2_HUMAN	C	372;537	ENSP00000357968:R372C;ENSP00000376417:R537C	ENSP00000357968:R372C	R	+	1	0	ARMC2	109380941	1.000000	0.71417	0.328000	0.25416	0.926000	0.56050	6.969000	0.76092	2.756000	0.94617	0.655000	0.94253	CGT		0.398	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		4	13	0	0	0	1	0	4	13				
TFDP3	51270	broad.mit.edu	37	X	132351872	132351872	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:132351872G>A	ENST00000310125.4	-	1	504	c.416C>T	c.(415-417)gCc>gTc	p.A139V		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	139					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)					TCTGAACTTGGCGACCAGCTC	0.552																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(415-417)gCc>gTc		transcription factor Dp family, member 3							87.0	80.0	82.0					X																	132351872		2202	4300	6502	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351872G>A	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.416C>T	X.37:g.132351872G>A	ENSP00000385461:p.Ala139Val						p.A139V	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	504	-	Acute lymphoblastic leukemia(192;0.000127)		139					Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.416C>T	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	g	11.58	1.682441	0.29872	.	.	ENSG00000183434	ENST00000310125	T	0.25912	1.77	0.226	0.226	0.15353	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.27349	0.0671	M	0.61703	1.905	0.80722	D	1	B	0.24651	0.108	B	0.35114	0.196	T	0.15636	-1.0430	9	0.72032	D	0.01	.	6.186	0.20498	4.0E-4:0.0:0.9996:0.0	.	139	Q5H9I0	TFDP3_HUMAN	V	139	ENSP00000385461:A139V	ENSP00000385461:A139V	A	-	2	0	TFDP3	132179538	1.000000	0.71417	0.050000	0.19076	0.051000	0.14879	6.475000	0.73582	0.283000	0.22279	0.287000	0.19450	GCC		0.552	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		4	47	0	0	0	1	0	4	47				
CTSZ	1522	broad.mit.edu	37	20	57576623	57576623	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:57576623G>A	ENST00000217131.5	-	3	502	c.384C>T	c.(382-384)aaC>aaT	p.N128N		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	128					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			AGGAGCCAGCGTTACCGCAGT	0.602																																						ENST00000217131.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10						c.(382-384)aaC>aaT		cathepsin Z							223.0	159.0	181.0					20																	57576623		2203	4300	6503	SO:0001819	synonymous_variant	1522				proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	g.chr20:57576623G>A	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"""Cathepsins"""	2547	protein-coding gene	gene with protein product	"""cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B"""	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.384C>T	20.37:g.57576623G>A							p.N128N	NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	Colorectal(105;0.109)		3	502	-	all_lung(29;0.00711)		128					B2RC40|O75331|Q9UQV5|Q9UQV6	Silent	SNP	ENST00000217131.5	37	c.384C>T	CCDS13474.1																																																																																				0.602	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336		4	73	0	0	0	1	0	4	73				
TENM4	26011	broad.mit.edu	37	11	78443391	78443391	+	Silent	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:78443391T>C	ENST00000278550.7	-	21	3570	c.3108A>G	c.(3106-3108)gcA>gcG	p.A1036A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1036					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGCCTTTCTCTGCACAGGAGC	0.527																																						ENST00000278550.7																			0											c.(3106-3108)gcA>gcG		teneurin transmembrane protein 4							62.0	65.0	64.0					11																	78443391		1922	4121	6043	SO:0001819	synonymous_variant	26011							g.chr11:78443391T>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3108A>G	11.37:g.78443391T>C							p.A1036A	NM_001098816.2	NP_001092286.2					21	3570	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.3108A>G	CCDS44688.1																																																																																				0.527	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			22	53	0	0	0	1	0	22	53				
OTOGL	283310	broad.mit.edu	37	12	80749588	80749588	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:80749588T>C	ENST00000547103.1	+	46	5609	c.5603T>C	c.(5602-5604)cTa>cCa	p.L1868P	OTOGL_ENST00000458043.2_Missense_Mutation_p.L1880P|OTOGL_ENST00000546620.1_5'Flank			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1868					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAATGCACTCTATACAAATGT	0.448																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5638-5640)cTa>cCa		otogelin-like							129.0	122.0	124.0					12																	80749588		1906	4119	6025	SO:0001583	missense	283310							g.chr12:80749588T>C	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5603T>C	12.37:g.80749588T>C	ENSP00000447211:p.Leu1868Pro					OTOGL_ENST00000547103.1_Missense_Mutation_p.L1868P	p.L1880P	NM_173591.3	NP_775862.3					46	5645	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.5639T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.25|16.25	3.070274|3.070274	0.55539|0.55539	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043|ENST00000298820	T;T|.	0.16073|.	2.37;2.37|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|.	.|.	.|.	.|.	T|T	0.72479|0.72479	0.3465|0.3465	M|M	0.68317|0.68317	2.08|2.08	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.72527|0.72527	-0.4266|-0.4266	7|5	0.25106|.	T|.	0.35|.	.|.	15.3086|15.3086	0.74014|0.74014	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	P|H	1868;1880|323	ENSP00000447211:L1868P;ENSP00000400895:L1880P|.	ENSP00000400895:L1880P|.	L|Y	+|+	2|1	0|0	OTOGL|OTOGL	79273719|79273719	1.000000|1.000000	0.71417|0.71417	0.686000|0.686000	0.30086|0.30086	0.313000|0.313000	0.28021|0.28021	5.697000|5.697000	0.68295|0.68295	2.029000|2.029000	0.59856|0.59856	0.482000|0.482000	0.46254|0.46254	CTA|TAT		0.448	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		10	85	0	0	0	1	0	10	85				
CREB3L3	84699	broad.mit.edu	37	19	4170156	4170156	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:4170156C>G	ENST00000078445.2	+	7	988	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.Q279E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.Q280E|CREB3L3_ENST00000602147.1_Nonsense_Mutation_p.S245*	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	281	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCACTGCTCAGAATCAGGA	0.562																																						ENST00000602147.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(733-735)tCa>tGa		cAMP responsive element binding protein 3-like 3							124.0	103.0	110.0					19																	4170156		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4170156C>G		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.841C>G	19.37:g.4170156C>G	ENSP00000078445:p.Gln281Glu					CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.Q279E|CREB3L3_ENST00000078445.2_Missense_Mutation_p.Q281E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.Q280E	p.S245*			Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	6	814	+			0					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Nonsense_Mutation	SNP	ENST00000078445.2	37	c.734C>G	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370987	0.42003	.	.	ENSG00000060566	ENST00000078445	T	0.39787	1.06	5.37	4.29	0.51040	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	.	.	.	.	T	0.24392	0.0591	N	0.16790	0.44	0.80722	D	1	B;B;B	0.31640	0.122;0.285;0.333	B;B;B	0.32533	0.057;0.091;0.147	T	0.05402	-1.0887	9	0.02654	T	1	.	13.8855	0.63706	0.0:0.8468:0.1532:0.0	.	279;280;281	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	E	281	ENSP00000078445:Q281E	ENSP00000078445:Q281E	Q	+	1	0	CREB3L3	4121156	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.178000	0.58284	2.516000	0.84829	0.650000	0.86243	CAG		0.562	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		6	107	0	0	0	1	0	6	107				
APOB	338	broad.mit.edu	37	2	21258471	21258471	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:21258471A>G	ENST00000233242.1	-	7	930	c.803T>C	c.(802-804)cTg>cCg	p.L268P	APOB_ENST00000399256.4_Missense_Mutation_p.L268P	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	268	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGAAAGGCAGGAAGAGGTG	0.493																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(802-804)cTg>cCg		apolipoprotein B	Atorvastatin(DB01076)						164.0	131.0	142.0					2																	21258471		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21258471A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.803T>C	2.37:g.21258471A>G	ENSP00000233242:p.Leu268Pro					APOB_ENST00000399256.4_Missense_Mutation_p.L268P	p.L268P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			7	930	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		268			Heparin-binding.|Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.803T>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.888850	0.72524	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.39787	1.06;1.06	5.69	4.5	0.54988	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.153165	0.30374	N	0.009776	T	0.64249	0.2581	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.68191	-0.5474	10	0.72032	D	0.01	.	13.0729	0.59072	0.8658:0.1342:0.0:0.0	.	268	P04114	APOB_HUMAN	P	268	ENSP00000233242:L268P;ENSP00000382200:L268P	ENSP00000233242:L268P	L	-	2	0	APOB	21111976	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.933000	0.75874	1.062000	0.40625	0.529000	0.55759	CTG		0.493	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	60	0	0	0	1	0	4	60				
LDLR	3949	broad.mit.edu	37	19	11233932	11233932	+	Silent	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:11233932A>T	ENST00000558518.1	+	15	2410	c.2223A>T	c.(2221-2223)acA>acT	p.T741T	LDLR_ENST00000535915.1_Silent_p.T700T|LDLR_ENST00000557933.1_Silent_p.T741T|LDLR_ENST00000455727.2_Silent_p.T573T|LDLR_ENST00000545707.1_Silent_p.T563T|LDLR_ENST00000558013.1_Silent_p.T741T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	741	Clustered O-linked oligosaccharides.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CACAGCACACAACCACCCGAC	0.582																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2221-2223)acA>acT		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						173.0	129.0	144.0					19																	11233932		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11233932A>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2223A>T	19.37:g.11233932A>T						LDLR_ENST00000545707.1_Silent_p.T563T|LDLR_ENST00000535915.1_Silent_p.T700T|LDLR_ENST00000558013.1_Silent_p.T741T|LDLR_ENST00000455727.2_Silent_p.T573T|LDLR_ENST00000557933.1_Silent_p.T741T	p.T741T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	15	2410	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	741			Clustered O-linked oligosaccharides.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.2223A>T	CCDS12254.1																																																																																				0.582	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			9	83	0	0	0	1	0	9	83				
STK11IP	114790	broad.mit.edu	37	2	220473351	220473351	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:220473351G>T	ENST00000456909.1	+	15	1740	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	STK11IP_ENST00000295641.10_Missense_Mutation_p.E561D			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	561	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGCCTGAGGGCGTACGGG	0.602																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1648-1650)gaG>gaT		serine/threonine kinase 11 interacting protein							51.0	56.0	54.0					2																	220473351		1990	4146	6136	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473351G>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1650G>T	2.37:g.220473351G>T	ENSP00000389383:p.Glu550Asp					STK11IP_ENST00000295641.10_Missense_Mutation_p.E561D	p.E550D			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1740	+		Renal(207;0.0183)	561			Glu-rich.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.1650G>T		.	.	.	.	.	.	.	.	.	.	G	2.012	-0.426951	0.04701	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05258	3.47;3.47	4.5	1.35	0.21983	.	0.842078	0.10336	N	0.686940	T	0.05364	0.0142	L	0.46157	1.445	0.09310	N	1	B;B;B	0.24823	0.001;0.112;0.001	B;B;B	0.23852	0.002;0.049;0.003	T	0.45731	-0.9241	10	0.17369	T	0.5	-0.6098	2.6791	0.05088	0.1024:0.3177:0.3951:0.1848	.	529;561;561	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	D	550;529;561	ENSP00000389383:E550D;ENSP00000295641:E561D	ENSP00000295641:E561D	E	+	3	2	STK11IP	220181595	0.082000	0.21442	0.004000	0.12327	0.136000	0.21042	0.236000	0.17967	0.499000	0.27970	0.561000	0.74099	GAG		0.602	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		3	54	1	0	0.004672	1	0.0049253	3	54				
TRPM6	140803	broad.mit.edu	37	9	77390917	77390917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:77390917G>T	ENST00000360774.1	-	24	3522	c.3285C>A	c.(3283-3285)taC>taA	p.Y1095*	TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1090*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1095					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						GCTTCTCGTGGTAGGTCATGA	0.522																																						ENST00000451710.3																			0				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						c.(3283-3285)taC>taA		transient receptor potential cation channel, subfamily M, member 6							115.0	124.0	121.0					9																	77390917		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.chr9:77390917G>T	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.3285C>A	9.37:g.77390917G>T	ENSP00000354006:p.Tyr1095*					TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Y1095*	p.Y1095*			Q9BX84	TRPM6_HUMAN			24	3522	-			1095					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.3285C>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	39	7.901617	0.98551	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.76	1.28	0.21552	.	0.167059	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9288	0.52835	0.3788:0.0:0.6212:0.0	.	.	.	.	X	1095;1095;1090;1090;1095;758;758	.	ENSP00000309693:Y758X	Y	-	3	2	TRPM6	76580737	1.000000	0.71417	0.743000	0.31040	0.555000	0.35460	1.425000	0.34859	0.350000	0.24002	0.591000	0.81541	TAC		0.522	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	113	1	0	0.00116845	1	0.00127005	6	113				
ST3GAL1	6482	broad.mit.edu	37	8	134488181	134488181	+	Silent	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:134488181G>C	ENST00000319914.5	-	4	1114	c.87C>G	c.(85-87)tcC>tcG	p.S29S	ST3GAL1_ENST00000399640.2_Silent_p.S29S|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000522652.1_Silent_p.S29S|ST3GAL1_ENST00000521180.1_Silent_p.S29S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	29					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCATGGTGTGGGAGTAGTTCA	0.572																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(85-87)tcC>tcG		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							100.0	92.0	95.0					8																	134488181		2203	4300	6503	SO:0001819	synonymous_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488181G>C	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.87C>G	8.37:g.134488181G>C						ST3GAL1_ENST00000521180.1_Silent_p.S29S|ST3GAL1_ENST00000522652.1_Silent_p.S29S|ST3GAL1_ENST00000399640.2_Silent_p.S29S	p.S29S			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		4	1114	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		29					O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	c.87C>G	CCDS6373.1																																																																																				0.572	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		4	125	0	0	0	1	0	4	125				
PALD1	27143	broad.mit.edu	37	10	72298723	72298723	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:72298723C>T	ENST00000263563.6	+	13	1796	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	510						cytosol (GO:0005829)											CCGGCGGGTGCCCCGCATGCC	0.692																																						ENST00000263563.6																			0											c.(1528-1530)Ccc>Tcc		phosphatase domain containing, paladin 1							52.0	57.0	55.0					10																	72298723		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72298723C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1528C>T	10.37:g.72298723C>T	ENSP00000263563:p.Pro510Ser						p.P510S	NM_014431.2	NP_055246.2					13	1796	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1528C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	c	13.71	2.317142	0.40996	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.32515	1.45	5.01	3.01	0.34805	.	0.051604	0.85682	N	0.000000	T	0.30885	0.0779	M	0.65320	2	0.50813	D	0.999898	B	0.25235	0.121	B	0.25140	0.058	T	0.16808	-1.0390	10	0.48119	T	0.1	-19.1781	11.6538	0.51306	0.0:0.786:0.1359:0.0781	.	510	Q9ULE6	PALD_HUMAN	S	510	ENSP00000263563:P510S	ENSP00000263563:P510S	P	+	1	0	KIAA1274	71968729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.221000	0.58574	1.105000	0.41606	0.542000	0.68232	CCC		0.692	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		5	134	0	0	0	1	0	5	134				
HIPK3	10114	broad.mit.edu	37	11	33370281	33370281	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:33370281C>A	ENST00000303296.4	+	13	2888	c.2583C>A	c.(2581-2583)gaC>gaA	p.D861E	HIPK3_ENST00000525975.1_Missense_Mutation_p.D840E|HIPK3_ENST00000456517.1_Missense_Mutation_p.D840E|HIPK3_ENST00000379016.3_Missense_Mutation_p.D840E	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	861	Interaction with AR. {ECO:0000250}.|Interaction with FAS. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTATTGCCGACTCCCCGAGTC	0.473																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(2581-2583)gaC>gaA		homeodomain interacting protein kinase 3							93.0	86.0	89.0					11																	33370281		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33370281C>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2583C>A	11.37:g.33370281C>A	ENSP00000304226:p.Asp861Glu					HIPK3_ENST00000379016.3_Missense_Mutation_p.D840E|HIPK3_ENST00000525975.1_Missense_Mutation_p.D840E|HIPK3_ENST00000456517.1_Missense_Mutation_p.D840E	p.D861E	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			13	2888	+			861			Interaction with AR (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.2583C>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.973068	0.34848	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.69306	-0.39;-0.18;-0.39;-0.39	5.71	1.25	0.21368	.	0.086980	0.49305	D	0.000157	T	0.62804	0.2458	L	0.56340	1.77	0.42745	D	0.993758	P;B	0.39480	0.675;0.365	B;B	0.43658	0.426;0.126	T	0.62001	-0.6946	10	0.56958	D	0.05	.	9.6735	0.40026	0.0:0.4916:0.0:0.5084	.	840;861	Q9H422-2;Q9H422	.;HIPK3_HUMAN	E	840;861;840;840	ENSP00000431710:D840E;ENSP00000304226:D861E;ENSP00000368301:D840E;ENSP00000398241:D840E	ENSP00000304226:D861E	D	+	3	2	HIPK3	33326857	0.858000	0.29795	0.994000	0.49952	0.785000	0.44390	-0.043000	0.12043	0.293000	0.22520	0.650000	0.86243	GAC		0.473	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		7	98	1	0	0.00307968	1	0.0033064	7	98				
TENM2	57451	broad.mit.edu	37	5	167642135	167642135	+	Silent	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:167642135C>G	ENST00000518659.1	+	21	3975	c.3936C>G	c.(3934-3936)cgC>cgG	p.R1312R	TENM2_ENST00000403607.2_Silent_p.R1136R|TENM2_ENST00000519204.1_Silent_p.R1191R|TENM2_ENST00000545108.1_Silent_p.R1311R|TENM2_ENST00000520394.1_Silent_p.R1073R	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1312					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GAATCTACCGCGTCAAGTCTC	0.567																																						ENST00000519204.1																			0											c.(3571-3573)cgC>cgG		teneurin transmembrane protein 2							102.0	105.0	104.0					5																	167642135		1950	4145	6095	SO:0001819	synonymous_variant	57451							g.chr5:167642135C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3936C>G	5.37:g.167642135C>G						TENM2_ENST00000518659.1_Silent_p.R1312R|TENM2_ENST00000545108.1_Silent_p.R1311R|TENM2_ENST00000520394.1_Silent_p.R1073R|TENM2_ENST00000403607.2_Silent_p.R1136R	p.R1191R							20	3691	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.3573C>G																																																																																					0.567	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	102	0	0	0	1	0	6	102				
SOBP	55084	broad.mit.edu	37	6	107827592	107827592	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:107827592G>A	ENST00000317357.5	+	3	1041	c.382G>A	c.(382-384)Gta>Ata	p.V128I		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCCCATTATTGTACCTTTAAT	0.423																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(382-384)Gta>Ata		sine oculis binding protein homolog (Drosophila)							210.0	201.0	204.0					6																	107827592		1920	4144	6064	SO:0001583	missense	55084						metal ion binding	g.chr6:107827592G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.382G>A	6.37:g.107827592G>A	ENSP00000318900:p.Val128Ile						p.V128I	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	3	1041	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	128						Missense_Mutation	SNP	ENST00000317357.5	37	c.382G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957871	0.92726	.	.	ENSG00000112320	ENST00000317357	T	0.22539	1.95	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.38175	1.15	0.58432	D	0.999999	D	0.67145	0.996	D	0.77557	0.99	T	0.01238	-1.1409	10	0.37606	T	0.19	-6.4116	19.1981	0.93698	0.0:0.0:1.0:0.0	.	128	A7XYQ1	SOBP_HUMAN	I	128	ENSP00000318900:V128I	ENSP00000318900:V128I	V	+	1	0	SOBP	107934285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.145000	0.94634	2.615000	0.88500	0.655000	0.94253	GTA		0.423	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		17	162	0	0	0	1	0	17	162				
MYLK2	85366	broad.mit.edu	37	20	30408169	30408169	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30408169C>T	ENST00000375994.2	+	2	566	c.293C>T	c.(292-294)cCc>cTc	p.P98L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P98L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	98					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGCCCTGCCCCAGCAGACT	0.687																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(292-294)cCc>cTc		myosin light chain kinase 2							19.0	24.0	22.0					20																	30408169		2200	4291	6491	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30408169C>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.293C>T	20.37:g.30408169C>T	ENSP00000365162:p.Pro98Leu					MYLK2_ENST00000375985.4_Missense_Mutation_p.P98L	p.P98L			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		2	566	+			98					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.293C>T	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441381	0.63067	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.67865	-0.29;-0.29	4.7	3.76	0.43208	.	.	.	.	.	T	0.54191	0.1843	L	0.36672	1.1	0.43637	D	0.996031	B	0.18310	0.027	B	0.15052	0.012	T	0.54309	-0.8313	9	0.66056	D	0.02	.	8.7103	0.34380	0.0:0.8975:0.0:0.1025	.	98	Q9H1R3	MYLK2_HUMAN	L	98	ENSP00000365162:P98L;ENSP00000365152:P98L	ENSP00000365152:P98L	P	+	2	0	MYLK2	29871830	0.990000	0.36364	0.999000	0.59377	0.720000	0.41350	2.364000	0.44187	1.207000	0.43291	0.561000	0.74099	CCC		0.687	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		7	40	0	0	0	1	0	7	40				
ADAMTS14	140766	broad.mit.edu	37	10	72511284	72511284	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:72511284C>T	ENST00000373207.1	+	17	2478	c.2478C>T	c.(2476-2478)taC>taT	p.Y826Y	ADAMTS14_ENST00000373208.1_Silent_p.Y829Y	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	826	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTACAAGTACGTCATCCATG	0.627																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2485-2487)taC>taT		ADAM metallopeptidase with thrombospondin type 1 motif, 14							64.0	64.0	64.0					10																	72511284		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72511284C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2478C>T	10.37:g.72511284C>T						ADAMTS14_ENST00000373207.1_Silent_p.Y826Y	p.Y829Y	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			17	2487	+			826			Spacer.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.2487C>T	CCDS7306.1																																																																																				0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		5	124	0	0	0	1	0	5	124				
ZFP42	132625	broad.mit.edu	37	4	188924707	188924707	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr4:188924707T>G	ENST00000326866.4	+	4	1154	c.746T>G	c.(745-747)tTt>tGt	p.F249C	ZFP42_ENST00000509524.1_Missense_Mutation_p.F249C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	249					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CGGTGCACTTTTGAAGGGTGC	0.517																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(745-747)tTt>tGt		ZFP42 zinc finger protein							82.0	85.0	84.0					4																	188924707		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924707T>G	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.746T>G	4.37:g.188924707T>G	ENSP00000317686:p.Phe249Cys					ZFP42_ENST00000509524.1_Missense_Mutation_p.F249C	p.F249C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1154	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	249					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.746T>G	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082261	0.36758	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.47869	0.83;0.83	4.39	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.49640	1.575	0.35004	D	0.756206	D	0.89917	1.0	D	0.77557	0.99	T	0.64347	-0.6429	10	0.62326	D	0.03	.	8.2353	0.31622	0.3165:0.0:0.0:0.6834	.	249	Q96MM3	ZFP42_HUMAN	C	249	ENSP00000317686:F249C;ENSP00000424662:F249C	ENSP00000317686:F249C	F	+	2	0	ZFP42	189161701	1.000000	0.71417	0.015000	0.15790	0.011000	0.07611	4.762000	0.62250	0.396000	0.25283	0.533000	0.62120	TTT		0.517	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		13	59	0	0	0	1	0	13	59				
SOX6	55553	broad.mit.edu	37	11	16071443	16071443	+	Silent	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:16071443G>T	ENST00000352083.6	-	11	1370	c.1293C>A	c.(1291-1293)ccC>ccA	p.P431P	SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000316399.6_Silent_p.P431P|SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000528429.1_Silent_p.P431P|SOX6_ENST00000527619.1_Silent_p.P393P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	431					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCTGTCTTGGGTCGGGATG	0.463																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1291-1293)ccC>ccA		SRY (sex determining region Y)-box 6							211.0	220.0	217.0					11																	16071443		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16071443G>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1293C>A	11.37:g.16071443G>T						SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000527619.1_Silent_p.P393P|SOX6_ENST00000316399.6_Silent_p.P431P|SOX6_ENST00000528429.1_Silent_p.P431P	p.P431P			P35712	SOX6_HUMAN			11	1370	-			431					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1293C>A																																																																																					0.463	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		13	255	1	0	9.31168e-06	1	1.08636e-05	13	255				
OTOA	146183	broad.mit.edu	37	16	21690532	21690532	+	Splice_Site	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:21690532G>T	ENST00000286149.4	+	4	180	c.179G>T	c.(178-180)aGc>aTc	p.S60I	OTOA_ENST00000388958.3_Splice_Site_p.S60I			Q7RTW8	OTOAN_HUMAN	otoancorin	60					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGTTTCAAAGGTAAAATGCC	0.343																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.e4+1		otoancorin							95.0	98.0	97.0					16																	21690532		2198	4300	6498	SO:0001630	splice_region_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21690532G>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.179+1G>T	16.37:g.21690532G>T						OTOA_ENST00000286149.4_Splice_Site_p.S60_splice	p.S60_splice	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	4	180	+			60					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Splice_Site	SNP	ENST00000286149.4	37	c.179_splice		.	.	.	.	.	.	.	.	.	.	G	21.6	4.180185	0.78564	.	.	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.68765	-0.35;-0.34	5.99	5.99	0.97316	.	0.262435	0.39274	N	0.001416	T	0.72486	0.3466	L	0.59436	1.845	0.80722	D	1	P	0.50617	0.937	P	0.50754	0.649	T	0.74654	-0.3593	10	0.72032	D	0.01	-0.6554	16.0274	0.80553	0.0:0.0:1.0:0.0	.	60	E9PF51	.	I	60	ENSP00000373610:S60I;ENSP00000286149:S60I	ENSP00000286149:S60I	S	+	2	0	OTOA	21598033	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.862000	0.69560	2.846000	0.97976	0.644000	0.83932	AGC		0.343	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		Missense_Mutation	6	55	1	0	0.0293803	1	0.0300676	6	55				
OCM2	4951	broad.mit.edu	37	7	97614280	97614280	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:97614280A>G	ENST00000257627.4	-	4	411	c.320T>C	c.(319-321)gTg>gCg	p.V107A	OCM2_ENST00000473987.2_5'Flank	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	107	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TTAAGAATGCACCATTTCCTG	0.498																																						ENST00000257627.4																			0				lung(4)	4						c.(319-321)gTg>gCg		oncomodulin 2							53.0	53.0	53.0					7																	97614280		2203	4297	6500	SO:0001583	missense	4951						calcium ion binding	g.chr7:97614280A>G	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.320T>C	7.37:g.97614280A>G	ENSP00000257627:p.Val107Ala						p.V107A	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN			4	411	-			107			EF-hand 2.		P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	c.320T>C	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	a	17.78	3.473408	0.63737	.	.	ENSG00000135175	ENST00000257627	T	0.75367	-0.93	3.62	3.62	0.41486	EF-hand-like domain (1);	0.160032	0.41097	D	0.000950	T	0.81039	0.4740	L	0.55017	1.72	0.43342	D	0.99539	D	0.89917	1.0	D	0.91635	0.999	T	0.81614	-0.0853	10	0.66056	D	0.02	-4.5729	9.7741	0.40607	1.0:0.0:0.0:0.0	.	107	P0CE71	OCM2_HUMAN	A	107	ENSP00000257627:V107A	ENSP00000257627:V107A	V	-	2	0	OCM2	97452216	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.799000	0.62517	1.526000	0.49068	0.397000	0.26171	GTG		0.498	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		15	20	0	0	0	1	0	15	20				
SLITRK5	26050	broad.mit.edu	37	13	88328640	88328640	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:88328640G>C	ENST00000325089.6	+	2	1216	c.997G>C	c.(997-999)Ggg>Cgg	p.G333R	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G92R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	333					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCCCTAAGGGGACTCGCCA	0.582																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(997-999)Ggg>Cgg		SLIT and NTRK-like family, member 5							63.0	70.0	67.0					13																	88328640		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328640G>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.997G>C	13.37:g.88328640G>C	ENSP00000366283:p.Gly333Arg					SLITRK5_ENST00000400028.3_Missense_Mutation_p.G92R	p.G333R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1216	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		333					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.997G>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428320	0.43122	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58060	0.36;0.67	5.85	5.85	0.93711	.	0.057006	0.64402	D	0.000001	T	0.44912	0.1316	L	0.44542	1.39	0.50632	D	0.999889	P;B	0.46859	0.885;0.389	B;B	0.41860	0.368;0.25	T	0.35500	-0.9786	9	.	.	.	-15.0226	11.0032	0.47618	0.0838:0.0:0.9162:0.0	.	92;333	B4DSH5;O94991	.;SLIK5_HUMAN	R	333;92	ENSP00000366283:G333R;ENSP00000442244:G92R	.	G	+	1	0	SLITRK5	87126641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.026000	0.88783	2.771000	0.95319	0.561000	0.74099	GGG		0.582	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			4	161	0	0	0	1	0	4	161				
SEMA3E	9723	broad.mit.edu	37	7	83037758	83037758	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:83037758T>C	ENST00000307792.3	-	6	1063	c.596A>G	c.(595-597)gAc>gGc	p.D199G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D139G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	199	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATCGCAGCGTCTCTGCTCCA	0.458																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(595-597)gAc>gGc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							60.0	55.0	56.0					7																	83037758		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83037758T>C	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.596A>G	7.37:g.83037758T>C	ENSP00000303212:p.Asp199Gly					SEMA3E_ENST00000427262.1_Missense_Mutation_p.D139G	p.D199G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			6	1063	-		Medulloblastoma(109;0.109)	199			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.596A>G	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068751	0.76301	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.16597	2.33;2.33;2.33	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66960	-0.5791	10	0.87932	D	0	.	16.3182	0.82936	0.0:0.0:0.0:1.0	.	199	O15041	SEM3E_HUMAN	G	199;139;199;139	ENSP00000303212:D199G;ENSP00000405052:D139G;ENSP00000412867:D139G	ENSP00000303212:D199G	D	-	2	0	SEMA3E	82875694	1.000000	0.71417	0.941000	0.38009	0.119000	0.20118	7.540000	0.82074	2.259000	0.74868	0.482000	0.46254	GAC		0.458	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		12	21	0	0	0	1	0	12	21				
DAW1	164781	broad.mit.edu	37	2	228786194	228786194	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:228786194G>A	ENST00000309931.2	+	12	1213	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	DAW1_ENST00000545118.1_Missense_Mutation_p.G362D|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	377						cilium (GO:0005929)											GCTCAGACTGGCCAGTGCCTC	0.433																																						ENST00000309931.2																			0											c.(1129-1131)gGc>gAc		dynein assembly factor with WDR repeat domains 1							92.0	90.0	91.0					2																	228786194		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228786194G>A		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1130G>A	2.37:g.228786194G>A	ENSP00000311899:p.Gly377Asp					DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.G362D	p.G377D	NM_178821.1	NP_849143.1					12	1213	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.1130G>A	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833715	0.91036	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	T;T	0.63913	-0.07;-0.07	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.90145	3.09	0.80722	D	1	D	0.61697	0.99	D	0.71414	0.973	D	0.86621	0.1879	10	0.87932	D	0	.	18.1995	0.89833	0.0:0.0:1.0:0.0	.	377	Q8N136	WDR69_HUMAN	D	377;362	ENSP00000311899:G377D;ENSP00000437887:G362D	ENSP00000311899:G377D	G	+	2	0	WDR69	228494438	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.900000	0.92551	2.532000	0.85374	0.650000	0.86243	GGC		0.433	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		12	61	0	0	0	1	0	12	61				
IL9	3578	broad.mit.edu	37	5	135228145	135228145	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:135228145A>G	ENST00000274520.1	-	5	380	c.370T>C	c.(370-372)Ttt>Ctt	p.F124L		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	124					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCTTCAGAAATGTCAGCGCG	0.378																																						ENST00000274520.1																			0				large_intestine(3)|lung(2)|pancreas(1)	6						c.(370-372)Ttt>Ctt		interleukin 9							71.0	79.0	76.0					5																	135228145		2203	4300	6503	SO:0001583	missense	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135228145A>G	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.370T>C	5.37:g.135228145A>G	ENSP00000274520:p.Phe124Leu						p.F124L	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	380	-			124						Missense_Mutation	SNP	ENST00000274520.1	37	c.370T>C	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228791	0.58777	.	.	ENSG00000145839	ENST00000274520	T	0.56776	0.44	5.48	5.48	0.80851	Interleukin-7/-9, conserved site (1);	0.000000	0.64402	D	0.000019	T	0.69260	0.3091	M	0.65498	2.005	0.43218	D	0.995099	D	0.89917	1.0	D	0.91635	0.999	T	0.72649	-0.4229	10	0.87932	D	0	-2.6444	11.9707	0.53062	1.0:0.0:0.0:0.0	.	124	P15248	IL9_HUMAN	L	124	ENSP00000274520:F124L	ENSP00000274520:F124L	F	-	1	0	IL9	135256044	0.994000	0.37717	0.784000	0.31847	0.018000	0.09664	4.247000	0.58750	2.087000	0.62958	0.533000	0.62120	TTT		0.378	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		7	47	0	0	0	1	0	7	47				
EEF2	1938	broad.mit.edu	37	19	3984203	3984203	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:3984203C>G	ENST00000309311.6	-	2	237	c.149G>C	c.(148-150)cGg>cCg	p.R50P	EEF2_ENST00000600720.1_5'UTR|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	50	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCGGCCCGGGCCGAGGC	0.622																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(148-150)cGg>cCg		eukaryotic translation elongation factor 2							117.0	111.0	113.0					19																	3984203		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3984203C>G	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.149G>C	19.37:g.3984203C>G	ENSP00000307940:p.Arg50Pro					EEF2_ENST00000600720.1_5'UTR	p.R50P	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	2	237	-		Hepatocellular(1079;0.137)	50					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.149G>C	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646463	0.87958	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.75821	-0.97	5.34	5.34	0.76211	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	L	0.55103	1.725	0.80722	D	1	P	0.43633	0.813	P	0.47044	0.535	T	0.79981	-0.1574	10	0.66056	D	0.02	-43.7742	18.0214	0.89255	0.0:1.0:0.0:0.0	.	50	P13639	EF2_HUMAN	P	50	ENSP00000307940:R50P	ENSP00000307940:R50P	R	-	2	0	EEF2	3935203	1.000000	0.71417	0.557000	0.28306	0.482000	0.33219	7.599000	0.82757	2.489000	0.83994	0.655000	0.94253	CGG		0.622	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		32	121	0	0	0	1	0	32	121				
ANKLE1	126549	broad.mit.edu	37	19	17394177	17394177	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:17394177A>G	ENST00000394458.3	+	5	880	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	ANKLE1_ENST00000598347.1_Missense_Mutation_p.K202E|ANKLE1_ENST00000594072.1_Missense_Mutation_p.K191E|ANKLE1_ENST00000433424.2_Missense_Mutation_p.K256E|ANKLE1_ENST00000404085.1_Missense_Mutation_p.K224E	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	202										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						AACTGTGGACAAACATGGGAG	0.602																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(604-606)Aaa>Gaa		ankyrin repeat and LEM domain containing 1							78.0	89.0	85.0					19																	17394177		2202	4299	6501	SO:0001583	missense	126549					nuclear envelope		g.chr19:17394177A>G	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.604A>G	19.37:g.17394177A>G	ENSP00000377971:p.Lys202Glu					ANKLE1_ENST00000404085.1_Missense_Mutation_p.K224E|ANKLE1_ENST00000598347.1_Missense_Mutation_p.K202E|ANKLE1_ENST00000594072.1_Missense_Mutation_p.K191E|ANKLE1_ENST00000433424.2_Missense_Mutation_p.K256E	p.K202E	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			5	880	+			202					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.604A>G	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	A	6.252	0.414595	0.11870	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.71341	-0.42;-0.51;-0.56	3.87	-7.16	0.01516	.	3.542530	0.01307	N	0.010505	T	0.38639	0.1048	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18166	0.026;0.002;0.0;0.0	B;B;B;B	0.14023	0.01;0.004;0.001;0.0	T	0.49781	-0.8903	10	0.05351	T	0.99	-18.8331	2.1543	0.03808	0.3319:0.191:0.3586:0.1185	.	202;188;202;191	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	E	202;256;224;191;202	ENSP00000384753:K202E;ENSP00000394460:K256E;ENSP00000384008:K224E	ENSP00000377971:K191E	K	+	1	0	ANKLE1	17255177	0.000000	0.05858	0.000000	0.03702	0.693000	0.40251	-1.671000	0.01954	-1.744000	0.01338	0.260000	0.18958	AAA		0.602	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		5	125	0	0	0	1	0	5	125				
LIG3	3980	broad.mit.edu	37	17	33324773	33324773	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:33324773C>T	ENST00000378526.4	+	12	1973	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	LIG3_ENST00000262327.5_Missense_Mutation_p.R614W	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	614					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GTGTGAGCGGCGGAAGTTTCT	0.488								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1840-1842)Cgg>Tgg	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						98.0	86.0	90.0					17																	33324773		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33324773C>T		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1840C>T	17.37:g.33324773C>T	ENSP00000367787:p.Arg614Trp					LIG3_ENST00000262327.5_Missense_Mutation_p.R614W	p.R614W	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			12	1973	+		Ovarian(249;0.17)	614					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.1840C>T	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506929	0.85282	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	D;D	0.86497	-2.13;-2.13	5.91	4.93	0.64822	DNA ligase, ATP-dependent, central (2);	0.000000	0.85682	D	0.000000	D	0.94905	0.8353	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95998	0.8991	10	0.87932	D	0	-17.6091	15.4132	0.74943	0.14:0.86:0.0:0.0	.	614;614	P49916;E5KLB6	DNLI3_HUMAN;.	W	614	ENSP00000367787:R614W;ENSP00000262327:R614W	ENSP00000262327:R614W	R	+	1	2	LIG3	30348886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.008000	0.63991	1.469000	0.48083	0.655000	0.94253	CGG		0.488	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		6	62	0	0	0	1	0	6	62				
CD5L	922	broad.mit.edu	37	1	157804437	157804437	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:157804437A>T	ENST00000368174.4	-	4	574	c.478T>A	c.(478-480)Tat>Aat	p.Y160N	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	160	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACACGGTATACCACTGGTTC	0.617																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(478-480)Tat>Aat		CD5 molecule-like							102.0	100.0	101.0					1																	157804437		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804437A>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.478T>A	1.37:g.157804437A>T	ENSP00000357156:p.Tyr160Asn						p.Y160N	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	574	-	all_hematologic(112;0.0378)		160			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.478T>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427948	0.43122	.	.	ENSG00000073754	ENST00000368174	T	0.33654	1.4	5.13	0.478	0.16789	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.816381	0.10814	N	0.631211	T	0.05960	0.0155	N	0.12569	0.235	0.30043	N	0.812441	B	0.21452	0.056	B	0.12837	0.008	T	0.25152	-1.0140	10	0.87932	D	0	.	0.4651	0.00523	0.1948:0.3236:0.1754:0.3062	.	160	O43866	CD5L_HUMAN	N	160	ENSP00000357156:Y160N	ENSP00000357156:Y160N	Y	-	1	0	CD5L	156071061	0.635000	0.27199	0.401000	0.26359	0.001000	0.01503	0.728000	0.26013	0.192000	0.20272	-0.339000	0.08088	TAT		0.617	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		21	127	0	0	0	1	0	21	127				
AGPAT3	56894	broad.mit.edu	37	21	45389131	45389131	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr21:45389131C>T	ENST00000398063.2	+	4	973	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	AGPAT3_ENST00000291572.8_Missense_Mutation_p.R161C|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R161C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R161C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	161					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGGGCTGAGGCGCCTGTCGGA	0.637																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(481-483)Cgc>Tgc		1-acylglycerol-3-phosphate O-acyltransferase 3							141.0	125.0	130.0					21																	45389131		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45389131C>T	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.481C>T	21.37:g.45389131C>T	ENSP00000381140:p.Arg161Cys					AGPAT3_ENST00000398061.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R161C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R161C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R161C	p.R161C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	4	973	+			161					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.481C>T	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	7.278	0.608515	0.14002	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000422850;ENST00000546158	D;D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	4.5	1.5	0.22942	Phospholipid/glycerol acyltransferase (2);	0.457836	0.24046	N	0.042054	D	0.87951	0.6307	L	0.46157	1.445	0.24018	N	0.996153	B;B	0.21147	0.052;0.01	B;B	0.17979	0.019;0.02	T	0.79313	-0.1855	10	0.62326	D	0.03	-26.8953	4.8609	0.13583	0.4099:0.4286:0.0:0.1615	.	181;161	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	C	161	ENSP00000291572:R161C;ENSP00000381138:R161C;ENSP00000332989:R161C;ENSP00000381140:R161C;ENSP00000381135:R161C;ENSP00000413906:R161C;ENSP00000414440:R161C;ENSP00000443510:R161C	ENSP00000291572:R161C	R	+	1	0	AGPAT3	44213559	0.000000	0.05858	0.104000	0.21259	0.159000	0.22180	-0.360000	0.07622	0.348000	0.23949	0.491000	0.48974	CGC		0.637	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		4	131	0	0	0	1	0	4	131				
RUNX1T1	862	broad.mit.edu	37	8	92999165	92999165	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:92999165G>C	ENST00000523629.1	-	8	1481	c.1027C>G	c.(1027-1029)Cac>Gac	p.H343D	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H343D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H354D|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H306D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	343	Important for oligomerization.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H306N(1)|p.H354N(1)|p.H343N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTTAGTCTGTGATCAATCATT	0.388																																						ENST00000523629.1																			3	Substitution - Missense(3)	p.H306N(1)|p.H354N(1)|p.H343N(1)	endometrium(3)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1027-1029)Cac>Gac		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							255.0	224.0	235.0					8																	92999165		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92999165G>C	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1027C>G	8.37:g.92999165G>C	ENSP00000428543:p.His343Asp					RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H343D|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H354D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H306D	p.H343D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		8	1481	-			343			Important for oligomerization.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1027C>G	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988419	0.74589	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.39	5.39	0.77823	NHR2-like (1);	0.095971	0.64402	D	0.000001	T	0.57431	0.2053	L	0.51422	1.61	0.80722	D	1	B;P;B	0.45768	0.399;0.866;0.248	B;P;B	0.51297	0.147;0.665;0.149	T	0.58255	-0.7668	10	0.56958	D	0.05	-19.3213	19.1841	0.93635	0.0:0.0:1.0:0.0	.	354;343;316	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	D	343;316;343;306;306;306;354;316	ENSP00000428543:H343D;ENSP00000379520:H316D;ENSP00000265814:H343D;ENSP00000353504:H306D;ENSP00000390137:H306D;ENSP00000428742:H306D;ENSP00000402257:H354D;ENSP00000430728:H316D	ENSP00000265814:H343D	H	-	1	0	RUNX1T1	93068341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.537000	0.85549	0.655000	0.94253	CAC		0.388	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		8	171	0	0	0	1	0	8	171				
KCTD16	57528	broad.mit.edu	37	5	143587109	143587109	+	Splice_Site	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:143587109C>G	ENST00000507359.3	+	2	1923	c.832C>G	c.(832-834)Cgt>Ggt	p.R278G	KCTD16_ENST00000512467.1_Splice_Site_p.R278G	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	278					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGTCTTCTACCGTAAGTACAA	0.393																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.e2+1		potassium channel tetramerization domain containing 16							68.0	66.0	67.0					5																	143587109		2203	4300	6503	SO:0001630	splice_region_variant	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143587109C>G	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.832+1C>G	5.37:g.143587109C>G						KCTD16_ENST00000512467.1_Splice_Site_p.R278_splice	p.R278_splice	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1923	+		all_hematologic(541;0.118)	278					Q9P2M9	Splice_Site	SNP	ENST00000507359.3	37	c.832_splice	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164742	0.38217	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.60424	0.19;0.19	5.69	5.69	0.88448	.	0.331692	0.36932	N	0.002330	T	0.59418	0.2192	M	0.75884	2.315	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58115	-0.7693	10	0.56958	D	0.05	.	14.6345	0.68678	0.1455:0.8545:0.0:0.0	.	278	Q68DU8	KCD16_HUMAN	G	278	ENSP00000424151:R278G;ENSP00000426548:R278G	ENSP00000426548:R278G	R	+	1	0	KCTD16	143567302	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.885000	0.69736	2.700000	0.92200	0.561000	0.74099	CGT		0.393	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368	Missense_Mutation	5	65	0	0	0	1	0	5	65				
VPS13C	54832	broad.mit.edu	37	15	62212501	62212501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:62212501A>T	ENST00000261517.5	-	57	7315	c.7242T>A	c.(7240-7242)ttT>ttA	p.F2414L	VPS13C_ENST00000249837.3_Missense_Mutation_p.F2371L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2414L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2371L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGAGTAGTCAAAAGTAGAAG	0.373																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(7240-7242)ttT>ttA		vacuolar protein sorting 13 homolog C (S. cerevisiae)							57.0	60.0	59.0					15																	62212501		2201	4300	6501	SO:0001583	missense	54832				protein localization			g.chr15:62212501A>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7242T>A	15.37:g.62212501A>T	ENSP00000261517:p.Phe2414Leu					VPS13C_ENST00000249837.3_Missense_Mutation_p.F2371L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2414L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2371L	p.F2414L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			57	7315	-			2414						Missense_Mutation	SNP	ENST00000261517.5	37	c.7242T>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753105	0.31046	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.41400	1.0;1.0;1.0	5.74	3.44	0.39384	.	0.159391	0.56097	D	0.000025	T	0.34366	0.0895	M	0.73962	2.25	0.47123	D	0.99932	B;B;P;B	0.37985	0.139;0.321;0.613;0.215	B;B;B;B	0.31946	0.089;0.138;0.138;0.101	T	0.17289	-1.0374	10	0.08599	T	0.76	.	8.8737	0.35332	0.7886:0.0:0.2114:0.0	.	2371;2414;2371;2414	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	2371;2414;2414;2414	ENSP00000249837:F2371L;ENSP00000261517:F2414L;ENSP00000379233:F2414L	ENSP00000249837:F2371L	F	-	3	2	VPS13C	59999793	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.215000	0.32431	0.450000	0.26774	0.528000	0.53228	TTT		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		4	36	0	0	0	1	0	4	36				
OR13C5	138799	broad.mit.edu	37	9	107361057	107361057	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:107361057A>T	ENST00000374779.2	-	1	731	c.638T>A	c.(637-639)tTa>tAa	p.L213*		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GACAATAATTAATAACAAAGG	0.423																																						ENST00000374779.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(637-639)tTa>tAa		olfactory receptor, family 13, subfamily C, member 5							141.0	134.0	136.0					9																	107361057		2203	4300	6503	SO:0001587	stop_gained	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361057A>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.638T>A	9.37:g.107361057A>T	ENSP00000363911:p.Leu213*						p.L213*	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	731	-			213					B2RNE5|B9EGW5|Q6IF53	Nonsense_Mutation	SNP	ENST00000374779.2	37	c.638T>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	A	33	5.253696	0.95336	.	.	ENSG00000255800	ENST00000374779	.	.	.	4.03	2.89	0.33648	.	0.000000	0.30043	U	0.010554	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3735	0.26815	0.8922:0.0:0.1078:0.0	.	.	.	.	X	213	.	ENSP00000363911:L213X	L	-	2	0	OR13C5	106400878	0.012000	0.17670	0.002000	0.10522	0.694000	0.40290	2.153000	0.42282	0.627000	0.30340	0.347000	0.21830	TTA		0.423	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		8	176	0	0	0	1	0	8	176				
LINC00933	100506874	broad.mit.edu	37	15	85121267	85121267	+	RNA	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:85121267C>T	ENST00000557887.1	+	0	467					NR_038273.1|NR_038274.1				long intergenic non-protein coding RNA 933																		GGAGGCCAGCCGAACACACAG	0.473																																						ENST00000557887.1																			0																																																			0							g.chr15:85121267C>T			15q25.2	2013-05-29			ENSG00000259728	ENSG00000259728		"""Long non-coding RNAs"""	48625	non-coding RNA	RNA, long non-coding							Standard	NR_038273		Approved				OTTHUMG00000172445		15.37:g.85121267C>T								NR_038273.1|NR_038274.1						0	467	+									RNA	SNP	ENST00000557887.1	37																																																																																						0.473	LINC00933-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000418591.1			4	57	0	0	0	1	0	4	57				
AMDHD1	144193	broad.mit.edu	37	12	96354372	96354372	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:96354372G>T	ENST00000266736.2	+	5	890	c.784G>T	c.(784-786)Gat>Tat	p.D262Y		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	262					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CTTCCATGGGGATGAACTCCA	0.408																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(784-786)Gat>Tat		amidohydrolase domain containing 1							99.0	97.0	98.0					12																	96354372		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96354372G>T	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.784G>T	12.37:g.96354372G>T	ENSP00000266736:p.Asp262Tyr						p.D262Y	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			5	890	+			262					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.784G>T	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351516	0.82132	.	.	ENSG00000139344	ENST00000266736	T	0.39406	1.08	5.55	5.55	0.83447	Metal-dependent hydrolase, composite domain (1);	0.083237	0.85682	D	0.000000	T	0.76765	0.4033	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83512	0.0081	10	0.87932	D	0	-0.7636	19.8741	0.96863	0.0:0.0:1.0:0.0	.	262	Q96NU7	HUTI_HUMAN	Y	262	ENSP00000266736:D262Y	ENSP00000266736:D262Y	D	+	1	0	AMDHD1	94878503	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	9.062000	0.93920	2.761000	0.94854	0.655000	0.94253	GAT		0.408	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		14	87	1	0	1.5739e-10	1	1.91272e-10	14	87				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	140	0	0	0	1	0	4	140				
SGMS1	259230	broad.mit.edu	37	10	52103736	52103736	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:52103736G>A	ENST00000361781.2	-	7	1098	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.P47S	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	53	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184, ECO:0000305}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.P47T(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CACAAGGGGGGTTTTTTGAAA	0.512																																						ENST00000361781.2																			1	Substitution - Missense(1)	p.P47T(1)	endometrium(1)	endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(139-141)Ccc>Tcc		sphingomyelin synthase 1							62.0	65.0	64.0					10																	52103736		2203	4300	6503	SO:0001583	missense	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52103736G>A	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.139C>T	10.37:g.52103736G>A	ENSP00000354829:p.Pro47Ser					SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.P47S	p.P47S	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN			7	1098	-			53			SAM.		Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	37	c.139C>T	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477152	0.26511	.	.	ENSG00000198964	ENST00000361781;ENST00000361543	T;T	0.16897	2.31;2.31	5.62	1.64	0.23874	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.324284	0.37053	N	0.002270	T	0.17662	0.0424	L	0.58428	1.81	0.27744	N	0.944379	B	0.13145	0.007	B	0.15052	0.012	T	0.14062	-1.0486	10	0.49607	T	0.09	-16.3598	11.6307	0.51173	0.0:0.3733:0.4979:0.1288	.	53	Q86VZ5	SMS1_HUMAN	S	47	ENSP00000354829:P47S;ENSP00000355235:P47S	ENSP00000355235:P47S	P	-	1	0	SGMS1	51773742	1.000000	0.71417	0.261000	0.24466	0.967000	0.64934	1.939000	0.40213	0.044000	0.15775	-0.156000	0.13503	CCC		0.512	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		7	72	0	0	0	1	0	7	72				
SPTA1	6708	broad.mit.edu	37	1	158585163	158585163	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:158585163G>A	ENST00000368147.4	-	48	6811	c.6631C>T	c.(6631-6633)Cgt>Tgt	p.R2211C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2211					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)					GTTAGTTGACGCTTCATCGCC	0.478																																						ENST00000368148.3																			0				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						c.(6631-6633)Cgt>Tgt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							169.0	163.0	165.0					1																	158585163		1934	4147	6081	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.chr1:158585163G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6631C>T	1.37:g.158585163G>A	ENSP00000357129:p.Arg2211Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R2208C	p.R2211C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			48	6811	-	all_hematologic(112;0.0378)		2211					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6631C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641338	0.87859	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.44482	0.92;0.92	5.65	5.65	0.86999	.	0.258862	0.20581	N	0.089523	T	0.43853	0.1266	L	0.54323	1.7	0.49582	D	0.999809	D	0.61697	0.99	P	0.56788	0.806	T	0.33803	-0.9854	10	0.56958	D	0.05	.	11.9262	0.52820	0.0:0.0:0.7403:0.2597	.	2211	P02549	SPTA1_HUMAN	C	2211;2208	ENSP00000357130:R2211C;ENSP00000357129:R2208C	ENSP00000357129:R2208C	R	-	1	0	SPTA1	156851787	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	6.258000	0.72487	2.941000	0.99782	0.655000	0.94253	CGT		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		30	124	0	0	0	1	0	30	124				
PLAT	5327	broad.mit.edu	37	8	42038168	42038168	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:42038168A>T	ENST00000220809.4	-	10	1181	c.925T>A	c.(925-927)Ttt>Att	p.F309I	PLAT_ENST00000524009.1_Missense_Mutation_p.F220I|PLAT_ENST00000352041.3_Missense_Mutation_p.F263I|PLAT_ENST00000429710.2_Missense_Mutation_p.F183I|PLAT_ENST00000429089.2_Missense_Mutation_p.F309I|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.F246I	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	309					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TTGATGCGAAACTGAGGCTGG	0.632																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(925-927)Ttt>Att		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						58.0	55.0	56.0					8																	42038168		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42038168A>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.925T>A	8.37:g.42038168A>T	ENSP00000220809:p.Phe309Ile					PLAT_ENST00000519510.1_Missense_Mutation_p.F246I|PLAT_ENST00000429710.2_Missense_Mutation_p.F183I|PLAT_ENST00000524009.1_Missense_Mutation_p.F220I|PLAT_ENST00000429089.2_Missense_Mutation_p.F309I|PLAT_ENST00000352041.3_Missense_Mutation_p.F263I|PLAT_ENST00000270189.6_Intron	p.F309I	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		10	1181	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	309					A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.925T>A	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135484	0.37728	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.88509	-2.23;-2.23;-2.39;-2.23;-2.25;-2.24	5.38	-1.47	0.08772	Peptidase cysteine/serine, trypsin-like (1);	0.363979	0.33610	N	0.004731	D	0.82820	0.5120	M	0.64404	1.975	0.80722	D	1	B;B;B;B;P;P	0.46020	0.239;0.239;0.264;0.103;0.524;0.871	B;B;B;B;B;B	0.37047	0.049;0.049;0.099;0.014;0.108;0.24	T	0.76694	-0.2865	10	0.41790	T	0.15	.	10.331	0.43823	0.6748:0.0:0.3252:0.0	.	183;220;246;309;263;309	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	I	309;309;263;246;183;220	ENSP00000392045:F309I;ENSP00000220809:F309I;ENSP00000270188:F263I;ENSP00000428886:F246I;ENSP00000407861:F183I;ENSP00000429401:F220I	ENSP00000220809:F309I	F	-	1	0	PLAT	42157325	1.000000	0.71417	0.061000	0.19648	0.118000	0.20060	4.575000	0.60908	-0.401000	0.07644	-0.297000	0.09499	TTT		0.632	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		6	58	0	0	0	1	0	6	58				
SCN5A	6331	broad.mit.edu	37	3	38592950	38592950	+	Missense_Mutation	SNP	C	C	A	rs374557801		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:38592950C>A	ENST00000333535.4	-	28	5062	c.4913G>T	c.(4912-4914)cGa>cTa	p.R1638L	SCN5A_ENST00000443581.1_Missense_Mutation_p.R1637L|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1620L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1638L|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1637L|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1605L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1620L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1638					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGGCCCCTCGGATCAGTCT	0.592																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4912-4914)cGa>cTa		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						108.0	109.0	109.0					3																	38592950		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592950C>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4913G>T	3.37:g.38592950C>A	ENSP00000328968:p.Arg1638Leu					SCN5A_ENST00000414099.2_Missense_Mutation_p.R1620L|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1638L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1605L|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1620L|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1637L|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1637L	p.R1638L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5106	-	Medulloblastoma(35;0.163)		1638					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4913G>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693116	0.68271	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	H	0.95504	3.68	0.46044	D	0.998831	D;D;D;D;D;D	0.76494	0.995;0.999;0.997;0.979;0.994;0.973	D;D;D;P;D;P	0.85130	0.958;0.997;0.981;0.664;0.955;0.819	D	0.98813	1.0744	10	0.87932	D	0	.	11.0403	0.47827	0.0:0.9149:0.0:0.0851	.	1584;1605;1620;1638;1637;1638	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	L	1620;1637;1638;1584;1637;1620;1638;1605;1584;1584	ENSP00000398962:R1620L;ENSP00000398266:R1637L;ENSP00000410257:R1638L;ENSP00000388797:R1584L;ENSP00000397915:R1637L;ENSP00000416634:R1620L;ENSP00000328968:R1638L;ENSP00000399524:R1605L;ENSP00000403355:R1584L;ENSP00000413996:R1584L	ENSP00000328968:R1638L	R	-	2	0	SCN5A	38567954	0.994000	0.37717	0.996000	0.52242	0.981000	0.71138	3.188000	0.50958	2.353000	0.79882	0.561000	0.74099	CGA		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		8	158	1	0	0.00307968	1	0.0033064	8	158				
SALL1	6299	broad.mit.edu	37	16	51173806	51173806	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:51173806G>A	ENST00000251020.4	-	2	2360	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.T679M|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	776					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACAGCGTTCGTGAACTTCTT	0.557																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(2035-2037)aCg>aTg		spalt-like transcription factor 1							89.0	93.0	91.0					16																	51173806		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173806G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2327C>T	16.37:g.51173806G>A	ENSP00000251020:p.Thr776Met					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T776M	p.T679M	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2467	-		all_cancers(37;0.0322)	776					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2036C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750290	0.69533	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.79554	-1.28;-1.28	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.85141	0.5629	L	0.31578	0.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87023	0.2130	10	0.72032	D	0.01	.	18.7936	0.91985	0.0:0.0:1.0:0.0	.	776	Q9NSC2	SALL1_HUMAN	M	776;679;740	ENSP00000251020:T776M;ENSP00000407914:T679M	ENSP00000251020:T776M	T	-	2	0	SALL1	49731307	1.000000	0.71417	0.967000	0.41034	0.979000	0.70002	9.869000	0.99810	2.441000	0.82636	0.298000	0.19748	ACG		0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		12	73	0	0	0	1	0	12	73				
DOCK2	1794	broad.mit.edu	37	5	169507217	169507217	+	Silent	SNP	G	G	A	rs148811648	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:169507217G>A	ENST00000256935.8	+	50	5297	c.5217G>A	c.(5215-5217)gcG>gcA	p.A1739A	DOCK2_ENST00000520908.1_Silent_p.A1231A|DOCK2_ENST00000540750.1_Silent_p.A800A|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1739					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGAGCATGCGGCCATCCCCC	0.557													G|||	3	0.000599042	0.0	0.0	5008	,	,		18457	0.003		0.0	False		,,,				2504	0.0					ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5215-5217)gcG>gcA		dedicator of cytokinesis 2							139.0	114.0	122.0					5																	169507217		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169507217G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5217G>A	5.37:g.169507217G>A						DOCK2_ENST00000520908.1_Silent_p.A1231A|DOCK2_ENST00000540750.1_Silent_p.A800A|DOCK2_ENST00000523351.1_3'UTR	p.A1739A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		50	5297	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1739					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.5217G>A	CCDS4371.1																																																																																				0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		5	76	0	0	0	1	0	5	76				
SEC16B	89866	broad.mit.edu	37	1	177927436	177927436	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:177927436T>A	ENST00000308284.6	-	10	1285	c.1196A>T	c.(1195-1197)tAc>tTc	p.Y399F	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.Y400F	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	399					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTGCCGCTTGTACTTCTCCAG	0.572																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1195-1197)tAc>tTc		SEC16 homolog B (S. cerevisiae)							46.0	50.0	49.0					1																	177927436		1995	4164	6159	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177927436T>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1196A>T	1.37:g.177927436T>A	ENSP00000308339:p.Tyr399Phe					SEC16B_ENST00000464631.1_Missense_Mutation_p.Y400F|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	p.Y399F	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			10	1285	-			399					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.1196A>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.621209	0.46736	.	.	ENSG00000120341	ENST00000308284;ENST00000239472;ENST00000464631	T;T	0.44482	2.5;0.92	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000017	T	0.46889	0.1416	L	0.27053	0.805	0.41008	D	0.984989	D;D;D;D	0.76494	0.996;0.999;0.979;0.996	D;D;P;D	0.70935	0.934;0.971;0.74;0.934	T	0.31752	-0.9932	10	0.10636	T	0.68	-14.2652	14.6024	0.68450	0.0:0.0:0.0:1.0	.	400;400;399;96	E9PK14;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	F	399;114;400	ENSP00000308339:Y399F;ENSP00000431727:Y400F	ENSP00000239472:Y114F	Y	-	2	0	AL359075.1	176194059	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.364000	0.44187	1.993000	0.58246	0.523000	0.50628	TAC		0.572	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		9	33	0	0	0	1	0	9	33				
SRBD1	55133	broad.mit.edu	37	2	45773897	45773897	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:45773897A>G	ENST00000263736.4	-	14	1910	c.1848T>C	c.(1846-1848)taT>taC	p.Y616Y	SRBD1_ENST00000535761.1_Silent_p.Y135Y	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	616					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTGGTGCAAAATAATTCTTCA	0.403																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1846-1848)taT>taC		S1 RNA binding domain 1							157.0	144.0	148.0					2																	45773897		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45773897A>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1848T>C	2.37:g.45773897A>G						SRBD1_ENST00000535761.1_Silent_p.Y135Y	p.Y616Y	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		14	1910	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	616					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.1848T>C	CCDS1823.1																																																																																				0.403	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		3	65	0	0	0	1	0	3	65				
CHD7	55636	broad.mit.edu	37	8	61654328	61654328	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:61654328G>C	ENST00000423902.2	+	2	816	c.337G>C	c.(337-339)Gtg>Ctg	p.V113L	CHD7_ENST00000524602.1_Missense_Mutation_p.V113L|CHD7_ENST00000525508.1_Missense_Mutation_p.V113L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	113					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGTTCCTCAGGTGCCCCATGG	0.592																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(337-339)Gtg>Ctg		chromodomain helicase DNA binding protein 7							43.0	49.0	47.0					8																	61654328		2149	4249	6398	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654328G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.337G>C	8.37:g.61654328G>C	ENSP00000392028:p.Val113Leu					CHD7_ENST00000524602.1_Missense_Mutation_p.V113L|CHD7_ENST00000525508.1_Missense_Mutation_p.V113L	p.V113L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	816	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	113					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.337G>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759223	0.49468	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	T;T;T	0.53206	0.63;0.63;0.63	5.36	5.36	0.76844	.	0.000000	0.36268	N	0.002683	T	0.53270	0.1786	N	0.22421	0.69	0.46011	D	0.99881	P	0.44690	0.841	P	0.55824	0.785	T	0.55761	-0.8090	10	0.56958	D	0.05	-12.2606	19.0882	0.93215	0.0:0.0:1.0:0.0	.	113	Q9P2D1	CHD7_HUMAN	L	113	ENSP00000392028:V113L;ENSP00000437061:V113L;ENSP00000436027:V113L	ENSP00000307304:V113L	V	+	1	0	CHD7	61816882	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.242000	0.78210	2.531000	0.85337	0.585000	0.79938	GTG		0.592	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	34	0	0	0	1	0	7	34				
DAB1	1600	broad.mit.edu	37	1	57480801	57480801	+	Missense_Mutation	SNP	C	C	T	rs372275203		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:57480801C>T	ENST00000371231.1	-	13	1332	c.1298G>A	c.(1297-1299)aGt>aAt	p.S433N	DAB1_ENST00000439789.2_Missense_Mutation_p.S314N|DAB1_ENST00000371236.2_Missense_Mutation_p.S400N|DAB1_ENST00000414851.2_Missense_Mutation_p.S382N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.S398N|DAB1_ENST00000371234.4_Missense_Mutation_p.S400N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	433					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGTCTGTGGACTTGACCTGGT	0.592																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1198-1200)aGt>aAt		Dab, reelin signal transducer, homolog 1 (Drosophila)		C	ASN/SER	0,4406		0,0,2203	77.0	72.0	74.0		1199	5.5	1.0	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	DAB1	NM_021080.3	46	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	400/556	57480801	1,13005	2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480801C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1298G>A	1.37:g.57480801C>T	ENSP00000360275:p.Ser433Asn					DAB1_ENST00000414851.2_Missense_Mutation_p.S382N|DAB1_ENST00000371234.4_Missense_Mutation_p.S400N|DAB1_ENST00000420954.2_Missense_Mutation_p.S398N|DAB1_ENST00000439789.2_Missense_Mutation_p.S314N|DAB1_ENST00000371231.1_Missense_Mutation_p.S433N|DAB1_ENST00000485760.1_5'UTR	p.S400N			O75553	DAB1_HUMAN			12	1462	-			433					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1199G>A		.	.	.	.	.	.	.	.	.	.	C	27.4	4.828558	0.90955	0.0	1.16E-4	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.51325	0.75;0.75;0.71;0.71;1.74;0.74	5.54	5.54	0.83059	.	0.036132	0.85682	D	0.000000	T	0.66247	0.2770	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.994;1.0	D;D;D;D;D	0.91635	0.997;0.998;0.997;0.91;0.999	T	0.58340	-0.7653	10	0.29301	T	0.29	-12.4709	19.6787	0.95950	0.0:1.0:0.0:0.0	.	382;433;400;314;398	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	N	400;400;400;398;382;314;433	ENSP00000360280:S400N;ENSP00000360278:S400N;ENSP00000395296:S398N;ENSP00000387581:S382N;ENSP00000409328:S314N;ENSP00000360275:S433N	ENSP00000360275:S433N	S	-	2	0	DAB1	57253389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.890000	0.99128	0.650000	0.86243	AGT		0.592	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		8	89	0	0	0	1	0	8	89				
EIF2AK4	440275	broad.mit.edu	37	15	40313180	40313180	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:40313180A>G	ENST00000263791.5	+	31	4297	c.4254A>G	c.(4252-4254)aaA>aaG	p.K1418K	EIF2AK4_ENST00000382727.2_Silent_p.K1390K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1418	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TAACCCAGAAACTCTGGACAG	0.478																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(4252-4254)aaA>aaG		eukaryotic translation initiation factor 2 alpha kinase 4							121.0	114.0	116.0					15																	40313180		2007	4169	6176	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40313180A>G	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4254A>G	15.37:g.40313180A>G						EIF2AK4_ENST00000382727.2_Silent_p.K1390K	p.K1418K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	31	4297	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1418			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.4254A>G	CCDS42016.1																																																																																				0.478	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			5	68	0	0	0	1	0	5	68				
SGOL2	151246	broad.mit.edu	37	2	201438669	201438669	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:201438669A>C	ENST00000357799.4	+	7	3698	c.3600A>C	c.(3598-3600)aaA>aaC	p.K1200N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1200					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.K1200N(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAAATTTAAAGTCAACCGGA	0.318																																						ENST00000357799.4																			1	Substitution - Missense(1)	p.K1200N(1)	lung(1)	NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(3598-3600)aaA>aaC		shugoshin-like 2 (S. pombe)							69.0	63.0	65.0					2																	201438669		1817	4076	5893	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201438669A>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3600A>C	2.37:g.201438669A>C	ENSP00000350447:p.Lys1200Asn						p.K1200N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	3698	+			1200					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.3600A>C	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.883765	0.33255	.	.	ENSG00000163535	ENST00000357799	T	0.12569	2.67	5.24	-2.16	0.07080	.	1.023730	0.07784	N	0.953751	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.10450	0.005;0.005;0.005	T	0.39742	-0.9599	10	0.39692	T	0.17	-0.2773	0.4076	0.00436	0.4022:0.1378:0.1635:0.2965	.	1200;1200;1200	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	1200	ENSP00000350447:K1200N	ENSP00000350447:K1200N	K	+	3	2	SGOL2	201146914	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.019000	0.13444	-0.513000	0.06496	-0.451000	0.05528	AAA		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		4	58	0	0	0	1	0	4	58				
ATP11B	23200	broad.mit.edu	37	3	182586927	182586927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182586927C>T	ENST00000323116.5	+	16	2010	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	584					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGTAATTGTTCAGGCACCTTC	0.299																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(1750-1752)Cag>Tag		ATPase, class VI, type 11B							70.0	73.0	72.0					3																	182586927		2203	4294	6497	SO:0001587	stop_gained	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182586927C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1750C>T	3.37:g.182586927C>T	ENSP00000321195:p.Gln584*						p.Q584*	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		16	2010	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		584					Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	ENST00000323116.5	37	c.1750C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	41	8.976178	0.99023	.	.	ENSG00000058063	ENST00000323116	.	.	.	5.9	3.96	0.45880	.	0.239759	0.43747	D	0.000535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	14.9527	0.71086	0.0:0.4944:0.5056:0.0	.	.	.	.	X	584	.	ENSP00000321195:Q584X	Q	+	1	0	ATP11B	184069621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.903000	0.39858	1.445000	0.47624	0.650000	0.86243	CAG		0.299	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		3	29	0	0	0	1	0	3	29				
STAB2	55576	broad.mit.edu	37	12	104046416	104046416	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:104046416A>G	ENST00000388887.2	+	12	1544	c.1340A>G	c.(1339-1341)tAt>tGt	p.Y447C	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACATCGAATATATGAATAAC	0.403																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1339-1341)tAt>tGt		stabilin 2							99.0	92.0	94.0					12																	104046416		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104046416A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1340A>G	12.37:g.104046416A>G	ENSP00000373539:p.Tyr447Cys						p.Y447C	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			12	1544	+			447			FAS1 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1340A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	7.039	0.562113	0.13498	.	.	ENSG00000136011	ENST00000388887	D	0.90444	-2.67	5.82	-10.4	0.00318	FAS1 domain (5);	4.856860	0.00447	N	0.000085	T	0.77089	0.4079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.64647	-0.6358	10	0.39692	T	0.17	.	8.5084	0.33201	0.1192:0.0911:0.6093:0.1804	.	447	Q8WWQ8	STAB2_HUMAN	C	447	ENSP00000373539:Y447C	ENSP00000373539:Y447C	Y	+	2	0	STAB2	102570546	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.463000	0.06696	-1.294000	0.02360	-0.290000	0.09829	TAT		0.403	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			9	29	0	0	0	1	0	9	29				
ABCC5	10057	broad.mit.edu	37	3	183669276	183669276	+	Missense_Mutation	SNP	G	G	A	rs199959386		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:183669276G>A	ENST00000334444.6	-	20	3137	c.2897C>T	c.(2896-2898)aCc>aTc	p.T966I	ABCC5_ENST00000265586.6_Missense_Mutation_p.T966I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	966	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCCTGTGGGGGTCGTGTCAAA	0.512																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2896-2898)aCc>aTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							76.0	78.0	77.0					3																	183669276		1913	4150	6063	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183669276G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2897C>T	3.37:g.183669276G>A	ENSP00000333926:p.Thr966Ile					ABCC5_ENST00000265586.6_Missense_Mutation_p.T966I	p.T966I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		20	3137	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		966			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.2897C>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030475	0.75504	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.90133	-2.62;-2.62	6.11	5.22	0.72569	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.093893	0.64402	D	0.000001	D	0.96880	0.8981	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.983	D	0.97578	1.0109	10	0.49607	T	0.09	-33.6669	16.7376	0.85451	0.0:0.0:0.8696:0.1304	.	966;966	Q86UX3;O15440	.;MRP5_HUMAN	I	966	ENSP00000333926:T966I;ENSP00000265586:T966I	ENSP00000265586:T966I	T	-	2	0	ABCC5	185151970	1.000000	0.71417	0.982000	0.44146	0.646000	0.38490	9.603000	0.98315	1.560000	0.49568	0.655000	0.94253	ACC		0.512	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		5	93	0	0	0	1	0	5	93				
PPP1R17	10842	broad.mit.edu	37	7	31746867	31746867	+	Silent	SNP	C	C	T	rs144020989		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:31746867C>T	ENST00000342032.3	+	5	1066	c.438C>T	c.(436-438)gaC>gaT	p.D146D	PPP1R17_ENST00000409146.3_Silent_p.D95D|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	146					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										TGGAAGATGACGAAAAGGATG	0.408																																						ENST00000342032.3																			0											c.(436-438)gaC>gaT		protein phosphatase 1, regulatory subunit 17							140.0	120.0	126.0					7																	31746867		2203	4300	6503	SO:0001819	synonymous_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31746867C>T	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.438C>T	7.37:g.31746867C>T						PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Silent_p.D95D	p.D146D	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			5	1066	+			146					B4DE58|Q9UDQ0	Silent	SNP	ENST00000342032.3	37	c.438C>T	CCDS5436.1																																																																																				0.408	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		5	29	0	0	0	1	0	5	29				
BACH2	60468	broad.mit.edu	37	6	90661075	90661075	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:90661075G>A	ENST00000257749.4	-	7	1457	c.750C>T	c.(748-750)acC>acT	p.T250T	BACH2_ENST00000343122.3_Silent_p.T250T|BACH2_ENST00000537989.1_Silent_p.T250T|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	250						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAAAACCTGAGGTACTGTGTG	0.493																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(748-750)acC>acT		BTB and CNC homology 1, basic leucine zipper transcription factor 2							162.0	151.0	154.0					6																	90661075		2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90661075G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.750C>T	6.37:g.90661075G>A						BACH2_ENST00000537989.1_Silent_p.T250T|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.T250T|RP3-512E2.2_ENST00000445838.1_RNA	p.T250T	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1457	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	250					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.750C>T	CCDS5026.1																																																																																				0.493	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		4	119	0	0	0	1	0	4	119				
CHD5	26038	broad.mit.edu	37	1	6228311	6228311	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:6228311A>T	ENST00000262450.3	-	2	205	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAGTCATCGAAGGCTTCAAGA	0.498																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(106-108)Ttc>Atc		chromodomain helicase DNA binding protein 5							151.0	154.0	153.0					1																	6228311		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6228311A>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.106T>A	1.37:g.6228311A>T	ENSP00000262450:p.Phe36Ile					CHD5_ENST00000378021.1_5'UTR	p.F36I	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	2	205	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	36					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.106T>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126780	0.37533	.	.	ENSG00000116254	ENST00000262450	D	0.90069	-2.61	5.09	3.95	0.45737	.	0.131002	0.29438	U	0.012150	T	0.81034	0.4739	L	0.40543	1.245	0.44110	D	0.996886	B	0.15930	0.015	B	0.12156	0.007	T	0.73173	-0.4066	10	0.22109	T	0.4	-23.4221	6.4279	0.21780	0.8459:0.0:0.1541:0.0	.	36	Q8TDI0	CHD5_HUMAN	I	36	ENSP00000262450:F36I	ENSP00000262450:F36I	F	-	1	0	CHD5	6150898	0.990000	0.36364	0.302000	0.25058	0.495000	0.33615	2.651000	0.46674	1.902000	0.55061	0.260000	0.18958	TTC		0.498	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		6	217	0	0	0	1	0	6	217				
GNPTAB	79158	broad.mit.edu	37	12	102151047	102151047	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:102151047A>T	ENST00000299314.7	-	18	3639	c.3377T>A	c.(3376-3378)aTt>aAt	p.I1126N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1126					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GTTGGTACGAATCATTTTAAA	0.274																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3376-3378)aTt>aAt		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							76.0	73.0	74.0					12																	102151047		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102151047A>T	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3377T>A	12.37:g.102151047A>T	ENSP00000299314:p.Ile1126Asn						p.I1126N	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			18	3639	-			1126					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.3377T>A	CCDS9088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.772547|4.772547	0.90108|0.90108	.|.	.|.	ENSG00000111670|ENSG00000111670	ENST00000550718|ENST00000299314	.|D	.|0.82526	.|-1.62	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.056869	.|0.64402	.|D	.|0.000001	D|D	0.89536|0.89536	0.6743|0.6743	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.60541	.|0.876	D|D	0.90532|0.90532	0.4496|0.4496	5|10	.|0.87932	.|D	.|0	-25.982|-25.982	16.6154|16.6154	0.84909|0.84909	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1126	.|Q3T906	.|GNPTA_HUMAN	E|N	63|1126	.|ENSP00000299314:I1126N	.|ENSP00000299314:I1126N	D|I	-|-	3|2	2|0	GNPTAB|GNPTAB	100675178|100675178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.927000|8.927000	0.92846|0.92846	2.315000|2.315000	0.78130|0.78130	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.274	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			4	37	0	0	0	1	0	4	37				
MUC16	94025	broad.mit.edu	37	19	9086744	9086744	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:9086744T>A	ENST00000397910.4	-	1	5274	c.5071A>T	c.(5071-5073)Aga>Tga	p.R1691*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1691	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATGCTTCTTCCTGGAGCA	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5071-5073)Aga>Tga		mucin 16, cell surface associated							131.0	123.0	126.0					19																	9086744		1964	4169	6133	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086744T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5071A>T	19.37:g.9086744T>A	ENSP00000381008:p.Arg1691*						p.R1691*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5274	-			1691			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.5071A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	44	10.943031	0.99492	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.18	-2.35	0.06684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.8326	0.05505	0.0:0.3383:0.2525:0.4092	.	.	.	.	X	1691	.	ENSP00000381008:R1691X	R	-	1	2	MUC16	8947744	0.009000	0.17119	0.000000	0.03702	0.092000	0.18411	0.478000	0.22212	-1.247000	0.02507	0.260000	0.18958	AGA		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	119	0	0	0	1	0	5	119				
WSCD2	9671	broad.mit.edu	37	12	108603946	108603946	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:108603946C>T	ENST00000332082.4	+	5	1364	c.546C>T	c.(544-546)ggC>ggT	p.G182G	WSCD2_ENST00000261400.3_Silent_p.G182G|WSCD2_ENST00000549903.1_Silent_p.G182G|WSCD2_ENST00000547525.1_Silent_p.G182G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTACTGCGGCCACAAGATCC	0.667																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(544-546)ggC>ggT		WSC domain containing 2																																				SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108603946C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.546C>T	12.37:g.108603946C>T						WSCD2_ENST00000261400.3_Silent_p.G182G|WSCD2_ENST00000547525.1_Silent_p.G182G|WSCD2_ENST00000549903.1_Silent_p.G182G	p.G182G			Q2TBF2	WSCD2_HUMAN			5	1364	+			182			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.546C>T	CCDS41828.1																																																																																				0.667	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		4	53	0	0	0	1	0	4	53				
RAD51AP2	729475	broad.mit.edu	37	2	17696504	17696504	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:17696504T>C	ENST00000399080.2	-	1	3202	c.3179A>G	c.(3178-3180)gAa>gGa	p.E1060G		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1060										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTAGGAACTTCCTGTTCTCC	0.348																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3178-3180)gAa>gGa		RAD51 associated protein 2							101.0	92.0	95.0					2																	17696504		1826	4078	5904	SO:0001583	missense	729475							g.chr2:17696504T>C	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3179A>G	2.37:g.17696504T>C	ENSP00000382030:p.Glu1060Gly						p.E1060G	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	3202	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1060						Missense_Mutation	SNP	ENST00000399080.2	37	c.3179A>G	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502203	0.64298	.	.	ENSG00000214842	ENST00000399080	T	0.27557	1.66	5.3	1.46	0.22682	.	.	.	.	.	T	0.20455	0.0492	L	0.27053	0.805	0.23376	N	0.997801	B	0.32382	0.368	B	0.32677	0.15	T	0.16928	-1.0386	9	0.52906	T	0.07	-0.1928	7.331	0.26582	0.0:0.0733:0.2843:0.6424	.	1060	Q09MP3	R51A2_HUMAN	G	1060	ENSP00000382030:E1060G	ENSP00000382030:E1060G	E	-	2	0	RAD51AP2	17559985	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	2.237000	0.43061	0.071000	0.16664	-0.250000	0.11733	GAA		0.348	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		3	16	0	0	0	1	0	3	16				
TMEM71	137835	broad.mit.edu	37	8	133740185	133740185	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:133740185T>C	ENST00000356838.3	-	6	620	c.478A>G	c.(478-480)Aag>Gag	p.K160E	TMEM71_ENST00000523829.1_Missense_Mutation_p.K179E|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	179						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCATTCATCTTCCCTGACTCC	0.488																																						ENST00000356838.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(478-480)Aag>Gag		transmembrane protein 71							110.0	104.0	106.0					8																	133740185		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133740185T>C	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.478A>G	8.37:g.133740185T>C	ENSP00000349296:p.Lys160Glu					TMEM71_ENST00000523829.1_Missense_Mutation_p.K179E|TMEM71_ENST00000377901.4_Intron	p.K160E	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		6	620	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		179					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.478A>G	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237555	0.58886	.	.	ENSG00000165071	ENST00000523829;ENST00000356838	.	.	.	6.02	-7.83	0.01201	.	1.099230	0.06816	N	0.791291	T	0.38268	0.1034	M	0.65975	2.015	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.13407	0.009;0.009	T	0.27226	-1.0080	9	0.16420	T	0.52	0.3228	9.4074	0.38471	0.0:0.4631:0.348:0.1889	.	179;160	Q6P5X7;Q6P5X7-2	TMM71_HUMAN;.	E	179;160	.	ENSP00000349296:K160E	K	-	1	0	TMEM71	133809367	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.653000	0.05360	-1.539000	0.01732	-0.250000	0.11733	AAG		0.488	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		8	109	0	0	0	1	0	8	109				
WSCD2	9671	broad.mit.edu	37	12	108603945	108603945	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:108603945G>T	ENST00000332082.4	+	5	1363	c.545G>T	c.(544-546)gGc>gTc	p.G182V	WSCD2_ENST00000261400.3_Missense_Mutation_p.G182V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G182V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G182V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCTACTGCGGCCACAAGATC	0.672																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(544-546)gGc>gTc		WSC domain containing 2							33.0	38.0	36.0					12																	108603945		2197	4286	6483	SO:0001583	missense	9671					integral to membrane		g.chr12:108603945G>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.545G>T	12.37:g.108603945G>T	ENSP00000331933:p.Gly182Val					WSCD2_ENST00000261400.3_Missense_Mutation_p.G182V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G182V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G182V	p.G182V			Q2TBF2	WSCD2_HUMAN			5	1363	+			182			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.545G>T	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800272	0.90538	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.22	5.22	0.72569	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.87107	0.6095	H	0.99197	4.465	0.80722	D	1	D	0.55385	0.971	P	0.60949	0.881	D	0.92680	0.6157	10	0.87932	D	0	-39.4008	17.3431	0.87303	0.0:0.0:1.0:0.0	.	182	Q2TBF2	WSCD2_HUMAN	V	182;182;29;182;182	ENSP00000448047:G182V;ENSP00000261400:G182V;ENSP00000446744:G29V;ENSP00000331933:G182V;ENSP00000447272:G182V	ENSP00000261400:G182V	G	+	2	0	WSCD2	107128075	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.024000	0.93689	2.436000	0.82500	0.555000	0.69702	GGC		0.672	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		4	53	1	0	1	1	1	4	53				
CADPS	8618	broad.mit.edu	37	3	62570916	62570916	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:62570916A>G	ENST00000383710.4	-	8	1870	c.1521T>C	c.(1519-1521)gaT>gaC	p.D507D	CADPS_ENST00000357948.3_Silent_p.D507D|CADPS_ENST00000283269.9_Silent_p.D507D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	507					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGATTTTGAGATCTTGGTCGG	0.468																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1519-1521)gaT>gaC		Ca++-dependent secretion activator							215.0	203.0	207.0					3																	62570916		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62570916A>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1521T>C	3.37:g.62570916A>G						CADPS_ENST00000283269.9_Silent_p.D507D|CADPS_ENST00000357948.3_Silent_p.D507D	p.D507D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	8	1870	-		Lung SC(41;0.0452)	507					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.1521T>C	CCDS46858.1																																																																																				0.468	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		6	119	0	0	0	1	0	6	119				
FAN1	22909	broad.mit.edu	37	15	31196925	31196925	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:31196925G>T	ENST00000362065.4	+	2	350	c.59G>T	c.(58-60)aGc>aTc	p.S20I	FAN1_ENST00000561594.1_Missense_Mutation_p.S20I|FAN1_ENST00000565466.1_Missense_Mutation_p.S20I|FAN1_ENST00000561607.1_Missense_Mutation_p.S20I	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	20					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TTATCAATCAGCAAGAATAAG	0.388								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(58-60)aGc>aTc	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							73.0	80.0	77.0					15																	31196925		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196925G>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.59G>T	15.37:g.31196925G>T	ENSP00000354497:p.Ser20Ile					FAN1_ENST00000561607.1_Missense_Mutation_p.S20I|FAN1_ENST00000565466.1_Missense_Mutation_p.S20I|FAN1_ENST00000561594.1_Missense_Mutation_p.S20I	p.S20I	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	350	+			20					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.59G>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	g	23.1	4.375557	0.82682	.	.	ENSG00000198690	ENST00000362065	D	0.87179	-2.22	5.28	0.0201	0.14123	.	0.486738	0.24160	N	0.040985	D	0.88392	0.6424	M	0.61703	1.905	0.09310	N	0.999999	D;D	0.76494	0.966;0.999	P;D	0.65010	0.691;0.931	T	0.78486	-0.2185	10	0.66056	D	0.02	-3.5	3.8585	0.08985	0.2916:0.0:0.4468:0.2616	.	20;20	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	I	20	ENSP00000354497:S20I	ENSP00000354497:S20I	S	+	2	0	FAN1	28984217	0.879000	0.30193	0.002000	0.10522	0.930000	0.56654	0.771000	0.26633	0.040000	0.15660	0.555000	0.69702	AGC		0.388	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		4	67	1	0	0.00909568	1	0.0094186	4	67				
LILRB2	10288	broad.mit.edu	37	19	54778668	54778668	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:54778668C>A	ENST00000391749.4	-	14	1937	c.1666G>T	c.(1666-1668)Gcc>Tcc	p.A556S	LILRB2_ENST00000314446.5_Missense_Mutation_p.A555S|LILRB2_ENST00000391748.1_Missense_Mutation_p.A555S|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Missense_Mutation_p.A440S	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	556					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTGGGGGGCTTCAGATGCA	0.637																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1663-1665)Gcc>Tcc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							66.0	67.0	67.0					19																	54778668		2203	4297	6500	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54778668C>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1666G>T	19.37:g.54778668C>A	ENSP00000375629:p.Ala556Ser					LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.A555S|LILRB2_ENST00000391749.4_Missense_Mutation_p.A556S|LILRB2_ENST00000434421.1_Missense_Mutation_p.A440S	p.A555S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1790	-	Ovarian(34;0.19)		556					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1663G>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	1.495	-0.553524	0.03996	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00505	7.02;7.02;7.02;6.93	1.31	0.197	0.15164	.	.	.	.	.	T	0.00300	0.0009	L	0.33245	0.995	0.09310	N	1	P;B	0.41420	0.749;0.209	B;B	0.32980	0.156;0.058	T	0.45131	-0.9282	9	0.31617	T	0.26	.	4.0529	0.09803	0.0:0.7576:0.0:0.2424	.	572;556	E7EVY1;Q8N423	.;LIRB2_HUMAN	S	555;555;556;440	ENSP00000375628:A555S;ENSP00000319960:A555S;ENSP00000375629:A556S;ENSP00000410117:A440S	ENSP00000319960:A555S	A	-	1	0	LILRB2	59470480	0.001000	0.12720	0.009000	0.14445	0.139000	0.21198	1.191000	0.32138	0.133000	0.18654	-0.734000	0.03567	GCC		0.637	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			4	81	1	0	0.00024832	1	0.000275038	4	81				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	129	0	0	0	1	0	5	129				
GLDC	2731	broad.mit.edu	37	9	6554725	6554725	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:6554725G>T	ENST00000321612.6	-	19	2409	c.2259C>A	c.(2257-2259)caC>caA	p.H753Q		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	753					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AGAAGGTCTTGTGAAGATTTA	0.542																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2257-2259)caC>caA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						63.0	54.0	57.0					9																	6554725		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6554725G>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2259C>A	9.37:g.6554725G>T	ENSP00000370737:p.His753Gln						p.H753Q	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	19	2409	-		Acute lymphoblastic leukemia(23;0.161)	753					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2259C>A	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482427	0.84747	.	.	ENSG00000178445	ENST00000321612	D	0.98862	-5.19	5.37	4.46	0.54185	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97593	1.0118	10	0.87932	D	0	-21.5165	14.2315	0.65895	0.0724:0.0:0.9276:0.0	.	753	P23378	GCSP_HUMAN	Q	753	ENSP00000370737:H753Q	ENSP00000370737:H753Q	H	-	3	2	GLDC	6544725	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.824000	0.55723	1.390000	0.46547	0.462000	0.41574	CAC		0.542	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		3	23	1	0	0.00909568	1	0.0094186	3	23				
MTHFD1L	25902	broad.mit.edu	37	6	151243383	151243383	+	Missense_Mutation	SNP	C	C	T	rs567950016		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:151243383C>T	ENST00000367321.3	+	10	1301	c.1027C>T	c.(1027-1029)Cac>Tac	p.H343Y		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	343	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGAACAGCAGCACAGGCGGTG	0.493																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1027-1029)Cac>Tac		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							240.0	191.0	207.0					6																	151243383		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151243383C>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1027C>T	6.37:g.151243383C>T	ENSP00000356290:p.His343Tyr						p.H343Y	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	10	1301	+		Ovarian(120;0.128)	343			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.1027C>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	6.220	0.408823	0.11812	.	.	ENSG00000120254	ENST00000367321;ENST00000441122	T;T	0.41758	2.8;0.99	5.26	-2.38	0.06622	.	0.331135	0.37219	N	0.002198	T	0.03651	0.0104	N	0.00413	-1.525	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31943	-0.9925	10	0.42905	T	0.14	.	7.5191	0.27618	0.0:0.3141:0.1127:0.5732	.	344;98;343	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	Y	343;14	ENSP00000356290:H343Y;ENSP00000407070:H14Y	ENSP00000356290:H343Y	H	+	1	0	MTHFD1L	151285076	0.997000	0.39634	0.309000	0.25155	0.955000	0.61496	0.600000	0.24104	-0.414000	0.07495	0.650000	0.86243	CAC		0.493	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		25	61	0	0	0	1	0	25	61				
TECTA	7007	broad.mit.edu	37	11	120996041	120996041	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:120996041A>T	ENST00000392793.1	+	8	1505	c.1234A>T	c.(1234-1236)Acc>Tcc	p.T412S	TECTA_ENST00000264037.2_Missense_Mutation_p.T412S			O75443	TECTA_HUMAN	tectorin alpha	412	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTGCCTGTCACCTTAGACTT	0.498																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(1234-1236)Acc>Tcc		tectorin alpha							150.0	152.0	151.0					11																	120996041		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996041A>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1234A>T	11.37:g.120996041A>T	ENSP00000376543:p.Thr412Ser					TECTA_ENST00000264037.2_Missense_Mutation_p.T412S	p.T412S			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1505	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	412			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1234A>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	1.151	-0.646786	0.03506	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.57907	0.37;0.37	4.58	3.45	0.39498	von Willebrand factor, type D domain (3);	0.531523	0.20885	N	0.083934	T	0.18257	0.0438	N	0.02266	-0.62	0.22629	N	0.998913	B	0.02656	0.0	B	0.01281	0.0	T	0.33574	-0.9863	10	0.02654	T	1	.	3.9985	0.09569	0.6617:0.0:0.1616:0.1767	.	412	O75443	TECTA_HUMAN	S	412	ENSP00000376543:T412S;ENSP00000264037:T412S	ENSP00000264037:T412S	T	+	1	0	TECTA	120501251	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.723000	0.38053	1.850000	0.53721	0.379000	0.24179	ACC		0.498	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		9	221	0	0	0	1	0	9	221				
NALCN	259232	broad.mit.edu	37	13	101759839	101759839	+	Splice_Site	SNP	C	C	T	rs369137916		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:101759839C>T	ENST00000251127.6	-	22	2659	c.2578G>A	c.(2578-2580)Gca>Aca	p.A860T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	860					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTACTTACGCGTTGAAGCGT	0.502																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.e22+1		sodium leak channel, non-selective		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	106.0	93.0	97.0		2578	5.6	1.0	13		97	0,8600		0,0,4300	no	missense-near-splice	NALCN	NM_052867.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	860/1739	101759839	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101759839C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2579+1G>A	13.37:g.101759839C>T							p.A860_splice	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			22	2659	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		860					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Splice_Site	SNP	ENST00000251127.6	37	c.2579_splice	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247967	0.59103	2.27E-4	0.0	ENSG00000102452	ENST00000251127	D	0.97665	-4.48	5.61	5.61	0.85477	.	0.053024	0.85682	D	0.000000	D	0.95519	0.8544	L	0.54323	1.7	0.80722	D	1	B	0.21520	0.057	B	0.17433	0.018	D	0.92853	0.6299	10	0.25106	T	0.35	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	860	Q8IZF0	NALCN_HUMAN	T	860	ENSP00000251127:A860T	ENSP00000251127:A860T	A	-	1	0	NALCN	100557840	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.916000	0.69981	2.630000	0.89119	0.650000	0.86243	GCA		0.502	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	Missense_Mutation	8	63	0	0	0	1	0	8	63				
MORC1	27136	broad.mit.edu	37	3	108754263	108754263	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:108754263G>A	ENST00000483760.1	-	15	1426	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	MORC1_ENST00000232603.5_Silent_p.I461I					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCTCCACATCGATGTCATTCT	0.289																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1381-1383)atC>atT		MORC family CW-type zinc finger 1							95.0	91.0	92.0					3																	108754263		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108754263G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1383C>T	3.37:g.108754263G>A						MORC1_ENST00000483760.1_Silent_p.I461I	p.I461I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			15	1465	-			461						Silent	SNP	ENST00000483760.1	37	c.1383C>T																																																																																					0.289	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			6	22	0	0	0	1	0	6	22				
KMT2D	8085	broad.mit.edu	37	12	49433964	49433964	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:49433964G>A	ENST00000301067.7	-	31	7588	c.7589C>T	c.(7588-7590)aCc>aTc	p.T2530I	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2530	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)										GGGAGAGGGGGTGCCCACAAA	0.657																																						ENST00000301067.7																			0											c.(7588-7590)aCc>aTc		lysine (K)-specific methyltransferase 2D							21.0	23.0	23.0					12																	49433964		1922	4114	6036	SO:0001583	missense	8085							g.chr12:49433964G>A	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.7589C>T	12.37:g.49433964G>A	ENSP00000301067:p.Thr2530Ile						p.T2530I	NM_003482.3	NP_003473.3					31	7588	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.7589C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	8.583	0.882783	0.17467	.	.	ENSG00000167548	ENST00000301067	T	0.79653	-1.29	5.21	2.17	0.27698	.	0.198245	0.25294	N	0.031717	T	0.64789	0.2630	N	0.19112	0.55	0.22851	N	0.99865	B	0.29805	0.257	B	0.20577	0.03	T	0.62647	-0.6810	10	0.87932	D	0	.	11.1322	0.48354	0.0:0.2494:0.623:0.1276	.	2530	O14686	MLL2_HUMAN	I	2530	ENSP00000301067:T2530I	ENSP00000301067:T2530I	T	-	2	0	MLL2	47720231	0.804000	0.28969	0.998000	0.56505	0.985000	0.73830	1.169000	0.31871	1.308000	0.44962	0.591000	0.81541	ACC		0.657	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	37	0	0	0	1	0	4	37				
SCN1A	6323	broad.mit.edu	37	2	166848422	166848422	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:166848422T>A	ENST00000303395.4	-	26	5362	c.5363A>T	c.(5362-5364)aAc>aTc	p.N1788I	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.N1788I|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1777I|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1760I|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1788					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACACTGAAGTTCTCCAGGAT	0.448																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5362-5364)aAc>aTc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						108.0	106.0	107.0					2																	166848422		2202	4281	6483	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848422T>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5363A>T	2.37:g.166848422T>A	ENSP00000303540:p.Asn1788Ile					SCN1A_ENST00000303395.4_Missense_Mutation_p.N1788I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1760I|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1777I	p.N1788I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5380	-			1788					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5363A>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190527	0.78789	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000002	D	0.98735	0.9575	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	15.9572	0.79896	0.0:0.0:0.0:1.0	.	1777	P35498-2	.	I	1788;1788;1777;1760	ENSP00000407030:N1788I;ENSP00000303540:N1788I;ENSP00000364554:N1777I;ENSP00000386312:N1760I	ENSP00000303540:N1788I	N	-	2	0	SCN1A	166556668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.938000	0.87678	2.161000	0.67846	0.528000	0.53228	AAC		0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	161	0	0	0	1	0	6	161				
ZBTB9	221504	broad.mit.edu	37	6	33423613	33423613	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:33423613C>T	ENST00000395064.2	+	2	1004	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	246	Pro-rich.				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)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGTTTTTCCCCGTCCTCATGG	0.582																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(736-738)Cgt>Tgt		zinc finger and BTB domain containing 9							61.0	62.0	62.0					6																	33423613		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423613C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.736C>T	6.37:g.33423613C>T	ENSP00000378503:p.Arg246Cys						p.R246C	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	1004	+			246			Pro-rich.		A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.736C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	0.596	-0.830851	0.02713	.	.	ENSG00000213588	ENST00000395064	T	0.06142	3.34	5.4	2.63	0.31362	.	3.975350	0.01217	N	0.007998	T	0.01387	0.0045	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42413	-0.9453	10	0.54805	T	0.06	.	4.1908	0.10419	0.3234:0.5074:0.0:0.1692	.	246	Q96C00	ZBTB9_HUMAN	C	246	ENSP00000378503:R246C	ENSP00000378503:R246C	R	+	1	0	ZBTB9	33531591	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	0.375000	0.20518	0.395000	0.25257	0.655000	0.94253	CGT		0.582	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		12	60	0	0	0	1	0	12	60				
SLC17A9	63910	broad.mit.edu	37	20	61596500	61596500	+	Silent	SNP	G	G	C	rs370727216		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:61596500G>C	ENST00000370351.4	+	9	1058	c.927G>C	c.(925-927)acG>acC	p.T309T	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Silent_p.T303T	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	309					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						GAGCCATCACGGTGCGGAAGC	0.587																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(907-909)acG>acC		solute carrier family 17 (vesicular nucleotide transporter), member 9							87.0	92.0	90.0					20																	61596500		1963	4142	6105	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61596500G>C	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.927G>C	20.37:g.61596500G>C						SLC17A9_ENST00000370351.4_Silent_p.T309T|SLC17A9_ENST00000488738.1_3'UTR	p.T303T			Q9BYT1	S17A9_HUMAN			10	1113	+			309					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.909G>C	CCDS42901.1																																																																																				0.587	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		4	68	0	0	0	1	0	4	68				
COLEC11	78989	broad.mit.edu	37	2	3691606	3691606	+	Silent	SNP	C	C	T	rs565076370	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:3691606C>T	ENST00000349077.4	+	7	817	c.714C>T	c.(712-714)gaC>gaT	p.D238D	COLEC11_ENST00000402794.1_Silent_p.D188D|COLEC11_ENST00000403096.3_Silent_p.D212D|COLEC11_ENST00000382062.2_Silent_p.D214D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Silent_p.D188D|COLEC11_ENST00000418971.2_Silent_p.D252D|COLEC11_ENST00000404205.1_Silent_p.D164D|COLEC11_ENST00000236693.7_Silent_p.D235D	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	238	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ATGCCTACGACGAGGAGGACT	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		18865	0.0		0.0	False		,,,				2504	0.002					ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(634-636)gaC>gaT		collectin sub-family member 11							73.0	77.0	76.0					2																	3691606		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691606C>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.714C>T	2.37:g.3691606C>T						COLEC11_ENST00000402794.1_Silent_p.D188D|COLEC11_ENST00000402922.1_Silent_p.D188D|COLEC11_ENST00000382062.2_Silent_p.D214D|COLEC11_ENST00000349077.4_Silent_p.D238D|COLEC11_ENST00000236693.7_Silent_p.D235D|COLEC11_ENST00000418971.2_Silent_p.D252D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.D164D	p.D212D	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	1127	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		238			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.636C>T	CCDS1649.1																																																																																				0.592	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		7	107	0	0	0	1	0	7	107				
TP53	7157	broad.mit.edu	37	17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:7578509A>C	ENST00000269305.4	-	5	610	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G	TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000420246.2_Missense_Mutation_p.C141G	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	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(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)	TGCACAGGGCAGGTCTTGGCC	0.567		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)	ENST00000420246.2		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"""		47	Substitution - Missense(19)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)	ovary(11)|large_intestine(7)|breast(7)|central_nervous_system(5)|bone(4)|upper_aerodigestive_tract(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|prostate(2)|biliary_tract(1)|lung(1)|oesophagus(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						c.(421-423)Tgc>Ggc	Other conserved DNA damage response genes	tumor protein p53							56.0	55.0	56.0					17																	7578509		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578509A>C	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.421T>G	17.37:g.7578509A>C	ENSP00000269305:p.Cys141Gly	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_ENST00000269305.4_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000445888.2_Missense_Mutation_p.C141G	p.C141G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	553	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.421T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246323	0.39697	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	5.48	4.41	0.53225	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99746	0.9899	M	0.90309	3.105	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.997;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.992;0.99;1.0;0.996;1.0;1.0	D	0.97919	1.0313	10	0.87932	D	0	-26.1094	9.8103	0.40820	0.918:0.0:0.082:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141G;ENSP00000352610:C141G;ENSP00000269305:C141G;ENSP00000398846:C141G;ENSP00000391127:C141G;ENSP00000391478:C141G;ENSP00000425104:C9G;ENSP00000423862:C48G;ENSP00000424104:C141G	ENSP00000269305:C141G	C	-	1	0	TP53	7519234	1.000000	0.71417	0.996000	0.52242	0.026000	0.11368	5.164000	0.64954	1.020000	0.39573	-0.256000	0.11100	TGC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	31	0	0	0	1	0	13	31				
GSDMB	55876	broad.mit.edu	37	17	38062397	38062397	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:38062397G>A	ENST00000394179.1	-	7	970	c.840C>T	c.(838-840)ggC>ggT	p.G280G	GSDMB_ENST00000394175.2_Silent_p.G263G|GSDMB_ENST00000360317.3_Silent_p.G285G|GSDMB_ENST00000309481.7_Silent_p.G272G|GSDMB_ENST00000520542.1_Silent_p.G276G|GSDMB_ENST00000418519.1_Silent_p.G285G			Q8TAX9	GSDMB_HUMAN	gasdermin B	280						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TATCCTCCTTGCCGAGGCACT	0.517																																						ENST00000394175.2																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(787-789)ggC>ggT		gasdermin B							170.0	138.0	149.0					17																	38062397		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38062397G>A	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.840C>T	17.37:g.38062397G>A						GSDMB_ENST00000309481.7_Silent_p.G272G|GSDMB_ENST00000360317.3_Silent_p.G285G|GSDMB_ENST00000418519.1_Silent_p.G285G|GSDMB_ENST00000394179.1_Silent_p.G280G|GSDMB_ENST00000520542.1_Silent_p.G276G	p.G263G	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			5	1012	-			280					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.789C>T		.	.	.	.	.	.	.	.	.	.	G	3.463	-0.109607	0.06924	.	.	ENSG00000073605	ENST00000420491	.	.	.	4.54	0.757	0.18427	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	.	2.8555	0.05571	0.2797:0.0:0.5122:0.2082	.	.	.	.	V	217	.	.	A	-	2	0	GSDMB	35315923	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.213000	0.09305	0.461000	0.27071	0.609000	0.83330	GCA		0.517	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		10	73	0	0	0	1	0	10	73				
MKS1	54903	broad.mit.edu	37	17	56285908	56285908	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:56285908A>C	ENST00000393119.2	-	12	1135	c.1061T>G	c.(1060-1062)gTa>gGa	p.V354G	MKS1_ENST00000546108.1_Missense_Mutation_p.V151G|MKS1_ENST00000537529.2_Missense_Mutation_p.V344G|MKS1_ENST00000313863.6_Missense_Mutation_p.V354G|MKS1_ENST00000337050.7_Missense_Mutation_p.V354G	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	354	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCTGTGTTACTCCTGAGAG	0.498																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1060-1062)gTa>gGa		Meckel syndrome, type 1							93.0	93.0	93.0					17																	56285908		1953	4153	6106	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56285908A>C	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1061T>G	17.37:g.56285908A>C	ENSP00000376827:p.Val354Gly					MKS1_ENST00000546108.1_Missense_Mutation_p.V151G|MKS1_ENST00000313863.6_Missense_Mutation_p.V354G|MKS1_ENST00000337050.7_Missense_Mutation_p.V354G|MKS1_ENST00000537529.2_Missense_Mutation_p.V344G	p.V354G	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN			12	1135	-			354			B9.		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.1061T>G	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.043663|4.043663	0.75732|0.75732	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108|ENST00000313863	T;T;T;T|.	0.71461|.	-0.57;-0.57;-0.57;-0.57|.	5.58|5.58	4.5|4.5	0.54988|0.54988	.|.	0.404553|.	0.28230|.	N|.	0.016105|.	T|.	0.72244|.	0.3436|.	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;B|.	0.67145|.	0.996;0.445|.	D;P|.	0.67382|.	0.951;0.703|.	T|.	0.71771|.	-0.4492|.	10|.	0.87932|.	D|.	0|.	-7.8|-7.8	10.5677|10.5677	0.45181|0.45181	0.9236:0.0:0.0764:0.0|0.9236:0.0:0.0764:0.0	.|.	354;354|.	A8MPP8;Q9NXB0|.	.;MKS1_HUMAN|.	G|E	344;354;354;354;151|355	ENSP00000442096:V344G;ENSP00000376827:V354G;ENSP00000338407:V354G;ENSP00000443012:V151G|.	ENSP00000338407:V354G|.	V|X	-|-	2|1	0|0	MKS1|MKS1	53640907|53640907	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.919000|0.919000	0.55068|0.55068	8.535000|8.535000	0.90623|0.90623	0.936000|0.936000	0.37367|0.37367	0.454000|0.454000	0.30748|0.30748	GTA|TAA		0.498	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		19	35	0	0	0	1	0	19	35				
CD83	9308	broad.mit.edu	37	6	14131886	14131886	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:14131886A>C	ENST00000379153.3	+	3	460	c.289A>C	c.(289-291)Act>Cct	p.T97P		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	97	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GATCCGAAACACTACCAGCTG	0.542																																						ENST00000379153.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12						c.(289-291)Act>Cct		CD83 molecule							147.0	135.0	139.0					6																	14131886		2203	4300	6503	SO:0001583	missense	9308				defense response|humoral immune response|signal transduction	integral to plasma membrane		g.chr6:14131886A>C	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.289A>C	6.37:g.14131886A>C	ENSP00000368450:p.Thr97Pro						p.T97P	NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN			3	460	+	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)	97			Ig-like V-type.		Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	c.289A>C	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401649	0.42613	.	.	ENSG00000112149	ENST00000379153	T	0.65549	-0.16	5.61	3.21	0.36854	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.642064	0.16115	N	0.228895	T	0.60470	0.2271	M	0.61703	1.905	0.32720	N	0.510448	D	0.63046	0.992	D	0.64877	0.93	T	0.60762	-0.7199	10	0.62326	D	0.03	-5.1042	7.2041	0.25897	0.8232:0.0:0.1768:0.0	.	97	Q01151	CD83_HUMAN	P	97	ENSP00000368450:T97P	ENSP00000368450:T97P	T	+	1	0	CD83	14239865	0.894000	0.30519	0.991000	0.47740	0.154000	0.21943	0.767000	0.26575	0.504000	0.28082	0.533000	0.62120	ACT		0.542	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			7	122	0	0	0	1	0	7	122				
NAV2	89797	broad.mit.edu	37	11	20099637	20099637	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:20099637G>T	ENST00000396087.3	+	26	5433	c.5334G>T	c.(5332-5334)gaG>gaT	p.E1778D	NAV2_ENST00000540292.1_Missense_Mutation_p.E1709D|NAV2_ENST00000311043.8_Missense_Mutation_p.E786D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1722D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1658D|NAV2_ENST00000533917.1_Missense_Mutation_p.E786D|NAV2_ENST00000396085.1_Missense_Mutation_p.E1722D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1707D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1778					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACACACCTGAGCTCAACTGCA	0.473																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(5164-5166)gaG>gaT		neuron navigator 2							51.0	45.0	47.0					11																	20099637		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20099637G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5334G>T	11.37:g.20099637G>T	ENSP00000379396:p.Glu1778Asp					NAV2_ENST00000396087.3_Missense_Mutation_p.E1778D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1658D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1722D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1707D|NAV2_ENST00000311043.8_Missense_Mutation_p.E786D|NAV2_ENST00000533917.1_Missense_Mutation_p.E786D|NAV2_ENST00000540292.1_Missense_Mutation_p.E1709D	p.E1722D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			24	5527	+			1778					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5166G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849017	0.32699	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	6.17	5.26	0.73747	.	0.000000	0.64402	D	0.000002	D	0.91912	0.7439	N	0.10760	0.04	0.80722	D	1	B;D;D;D;B;P	0.69078	0.022;0.997;0.99;0.997;0.013;0.875	B;P;P;D;B;P	0.77557	0.037;0.868;0.789;0.99;0.025;0.716	D	0.91528	0.5240	9	.	.	.	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	1722;1778;786;771;1722;1658	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	D	1658;1722;1722;1778;1707;1709;786;771;786;771	ENSP00000353871:E1658D;ENSP00000379394:E1722D;ENSP00000309577:E1722D;ENSP00000379396:E1778D;ENSP00000435395:E1707D;ENSP00000443489:E1709D;ENSP00000437316:E786D;ENSP00000437136:E771D;ENSP00000312169:E786D	.	E	+	3	2	NAV2	20056213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.027000	0.41078	1.620000	0.50308	0.655000	0.94253	GAG		0.473	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		3	35	1	0	6.4e-05	1	7.17949e-05	3	35				
GPR98	84059	broad.mit.edu	37	5	89933655	89933655	+	Silent	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:89933655T>C	ENST00000405460.2	+	11	2226	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	710	Calx-beta 5. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGGCCCCTTTAATGGCTCTG	0.423																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2128-2130)ttT>ttC		G protein-coupled receptor 98							81.0	75.0	77.0					5																	89933655		1830	4085	5915	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89933655T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2130T>C	5.37:g.89933655T>C							p.F710F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	11	2226	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	710			Calx-beta 5.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.2130T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.399449	0.25291	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.46	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9505	0.35785	0.0:0.2143:0.0:0.7857	.	.	.	.	Q	299	.	.	X	+	1	0	GPR98	89969411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.775000	0.26689	0.351000	0.24027	0.528000	0.53228	TAA		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	41	0	0	0	1	0	4	41				
HIST1H2BE	8344	broad.mit.edu	37	6	26184078	26184078	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:26184078G>A	ENST00000356530.3	+	1	121	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	19					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CAAGAAGGCCGTGACCAAGGC	0.547																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(55-57)Gtg>Atg		histone cluster 1, H2be							117.0	109.0	112.0					6																	26184078		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184078G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.55G>A	6.37:g.26184078G>A	ENSP00000348924:p.Val19Met						p.V19M	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	121	+			19					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.55G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	13.60	2.285353	0.40394	.	.	ENSG00000197697	ENST00000356530	T	0.21932	1.98	5.08	4.21	0.49690	.	0.000000	0.31134	U	0.008195	T	0.25419	0.0618	.	.	.	0.40762	D	0.983012	.	.	.	.	.	.	T	0.02581	-1.1138	7	0.59425	D	0.04	.	12.9064	0.58154	0.0791:0.0:0.9209:0.0	.	.	.	.	M	19	ENSP00000348924:V19M	ENSP00000348924:V19M	V	+	1	0	HIST1H2BE	26292057	1.000000	0.71417	0.976000	0.42696	0.125000	0.20455	7.577000	0.82486	1.280000	0.44463	-0.199000	0.12753	GTG		0.547	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		4	150	0	0	0	1	0	4	150				
FBN1	2200	broad.mit.edu	37	15	48780649	48780649	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:48780649C>T	ENST00000316623.5	-	26	3579	c.3124G>A	c.(3124-3126)Ggc>Agc	p.G1042S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1042	EGF-like 15; calcium-binding. {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)		CTGCACTTGCCGTGGGTGCAG	0.458																																						ENST00000316623.5																			0				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	GRCh37	CM085409	FBN1	M		c.(3124-3126)Ggc>Agc		fibrillin 1							94.0	89.0	91.0					15																	48780649		2198	4296	6494	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.chr15:48780649C>T	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.3124G>A	15.37:g.48780649C>T	ENSP00000325527:p.Gly1042Ser						p.G1042S	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	26	3579	-		all_lung(180;0.00279)	1042			EGF-like 15; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3124G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.730736	0.96856	.	.	ENSG00000166147	ENST00000316623	D	0.91996	-2.95	6.17	6.17	0.99709	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95183	0.8301	10	0.49607	T	0.09	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	1042	P35555	FBN1_HUMAN	S	1042	ENSP00000325527:G1042S	ENSP00000325527:G1042S	G	-	1	0	FBN1	46567941	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGC		0.458	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			7	84	0	0	0	1	0	7	84				
IL37	27178	broad.mit.edu	37	2	113675255	113675255	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:113675255G>A	ENST00000263326.3	+	4	351	c.309G>A	c.(307-309)gcG>gcA	p.A103A	IL37_ENST00000349806.3_Silent_p.A42A|IL37_ENST00000352179.3_Silent_p.A82A|IL37_ENST00000311328.2_Silent_p.A77A|IL37_ENST00000353225.3_Silent_p.A63A	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	103					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CAGCCTCTGCGGAGAAAGGAA	0.488																																						ENST00000263326.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						c.(307-309)gcG>gcA		interleukin 37							187.0	196.0	193.0					2																	113675255		2203	4300	6503	SO:0001819	synonymous_variant	27178				immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	g.chr2:113675255G>A	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.309G>A	2.37:g.113675255G>A						IL37_ENST00000353225.3_Silent_p.A63A|IL37_ENST00000311328.2_Silent_p.A77A|IL37_ENST00000352179.3_Silent_p.A82A|IL37_ENST00000349806.3_Silent_p.A42A	p.A103A	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN			4	351	+			103					B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Silent	SNP	ENST00000263326.3	37	c.309G>A	CCDS2103.1																																																																																				0.488	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		22	288	0	0	0	1	0	22	288				
ARC	23237	broad.mit.edu	37	8	143694473	143694473	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:143694473G>A	ENST00000356613.2	-	1	2360	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTGGCCACGGACTCGCTGTT	0.701																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(1159-1161)tCc>tTc		activity-regulated cytoskeleton-associated protein							7.0	8.0	8.0					8																	143694473		2154	4244	6398	SO:0001583	missense	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694473G>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1160C>T	8.37:g.143694473G>A	ENSP00000349022:p.Ser387Phe						p.S387F	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2360	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	387					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	c.1160C>T	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669429	0.29693	.	.	ENSG00000198576	ENST00000356613	T	0.44482	0.92	4.75	4.75	0.60458	.	0.127326	0.35466	U	0.003194	T	0.31451	0.0797	N	0.14661	0.345	0.18873	N	0.999986	D	0.54207	0.965	P	0.44811	0.461	T	0.23119	-1.0197	10	0.59425	D	0.04	.	14.9125	0.70770	0.0:0.0:1.0:0.0	.	387	Q7LC44	ARC_HUMAN	F	387	ENSP00000349022:S387F	ENSP00000349022:S387F	S	-	2	0	ARC	143691475	0.982000	0.34865	0.554000	0.28268	0.053000	0.15095	6.146000	0.71777	2.189000	0.69895	0.563000	0.77884	TCC		0.701	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			6	24	0	0	0	1	0	6	24				
ANKS1A	23294	broad.mit.edu	37	6	34985688	34985688	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:34985688G>A	ENST00000360359.3	+	11	2000	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	621					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACTCAGCCGCAGCTTGTCC	0.597																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1861-1863)cGc>cAc		ankyrin repeat and sterile alpha motif domain containing 1A							129.0	146.0	140.0					6																	34985688		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985688G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1862G>A	6.37:g.34985688G>A	ENSP00000353518:p.Arg621His					ANKS1A_ENST00000535627.1_Intron	p.R621H	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			11	2000	+			621					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1862G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388694	0.82902	.	.	ENSG00000064999	ENST00000360359	T	0.46819	0.86	5.41	5.41	0.78517	.	0.000000	0.50627	D	0.000117	T	0.61640	0.2363	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.63314	-0.6665	10	0.72032	D	0.01	-18.3484	19.5669	0.95397	0.0:0.0:1.0:0.0	.	621	Q92625	ANS1A_HUMAN	H	621	ENSP00000353518:R621H	ENSP00000353518:R621H	R	+	2	0	ANKS1A	35093666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	2.694000	0.91930	0.655000	0.94253	CGC		0.597	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		5	260	0	0	0	1	0	5	260				
LRRN3	54674	broad.mit.edu	37	7	110763905	110763905	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:110763905C>G	ENST00000422987.3	+	2	1908	c.1077C>G	c.(1075-1077)aaC>aaG	p.N359K	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N359K|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.N359K|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	359					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTCTGCCAAACCTCAAGGAAA	0.468																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1075-1077)aaC>aaG		leucine rich repeat neuronal 3							96.0	83.0	87.0					7																	110763905		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110763905C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1077C>G	7.37:g.110763905C>G	ENSP00000412417:p.Asn359Lys					IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N359K|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N359K	p.N359K	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2123	+			359					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1077C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480647	0.44044	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.56444	0.46;0.46;0.46	5.81	3.94	0.45596	.	0.082643	0.51477	D	0.000087	T	0.45054	0.1323	L	0.35542	1.07	0.50632	D	0.999882	P	0.51147	0.942	P	0.48368	0.575	T	0.27331	-1.0077	10	0.38643	T	0.18	.	8.0547	0.30598	0.0:0.6826:0.0:0.3174	.	359	Q9H3W5	LRRN3_HUMAN	K	359	ENSP00000312001:N359K;ENSP00000397312:N359K;ENSP00000412417:N359K	ENSP00000312001:N359K	N	+	3	2	LRRN3	110551141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.065000	0.41442	0.738000	0.32606	0.650000	0.86243	AAC		0.468	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		4	68	0	0	0	1	0	4	68				
PCSK2	5126	broad.mit.edu	37	20	17410083	17410083	+	Silent	SNP	C	C	T	rs114984146	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:17410083C>T	ENST00000262545.2	+	7	939	c.624C>T	c.(622-624)caC>caT	p.H208H	PCSK2_ENST00000377899.1_Silent_p.H189H|PCSK2_ENST00000536609.1_Silent_p.H173H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	208	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCCAAAGCCACGGGACCCGAT	0.438													C|||	6	0.00119808	0.0045	0.0	5008	,	,		15811	0.0		0.0	False		,,,				2504	0.0					ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(622-624)caC>caT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	,,	17,4389	25.3+/-52.1	0,17,2186	123.0	126.0	125.0		567,519,624	-11.4	0.1	20	dbSNP_132	125	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PCSK2	NM_001201528.1,NM_001201529.1,NM_002594.3	,,	0,17,6486	TT,TC,CC		0.0,0.3858,0.1307	,,	189/620,173/604,208/639	17410083	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17410083C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.624C>T	20.37:g.17410083C>T						PCSK2_ENST00000377899.1_Silent_p.H189H|PCSK2_ENST00000536609.1_Silent_p.H173H	p.H208H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			7	939	+			208			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.624C>T	CCDS13125.1																																																																																				0.438	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		6	130	0	0	0	1	0	6	130				
UGT1A4	54657	broad.mit.edu	37	2	234628298	234628309	+	In_Frame_Del	DEL	GGCATCAACTGT	GGCATCAACTGT	-			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:234628298_234628309delGGCATCAACTGT	ENST00000373409.3	+	1	875_886	c.832_843delGGCATCAACTGT	c.(832-843)ggcatcaactgtdel	p.GINC278del	UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	278					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CTTCATTGGGGGCATCAACTGTGCCAACGGGA	0.476																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(832-843)del																																						SO:0001651	inframe_deletion	0							g.chr2:234628298_234628309delGGCATCAACTGT	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.832_843delGGCATCAACTGT	2.37:g.234628298_234628309delGGCATCAACTGT	ENSP00000362508:p.Gly278_Cys281del					UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron	p.GINC278del	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	875_886	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	In_Frame_Del	DEL	ENST00000373409.3	37	c.832_843delGGCATCAACTGT	CCDS33405.1																																																																																				0.476	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		23	229						23	229	---	---	---	---
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:36810381delT	ENST00000424886.1	-	0	405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttt	0.542																																						ENST00000424886.1																			0																																																			0							g.chr3:36810381delT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810381delT														0	405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.542	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		3	4						3	4	---	---	---	---
SSMEM1	136263	broad.mit.edu	37	7	129856199	129856221	+	Frame_Shift_Del	DEL	ATGGTTGGCGCACCATTCCCGAC	ATGGTTGGCGCACCATTCCCGAC	-	rs144037821|rs374890168|rs200313957|rs201212488|rs146470357|rs140752649	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:129856199_129856221delATGGTTGGCGCACCATTCCCGAC	ENST00000297819.3	+	3	675_697	c.624_646delATGGTTGGCGCACCATTCCCGAC	c.(622-648)gaatggttggcgcaccattcccgacagfs	p.WLAHHSRQ209fs		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	209						integral component of membrane (GO:0016021)		p.R215R(1)									GAACCAACGAATGGTTGGCGCACCATTCCCGACAGAAGCCTTC	0.426																																						ENST00000297819.3																			1	Substitution - coding silent(1)	p.R215R(1)	lung(1)								c.(622-648)gaagfs		serine-rich single-pass membrane protein 1																																				SO:0001589	frameshift_variant	136263							g.chr7:129856199_129856221delATGGTTGGCGCACCATTCCCGAC	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.624_646delATGGTTGGCGCACCATTCCCGAC	7.37:g.129856199_129856221delATGGTTGGCGCACCATTCCCGAC	ENSP00000297819:p.Trp209fs						p.EWLAHHSRQ208fs	NM_145268.3	NP_660311.1					3	675_697	+									Frame_Shift_Del	DEL	ENST00000297819.3	37	c.624_646delATGGTTGGCGCACCATTCCCGAC	CCDS5816.1																																																																																				0.426	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		7	208						7	208	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		4	9						4	9	---	---	---	---
HOOK3	84376	broad.mit.edu	37	8	42865543	42865544	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:42865543_42865544delAA	ENST00000307602.4	+	19	2034_2035	c.1834_1835delAA	c.(1834-1836)aaafs	p.K612fs	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	612	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGAGAAAGCCAAAAGTGTAAGT	0.342			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1834-1836)afs		hook microtubule-tethering protein 3																																				SO:0001589	frameshift_variant	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42865543_42865544delAA	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1834_1835delAA	8.37:g.42865545_42865546delAA	ENSP00000305699:p.Lys612fs					HOOK3_ENST00000524839.1_3'UTR	p.K612fs	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		19	2034_2035	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	612			Required for association with Golgi.|Required for interaction with MSR1.		D3DSY8|Q8NBH0|Q9BY13	Frame_Shift_Del	DEL	ENST00000307602.4	37	c.1834_1835delAA	CCDS6139.1																																																																																				0.342	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		2	4						2	4	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78215586	78215587	+	lincRNA	INS	-	-	T	rs371932549	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:78215586_78215587insT	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							AAAATGAGAAATTTAAAAAAAA	0.441													tt|TTT|TTTT|cryptic_indel	51	0.0101837	0.0333	0.0029	5008	,	,		18873	0.001		0.001	False		,,,				2504	0.0031					ENST00000567226.1																			0																																																			0							g.chr15:78215586_78215587insT																													15.37:g.78215589_78215589dupT														0	225	-									RNA	INS	ENST00000565869.1	37																																																																																						0.441	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	4						3	4	---	---	---	---
RND2	8153	broad.mit.edu	37	17	41177403	41177403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:41177403delG	ENST00000587250.2	+	1	146	c.39delG	c.(37-39)gtgfs	p.V13fs	RND2_ENST00000544533.1_Frame_Shift_Del_p.V13fs|VAT1_ENST00000355653.3_5'Flank			P52198	RND2_HUMAN	Rho family GTPase 2	13					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGTGGTGGTGGGAGACGCAG	0.731																																						ENST00000544533.1																			0				large_intestine(1)|skin(1)	2						c.(37-39)gtfs		Rho family GTPase 2							20.0	15.0	16.0					17																	41177403		2067	4108	6175	SO:0001589	frameshift_variant	8153				small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity	g.chr17:41177403delG	X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"""ras homolog gene family, member N"""	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.39delG	17.37:g.41177403delG	ENSP00000466680:p.Val13fs					RND2_ENST00000587250.2_Frame_Shift_Del_p.V13fs	p.V13fs	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	146	+		Breast(137;0.000717)	13					A8K2D4|O00690|O00734|Q5U0P6|Q99535	Frame_Shift_Del	DEL	ENST00000587250.2	37	c.39delG	CCDS11452.1																																																																																				0.731	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2	NM_005440		2	4						2	4	---	---	---	---
