#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
MEGF6	1953	broad.mit.edu	37	1	3412515	3412515	+	Silent	SNP	G	G	A	rs544058443		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:3412515G>A	ENST00000356575.4	-	30	4036	c.3810C>T	c.(3808-3810)tgC>tgT	p.C1270C	MEGF6_ENST00000294599.4_Silent_p.C1035C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1270	EGF-like 23. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCACAGGGTCGCAGGCCGCCC	0.706													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13787	0.0		0.0	False		,,,				2504	0.0				Ovarian(73;978 3658)	uc001akl.3																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3808-3810)tgC>tgT		Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.							9.0	11.0	10.0					1																	3412515		1872	4083	5955	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3412515G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3810C>T	1.37:g.3412515G>A						MEGF6_uc001akk.3_Silent_p.C1035C	p.C1270C	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	29	4037	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1270			EGF-like 23.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.3810C>T	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	g	8.096	0.775639	0.16051	.	.	ENSG00000162591	ENST00000491842	.	.	.	4.49	-8.98	0.00754	.	.	.	.	.	T	0.63165	0.2488	.	.	.	0.47153	D	0.99933	.	.	.	.	.	.	T	0.72010	-0.4419	4	.	.	.	-13.2651	17.5271	0.87803	0.4381:0.0:0.5619:0.0	.	.	.	.	V	44	.	.	A	-	2	0	MEGF6	3402375	0.000000	0.05858	0.264000	0.24511	0.064000	0.16182	-1.464000	0.02359	-2.187000	0.00759	-2.041000	0.00417	GCG		0.706	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409	
SZT2	23334	broad.mit.edu	37	1	43909459	43909459	+	Silent	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:43909459C>T	ENST00000562955.1	+	61	8646	c.8646C>T	c.(8644-8646)ccC>ccT	p.P2882P	SZT2_ENST00000372442.1_Silent_p.P2040P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2939					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCCCCTCACCCGCCCGCAGGT	0.572																																						uc001cjk.2																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6118-6120)ccC>ccT		Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							101.0	103.0	102.0					1																	43909459		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43909459C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8646C>T	1.37:g.43909459C>T						SZT2_uc001cjl.2_5'Flank	p.P2040P	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			60	8730	+			2939					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.6120C>T	CCDS30694.2																																																																																				0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
BARHL2	343472	broad.mit.edu	37	1	91182336	91182336	+	Silent	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:91182336C>T	ENST00000370445.4	-	1	458	c.417G>A	c.(415-417)acG>acA	p.T139T		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	139					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AAAAAGAAGACGTGGAAGTCC	0.657																																					GBM(199;3561 4100 22440)	uc001dns.3																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(415-417)acG>acA		Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.							21.0	21.0	21.0					1																	91182336		2180	4274	6454	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182336C>T	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.417G>A	1.37:g.91182336C>T							p.T139T	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	0	459	-		all_lung(203;0.0263)|Lung SC(238;0.128)	139					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.417G>A	CCDS730.1																																																																																				0.657	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2		
SLC6A17	388662	broad.mit.edu	37	1	110735165	110735165	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:110735165G>A	ENST00000331565.4	+	8	1629	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	382					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TAACACCAACGTCCTGAGCCG	0.537																																						uc009wfq.3																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1144-1146)Gtc>Atc		Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.							158.0	130.0	139.0					1																	110735165		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110735165G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1144G>A	1.37:g.110735165G>A	ENSP00000330199:p.Val382Ile					SLC6A17_uc001dze.1_5'UTR	p.V382I	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	7	1605	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	382					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1144G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485718	0.44147	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.73363	-0.74	5.3	4.39	0.52855	.	0.125717	0.52532	D	0.000068	T	0.50531	0.1621	L	0.36672	1.1	0.41125	D	0.985849	B	0.18461	0.028	B	0.16289	0.015	T	0.51028	-0.8757	10	0.36615	T	0.2	.	14.2122	0.65771	0.0725:0.0:0.9275:0.0	.	382	Q9H1V8	S6A17_HUMAN	I	382	ENSP00000330199:V382I	ENSP00000330199:V382I	V	+	1	0	SLC6A17	110536688	1.000000	0.71417	0.912000	0.35992	0.790000	0.44656	6.463000	0.73530	1.248000	0.43934	-0.128000	0.14901	GTC		0.537	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280	
RFX5	5993	broad.mit.edu	37	1	151315095	151315095	+	Nonsense_Mutation	SNP	G	G	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:151315095G>C	ENST00000290524.4	-	11	1596	c.1418C>G	c.(1417-1419)tCa>tGa	p.S473*	RFX5_ENST00000452513.2_Nonsense_Mutation_p.S433*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.S473*|RFX5_ENST00000478564.1_5'Flank|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Nonsense_Mutation_p.S473*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	473					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTTCCACCTGACTTTTTTCG	0.547																																						uc001exv.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1417-1419)tCa>tGa		Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.							225.0	249.0	241.0					1																	151315095		2203	4300	6503	SO:0001587	stop_gained	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151315095G>C		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1418C>G	1.37:g.151315095G>C	ENSP00000290524:p.Ser473*					RFX5_uc001exw.1_Nonsense_Mutation_p.S473*|RFX5_uc010pcx.1_Nonsense_Mutation_p.S433*	p.S473*	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		10	1632	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		473					B7Z848|D3DV19|E9PFU4|Q5VWC3	Nonsense_Mutation	SNP	ENST00000290524.4	37	c.1418C>G	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	37	6.376935	0.97515	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	.	.	.	5.42	3.56	0.40772	.	0.407395	0.22132	N	0.064162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-1.247	8.4841	0.33061	0.1746:0.0:0.8254:0.0	.	.	.	.	X	473;473;473;433;473	.	ENSP00000290524:S473X	S	-	2	0	RFX5	149581719	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.171000	0.31896	0.863000	0.35553	0.491000	0.48974	TCA		0.547	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449	
IL20	50604	broad.mit.edu	37	1	207039922	207039922	+	Missense_Mutation	SNP	C	C	T	rs373331152		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:207039922C>T	ENST00000367098.1	+	4	682	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	IL20_ENST00000391930.2_Missense_Mutation_p.R107W|IL20_ENST00000367096.3_Missense_Mutation_p.R107W			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TTATACTCTCCGGAAGATCAG	0.512																																						uc001her.3																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9						c.(319-321)Cgg>Tgg		Homo sapiens interleukin 20 (IL20), mRNA.		C	TRP/ARG	0,4406		0,0,2203	170.0	177.0	174.0		319	1.9	0.9	1		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL20	NM_018724.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	107/177	207039922	1,13005	2203	4300	6503	SO:0001583	missense	50604				positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	g.chr1:207039922C>T	AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.319C>T	1.37:g.207039922C>T	ENSP00000356065:p.Arg107Trp					IL20_uc009xby.3_Missense_Mutation_p.R107W	p.R107W	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00459)	2	363	+	Breast(84;0.201)		107		R -> Q (in dbSNP:rs35856950).			Q14CE5	Missense_Mutation	SNP	ENST00000367098.1	37	c.319C>T	CCDS1470.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843288	0.51057	0.0	1.16E-4	ENSG00000162891	ENST00000367098;ENST00000367096;ENST00000391930	T;T;T	0.63580	-0.05;-0.05;2.12	5.06	1.87	0.25490	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.123699	0.52532	D	0.000072	T	0.78233	0.4251	M	0.85041	2.73	0.40542	D	0.981036	D;D	0.89917	1.0;1.0	D;D	0.87578	0.984;0.998	T	0.80388	-0.1403	10	0.87932	D	0	-4.1553	10.7053	0.45952	0.5004:0.4996:0.0:0.0	.	107;107	Q2THG6;Q9NYY1	.;IL20_HUMAN	W	107	ENSP00000356065:R107W;ENSP00000356063:R107W;ENSP00000375796:R107W	ENSP00000356063:R107W	R	+	1	2	IL20	205106545	0.129000	0.22400	0.905000	0.35620	0.526000	0.34562	0.309000	0.19332	0.603000	0.29913	-0.181000	0.13052	CGG		0.512	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724	
OBSCN	84033	broad.mit.edu	37	1	228557666	228557666	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:228557666C>T	ENST00000422127.1	+	91	20035	c.19991C>T	c.(19990-19992)gCc>gTc	p.A6664V	OBSCN_ENST00000366707.4_Missense_Mutation_p.A4298V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A7621V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCCATTTGCCGGCGAGAGT	0.632																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(19990-19992)gCc>gTc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							70.0	72.0	71.0					1																	228557666		2037	4186	6223	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557666C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19991C>T	1.37:g.228557666C>T	ENSP00000409493:p.Ala6664Val					OBSCN_uc001hsr.1_Missense_Mutation_p.A1293V	p.A6664V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			90	20035	+		Prostate(94;0.0405)	6664			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.19991C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841748	0.51057	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.66099	-0.19;-0.19	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57858	0.2082	L	0.33137	0.985	0.80722	D	1	P	0.48089	0.905	P	0.45794	0.493	T	0.63594	-0.6602	9	0.62326	D	0.03	.	16.174	0.81840	0.0:1.0:0.0:0.0	.	6664	Q5VST9	OBSCN_HUMAN	V	6664;4298	ENSP00000409493:A6664V;ENSP00000355668:A4298V	ENSP00000355668:A4298V	A	+	2	0	OBSCN	226624289	0.988000	0.35896	0.804000	0.32291	0.141000	0.21300	2.536000	0.45693	2.495000	0.84180	0.455000	0.32223	GCC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ZP4	57829	broad.mit.edu	37	1	238050155	238050155	+	Missense_Mutation	SNP	C	C	T	rs148891266	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:238050155C>T	ENST00000366570.4	-	6	913	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	252	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATACTGCTCGGTCTCCAGT	0.473													C|||	5	0.000998403	0.003	0.0	5008	,	,		21782	0.0		0.0	False		,,,				2504	0.001				NSCLC(166;160 2029 11600 18754 19936)	uc001hym.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(754-756)cGa>cAa		Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.		C	GLN/ARG	7,4399	12.9+/-30.5	0,7,2196	166.0	152.0	157.0		755	1.0	0.0	1	dbSNP_134	157	0,8600		0,0,4300	yes	missense	ZP4	NM_021186.3	43	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	252/541	238050155	7,12999	2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050155C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.755G>A	1.37:g.238050155C>T	ENSP00000355529:p.Arg252Gln					LOC100130331_uc010pyc.2_Intron	p.R252Q	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1042	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	252			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.755G>A	CCDS1615.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	0.006	-2.079504	0.00375	0.001589	0.0	ENSG00000116996	ENST00000366570	D	0.82619	-1.63	4.96	1.03	0.20045	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.744665	0.12890	N	0.430705	T	0.47619	0.1455	N	0.00473	-1.45	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.48387	-0.9040	10	0.02654	T	1	-2.6382	7.6385	0.28280	0.0:0.3681:0.0:0.6319	.	252	Q12836	ZP4_HUMAN	Q	252	ENSP00000355529:R252Q	ENSP00000355529:R252Q	R	-	2	0	ZP4	236116778	0.000000	0.05858	0.004000	0.12327	0.066000	0.16364	-0.293000	0.08320	-0.046000	0.13446	-0.290000	0.09829	CGA		0.473	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
OR2M1P	388762	broad.mit.edu	37	1	248285650	248285650	+	IGR	SNP	A	A	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:248285650A>T								OR2L13 (21426 upstream) : OR2M5 (22799 downstream)																							TGAGACCCAAAATTTGTAGAC	0.458																																						uc001idy.1																			0											c.(211-213)aaA>aaT		Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																																				SO:0001628	intergenic_variant	388762							g.chr1:248285650A>T																													1.37:g.248285650A>T							p.K71N							0	213	+									Missense_Mutation	SNP		37	c.213A>T																																																																																				0	0.458								
VIM	7431	broad.mit.edu	37	10	17271903	17271903	+	Missense_Mutation	SNP	T	T	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr10:17271903T>G	ENST00000224237.5	+	1	627	c.482T>G	c.(481-483)gTg>gGg	p.V161G	VIM_ENST00000544301.1_Missense_Mutation_p.V161G|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000485947.1_3'UTR			P08670	VIME_HUMAN	vimentin	161	Coil 1B.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCCGGCAGGTGGACCAGCTA	0.647																																						uc001iou.2																			0		p.Q160K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(481-483)gTg>gGg		Homo sapiens vimentin (VIM), mRNA.							20.0	21.0	21.0					10																	17271903		2200	4296	6496	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17271903T>G	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.482T>G	10.37:g.17271903T>G	ENSP00000224237:p.Val161Gly					BC078172_uc001iot.1_Non-coding_Transcript	p.V161G	NM_003380	NP_003371	P08670	VIME_HUMAN			1	895	+			161			Coil 1B.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.482T>G	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.002330	0.93227	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.90069	-2.61;-2.61	5.14	5.14	0.70334	Filament (1);	0.000000	0.41938	D	0.000787	D	0.96097	0.8728	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.999	D	0.97349	0.9962	10	0.87932	D	0	.	14.9497	0.71064	0.0:0.0:0.0:1.0	.	161;148;148;161;161	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	G	161;161;148	ENSP00000446007:V161G;ENSP00000224237:V161G	ENSP00000224237:V161G	V	+	2	0	VIM	17311909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.962000	0.87912	1.938000	0.56188	0.450000	0.29827	GTG		0.647	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380	
TNKS2	80351	broad.mit.edu	37	10	93579732	93579732	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr10:93579732G>A	ENST00000371627.4	+	6	1049	c.670G>A	c.(670-672)Gta>Ata	p.V224I		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	224					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATATAACAGAGTAAAGATTGT	0.328																																						uc001khp.3																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(670-672)Gta>Ata		Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.							118.0	122.0	120.0					10																	93579732		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93579732G>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.670G>A	10.37:g.93579732G>A	ENSP00000360689:p.Val224Ile						p.V224I	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			5	967	+		Colorectal(252;0.162)	224					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.670G>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472025	0.63737	.	.	ENSG00000107854	ENST00000371627	T	0.63913	-0.07	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.239165	0.28877	N	0.013856	T	0.50888	0.1642	N	0.21448	0.665	0.58432	D	0.999994	B	0.14438	0.01	B	0.13407	0.009	T	0.40590	-0.9555	10	0.23302	T	0.38	.	19.3041	0.94153	0.0:0.0:1.0:0.0	.	224	Q9H2K2	TNKS2_HUMAN	I	224	ENSP00000360689:V224I	ENSP00000360689:V224I	V	+	1	0	TNKS2	93569712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.964000	0.87933	2.561000	0.86390	0.557000	0.71058	GTA		0.328	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
MKI67	4288	broad.mit.edu	37	10	129902650	129902650	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr10:129902650G>A	ENST00000368654.3	-	13	7829	c.7454C>T	c.(7453-7455)cCc>cTc	p.P2485L	MKI67_ENST00000368653.3_Missense_Mutation_p.P2125L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2485	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCACCAGGGGTATCTTGAG	0.473																																						uc001lke.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7453-7455)cCc>cTc		Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.							146.0	151.0	149.0					10																	129902650		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902650G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7454C>T	10.37:g.129902650G>A	ENSP00000357643:p.Pro2485Leu					MKI67_uc001lkf.3_Missense_Mutation_p.P2125L|MKI67_uc009yav.1_Missense_Mutation_p.P2060L|MKI67_uc009yaw.1_Missense_Mutation_p.P1635L	p.P2485L	NM_002417	NP_002408	P46013	KI67_HUMAN			12	7649	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2485			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7454C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	6.415	0.444671	0.12164	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02103	4.45;4.45	2.75	0.758	0.18432	.	44.967400	0.00166	N	0.000000	T	0.02649	0.0080	L	0.36672	1.1	0.09310	N	1	B;B;B	0.15719	0.004;0.0;0.014	B;B;B	0.18871	0.006;0.0;0.023	T	0.45293	-0.9271	10	0.45353	T	0.12	.	2.2986	0.04156	0.1243:0.2804:0.4367:0.1586	.	2484;2125;2485	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	2485;2125;2484	ENSP00000357643:P2485L;ENSP00000357642:P2125L	ENSP00000357642:P2125L	P	-	2	0	MKI67	129792640	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.023000	0.13533	0.195000	0.20347	-0.309000	0.09137	CCC		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MUC5AC	4586	broad.mit.edu	37	11	1156635	1156635	+	Missense_Mutation	SNP	C	C	T	rs539794217		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:1156635C>T	ENST00000356191.2	+	10	644	c.644C>T	c.(643-645)gCc>gTc	p.A215V				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	214	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CAACGGGATGCCCGTGGTCAG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18238	0.0		0.0	False		,,,				2504	0.0					uc021qbr.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(652-654)Ccc>Tcc		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							117.0	112.0	113.0					11																	1156635		875	1990	2865	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1156635C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.644C>T	11.37:g.1156635C>T	ENSP00000348519:p.Ala215Val						p.P218S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	5	699	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	214			VWFD 1.		O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.652C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.308|9.308	1.054817|1.054817	0.19907|0.19907	.|.	.|.	ENSG00000215182|ENSG00000215182	ENST00000356191|ENST00000534821	T|T	0.16897|0.60548	2.31|0.18	2.85|2.85	1.89|1.89	0.25635|0.25635	.|.	.|.	.|.	.|.	.|.	T|T	0.58409|0.58409	0.2120|0.2120	L|L	0.48362|0.48362	1.52|1.52	.|.	.|.	.|.	.|P	.|0.52316	.|0.952	.|P	.|0.57468	.|0.821	T|T	0.61540|0.61540	-0.7042|-0.7042	6|8	0.13853|0.36615	T|T	0.58|0.2	.|.	5.085|5.085	0.14676|0.14676	0.3704:0.5265:0.0:0.103|0.3704:0.5265:0.0:0.103	.|.	.|218	.|A7Y9J9	.|.	V|S	215|218	ENSP00000348519:A215V|ENSP00000435591:P218S	ENSP00000348519:A215V|ENSP00000435591:P218S	A|P	+|+	2|1	0|0	MUC5AC|MUC5AC	1146635|1146635	.|.	.|.	0.011000|0.011000	0.14972|0.14972	0.009000|0.009000	0.06853|0.06853	.|.	.|.	0.746000|0.746000	0.32786|0.32786	0.546000|0.546000	0.68486|0.68486	GCC|CCC		0.612	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382	
BIRC3	330	broad.mit.edu	37	11	102195409	102195409	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:102195409T>C	ENST00000263464.3	+	2	2919	c.169T>C	c.(169-171)Tac>Cac	p.Y57H	BIRC3_ENST00000532808.1_Missense_Mutation_p.Y57H	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	57					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGGTTTCTATTACACTGGTGT	0.438			T	MALT1	MALT																																	uc001pgx.3				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21						c.(169-171)Tac>Cac		Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.							157.0	150.0	153.0					11																	102195409		2203	4299	6502	SO:0001583	missense	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195409T>C	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.169T>C	11.37:g.102195409T>C	ENSP00000263464:p.Tyr57His						p.Y57H	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	1	2964	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	57					Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	c.169T>C	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317049	0.81469	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.07688	3.17;3.17	5.93	4.81	0.61882	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01743	-1.1283	10	0.87932	D	0	.	11.8094	0.52173	0.0:0.0682:0.0:0.9318	.	57	Q13489	BIRC3_HUMAN	H	57	ENSP00000263464:Y57H;ENSP00000432907:Y57H	ENSP00000263464:Y57H	Y	+	1	0	BIRC3	101700619	1.000000	0.71417	0.867000	0.34043	0.983000	0.72400	8.040000	0.89188	1.079000	0.41038	0.482000	0.46254	TAC		0.438	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						uc001qej.2																			0		p.F53F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.							155.0	134.0	140.0					11																	128426243		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu						p.F53L	NM_001143820	NP_001137292	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	2	242	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	151			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238	
KCNA5	3741	broad.mit.edu	37	12	5153876	5153876	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:5153876C>T	ENST00000252321.3	+	1	792	c.563C>T	c.(562-564)cCg>cTg	p.P188L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	188				RP -> G (in Ref. 1; AAA61276). {ECO:0000305}.	atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.P188L(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTGCGGAGGCCGGTCAACGTC	0.617																																						uc001qni.3																			1	Substitution - Missense(1)	p.P188L(2)	large_intestine(1)	NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(562-564)cCg>cTg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.							38.0	42.0	40.0					12																	5153876		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153876C>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.563C>T	12.37:g.5153876C>T	ENSP00000252321:p.Pro188Leu						p.P188L	NM_002234	NP_002225	P22460	KCNA5_HUMAN			0	792	+			188	RP -> G (in Ref. 1; AAA61276).				Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.563C>T	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491005	0.84962	.	.	ENSG00000130037	ENST00000252321	T	0.77489	-1.1	4.77	4.77	0.60923	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.90635	0.7063	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92943	0.6374	10	0.87932	D	0	.	16.9696	0.86295	0.0:1.0:0.0:0.0	.	188	P22460	KCNA5_HUMAN	L	188	ENSP00000252321:P188L	ENSP00000252321:P188L	P	+	2	0	KCNA5	5024137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.592000	0.82676	2.478000	0.83669	0.561000	0.74099	CCG		0.617	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234	
SMARCD1	6602	broad.mit.edu	37	12	50484023	50484023	+	Splice_Site	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:50484023G>A	ENST00000394963.4	+	8	1271		c.e8-1		SMARCD1_ENST00000548573.1_Splice_Site|SMARCD1_ENST00000381513.4_Splice_Site	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GTTCCCTGCAGCCTCCCCAGT	0.458																																						uc001rvx.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						c.e8-1		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA.							83.0	90.0	88.0					12																	50484023		2203	4300	6503	SO:0001630	splice_region_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50484023G>A	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.874-1G>A	12.37:g.50484023G>A						SMARCD1_uc001rvy.4_Splice_Site_p.P292_splice|SMARCD1_uc009zlp.3_Splice_Site_p.P251_splice	p.P292_splice	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN			8	1044	+			292			Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|SWIB.			Splice_Site	SNP	ENST00000394963.4	37	c.874_splice	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192982	0.78902	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000542914;ENST00000548573	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4236	0.90600	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCD1	48770290	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	9.595000	0.98260	2.647000	0.89833	0.655000	0.94253	.		0.458	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076	Intron
LACRT	90070	broad.mit.edu	37	12	55025622	55025622	+	Splice_Site	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:55025622T>C	ENST00000257867.4	-	4	308	c.255A>G	c.(253-255)aaA>aaG	p.K85K	LACRT_ENST00000547511.1_Intron	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	85					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCACTATGGATTCTAATTTTG	0.468																																						uc001sgi.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						c.e4-1		Homo sapiens lacritin (LACRT), mRNA.							157.0	145.0	149.0					12																	55025622		2203	4300	6503	SO:0001630	splice_region_variant	90070				calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	g.chr12:55025622T>C	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.254-1A>G	12.37:g.55025622T>C							p.K85_splice	NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN			4	292	-			85						Silent	SNP	ENST00000257867.4	37	c.254_splice	CCDS8883.1																																																																																				0.468	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277	Silent
MYF5	4617	broad.mit.edu	37	12	81111227	81111227	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:81111227C>T	ENST00000228644.3	+	1	537	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	129	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.R129S(1)|p.R129C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAATGCCATCCGCTACATCGA	0.587																																						uc001szg.2																			2	Substitution - Missense(2)	p.R129S(2)|p.R129C(2)	lung(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(385-387)Cgc>Tgc		Homo sapiens myogenic factor 5 (MYF5), mRNA.							91.0	90.0	91.0					12																	81111227		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111227C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.385C>T	12.37:g.81111227C>T	ENSP00000228644:p.Arg129Cys						p.R129C	NM_005593	NP_005584	P13349	MYF5_HUMAN			0	520	+			129			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.385C>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478591	0.63849	.	.	ENSG00000111049	ENST00000228644	D	0.98028	-4.67	6.06	5.1	0.69264	Helix-loop-helix DNA-binding (5);	0.103424	0.64402	D	0.000004	D	0.97371	0.9140	L	0.37507	1.11	0.49582	D	0.999805	D	0.76494	0.999	P	0.60609	0.877	D	0.97499	1.0059	10	0.62326	D	0.03	-7.3133	16.3625	0.83273	0.1948:0.8052:0.0:0.0	.	129	P13349	MYF5_HUMAN	C	129	ENSP00000228644:R129C	ENSP00000228644:R129C	R	+	1	0	MYF5	79635358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.807000	0.38902	2.882000	0.98803	0.655000	0.94253	CGC		0.587	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593	
TMEM132D	121256	broad.mit.edu	37	12	129558604	129558604	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:129558604G>A	ENST00000422113.2	-	9	3442	c.3116C>T	c.(3115-3117)aCc>aTc	p.T1039I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T577I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1039					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTTTTTGAGGTAGGGGATGT	0.488																																						uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(3115-3117)aCc>aTc		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							113.0	118.0	116.0					12																	129558604		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558604G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3116C>T	12.37:g.129558604G>A	ENSP00000408581:p.Thr1039Ile					TMEM132D_uc001uia.2_Missense_Mutation_p.T577I	p.T1039I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	3444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1039					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3116C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920650	0.73213	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.16597	2.33;3.23	4.16	3.25	0.37280	.	0.162825	0.41823	D	0.000806	T	0.45377	0.1339	M	0.86740	2.835	0.40609	D	0.981651	D;D	0.76494	0.992;0.999	P;D	0.72625	0.868;0.978	T	0.55134	-0.8188	9	.	.	.	-42.2767	13.9992	0.64421	0.0:0.1531:0.8469:0.0	.	1039;577	Q14C87;Q14C87-2	T132D_HUMAN;.	I	577;1039	ENSP00000374092:T577I;ENSP00000408581:T1039I	.	T	-	2	0	TMEM132D	128124557	1.000000	0.71417	0.734000	0.30879	0.900000	0.52787	9.505000	0.97989	0.833000	0.34828	0.563000	0.77884	ACC		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
HECTD1	25831	broad.mit.edu	37	14	31675061	31675061	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:31675061G>A	ENST00000399332.1	-	2	570	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	HECTD1_ENST00000553700.1_Missense_Mutation_p.L28F|HECTD1_ENST00000556474.1_5'UTR	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	28					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGCTGTTCAAGGGCTATTAGT	0.428																																						uc001wrc.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(82-84)Ctt>Ttt		Homo sapiens HECT domain containing 1 (HECTD1), mRNA.							191.0	180.0	183.0					14																	31675061		1999	4168	6167	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31675061G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.82C>T	14.37:g.31675061G>A	ENSP00000382269:p.Leu28Phe					HECTD1_uc001wre.3_Non-coding_Transcript	p.L28F	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	1	571	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		28					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.82C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380082	0.82682	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.75821	-0.97;-0.97;-0.97	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.85299	2.745	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	D	0.87145	0.2205	10	0.87932	D	0	-10.8445	10.097	0.42482	0.1486:0.0:0.8514:0.0	.	28	Q9ULT8	HECD1_HUMAN	F	28	ENSP00000450697:L28F;ENSP00000382269:L28F;ENSP00000452015:L28F	ENSP00000261312:L28F	L	-	1	0	HECTD1	30744812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.166000	0.42406	2.626000	0.88956	0.561000	0.74099	CTT		0.428	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
ARHGAP5	394	broad.mit.edu	37	14	32561946	32561946	+	Missense_Mutation	SNP	A	A	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:32561946A>T	ENST00000345122.3	+	2	2386	c.2071A>T	c.(2071-2073)Atg>Ttg	p.M691L	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.M691L|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.M691L|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.M691L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	691					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGATAAATACATGGCTAATCT	0.358																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2071-2073)Atg>Ttg		Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.							60.0	61.0	61.0					14																	32561946		2203	4299	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561946A>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2071A>T	14.37:g.32561946A>T	ENSP00000371897:p.Met691Leu					ARHGAP5_uc001wrm.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	p.M691L	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	1	2310	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		691					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2071A>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.637114	0.00799	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.54	5.54	0.83059	.	0.219081	0.64402	D	0.000020	T	0.03739	0.0106	N	0.02315	-0.6	0.33199	D	0.551871	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.20240	-1.0281	10	0.08381	T	0.77	.	15.9755	0.80060	1.0:0.0:0.0:0.0	.	691;691	Q13017-2;Q13017	.;RHG05_HUMAN	L	691	ENSP00000452222:M691L;ENSP00000441692:M691L;ENSP00000371897:M691L;ENSP00000393307:M691L	ENSP00000371897:M691L	M	+	1	0	ARHGAP5	31631697	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.489000	0.60309	2.219000	0.72066	0.528000	0.53228	ATG		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
DICER1	23405	broad.mit.edu	37	14	95590756	95590756	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:95590756G>A	ENST00000526495.1	-	10	1444	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	DICER1_ENST00000393063.1_Missense_Mutation_p.R385C|DICER1_ENST00000541352.1_Missense_Mutation_p.R385C|DICER1_ENST00000343455.3_Missense_Mutation_p.R385C|DICER1_ENST00000527414.1_Missense_Mutation_p.R385C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	385	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTATATTTGCGTAAGATTTCG	0.378			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(1153-1155)Cgc>Tgc		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							147.0	146.0	147.0					14																	95590756		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590756G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1153C>T	14.37:g.95590756G>A	ENSP00000437256:p.Arg385Cys					DICER1_uc021sbc.1_Missense_Mutation_p.R385C|DICER1_uc001ydv.2_Missense_Mutation_p.R375C|DICER1_uc001ydx.2_Missense_Mutation_p.R385C	p.R385C	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	8	1365	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	385			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1153C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625808	0.87560	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.52	5.54	5.54	0.83059	.	0.096661	0.64402	D	0.000001	T	0.65626	0.2709	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	P	0.49999	0.628	T	0.68777	-0.5319	10	0.62326	D	0.03	-17.1745	19.4888	0.95042	0.0:0.0:1.0:0.0	.	385	Q9UPY3	DICER_HUMAN	C	385	ENSP00000343745:R385C;ENSP00000437256:R385C;ENSP00000376783:R385C;ENSP00000435681:R385C;ENSP00000444719:R385C	ENSP00000343745:R385C	R	-	1	0	DICER1	94660509	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	9.187000	0.94912	2.607000	0.88179	0.585000	0.79938	CGC		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
GABRA5	2558	broad.mit.edu	37	15	27128491	27128491	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr15:27128491C>A	ENST00000335625.5	+	6	1172	c.284C>A	c.(283-285)aCc>aAc	p.T95N	GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.T95N|GABRA5_ENST00000355395.5_Missense_Mutation_p.T95N	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	95					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TAGGAGTACACCATAGACGTG	0.592																																						uc001zbd.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(283-285)aCc>aAc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						91.0	98.0	96.0					15																	27128491		2005	4172	6177	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27128491C>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.284C>A	15.37:g.27128491C>A	ENSP00000335592:p.Thr95Asn					GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.T95N	p.T95N	NM_000810	NP_001158509	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	5	816	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	95					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.284C>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459586	0.84317	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92234	0.5795	10	0.72032	D	0.01	.	18.53	0.90987	0.0:1.0:0.0:0.0	.	95	P31644	GBRA5_HUMAN	N	95;95;63;95;95;95;63	ENSP00000335592:T95N;ENSP00000347557:T95N;ENSP00000450653:T63N;ENSP00000382953:T95N;ENSP00000450806:T95N;ENSP00000450717:T95N;ENSP00000450529:T63N	ENSP00000335592:T95N	T	+	2	0	GABRA5	24679584	1.000000	0.71417	0.977000	0.42913	0.556000	0.35491	7.535000	0.82014	2.695000	0.91970	0.561000	0.74099	ACC		0.592	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																						uc010uaf.1																			0											c.(286-288)ctT>ctC		SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																																						0							g.chr15:28599954A>G																													15.37:g.28599954A>G						DQ595648_uc021sgj.1_5'Flank	p.L96L							3	306	-									Silent	SNP	ENST00000568624.1	37	c.288T>C																																																																																					0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1		
ALPK3	57538	broad.mit.edu	37	15	85407896	85407896	+	Splice_Site	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr15:85407896G>A	ENST00000258888.5	+	12	5496	c.5329G>A	c.(5329-5331)Ggg>Agg	p.G1777R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1777	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGACTTGGCAGGTACGAGGGT	0.537																																						uc002ble.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e12+1		Homo sapiens alpha-kinase 3 (ALPK3), mRNA.							113.0	88.0	96.0					15																	85407896		2203	4298	6501	SO:0001630	splice_region_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85407896G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5329+1G>A	15.37:g.85407896G>A						ALPK3_uc010upc.2_Splice_Site_p.G78_splice	p.G1777_splice	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	5496	+			1777			Alpha-type protein kinase.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.5329_splice	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816344	0.90790	.	.	ENSG00000136383	ENST00000258888	T	0.45668	0.89	5.62	5.62	0.85841	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66312	-0.5955	10	0.87932	D	0	-29.0405	17.1691	0.86824	0.0:0.0:1.0:0.0	.	78;1777	B4DU37;Q96L96	.;ALPK3_HUMAN	R	1777	ENSP00000258888:G1777R	ENSP00000258888:G1777R	G	+	1	0	ALPK3	83208900	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	9.085000	0.94083	2.648000	0.89879	0.563000	0.77884	GGG		0.537	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	Missense_Mutation
CAPN15	6650	broad.mit.edu	37	16	601614	601614	+	Silent	SNP	G	G	A	rs143897279	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr16:601614G>A	ENST00000219611.2	+	9	2658	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	765	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGCTCATGCCGCACGGCAGCA	0.687													g|||	27	0.00539137	0.0166	0.0043	5008	,	,		13903	0.0		0.0	False		,,,				2504	0.002					uc002chi.3																			0				breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2293-2295)ccG>ccA		Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.				109,4291	80.4+/-118.8	2,105,2093	45.0	52.0	50.0		2295	-10.5	0.0	16	dbSNP_134	50	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	SOLH	NM_005632.2		2,107,6389	AA,AG,GG		0.0233,2.4773,0.8541		765/1087	601614	111,12885	2200	4298	6498	SO:0001819	synonymous_variant	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:601614G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2295G>A	16.37:g.601614G>A						SOLH_uc002chj.3_5'Flank	p.P765P	NM_005632	NP_005623	O75808	CAN15_HUMAN			8	2658	+		Hepatocellular(780;0.00335)	765			Calpain catalytic.		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.2295G>A	CCDS10410.1																																																																																				0.687	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632	
PLEKHG4	25894	broad.mit.edu	37	16	67318812	67318812	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr16:67318812C>T	ENST00000360461.5	+	12	4424	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A630V|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A549V|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A630V	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	630							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGCCTGGGCGCGGTGCCAG	0.662																																						uc010cef.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1888-1890)gCg>gTg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.							17.0	17.0	17.0					16																	67318812		2195	4294	6489	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67318812C>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1889C>T	16.37:g.67318812C>T	ENSP00000353646:p.Ala630Val					PLEKHG4_uc002eso.4_Missense_Mutation_p.A630V|PLEKHG4_uc002esp.4_Missense_Mutation_p.A437V|PLEKHG4_uc002esq.4_Missense_Mutation_p.A630V|PLEKHG4_uc002ess.4_Missense_Mutation_p.A630V|PLEKHG4_uc010ceg.3_Missense_Mutation_p.A549V	p.A630V	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	12	2188	+			630					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.1889C>T	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595481	0.28445	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.09911	2.93;2.93;2.93;2.96	4.34	3.37	0.38596	.	.	.	.	.	T	0.14056	0.0340	L	0.32530	0.975	0.19300	N	0.999973	D;B	0.64830	0.994;0.079	P;B	0.53760	0.734;0.004	T	0.14896	-1.0456	9	0.22109	T	0.4	.	11.2184	0.48840	0.0:0.9058:0.0:0.0942	.	549;630	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	V	630;630;630;549	ENSP00000353646:A630V;ENSP00000401118:A630V;ENSP00000368649:A630V;ENSP00000398030:A549V	ENSP00000353646:A630V	A	+	2	0	PLEKHG4	65876313	0.180000	0.23148	0.590000	0.28732	0.427000	0.31564	1.285000	0.33261	1.965000	0.57142	0.591000	0.81541	GCG		0.662	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432	
ANKRD11	29123	broad.mit.edu	37	16	89341552	89341552	+	Silent	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr16:89341552C>T	ENST00000301030.4	-	10	7978	c.7518G>A	c.(7516-7518)agG>agA	p.R2506R	ANKRD11_ENST00000378330.2_Silent_p.R2506R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2506					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R2506R(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCTGCTGCCTGAACAGCT	0.662																																						uc002fmx.1																			1	Substitution - coding silent(1)	p.R2506R(2)	prostate(1)	breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7516-7518)agG>agA		Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.							23.0	20.0	21.0					16																	89341552		2196	4298	6494	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89341552C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7518G>A	16.37:g.89341552C>T						ANKRD11_uc002fmy.1_Silent_p.R2506R	p.R2506R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	7979	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2506					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7518G>A	CCDS32513.1																																																																																				0.662	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
CCDC42	146849	broad.mit.edu	37	17	8638565	8638565	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr17:8638565C>T	ENST00000293845.3	-	6	948	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CCDC42_ENST00000539522.2_Missense_Mutation_p.R167H	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	241										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTGCGCCCAGCGAGATTCCTG	0.562																																						uc002gln.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(721-723)cGc>cAc		Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.							116.0	94.0	101.0					17																	8638565		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638565C>T	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.722G>A	17.37:g.8638565C>T	ENSP00000293845:p.Arg241His					CCDC42_uc002glo.3_Missense_Mutation_p.R167H	p.R241H	NM_144681	NP_653282	Q96M95	CCD42_HUMAN			5	949	-			241					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.722G>A	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267726	0.59540	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.24151	1.89;1.87	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000022	T	0.24122	0.0584	L	0.53249	1.67	0.32818	D	0.502331	D	0.54047	0.964	B	0.35607	0.206	T	0.43410	-0.9393	10	0.44086	T	0.13	-16.8373	17.3291	0.87258	0.0:1.0:0.0:0.0	.	241	Q96M95	CCD42_HUMAN	H	241;167	ENSP00000293845:R241H;ENSP00000444359:R167H	ENSP00000293845:R241H	R	-	2	0	CCDC42	8579290	0.996000	0.38824	1.000000	0.80357	0.975000	0.68041	0.970000	0.29383	2.633000	0.89246	0.563000	0.77884	CGC		0.562	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681	
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						uc002ile.4																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1378-1380)ctafs		Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	p.L460fs	NM_001114091	NP_001107563	P30260	CDC27_HUMAN			10	1506	-			454	Missing (in Ref. 1; AAA60471).				G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1379delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CDC27	996	broad.mit.edu	37	17	45247352	45247352	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr17:45247352T>C	ENST00000066544.3	-	4	401	c.308A>G	c.(307-309)cAt>cGt	p.H103R	CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Missense_Mutation_p.H103R|CDC27_ENST00000527547.1_Missense_Mutation_p.H103R|CDC27_ENST00000446365.2_Missense_Mutation_p.H42R	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	103					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATATCATCATGGCTTTTCTG	0.308																																						uc002ile.4																			0		p.S102S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(307-309)cAt>cGt		Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.							107.0	114.0	112.0					17																	45247352		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45247352T>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.308A>G	17.37:g.45247352T>C	ENSP00000066544:p.His103Arg					CDC27_uc002ild.4_Missense_Mutation_p.H103R|CDC27_uc002ilf.4_Missense_Mutation_p.H103R|CDC27_uc010wkp.2_Missense_Mutation_p.H42R|CDC27_uc010wkq.1_Non-coding_Transcript	p.H103R	NM_001114091	NP_001107563	P30260	CDC27_HUMAN			3	435	-			103					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.308A>G	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.69|15.69	2.908816|2.908816	0.52439|0.52439	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866|ENST00000533415	T;T;T;T;T|.	0.69306|.	-0.39;-0.38;0.08;-0.39;0.75|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Tetratricopeptide-like helical (1);|.	0.231590|.	0.46145|.	D|.	0.000313|.	T|T	0.41926|0.41926	0.1180|0.1180	N|N	0.08118|0.08118	0|0	0.44188|0.44188	D|D	0.997004|0.997004	B;B;B;B|.	0.15141|.	0.006;0.005;0.012;0.003|.	B;B;B;B|.	0.08055|.	0.001;0.002;0.003;0.001|.	T|T	0.49698|0.49698	-0.8912|-0.8912	10|6	0.25751|0.52906	T|T	0.34|0.07	-28.4436|-28.4436	13.5832|13.5832	0.61915|0.61915	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	42;103;103;103|.	B4DL80;G5EA36;G3V1C4;P30260|.	.;.;.;CDC27_HUMAN|.	R|V	103;103;42;103;103|54	ENSP00000066544:H103R;ENSP00000434614:H103R;ENSP00000392802:H42R;ENSP00000437339:H103R;ENSP00000432105:H103R|.	ENSP00000066544:H103R|ENSP00000432211:M54V	H|M	-|-	2|1	0|0	CDC27|CDC27	42602351|42602351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.905000|7.905000	0.87416|0.87416	2.152000|2.152000	0.67230|0.67230	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
ESCO1	114799	broad.mit.edu	37	18	19154087	19154087	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr18:19154087C>T	ENST00000269214.5	-	4	1655	c.718G>A	c.(718-720)Gtg>Atg	p.V240M		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	240					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GTTACAGGCACAGGTTTCGTT	0.418																																						uc002kth.1																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(718-720)Gtg>Atg		Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.							222.0	215.0	217.0					18																	19154087		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154087C>T	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.718G>A	18.37:g.19154087C>T	ENSP00000269214:p.Val240Met					ESCO1_uc002kti.1_Non-coding_Transcript	p.V240M	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			3	1652	-			240					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.718G>A	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851297	0.32699	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.62788	0.0;1.53	5.38	4.5	0.54988	.	0.232490	0.29932	N	0.010823	T	0.60932	0.2307	L	0.50333	1.59	0.31709	N	0.639704	P	0.41313	0.745	B	0.43916	0.436	T	0.66052	-0.6019	10	0.31617	T	0.26	-5.1413	14.4721	0.67523	0.0:0.8532:0.1468:0.0	.	240	Q5FWF5	ESCO1_HUMAN	M	240	ENSP00000269214:V240M;ENSP00000372763:V240M	ENSP00000269214:V240M	V	-	1	0	ESCO1	17408085	0.977000	0.34250	0.998000	0.56505	0.640000	0.38277	1.777000	0.38604	1.273000	0.44346	0.655000	0.94253	GTG		0.418	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
NETO1	81832	broad.mit.edu	37	18	70450913	70450913	+	Splice_Site	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr18:70450913G>A	ENST00000327305.6	-	7	1525	c.868C>T	c.(868-870)Cct>Tct	p.P290S	NETO1_ENST00000299430.2_Splice_Site_p.P289S|NETO1_ENST00000583169.1_Splice_Site_p.P290S	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	290					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATCTTACGTTCTTGAAAG	0.458																																						uc002lkw.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.e7+1		Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.							121.0	109.0	113.0					18																	70450913		2203	4300	6503	SO:0001630	splice_region_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70450913G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.868+1C>T	18.37:g.70450913G>A						NETO1_uc002lky.2_Splice_Site_p.P290_splice	p.P290_splice	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	1152	-		Esophageal squamous(42;0.129)	290					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.868_splice	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926915	0.92319	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.21734	2.0;1.99	5.54	5.54	0.83059	CUB (1);	0.000000	0.56097	D	0.000030	T	0.44477	0.1295	L	0.55481	1.735	0.80722	D	1	D;P	0.89917	1.0;0.91	D;P	0.87578	0.998;0.464	T	0.06356	-1.0831	9	.	.	.	-14.4007	19.8487	0.96730	0.0:0.0:1.0:0.0	.	289;290	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	S	290;289	ENSP00000313088:P290S;ENSP00000299430:P289S	.	P	-	1	0	NETO1	68601893	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.748000	0.94277	0.650000	0.86243	CCT		0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	Missense_Mutation
MUC16	94025	broad.mit.edu	37	19	9088222	9088222	+	Missense_Mutation	SNP	G	G	A	rs145987902	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:9088222G>A	ENST00000397910.4	-	1	3796	c.3593C>T	c.(3592-3594)aCg>aTg	p.T1198M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1198	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						CAAGGAAGTCGTGGAAGGTAA	0.473													g|||	3	0.000599042	0.0015	0.0014	5008	,	,		23336	0.0		0.0	False		,,,				2504	0.0					uc002mkp.3																			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.(3592-3594)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		G	MET/THR	4,4228		0,4,2112	186.0	181.0	182.0		3593	-1.4	0.0	19	dbSNP_134	182	0,8456		0,0,4228	no	missense	MUC16	NM_024690.2	81	0,4,6340	AA,AG,GG		0.0,0.0945,0.0315	benign	1198/14508	9088222	4,12684	2116	4228	6344	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088222G>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.3593C>T	19.37:g.9088222G>A	ENSP00000381008:p.Thr1198Met						p.T1198M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	3797	-			1198			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3593C>T	CCDS54212.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	g	0.028	-1.357287	0.01245	9.45E-4	0.0	ENSG00000181143	ENST00000397910	T	0.02579	4.24	0.712	-1.42	0.08913	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.47611	-0.9104	7	0.87932	D	0	.	.	.	.	.	1198	B5ME49	.	M	1198	ENSP00000381008:T1198M	ENSP00000381008:T1198M	T	-	2	0	MUC16	8949222	0.000000	0.05858	0.006000	0.13384	0.062000	0.15995	-1.516000	0.02250	-1.493000	0.01835	-0.979000	0.02580	ACG		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
COL5A3	50509	broad.mit.edu	37	19	10088375	10088375	+	Silent	SNP	G	G	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:10088375G>T	ENST00000264828.3	-	42	3106	c.3021C>A	c.(3019-3021)ggC>ggA	p.G1007G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1007	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACCAGGGGAGCCCTGAGAAC	0.572																																						uc002mmq.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3019-3021)ggC>ggA		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.																																				SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10088375G>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3021C>A	19.37:g.10088375G>T							p.G1007G	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		41	3107	-			1007			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.3021C>A	CCDS12222.1																																																																																				0.572	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
CPAMD8	27151	broad.mit.edu	37	19	17039895	17039895	+	Missense_Mutation	SNP	C	C	T	rs374273186		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:17039895C>T	ENST00000443236.1	-	24	3173	c.3142G>A	c.(3142-3144)Gtc>Atc	p.V1048I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1001						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1048I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCCCCAGGACGATCTCGATC	0.607																																						uc002nfb.3																			1	Substitution - Missense(1)	p.V1048I(2)	large_intestine(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3142-3144)Gtc>Atc		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.		C	ILE/VAL	0,4038		0,0,2019	45.0	47.0	46.0		3142	2.5	0.0	19		46	1,8371		0,1,4185	no	missense	CPAMD8	NM_015692.2	29	0,1,6204	TT,TC,CC		0.0119,0.0,0.0081	probably-damaging	1048/1933	17039895	1,12409	2019	4186	6205	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039895C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3142G>A	19.37:g.17039895C>T	ENSP00000402505:p.Val1048Ile						p.V1048I	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			23	3174	-			1001					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.3142G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512271	0.44660	0.0	1.19E-4	ENSG00000160111	ENST00000291440	.	.	.	3.51	2.46	0.29980	Farnesoic acid O-methyl transferase (1);	0.000000	0.53938	U	0.000054	T	0.63733	0.2536	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56715	-0.7933	9	0.23302	T	0.38	.	10.3797	0.44104	0.0:0.9014:0.0:0.0986	.	1001	Q8IZJ3	CPMD8_HUMAN	I	1048	.	ENSP00000291440:V1048I	V	-	1	0	CPAMD8	16900895	1.000000	0.71417	0.041000	0.18516	0.044000	0.14063	6.445000	0.73456	0.476000	0.27440	0.655000	0.94253	GTC		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
ZNF181	339318	broad.mit.edu	37	19	35232834	35232839	+	In_Frame_Del	DEL	ATATAA	ATATAA	-			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:35232834_35232839delATATAA	ENST00000492450.1	+	4	1637_1642	c.1548_1553delATATAA	c.(1546-1554)ccatataaa>cca	p.YK517del	ZNF181_ENST00000459757.2_In_Frame_Del_p.YK516del|ZNF181_ENST00000392232.3_In_Frame_Del_p.YK561del			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	517					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAGAAAAGCCATATAAATGTAATGAG	0.388																																						uc002nvu.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1546-1554)ccatataaa>cca		Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232834_35232839delATATAA	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1548_1553delATATAA	19.37:g.35232834_35232839delATATAA	ENSP00000420727:p.Tyr517_Lys518del					ZNF181_uc010xsb.1_In_Frame_Del_p.YK516del|ZNF181_uc010xsc.1_In_Frame_Del_p.YK452del	p.YK517del	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		3	2011_2016	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		517					B7ZKX3|Q49A75	In_Frame_Del	DEL	ENST00000492450.1	37	c.1548_1553delATATAA	CCDS32990.2																																																																																				0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997	
UPK1A	11045	broad.mit.edu	37	19	36159540	36159540	+	Missense_Mutation	SNP	G	G	A	rs111275297		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:36159540G>A	ENST00000222275.2	+	2	269	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.R90Q	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	90					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGCCGCCGGTCCATGGTC	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		10379	0.0		0.0	False		,,,				2504	0.0					uc010eeh.3																			0				breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(268-270)cGg>cAg		Homo sapiens uroplakin 1A (UPK1A), mRNA.		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	50.0	39.0	42.0		269	5.3	1.0	19	dbSNP_132	42	1,8599	1.2+/-3.3	0,1,4299	no	missense	UPK1A	NM_007000.2	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	90/259	36159540	2,13004	2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36159540G>A	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.269G>A	19.37:g.36159540G>A	ENSP00000222275:p.Arg90Gln					UPK1A_uc002oaw.3_Missense_Mutation_p.R90Q|BC007817_uc002oax.1_Missense_Mutation_p.R3W	p.R90Q			O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	269	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		90					Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.269G>A	CCDS12470.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468457	0.84533	2.27E-4	1.16E-4	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.79554	-1.28;-1.28	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	D	0.88235	0.6382	M	0.63843	1.955	0.46874	D	0.999232	D;D	0.71674	0.998;0.998	D;D	0.79108	0.986;0.992	D	0.88768	0.3262	10	0.66056	D	0.02	0.932	16.8749	0.86050	0.0:0.0:1.0:0.0	.	90;90	O00322-2;O00322	.;UPK1A_HUMAN	Q	90	ENSP00000222275:R90Q;ENSP00000368298:R90Q	ENSP00000222275:R90Q	R	+	2	0	UPK1A	40851380	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.641000	0.54360	2.659000	0.90383	0.561000	0.74099	CGG		0.592	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3		
C5AR2	27202	broad.mit.edu	37	19	47844750	47844750	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:47844750C>T	ENST00000595464.1	+	2	912	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	C5AR2_ENST00000600626.1_Missense_Mutation_p.R232W|C5AR2_ENST00000257267.2_Missense_Mutation_p.R232W	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	232					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										CCGACGCTGCCGGCCGCTGGG	0.672																																						uc002pgk.1																			0		p.R232R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(694-696)Cgg>Tgg		Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.																																				SO:0001583	missense	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844750C>T	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.694C>T	19.37:g.47844750C>T	ENSP00000472620:p.Arg232Trp					GPR77_uc010ela.1_Missense_Mutation_p.R232W|GPR77_uc021uwn.1_Missense_Mutation_p.R232W	p.R232W	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	1	765	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	232					B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.694C>T	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	T	9.305	1.054007	0.19907	.	.	ENSG00000134830	ENST00000257267	T	0.37235	1.21	4.11	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.322570	0.24764	N	0.035791	T	0.13372	0.0324	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12837	-1.0532	10	0.35671	T	0.21	.	2.4868	0.04601	0.303:0.2493:0.0:0.4477	.	232	Q9P296	C5ARL_HUMAN	W	232	ENSP00000257267:R232W	ENSP00000257267:R232W	R	+	1	2	GPR77	52536590	0.000000	0.05858	0.084000	0.20598	0.013000	0.08279	-0.238000	0.08977	0.240000	0.21263	-0.817000	0.03123	CGG		0.672	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485	
ELSPBP1	64100	broad.mit.edu	37	19	48519291	48519291	+	Missense_Mutation	SNP	C	C	T	rs145971035	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:48519291C>T	ENST00000339841.2	+	4	528	c.350C>T	c.(349-351)aCg>aTg	p.T117M	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	117	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TTCTGTGAAACGAATGGTGAG	0.552																																						uc002pht.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(349-351)aCg>aTg		Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	125.0	106.0	113.0		350	-4.2	0.0	19	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	ELSPBP1	NM_022142.4	81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	117/224	48519291	3,13003	2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48519291C>T	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.350C>T	19.37:g.48519291C>T	ENSP00000340660:p.Thr117Met						p.T117M	NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	3	528	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	117			Fibronectin type-II 2.		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.350C>T	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.087025	0.07097	4.54E-4	1.16E-4	ENSG00000169393	ENST00000339841	T	0.09911	2.93	2.89	-4.15	0.03881	Fibronectin, type II, collagen-binding (2);Kringle-like fold (2);	2.656580	0.01613	N	0.022600	T	0.12732	0.0309	M	0.70595	2.14	0.09310	N	1	B	0.22746	0.074	B	0.15052	0.012	T	0.31916	-0.9926	10	0.49607	T	0.09	.	4.0947	0.09985	0.1813:0.2469:0.0:0.5718	.	117	Q96BH3	ESPB1_HUMAN	M	117	ENSP00000340660:T117M	ENSP00000340660:T117M	T	+	2	0	ELSPBP1	53211103	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-1.809000	0.01731	-0.914000	0.03827	0.543000	0.68304	ACG		0.552	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1		
DKKL1	27120	broad.mit.edu	37	19	49867863	49867863	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:49867863G>A	ENST00000221498.2	+	2	440	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	TEAD2_ENST00000593945.1_5'Flank|TEAD2_ENST00000311227.2_5'Flank|TEAD2_ENST00000539846.1_5'Flank|DKKL1_ENST00000594268.1_Intron|TEAD2_ENST00000601519.1_5'Flank	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	12					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CCCGCAAGGCGGCATCTGCTG	0.672																																						uc002pnk.3																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(34-36)cGg>cAg		Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.							42.0	36.0	38.0					19																	49867863		2203	4300	6503	SO:0001583	missense	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49867863G>A	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.35G>A	19.37:g.49867863G>A	ENSP00000221498:p.Arg12Gln					TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Missense_Mutation_p.R12Q	p.R12Q	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	1	249	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	12						Missense_Mutation	SNP	ENST00000221498.2	37	c.35G>A	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	G	9.788	1.177026	0.21787	.	.	ENSG00000104901	ENST00000221498	T	0.15487	2.42	3.25	-0.379	0.12493	.	3.146000	0.01122	N	0.005809	T	0.09202	0.0227	N	0.22421	0.69	0.09310	N	1	P	0.37708	0.606	B	0.26202	0.067	T	0.18618	-1.0331	10	0.25106	T	0.35	2.7938	3.9789	0.09486	0.1234:0.0:0.4452:0.4314	.	12	Q9UK85	DKKL1_HUMAN	Q	12	ENSP00000221498:R12Q	ENSP00000221498:R12Q	R	+	2	0	DKKL1	54559675	1.000000	0.71417	0.006000	0.13384	0.007000	0.05969	2.633000	0.46519	0.025000	0.15241	-0.224000	0.12420	CGG		0.672	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419	
SIGLECL1	284369	broad.mit.edu	37	19	51768774	51768774	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:51768774T>A	ENST00000316401.7	+	3	556	c.175T>A	c.(175-177)Tcc>Acc	p.S59T	SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	417	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										CCAAGTGACTTCCACCATGCT	0.567																																						uc002pwb.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						c.(175-177)Tcc>Acc		Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.							64.0	57.0	60.0					19																	51768774		2203	4300	6503	SO:0001583	missense	284369					integral to membrane		g.chr19:51768774T>A	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.175T>A	19.37:g.51768774T>A	ENSP00000321249:p.Ser59Thr					C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	p.S59T	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN			2	556	+			59					Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	c.175T>A	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	T	9.990	1.230626	0.22542	.	.	ENSG00000179213	ENST00000316401	T	0.42513	0.97	3.81	2.79	0.32731	Immunoglobulin-like fold (1);	0.211814	0.24117	N	0.041382	T	0.36193	0.0958	M	0.73217	2.22	0.09310	N	1	P	0.46784	0.884	B	0.39531	0.302	T	0.26710	-1.0095	10	0.38643	T	0.18	-6.7334	5.7902	0.18357	0.0:0.1245:0.0:0.8755	.	59	Q8N7X8	CS075_HUMAN	T	59	ENSP00000321249:S59T	ENSP00000321249:S59T	S	+	1	0	C19orf75	56460586	0.038000	0.19896	0.009000	0.14445	0.010000	0.07245	1.854000	0.39368	0.626000	0.30322	0.528000	0.53228	TCC		0.567	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635	
KCNH7	90134	broad.mit.edu	37	2	163253351	163253351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:163253351G>A	ENST00000332142.5	-	11	2611	c.2512C>T	c.(2512-2514)Cga>Tga	p.R838*		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	838					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AAGTCTTCTCGCTGAATCTTA	0.383																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.2																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2512-2514)Cga>Tga		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	Ibutilide(DB00308)						89.0	88.0	88.0					2																	163253351		2203	4299	6502	SO:0001587	stop_gained	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163253351G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2512C>T	2.37:g.163253351G>A	ENSP00000331727:p.Arg838*						p.R838*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			10	2741	-			838					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	c.2512C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	38	7.230836	0.98150	.	.	ENSG00000184611	ENST00000332142	.	.	.	5.67	2.64	0.31445	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1544	0.72730	0.0:0.0:0.4081:0.5919	.	.	.	.	X	838	.	ENSP00000331727:R838X	R	-	1	2	KCNH7	162961597	0.997000	0.39634	0.999000	0.59377	0.854000	0.48673	0.937000	0.28951	0.219000	0.20840	-0.485000	0.04761	CGA		0.383	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
TTC21B	79809	broad.mit.edu	37	2	166799848	166799848	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:166799848G>T	ENST00000243344.7	-	5	570	c.433C>A	c.(433-435)Cac>Aac	p.H145N	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	145					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTCAAAACGTGTCCCTGTAAA	0.313																																						uc002udk.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(433-435)Cac>Aac		Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.							70.0	63.0	65.0					2																	166799848		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166799848G>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.433C>A	2.37:g.166799848G>T	ENSP00000243344:p.His145Asn					TTC21B_uc002udl.3_Missense_Mutation_p.H145N|LOC100506134_uc021vsa.1_Intron|LOC100506134_uc002udm.2_Intron	p.H145N	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			4	566	-			145					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.433C>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117539	0.08881	.	.	ENSG00000123607	ENST00000243344	T	0.62639	0.01	5.32	4.44	0.53790	Tetratricopeptide-like helical (1);	0.803361	0.11618	N	0.546073	T	0.38348	0.1037	N	0.08118	0	0.40237	D	0.977918	B;B	0.15473	0.004;0.013	B;B	0.04013	0.0;0.001	T	0.27191	-1.0081	10	0.35671	T	0.21	1.8333	4.8195	0.13383	0.1865:0.1943:0.6192:0.0	.	145;145	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	N	145	ENSP00000243344:H145N	ENSP00000243344:H145N	H	-	1	0	TTC21B	166508094	1.000000	0.71417	0.326000	0.25389	0.114000	0.19823	4.039000	0.57325	1.231000	0.43661	-0.172000	0.13284	CAC		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	
SDPR	8436	broad.mit.edu	37	2	192700730	192700730	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:192700730G>A	ENST00000304141.4	-	2	1526	c.1197C>T	c.(1195-1197)taC>taT	p.Y399Y		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			ATGTTAGCGCGTAGCTACCCT	0.612																																						uc002utb.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(1195-1197)taC>taT		Homo sapiens serum deprivation response (SDPR), mRNA.	Phosphatidylserine(DB00144)						91.0	84.0	87.0					2																	192700730		2203	4300	6503	SO:0001819	synonymous_variant	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192700730G>A	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1197C>T	2.37:g.192700730G>A							p.Y399Y	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	1552	-			399						Silent	SNP	ENST00000304141.4	37	c.1197C>T	CCDS2313.1																																																																																				0.612	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
NYAP2	57624	broad.mit.edu	37	2	226447389	226447389	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:226447389C>T	ENST00000272907.6	+	4	1669	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	419	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCCCCGTCTACGCTGTACCGA	0.662																																						uc002voe.2																			0											c.(1255-1257)aCg>aTg		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.							24.0	30.0	28.0					2																	226447389		2031	4164	6195	SO:0001583	missense	57624							g.chr2:226447389C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1256C>T	2.37:g.226447389C>T	ENSP00000272907:p.Thr419Met					NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.T189M	p.T419M	NM_020864	NP_065915	Q9P242	K1486_HUMAN			3	1431	+			419			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1256C>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240162	0.39598	.	.	ENSG00000144460	ENST00000272907	T	0.32272	1.46	5.19	5.19	0.71726	.	0.172100	0.49916	D	0.000123	T	0.47116	0.1428	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	P	0.59761	0.863	T	0.44513	-0.9323	10	0.62326	D	0.03	-11.2807	18.7321	0.91739	0.0:1.0:0.0:0.0	.	419	Q9P242	K1486_HUMAN	M	419	ENSP00000272907:T419M	ENSP00000272907:T419M	T	+	2	0	KIAA1486	226155633	0.990000	0.36364	0.311000	0.25182	0.468000	0.32798	2.929000	0.48916	2.415000	0.81967	0.563000	0.77884	ACG		0.662	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
SIGLEC1	6614	broad.mit.edu	37	20	3674185	3674185	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:3674185G>A	ENST00000344754.4	-	13	3416	c.3417C>T	c.(3415-3417)gtC>gtT	p.V1139V	SIGLEC1_ENST00000202578.4_Silent_p.V1139V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1139	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCTGACTGTGACGTTGGGCA	0.657																																						uc002wja.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3415-3417)gtC>gtT		Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.							58.0	48.0	52.0					20																	3674185		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3674185G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""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"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3417C>T	20.37:g.3674185G>A						SIGLEC1_uc002wiz.4_Silent_p.V1139V|SIGLEC1_uc002wjb.1_5'Flank	p.V1139V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			12	3417	-			1139			Ig-like C2-type 11.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.3417C>T	CCDS13060.1																																																																																				0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	
SRC	6714	broad.mit.edu	37	20	36026230	36026230	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:36026230C>G	ENST00000373578.2	+	9	1181	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	SRC_ENST00000360723.4_Missense_Mutation_p.Q284E|SRC_ENST00000358208.4_Missense_Mutation_p.Q278E|SRC_ENST00000373567.2_Missense_Mutation_p.Q278E|SRC_ENST00000373558.2_Missense_Mutation_p.Q284E|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000445403.1_Missense_Mutation_p.Q278E	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CAAGCTGGGCCAGGGCTGCTT	0.697																																						uc002xgx.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(832-834)Cag>Gag		Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	Dasatinib(DB01254)						36.0	41.0	39.0					20																	36026230		2202	4300	6502	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36026230C>G	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.832C>G	20.37:g.36026230C>G	ENSP00000362680:p.Gln278Glu					SRC_uc002xgy.3_Missense_Mutation_p.Q278E	p.Q278E	NM_005417	NP_938033	P12931	SRC_HUMAN			8	1281	+		Myeloproliferative disorder(115;0.00878)	278			Protein kinase.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.832C>G	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005086	0.54254	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	4.36	4.36	0.52297	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76399	0.3982	N	0.03294	-0.36	0.80722	D	1	P	0.50369	0.934	D	0.65010	0.931	T	0.82333	-0.0509	10	0.59425	D	0.04	.	14.4043	0.67071	0.0:1.0:0.0:0.0	.	278	P12931	SRC_HUMAN	E	278;278;284;278;278;284	ENSP00000408503:Q278E;ENSP00000362680:Q278E;ENSP00000353950:Q284E;ENSP00000350941:Q278E;ENSP00000362668:Q278E;ENSP00000362659:Q284E	ENSP00000350941:Q278E	Q	+	1	0	SRC	35459644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.231000	0.72958	0.462000	0.41574	CAG		0.697	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417	
PTPRT	11122	broad.mit.edu	37	20	40713368	40713368	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:40713368G>T	ENST00000373187.1	-	29	4089	c.4090C>A	c.(4090-4092)Cag>Aag	p.Q1364K	PTPRT_ENST00000373184.1_Missense_Mutation_p.Q1374K|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q1363K|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q1367K|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q1373K|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q1354K|PTPRT_ENST00000373198.4_Missense_Mutation_p.Q1383K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1364	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACTGCTCCTGCCACTTCTCC	0.597																																						uc002xkg.3																			0		p.A1364A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(4090-4092)Cag>Aag		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.							45.0	54.0	51.0					20																	40713368		2044	4176	6220	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40713368G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4090C>A	20.37:g.40713368G>T	ENSP00000362283:p.Gln1364Lys					PTPRT_uc010ggj.3_Missense_Mutation_p.Q1383K|PTPRT_uc010ggi.3_Missense_Mutation_p.Q567K	p.Q1364K	NM_007050	NP_008981	O14522	PTPRT_HUMAN			28	4274	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1364			Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.4090C>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101775	0.56183	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.132994	0.52532	D	0.000067	D	0.83179	0.5198	M	0.64676	1.99	0.80722	D	1	B;B	0.24651	0.108;0.063	B;B	0.25759	0.061;0.063	T	0.80284	-0.1447	10	0.72032	D	0.01	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	1386;1364	O14522-1;O14522	.;PTPRT_HUMAN	K	1363;1364;1367;1373;1386;1374;1354	ENSP00000362286:Q1363K;ENSP00000362283:Q1364K;ENSP00000362289:Q1367K;ENSP00000348408:Q1373K;ENSP00000362294:Q1386K;ENSP00000362280:Q1374K;ENSP00000362297:Q1354K	ENSP00000348408:Q1373K	Q	-	1	0	PTPRT	40146782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.584000	0.98220	2.894000	0.99253	0.655000	0.94253	CAG		0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
DIDO1	11083	broad.mit.edu	37	20	61511189	61511189	+	Missense_Mutation	SNP	C	C	T	rs143474883		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:61511189C>T	ENST00000266070.4	-	16	6444	c.6119G>A	c.(6118-6120)cGc>cAc	p.R2040H	DIDO1_ENST00000395343.1_Missense_Mutation_p.R2040H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2040					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCTCCCAGCGGTCCTTCCG	0.741																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.2																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6118-6120)cGc>cAc		Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.		C	HIS/ARG,HIS/ARG	0,3926		0,0,1963	27.0	34.0	32.0		6119,6119	4.0	0.6	20	dbSNP_134	32	1,7757		0,1,3878	no	missense,missense	DIDO1	NM_001193369.1,NM_033081.2	29,29	0,1,5841	TT,TC,CC		0.0129,0.0,0.0086	probably-damaging,probably-damaging	2040/2241,2040/2241	61511189	1,11683	1963	3879	5842	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511189C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6119G>A	20.37:g.61511189C>T	ENSP00000266070:p.Arg2040His					DIDO1_uc002yds.2_Missense_Mutation_p.R2040H	p.R2040H	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN			15	6431	-	Breast(26;5.68e-08)		2040					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6119G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591756	0.46214	0.0	1.29E-4	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08546	3.08;3.08	4.96	4.01	0.46588	.	0.000000	0.40144	N	0.001165	T	0.07863	0.0197	L	0.54323	1.7	0.18873	N	0.999985	P	0.49783	0.928	B	0.42188	0.379	T	0.31280	-0.9949	10	0.37606	T	0.19	-13.3846	2.3097	0.04183	0.1771:0.5162:0.1488:0.1579	.	2040	Q9BTC0	DIDO1_HUMAN	H	2040	ENSP00000266070:R2040H;ENSP00000378752:R2040H	ENSP00000266070:R2040H	R	-	2	0	DIDO1	60981634	0.090000	0.21635	0.626000	0.29213	0.685000	0.39939	1.324000	0.33712	1.066000	0.40716	0.561000	0.74099	CGC		0.741	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
KRTAP10-12	386685	broad.mit.edu	37	21	46117103	46117103	+	5'UTR	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr21:46117103C>T	ENST00000400365.3	+	0	17				TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12							keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						ACCCCCAGCACGGCTGCATCC	0.627																																						uc002zfw.1																			0				large_intestine(1)|lung(8)	9								Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.							82.0	88.0	86.0					21																	46117103		2167	4268	6435	SO:0001623	5_prime_UTR_variant	386685					keratin filament		g.chr21:46117103C>T	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.-14C>T	21.37:g.46117103C>T						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron		NM_198699	NP_941972	P60413	KR10C_HUMAN			0		+								B2RPA3	Translation_Start_Site	SNP	ENST00000400365.3	37		CCDS42967.1																																																																																				0.627	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699	
PRAME	23532	broad.mit.edu	37	22	22891015	22891015	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:22891015G>A	ENST00000398741.1	-	6	1310	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	PRAME_ENST00000405655.3_Missense_Mutation_p.S335L|PRAME_ENST00000539862.1_Missense_Mutation_p.S319L|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000398743.2_Missense_Mutation_p.S335L|PRAME_ENST00000543184.1_Missense_Mutation_p.S335L|PRAME_ENST00000424204.2_Missense_Mutation_p.S319L|PRAME_ENST00000402697.1_Missense_Mutation_p.S335L	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	335					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATCCCCTTCCGAAAGCCGGCA	0.542																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1003-1005)tCg>tTg		Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.							128.0	124.0	126.0					22																	22891015		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22891015G>A	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1004C>T	22.37:g.22891015G>A	ENSP00000381726:p.Ser335Leu					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.S319L|PRAME_uc010gtr.3_Missense_Mutation_p.S335L|PRAME_uc002zwg.3_Missense_Mutation_p.S335L|PRAME_uc002zwh.3_Missense_Mutation_p.S335L|PRAME_uc002zwi.3_Missense_Mutation_p.S335L|PRAME_uc002zwj.3_Missense_Mutation_p.S335L|PRAME_uc002zwk.3_Missense_Mutation_p.S335L	p.S335L	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	1160	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	335					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.1004C>T	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	G	3.791	-0.043580	0.07452	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71	3.89	0.326	0.15908	.	0.702598	0.13278	N	0.399948	T	0.10766	0.0263	L	0.52011	1.625	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37079	-0.9721	10	0.19590	T	0.45	.	6.2728	0.20963	0.5714:0.0:0.4286:0.0	.	335	P78395	PRAME_HUMAN	L	335;335;335;335;319;335;319	ENSP00000381728:S335L;ENSP00000445675:S335L;ENSP00000381726:S335L;ENSP00000384343:S335L;ENSP00000445097:S319L;ENSP00000385198:S335L;ENSP00000407342:S319L	ENSP00000381726:S335L	S	-	2	0	PRAME	21221015	0.002000	0.14202	0.019000	0.16419	0.007000	0.05969	-0.134000	0.10436	0.118000	0.18165	0.655000	0.94253	TCG		0.542	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953	
ELFN2	114794	broad.mit.edu	37	22	37769438	37769438	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:37769438G>A	ENST00000402918.2	-	3	2922	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	713					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TACAGGGCGGGAAAGCTGTGC	0.711																																						uc003asq.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(2137-2139)Ccc>Tcc		Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.							26.0	26.0	26.0					22																	37769438		2197	4297	6494	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769438G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2137C>T	22.37:g.37769438G>A	ENSP00000385277:p.Pro713Ser					ELFN2_uc021wph.1_Missense_Mutation_p.P713S	p.P713S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			2	2923	-	Melanoma(58;0.0574)		713					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.2137C>T	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878816	0.91740	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.77358	-1.09;-1.09	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.86481	0.5943	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88061	0.2794	10	0.87932	D	0	-36.2605	18.1427	0.89644	0.0:0.0:1.0:0.0	.	713	Q5R3F8	PPR29_HUMAN	S	713	ENSP00000300147:P713S;ENSP00000385277:P713S	ENSP00000300147:P713S	P	-	1	0	ELFN2	36099384	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.503000	0.97984	2.265000	0.75225	0.561000	0.74099	CCC		0.711	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906	
ENTHD1	150350	broad.mit.edu	37	22	40283672	40283672	+	Silent	SNP	G	G	A	rs146928757	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:40283672G>A	ENST00000325157.6	-	2	331	c.81C>T	c.(79-81)aaC>aaT	p.N27N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	27	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.N27N(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCAAGGGTCGTTAGAAGTTG	0.398																																						uc003ayg.3																			1	Substitution - coding silent(1)	p.N27N(2)	ovary(1)	breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32						c.(79-81)aaC>aaT		Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.		G		0,4406		0,0,2203	98.0	98.0	98.0		81	2.4	1.0	22	dbSNP_134	98	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ENTHD1	NM_152512.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		27/608	40283672	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	150350							g.chr22:40283672G>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.81C>T	22.37:g.40283672G>A							p.N27N	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			1	332	-	Melanoma(58;0.0749)		27			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	c.81C>T	CCDS13998.1																																																																																				0.398	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512	
CYP2D6	1565	broad.mit.edu	37	22	42523567	42523567	+	Missense_Mutation	SNP	T	T	C	rs61736517	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:42523567T>C	ENST00000360608.5	-	7	1169	c.1055A>G	c.(1054-1056)cAc>cGc	p.H352R	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	352					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GTAGGGCATGTGAGCCTGGTC	0.592																																						uc003bce.3																			0		p.L352L(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1054-1056)cAc>cGc		Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.							99.0	76.0	84.0					22																	42523567		2203	4300	6503	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42523567T>C	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1055A>G	22.37:g.42523567T>C	ENSP00000353820:p.His352Arg					LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Missense_Mutation_p.H46R|CYP2D6_uc003bcf.3_Missense_Mutation_p.H301R	p.H352R	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			6	1145	-			352					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.1055A>G	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.874767	0.00542	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.78003	-1.14;-1.14;5.16	4.93	-5.98	0.02220	.	0.762168	0.12266	N	0.484237	T	0.44371	0.1290	N	0.03209	-0.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.49799	-0.8901	10	0.02654	T	1	.	9.7516	0.40478	0.0989:0.2372:0.0:0.6639	.	352;301;352	C1ID54;Q6NXU8;Q6NWU0	.;.;.	R	352;352;298;301;301	ENSP00000353820:H352R;ENSP00000374620:H352R;ENSP00000351927:H301R	ENSP00000351927:H301R	H	-	2	0	CYP2D6	40853511	0.000000	0.05858	0.010000	0.14722	0.037000	0.13140	-0.542000	0.06091	-1.267000	0.02443	-1.442000	0.01069	CAC		0.592	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
ARSA	410	broad.mit.edu	37	22	51063597	51063597	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:51063597G>A	ENST00000547307.1	-	8	1905	c.1500C>T	c.(1498-1500)tgC>tgT	p.C500C	ARSA_ENST00000453344.2_Silent_p.C416C|ARSA_ENST00000216124.5_Silent_p.C502C|ARSA_ENST00000395619.3_Silent_p.C502C|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000547805.1_Silent_p.C500C|ARSA_ENST00000356098.5_Silent_p.C502C|ARSA_ENST00000395621.3_Silent_p.C502C			P15289	ARSA_HUMAN	arylsulfatase A	500					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CTGGGCAATGGCAGCAAGCTG	0.701																																						uc003bna.4																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9						c.(1246-1248)tgC>tgT		Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	Micafungin(DB01141)						7.0	9.0	8.0					22																	51063597		2168	4253	6421	SO:0001819	synonymous_variant	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51063597G>A	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.1500C>T	22.37:g.51063597G>A						ARSA_uc021wsd.1_Silent_p.C502C|ARSA_uc021wse.1_Silent_p.C502C|ARSA_uc021wsf.1_Silent_p.C502C|ARSA_uc003bmz.4_Silent_p.C500C	p.C416C	NM_001085428	NP_001078897	P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	1510	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	500					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	37	c.1248C>T																																																																																					0.701	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487	
DNAH12	201625	broad.mit.edu	37	3	57488121	57488121	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:57488121C>A	ENST00000351747.2	-	10	1352	c.1172G>T	c.(1171-1173)tGg>tTg	p.W391L	DNAH12_ENST00000311202.6_Missense_Mutation_p.W391L|DNAH12_ENST00000389536.4_Missense_Mutation_p.W391L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	391	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATCAACAGCCCAGTGTAACAC	0.393																																						uc003dit.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(1171-1173)tGg>tTg		Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.							253.0	221.0	232.0					3																	57488121		2203	4300	6503	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57488121C>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1172G>T	3.37:g.57488121C>A	ENSP00000295937:p.Trp391Leu					DNAH12_uc003diu.2_Missense_Mutation_p.W391L	p.W391L	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			9	1353	-			391			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.1172G>T		.	.	.	.	.	.	.	.	.	.	C	14.65	2.597515	0.46318	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.20881	2.21;2.04;3.65;3.11	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.35970	0.0950	M	0.74258	2.255	0.80722	D	1	P;P	0.52463	0.675;0.953	B;P	0.50109	0.284;0.631	T	0.07139	-1.0788	10	0.27082	T	0.32	.	17.3645	0.87359	0.0:1.0:0.0:0.0	.	391;391	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	L	391	ENSP00000295937:W391L;ENSP00000418137:W391L;ENSP00000374187:W391L;ENSP00000312554:W391L	ENSP00000312554:W391L	W	-	2	0	DNAH12	57463161	1.000000	0.71417	0.994000	0.49952	0.649000	0.38597	4.003000	0.57061	2.597000	0.87782	0.655000	0.94253	TGG		0.393	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504	
SLC9C1	285335	broad.mit.edu	37	3	111901019	111901019	+	Silent	SNP	C	C	T	rs372137369		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:111901019C>T	ENST00000305815.5	-	21	2862	c.2610G>A	c.(2608-2610)ccG>ccA	p.P870P	SLC9C1_ENST00000487372.1_Silent_p.P822P	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	870					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TATCTAGCCACGGAATATGAT	0.259																																						uc003dyu.3																			0											c.(2608-2610)ccG>ccA		Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.		C		0,4406		0,0,2203	62.0	67.0	66.0		2610	0.7	1.0	3		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A10	NM_183061.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		870/1178	111901019	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111901019C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2610G>A	3.37:g.111901019C>T						SLC9C1_uc011bhu.2_Silent_p.P133P|SLC9C1_uc010hqc.3_Silent_p.P822P	p.P870P	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			20	2832	-			870					Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	c.2610G>A	CCDS33817.1																																																																																				0.259	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
UBA5	79876	broad.mit.edu	37	3	132390695	132390695	+	Silent	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:132390695T>C	ENST00000356232.4	+	7	1726	c.654T>C	c.(652-654)ctT>ctC	p.L218L	UBA5_ENST00000494238.2_Silent_p.L162L|UBA5_ENST00000493720.2_Silent_p.L218L|UBA5_ENST00000264991.4_Silent_p.L162L|UBA5_ENST00000473651.1_Silent_p.L218L	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	218					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATATACAGCTTATAATTCCTG	0.368																																						uc003epa.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(652-654)ctT>ctC		Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA.							176.0	162.0	167.0					3																	132390695		2203	4300	6503	SO:0001819	synonymous_variant	79876				protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132390695T>C	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.654T>C	3.37:g.132390695T>C						NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Silent_p.L162L|UBA5_uc003epb.4_Silent_p.L162L	p.L218L	NM_024818	NP_938143	Q9GZZ9	UBA5_HUMAN			6	896	+			218					A6NJL3|D3DNC8|Q96ST1	Silent	SNP	ENST00000356232.4	37	c.654T>C	CCDS3076.1																																																																																				0.368	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818	
PRR23B	389151	broad.mit.edu	37	3	138739151	138739151	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:138739151G>A	ENST00000329447.5	-	1	617	c.353C>T	c.(352-354)tCg>tTg	p.S118L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	118										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGGCAGACGAGTCGTGCTG	0.632																																						uc003esy.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(352-354)tCg>tTg		Homo sapiens proline rich 23B (PRR23B), mRNA.							49.0	50.0	50.0					3																	138739151		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138739151G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.353C>T	3.37:g.138739151G>A	ENSP00000328768:p.Ser118Leu						p.S118L	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			0	618	-			118					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.353C>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	3.984	-0.005930	0.07773	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.97	-4.89	0.03103	.	2.599750	0.01665	N	0.025311	T	0.19805	0.0476	N	0.21142	0.635	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.05683	-1.0870	9	0.27082	T	0.32	.	0.8759	0.01223	0.314:0.2917:0.2465:0.1477	.	118	Q6ZRT6	PR23B_HUMAN	L	118	.	ENSP00000328768:S118L	S	-	2	0	PRR23B	140221841	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.369000	0.07533	-1.279000	0.02405	-0.657000	0.03884	TCG		0.632	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650	
B3GALNT1	8706	broad.mit.edu	37	3	160803715	160803715	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:160803715T>A	ENST00000392781.2	-	8	1575	c.828A>T	c.(826-828)ttA>ttT	p.L276F	B3GALNT1_ENST00000488170.1_Missense_Mutation_p.L276F|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.L276F|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.L276F|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.L276F|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.L276F	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	276					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TCACTTTTAATAAATTCAAAC	0.363																																						uc003fdv.3																			0				breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(826-828)ttA>ttT		Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.							49.0	49.0	49.0					3																	160803715		2203	4300	6503	SO:0001583	missense	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160803715T>A	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.828A>T	3.37:g.160803715T>A	ENSP00000376532:p.Leu276Phe					B3GALNT1_uc003fdw.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdx.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdy.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdz.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fea.3_Missense_Mutation_p.L276F|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.L276F	p.L276F	NM_033169	NP_149359	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		4	1247	-			276					D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	c.828A>T	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987405	0.53934	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.83	0.382	0.16234	.	0.099619	0.42294	D	0.000723	T	0.72195	0.3430	N	0.24115	0.695	0.30527	N	0.767875	P	0.44946	0.846	B	0.41036	0.346	T	0.70612	-0.4824	10	0.56958	D	0.05	.	7.1944	0.25845	0.0:0.4868:0.145:0.3682	.	276	O75752	B3GL1_HUMAN	F	276	ENSP00000323479:L276F;ENSP00000376530:L276F;ENSP00000376531:L276F;ENSP00000376532:L276F;ENSP00000418226:L276F;ENSP00000420163:L276F	ENSP00000323479:L276F	L	-	3	2	B3GALNT1	162286409	0.013000	0.17824	0.991000	0.47740	0.929000	0.56500	-0.469000	0.06648	0.126000	0.18424	0.459000	0.35465	TTA		0.363	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167	
MUC4	4585	broad.mit.edu	37	3	195509188	195509188	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:195509188G>A	ENST00000463781.3	-	2	9722	c.9263C>T	c.(9262-9264)cCt>cTt	p.P3088L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3088L|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAGGAAGAGGGGTGGCGTG	0.592																																						uc021xjp.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(9262-9264)cCt>cTt		Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.							15.0	12.0	13.0					3																	195509188		670	1556	2226	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195509188G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9263C>T	3.37:g.195509188G>A	ENSP00000417498:p.Pro3088Leu					MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	p.P3088L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	1	9419	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	829					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.9263C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	4.469	0.086832	0.08583	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.48	.	.	.	.	.	.	.	.	T	0.13030	0.0316	N	0.19112	0.55	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.14090	-1.0485	7	.	.	.	.	4.4372	0.11555	0.0:0.0:0.4245:0.5755	.	2960	E7ESK3	.	L	3088	ENSP00000417498:P3088L;ENSP00000420243:P3088L	.	P	-	2	0	MUC4	196993967	0.910000	0.30920	0.004000	0.12327	0.000000	0.00434	2.396000	0.44468	0.497000	0.27926	0.000000	0.15137	CCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
NCBP2	22916	broad.mit.edu	37	3	196664454	196664454	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:196664454C>T	ENST00000321256.5	-	3	419	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	NCBP2_ENST00000452404.2_Missense_Mutation_p.R91Q|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000422610.1_Missense_Mutation_p.R39Q|NCBP2_ENST00000447325.1_Missense_Mutation_p.R39Q|NCBP2_ENST00000427641.2_Missense_Mutation_p.R56Q	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	109	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		GCGAATGATTCGGTCATCCAG	0.527																																						uc003fxd.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(325-327)cGa>cAa		Homo sapiens nuclear cap binding protein subunit 2, 20kDa (NCBP2), transcript variant 1, mRNA.							122.0	109.0	113.0					3																	196664454		2203	4300	6503	SO:0001583	missense	22916				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	g.chr3:196664454C>T	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"""RNA binding motif (RRM) containing"""	7659	protein-coding gene	gene with protein product		605133	"""nuclear cap binding protein subunit 2, 20kD"""			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.326G>A	3.37:g.196664454C>T	ENSP00000326806:p.Arg109Gln					NCBP2_uc003fxb.1_Missense_Mutation_p.R39Q|NCBP2_uc011btz.1_Missense_Mutation_p.R91Q|NCBP2_uc003fxc.1_Non-coding_Transcript|NCBP2_uc003fxe.1_Missense_Mutation_p.R56Q|NCBP2_uc003fxf.3_3'UTR	p.R109Q	NM_007362	NP_031388	P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)	2	416	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		109			RRM.		B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Missense_Mutation	SNP	ENST00000321256.5	37	c.326G>A	CCDS3323.1	.	.	.	.	.	.	.	.	.	.	C	36	5.900677	0.97081	.	.	ENSG00000114503	ENST00000447325;ENST00000321256;ENST00000427641;ENST00000452404;ENST00000422610;ENST00000411704	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	4.96	4.96	0.65561	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.86556	0.5961	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	0.993;1.0;0.999	P;D;P	0.97110	0.669;1.0;0.849	D	0.86450	0.1772	10	0.52906	T	0.07	.	17.7697	0.88487	0.0:1.0:0.0:0.0	.	91;56;109	P52298-2;E9PAR5;P52298	.;.;NCBP2_HUMAN	Q	39;109;56;91;39;39	ENSP00000413518:R39Q;ENSP00000326806:R109Q;ENSP00000397619:R56Q;ENSP00000412785:R91Q;ENSP00000394105:R39Q;ENSP00000389315:R39Q	ENSP00000326806:R109Q	R	-	2	0	NCBP2	198148851	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.518000	0.81795	2.767000	0.95098	0.655000	0.94253	CGA		0.527	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362	
CSN2	1447	broad.mit.edu	37	4	70822070	70822070	+	Nonstop_Mutation	SNP	A	A	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:70822070A>G	ENST00000353151.3	-	6	690	c.679T>C	c.(679-681)Taa>Caa	p.*227Q		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AAATCTTCTTAGACCTTAAAA	0.269																																						uc003hes.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(679-681)Taa>Caa		Homo sapiens casein beta (CSN2), mRNA.							26.0	28.0	27.0					4																	70822070		2152	4239	6391	SO:0001578	stop_lost	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70822070A>G	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.679T>C	4.37:g.70822070A>G	ENSP00000341030:p.*227Gluext*14					CSN2_uc003het.4_Nonstop_Mutation_p.*226Q	p.*227Q	NM_001891	NP_001882	P05814	CASB_HUMAN			5	692	-			0					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Nonstop_Mutation	SNP	ENST00000353151.3	37	c.679T>C	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	A	9.352	1.065690	0.20067	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0011	0.41929	1.0:0.0:0.0:0.0	.	.	.	.	Q	227	.	.	X	-	1	0	CSN2	70856659	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	3.370000	0.52372	2.126000	0.65437	0.533000	0.62120	TAA		0.269	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1		
ALB	213	broad.mit.edu	37	4	74279142	74279142	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:74279142C>G	ENST00000503124.1	+	6	606	c.399C>G	c.(397-399)gaC>gaG	p.D133E	ALB_ENST00000509063.1_Missense_Mutation_p.D283E|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.D168E|ALB_ENST00000415165.2_Missense_Mutation_p.D91E|ALB_ENST00000295897.4_Missense_Mutation_p.D283E			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TATAGGCGGACCTTGCCAAGT	0.393																																						uc003hgs.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(847-849)gaC>gaG		Homo sapiens albumin (ALB), mRNA.	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						77.0	75.0	75.0					4																	74279142		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74279142C>G	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.399C>G	4.37:g.74279142C>G	ENSP00000421027:p.Asp133Glu					ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.D91E|ALB_uc011cbf.2_Missense_Mutation_p.D173E	p.D283E	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	922	+	Breast(15;0.00102)		283			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.849C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.065|1.065	-0.671702|-0.671702	0.03403|0.03403	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.72394|.	-0.65;-0.65;-0.65;-0.65;-0.65|.	6.16|6.16	-10.6|-10.6	0.00265|0.00265	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	0.981902|.	0.08366|.	N|.	0.956910|.	T|T	0.10035|0.10035	0.0246|0.0246	N|N	0.04669|0.04669	-0.19|-0.19	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.11329|.	0.006;0.001;0.001;0.001;0.0|.	T|T	0.11397|0.11397	-1.0589|-1.0589	10|5	0.30078|.	T|.	0.28|.	-10.2723|-10.2723	2.3922|2.3922	0.04381|0.04381	0.3442:0.2074:0.3372:0.1113|0.3442:0.2074:0.3372:0.1113	.|.	168;91;133;283;283|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	E|A	283;91;133;283;168;292|128	ENSP00000295897:D283E;ENSP00000401820:D91E;ENSP00000421027:D133E;ENSP00000422784:D283E;ENSP00000384695:D168E|.	ENSP00000295897:D283E|.	D|P	+|+	3|1	2|0	ALB|ALB	74498006|74498006	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.656000|0.656000	0.38851|0.38851	-2.912000|-2.912000	0.00698|0.00698	-1.980000|-1.980000	0.00990|0.00990	-0.986000|-0.986000	0.02555|0.02555	GAC|CCT		0.393	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
AFM	173	broad.mit.edu	37	4	74354363	74354363	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:74354363A>G	ENST00000226355.3	+	7	823	c.730A>G	c.(730-732)Agt>Ggt	p.S244G		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	244	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCGATACTCAGTCAAAAATT	0.343																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(730-732)Agt>Ggt		Homo sapiens afamin (AFM), mRNA.							91.0	92.0	92.0					4																	74354363		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74354363A>G	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.730A>G	4.37:g.74354363A>G	ENSP00000226355:p.Ser244Gly						p.S244G	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	761	+	Breast(15;0.00102)		244			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.730A>G	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.954723	0.34471	.	.	ENSG00000079557	ENST00000226355	T	0.79749	-1.3	5.36	2.96	0.34315	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.158016	0.56097	N	0.000024	D	0.88987	0.6587	M	0.88450	2.955	0.37721	D	0.924921	D	0.89917	1.0	D	0.87578	0.998	D	0.88221	0.2897	10	0.87932	D	0	.	6.6947	0.23193	0.8133:0.0:0.1867:0.0	.	244	P43652	AFAM_HUMAN	G	244	ENSP00000226355:S244G	ENSP00000226355:S244G	S	+	1	0	AFM	74573227	0.998000	0.40836	0.314000	0.25224	0.199000	0.23934	4.574000	0.60900	0.372000	0.24591	0.533000	0.62120	AGT		0.343	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
MMRN1	22915	broad.mit.edu	37	4	90874191	90874191	+	Missense_Mutation	SNP	T	T	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:90874191T>G	ENST00000394980.1	+	9	3628	c.3309T>G	c.(3307-3309)ttT>ttG	p.F1103L	MMRN1_ENST00000394981.1_Missense_Mutation_p.F406L|MMRN1_ENST00000264790.2_Missense_Mutation_p.F1103L|MMRN1_ENST00000508372.1_Missense_Mutation_p.F845L			Q13201	MMRN1_HUMAN	multimerin 1	1103	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGGTGGCATTTTTTGCATCTC	0.338																																						uc003hst.3																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3307-3309)ttT>ttG		Homo sapiens multimerin 1 (MMRN1), mRNA.							106.0	110.0	109.0					4																	90874191		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874191T>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3309T>G	4.37:g.90874191T>G	ENSP00000378431:p.Phe1103Leu					MMRN1_uc010iku.3_Missense_Mutation_p.F406L|MMRN1_uc011cds.2_Missense_Mutation_p.F845L	p.F1103L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	3380	+		Hepatocellular(203;0.114)	1103			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3309T>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001331	0.74818	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	4.73	3.57	0.40892	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.083157	0.52532	D	0.000080	D	0.98560	0.9519	M	0.80982	2.52	0.34875	D	0.74402	D;D	0.76494	0.979;0.999	D;D	0.87578	0.917;0.998	D	0.99936	1.1357	10	0.87932	D	0	.	8.9381	0.35713	0.0:0.0866:0.0:0.9134	.	406;1103	Q13201-2;Q13201	.;MMRN1_HUMAN	L	1103;1103;406;845	ENSP00000378431:F1103L;ENSP00000264790:F1103L;ENSP00000378432:F406L;ENSP00000426461:F845L	ENSP00000264790:F1103L	F	+	3	2	MMRN1	91093214	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.333000	0.33816	2.077000	0.62373	0.397000	0.26171	TTT		0.338	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
KLKB1	3818	broad.mit.edu	37	4	187157968	187157968	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:187157968T>A	ENST00000264690.6	+	5	549	c.362T>A	c.(361-363)aTg>aAg	p.M121K	KLKB1_ENST00000513864.1_Missense_Mutation_p.M121K	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	121	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGAGTTGATATGAGAGGAGTC	0.378																																						uc003iyy.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(361-363)aTg>aAg		Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.							137.0	136.0	136.0					4																	187157968		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187157968T>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.362T>A	4.37:g.187157968T>A	ENSP00000264690:p.Met121Lys					KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.M83K	p.M121K	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	4	433	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	121			Apple 2.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.362T>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.57|19.57	3.852496|3.852496	0.71719|0.71719	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715|ENST00000511608	D;D;D;D;D|.	0.91740|.	-2.49;-2.49;-2.49;-2.9;-2.49|.	4.91|4.91	4.91|4.91	0.64330|0.64330	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77452|.	0.4132|.	M|M	0.86178|0.86178	2.8|2.8	0.44880|0.44880	D|D	0.997897|0.997897	D;D|.	0.65815|.	0.995;0.994|.	D;D|.	0.81914|.	0.995;0.985|.	T|.	0.80379|.	-0.1407|.	10|.	0.87932|.	D|.	0|.	.|.	12.9579|12.9579	0.58441|0.58441	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	83;121|.	E7EQA8;P03952|.	.;KLKB1_HUMAN|.	K|R	121;121;83;83;121;83|169	ENSP00000412366:M121K;ENSP00000264690:M121K;ENSP00000415563:M83K;ENSP00000392231:M83K;ENSP00000424469:M121K|.	ENSP00000264690:M121K|.	M|X	+|+	2|1	0|0	KLKB1|KLKB1	187394962|187394962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.781000|0.781000	0.44180|0.44180	4.549000|4.549000	0.60726|0.60726	2.061000|2.061000	0.61500|0.61500	0.528000|0.528000	0.53228|0.53228	ATG|TGA		0.378	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	
CYSTM1	84418	broad.mit.edu	37	5	139622928	139622928	+	Missense_Mutation	SNP	C	C	T	rs200630553		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr5:139622928C>T	ENST00000261811.4	+	3	890	c.226C>T	c.(226-228)Cca>Tca	p.P76S	CYSTM1_ENST00000509789.2_3'UTR|PFDN1_ENST00000514611.1_5'Flank	NM_032412.3	NP_115788.1	Q9H1C7	CYTM1_HUMAN	cysteine-rich transmembrane module containing 1	76						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGAGCTAGGACCATCCACCTG	0.582																																						uc003lfd.3																			0											c.(226-228)Cca>Tca		Homo sapiens chromosome 5 open reading frame 32 (C5orf32), mRNA.							107.0	99.0	101.0					5																	139622928		2203	4300	6503	SO:0001583	missense	84418							g.chr5:139622928C>T	AJ245877	CCDS4221.1	5q31.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000120306	ENSG00000120306			30239	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 32"""	C5orf32		19933165	Standard	NM_032412		Approved	ORF1-FL49	uc003lfd.3	Q9H1C7	OTTHUMG00000129243	ENST00000261811.4:c.226C>T	5.37:g.139622928C>T	ENSP00000261811:p.Pro76Ser					CYSTM1_uc010jfi.3_Non-coding_Transcript	p.P76S	NM_032412	NP_115788	Q9H1C7	CE032_HUMAN			2	464	+			76					Q8TBA5	Missense_Mutation	SNP	ENST00000261811.4	37	c.226C>T	CCDS4221.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417214	0.25552	.	.	ENSG00000120306	ENST00000261811	T	0.29917	1.55	5.4	-3.39	0.04868	.	2.551040	0.01388	N	0.013171	T	0.13628	0.0330	.	.	.	0.24107	N	0.99585	B	0.02656	0.0	B	0.01281	0.0	T	0.07102	-1.0790	9	0.16896	T	0.51	6.1303	0.4526	0.00504	0.2606:0.1763:0.3032:0.2598	.	76	Q9H1C7	CE032_HUMAN	S	76	ENSP00000261811:P76S	ENSP00000261811:P76S	P	+	1	0	C5orf32	139603112	0.000000	0.05858	0.834000	0.33040	0.888000	0.51559	-0.530000	0.06179	-0.987000	0.03494	-0.150000	0.13652	CCA		0.582	CYSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251342.2	NM_032412	
SH3TC2	79628	broad.mit.edu	37	5	148417964	148417964	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr5:148417964C>T	ENST00000515425.1	-	8	996	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	SH3TC2_ENST00000512049.1_Missense_Mutation_p.G292S|SH3TC2_ENST00000394358.2_Missense_Mutation_p.G184S|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	299	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAAAGCCGATGATCTCA	0.473																																						uc003lpu.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(895-897)Ggc>Agc		Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.							209.0	206.0	207.0					5																	148417964		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148417964C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.895G>A	5.37:g.148417964C>T	ENSP00000423660:p.Gly299Ser					SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.G292S|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.G184S	p.G299S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1047	-			299			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.895G>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181290	0.78677	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.27890	1.64;1.64;1.64	4.88	4.88	0.63580	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.39397	1.21	0.49130	D	0.999754	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.47573	-0.9107	10	0.72032	D	0.01	.	16.1499	0.81605	0.0:1.0:0.0:0.0	.	184;292;299	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	S	299;292;184	ENSP00000423660:G299S;ENSP00000421860:G292S;ENSP00000377886:G184S	ENSP00000377886:G184S	G	-	1	0	SH3TC2	148398157	1.000000	0.71417	0.990000	0.47175	0.465000	0.32709	5.989000	0.70587	2.424000	0.82194	0.561000	0.74099	GGC		0.473	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
OR2J3	442186	broad.mit.edu	37	6	29080039	29080039	+	Silent	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:29080039C>T	ENST00000377169.1	+	1	372	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTCCTATGACCGTTATGCAG	0.488																																						uc011dll.2																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(370-372)gaC>gaT		Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.							388.0	432.0	417.0					6																	29080039		1377	2651	4028	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080039C>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.372C>T	6.37:g.29080039C>T							p.D124D	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			0	372	+			124					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.372C>T	CCDS43433.1																																																																																				0.488	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2		
TNXB	7148	broad.mit.edu	37	6	32041532	32041532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:32041532G>A	ENST00000375244.3	-	12	4774	c.4573C>T	c.(4573-4575)Cga>Tga	p.R1525*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.R1525*			P22105	TENX_HUMAN	tenascin XB	1612	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGACCTCTCGCTGGTCTGCC	0.567																																						uc003nzl.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4573-4575)Cga>Tga		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							26.0	29.0	28.0					6																	32041532		1316	2594	3910	SO:0001587	stop_gained	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32041532G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4573C>T	6.37:g.32041532G>A	ENSP00000364393:p.Arg1525*						p.R1525*	NM_019105	NP_061978	P22105	TENX_HUMAN			11	4775	-			1612			Fibronectin type-III 7.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Nonsense_Mutation	SNP	ENST00000375244.3	37	c.4573C>T		.	.	.	.	.	.	.	.	.	.	G	43	10.516113	0.99419	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	.	.	.	5.46	4.51	0.55191	.	1.157910	0.06514	N	0.738473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	12.3991	0.55402	0.0:0.0:0.7971:0.2029	.	.	.	.	X	1525	.	ENSP00000364393:R1525X	R	-	1	2	TNXB	32149510	0.869000	0.29996	0.951000	0.38953	0.147000	0.21601	1.563000	0.36364	2.552000	0.86080	0.543000	0.68304	CGA		0.567	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
C6orf89	221477	broad.mit.edu	37	6	36891125	36891125	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:36891125T>A	ENST00000480824.2	+	9	1246	c.952T>A	c.(952-954)Tat>Aat	p.Y318N	C6orf89_ENST00000510325.2_Missense_Mutation_p.Y212N|C6orf89_ENST00000359359.2_Missense_Mutation_p.Y212N|C6orf89_ENST00000355190.3_Missense_Mutation_p.Y325N|C6orf89_ENST00000373685.1_Missense_Mutation_p.Y318N			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	318					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CCCTCAAGGCTATGTCGACAC	0.552																																						uc003omw.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(973-975)Tat>Aat		Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.							74.0	61.0	65.0					6																	36891125		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36891125T>A	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.952T>A	6.37:g.36891125T>A	ENSP00000475947:p.Tyr318Asn					C6orf89_uc003omv.3_Missense_Mutation_p.Y212N|C6orf89_uc003omx.3_Missense_Mutation_p.Y318N|C6orf89_uc011dtr.2_Missense_Mutation_p.Y212N	p.Y325N	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN			7	1136	+			318					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.973T>A		.	.	.	.	.	.	.	.	.	.	T	16.06	3.017039	0.54576	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.66939	2.045	0.47862	D	0.999535	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.75473	-0.3305	9	0.87932	D	0	-1.6919	12.1157	0.53863	0.0:0.0:0.0:1.0	.	318;325	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	N	212;212;325;318	.	ENSP00000347322:Y325N	Y	+	1	0	C6orf89	36999103	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	3.917000	0.56424	2.128000	0.65567	0.459000	0.35465	TAT		0.552	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734	
AOAH	313	broad.mit.edu	37	7	36616236	36616236	+	Missense_Mutation	SNP	C	C	T	rs375296715		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:36616236C>T	ENST00000258749.5	-	13	1364	c.965G>A	c.(964-966)cGc>cAc	p.R322H	AOAH_ENST00000431169.1_Missense_Mutation_p.R322H|AOAH_ENST00000535891.1_Missense_Mutation_p.R290H|AOAH_ENST00000538464.1_Missense_Mutation_p.R44H	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	322					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTTCCATAAGCGAAGGTAAAT	0.303																																						uc022abu.1																			0		p.R322C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(964-966)cGc>cAc		Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405		0,1,2202	138.0	134.0	135.0		965,869,965	2.1	0.9	7		135	0,8600		0,0,4300	no	missense,missense,missense	AOAH	NM_001637.3,NM_001177507.1,NM_001177506.1	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	322/576,290/544,322/689	36616236	1,13005	2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36616236C>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.965G>A	7.37:g.36616236C>T	ENSP00000258749:p.Arg322His					AOAH_uc003tfh.4_Missense_Mutation_p.R322H|AOAH_uc011kba.2_Missense_Mutation_p.R290H	p.R322H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN			12	1366	-			322					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.965G>A	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522631	0.27211	2.27E-4	0.0	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	4.9	2.08	0.27032	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.274269	0.32608	N	0.005865	T	0.13200	0.0320	.	.	.	0.37370	D	0.911578	B;P;B	0.45715	0.027;0.865;0.274	B;B;B	0.38327	0.019;0.271;0.031	T	0.09729	-1.0661	9	0.59425	D	0.04	-9.7984	7.4318	0.27132	0.0:0.7257:0.0:0.2743	.	290;322;322	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	H	44;290;322;322;322	ENSP00000439283:R44H;ENSP00000441101:R290H;ENSP00000258749:R322H;ENSP00000405683:R322H	ENSP00000258749:R322H	R	-	2	0	AOAH	36582761	0.811000	0.29063	0.869000	0.34112	0.538000	0.34931	0.205000	0.17356	0.344000	0.23847	0.650000	0.86243	CGC		0.303	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637	
HECW1	23072	broad.mit.edu	37	7	43484236	43484236	+	Nonsense_Mutation	SNP	G	G	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:43484236G>T	ENST00000395891.2	+	11	2070	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.E489*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	489	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCCTTGGAGGAGGAAGCAAC	0.632																																						uc003tid.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1465-1467)Gag>Tag		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							16.0	19.0	18.0					7																	43484236		2061	4197	6258	SO:0001587	stop_gained	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484236G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1465G>T	7.37:g.43484236G>T	ENSP00000379228:p.Glu489*					HECW1_uc011kbi.1_Nonsense_Mutation_p.E489*	p.E489*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			10	2070	+			489			Glu-rich.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	c.1465G>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	38	6.807129	0.97853	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	4.89	2.0	0.26442	.	3.482350	0.00659	N	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	8.2742	0.31862	0.1377:0.2381:0.6242:0.0	.	.	.	.	X	489	.	ENSP00000265522:E489X	E	+	1	0	HECW1	43450761	0.162000	0.22906	0.000000	0.03702	0.069000	0.16628	1.684000	0.37649	0.179000	0.19938	0.561000	0.74099	GAG		0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
DDC	1644	broad.mit.edu	37	7	50534977	50534977	+	Missense_Mutation	SNP	G	G	A	rs375309190		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:50534977G>A	ENST00000444124.2	-	13	1377	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	DDC_ENST00000426377.1_Missense_Mutation_p.R315C|DDC_ENST00000431062.1_Missense_Mutation_p.R300C|DDC_ENST00000357936.5_Missense_Mutation_p.R393C	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	393					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GGATCCTGGCGCACCAGTGAC	0.433																																						uc003tpg.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(1177-1179)Cgc>Tgc		Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	136.0	136.0	136.0		898,943,1033,1063,1177,1177	3.3	0.3	7		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	DDC	NM_001242889.1,NM_001242888.1,NM_001242887.1,NM_001242886.1,NM_001082971.1,NM_000790.3	180,180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	300/388,315/403,345/433,355/443,393/481,393/481	50534977	1,13005	2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50534977G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1177C>T	7.37:g.50534977G>A	ENSP00000403644:p.Arg393Cys					DDC_uc022ade.1_Missense_Mutation_p.R315C|DDC_uc003tpf.4_Missense_Mutation_p.R393C|DDC_uc022adb.1_Missense_Mutation_p.R355C|DDC_uc022adc.1_Missense_Mutation_p.R345C|DDC_uc022add.1_Missense_Mutation_p.R300C	p.R393C	NM_001082971	NP_001076440	P20711	DDC_HUMAN			12	1378	-	Glioma(55;0.08)|all_neural(89;0.245)		393					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.1177C>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989252	0.35131	0.0	1.16E-4	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.08	3.26	0.37387	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.820885	0.11368	N	0.571232	T	0.51143	0.1657	M	0.92219	3.285	0.25023	N	0.991321	B;B	0.20780	0.048;0.048	B;B	0.15484	0.013;0.013	T	0.49790	-0.8902	10	0.44086	T	0.13	-2.046	7.9934	0.30254	0.073:0.0:0.6434:0.2836	.	393;393	Q53Y41;P20711	.;DDC_HUMAN	C	393;300;315;393	ENSP00000350616:R393C;ENSP00000399184:R300C;ENSP00000395069:R315C;ENSP00000403644:R393C	ENSP00000350616:R393C	R	-	1	0	DDC	50502471	0.922000	0.31269	0.334000	0.25495	0.194000	0.23727	2.770000	0.47662	0.630000	0.30394	-0.182000	0.12963	CGC		0.433	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1		
DDC	1644	broad.mit.edu	37	7	50607722	50607722	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:50607722G>A	ENST00000444124.2	-	3	406	c.206C>T	c.(205-207)aCg>aTg	p.T69M	DDC_ENST00000426377.1_Intron|DDC_ENST00000431062.1_Missense_Mutation_p.T69M|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000357936.5_Missense_Mutation_p.T69M|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Missense_Mutation_p.T69M	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	69	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.T69M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GTGCCAGTGCGTCACCTGCAT	0.647																																						uc003tpg.4																			1	Substitution - Missense(1)	p.T69M(2)	large_intestine(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(205-207)aCg>aTg		Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						93.0	75.0	81.0					7																	50607722		2202	4300	6502	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50607722G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.206C>T	7.37:g.50607722G>A	ENSP00000403644:p.Thr69Met					DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Missense_Mutation_p.T69M|DDC_uc022adb.1_Intron|DDC_uc022adc.1_Missense_Mutation_p.T69M|DDC_uc022add.1_Missense_Mutation_p.T69M|DDC_uc022adf.1_Missense_Mutation_p.T69M|LOC100129427_uc022adg.1_Non-coding_Transcript	p.T69M	NM_001082971	NP_001076440	P20711	DDC_HUMAN			2	407	-	Glioma(55;0.08)|all_neural(89;0.245)		69			2 X approximate tandem repeats.		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.206C>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.476472|4.476472	0.84640|0.84640	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	.|T;T;T;T	.|0.39787	.|1.06;1.06;1.06;1.06	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.045704	.|0.85682	.|D	.|0.000000	T|T	0.76579|0.76579	0.4007|0.4007	H|H	0.95816|0.95816	3.725|3.725	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.83972|0.83972	0.0327|0.0327	5|10	.|0.87932	.|D	.|0	-10.3752|-10.3752	19.4023|19.4023	0.94635|0.94635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|69;69	.|Q53Y41;P20711	.|.;DDC_HUMAN	C|M	35|69	.|ENSP00000350616:T69M;ENSP00000399184:T69M;ENSP00000403644:T69M;ENSP00000370371:T69M	.|ENSP00000350616:T69M	R|T	-|-	1|2	0|0	DDC|DDC	50575216|50575216	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.920000|0.920000	0.55202|0.55202	6.744000|6.744000	0.74854|0.74854	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.647	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1		
SEMA3D	223117	broad.mit.edu	37	7	84727157	84727157	+	Silent	SNP	T	T	C	rs561234345		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:84727157T>C	ENST00000284136.6	-	2	319	c.276A>G	c.(274-276)ctA>ctG	p.L92L	SEMA3D_ENST00000444867.1_Silent_p.L92L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	92	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCAGACTGAGTAGAAAGATGT	0.363																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(274-276)ctA>ctG		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.							111.0	115.0	113.0					7																	84727157		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84727157T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.276A>G	7.37:g.84727157T>C						SEMA3D_uc010led.3_Silent_p.L92L|SEMA3D_uc010lee.1_Silent_p.L92L	p.L92L	NM_152754	NP_689967	O95025	SEM3D_HUMAN			1	316	-			92			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.276A>G	CCDS34676.1																																																																																				0.363	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
ADAM22	53616	broad.mit.edu	37	7	87774461	87774461	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:87774461G>A	ENST00000265727.7	+	16	1421	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	ADAM22_ENST00000398204.4_Missense_Mutation_p.G448S|ADAM22_ENST00000398201.4_Missense_Mutation_p.G448S|ADAM22_ENST00000398209.3_Missense_Mutation_p.G448S|ADAM22_ENST00000315984.7_Missense_Mutation_p.G448S			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	448	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTGAGTGTGGCAATGGCTT	0.408																																						uc003ujn.3																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(1342-1344)Ggc>Agc		Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.							135.0	125.0	128.0					7																	87774461		1847	4098	5945	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87774461G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1342G>A	7.37:g.87774461G>A	ENSP00000265727:p.Gly448Ser					ADAM22_uc003ujk.2_Missense_Mutation_p.G448S|ADAM22_uc003ujl.2_Missense_Mutation_p.G448S|ADAM22_uc003ujm.3_Missense_Mutation_p.G448S|ADAM22_uc003ujo.3_Missense_Mutation_p.G448S|ADAM22_uc003ujp.1_Missense_Mutation_p.G500S	p.G448S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		15	1557	+	Esophageal squamous(14;0.00202)		448			Disintegrin.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.1342G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	36	5.729528	0.96856	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.06068	3.35;3.4;3.47;3.54;3.51;3.46	5.88	5.88	0.94601	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	H	0.99261	4.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.69551	-0.5115	10	0.87932	D	0	.	19.0095	0.92867	0.0:0.0:1.0:0.0	.	500;448;448;448	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	S	448;448;448;448;448;415	ENSP00000381262:G448S;ENSP00000381260:G448S;ENSP00000265727:G448S;ENSP00000315900:G448S;ENSP00000381267:G448S;ENSP00000381261:G415S	ENSP00000265727:G448S	G	+	1	0	ADAM22	87612397	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.011000	0.93618	2.779000	0.95612	0.650000	0.86243	GGC		0.408	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
ZC3HAV1	56829	broad.mit.edu	37	7	138764823	138764823	+	Silent	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:138764823C>T	ENST00000242351.5	-	4	1180	c.864G>A	c.(862-864)gcG>gcA	p.A288A	ZC3HAV1_ENST00000471652.1_Silent_p.A288A|ZC3HAV1_ENST00000464606.1_Silent_p.A288A	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	288					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CGTCCACAGGCGCGTCCTCCA	0.587																																						uc003vun.3																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(862-864)gcG>gcA		Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.							91.0	93.0	93.0					7																	138764823		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764823C>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.864G>A	7.37:g.138764823C>T						ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Silent_p.A288A	p.A288A	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			3	1252	-			288					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.864G>A	CCDS5851.1																																																																																				0.587	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
MKRN1	23608	broad.mit.edu	37	7	140154505	140154505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:140154505C>A	ENST00000255977.2	-	8	1485	c.1261G>T	c.(1261-1263)Gaa>Taa	p.E421*	MKRN1_ENST00000437223.2_Nonsense_Mutation_p.E155*|MKRN1_ENST00000474576.1_Nonsense_Mutation_p.E357*	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	421					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TCAATGAGTTCCCAGAAGTGG	0.468																																						uc003vvt.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(1261-1263)Gaa>Taa		Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.							91.0	79.0	83.0					7																	140154505		2203	4300	6503	SO:0001587	stop_gained	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140154505C>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1261G>T	7.37:g.140154505C>A	ENSP00000255977:p.Glu421*					MKRN1_uc003vvs.2_Nonsense_Mutation_p.E357*|MKRN1_uc011krd.1_Nonsense_Mutation_p.E155*	p.E421*	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			7	1486	-	Melanoma(164;0.00956)		421					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Nonsense_Mutation	SNP	ENST00000255977.2	37	c.1261G>T	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	C	37	6.218609	0.97385	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576	.	.	.	5.06	5.06	0.68205	.	0.137848	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.6157	0.91302	0.0:1.0:0.0:0.0	.	.	.	.	X	421;357;155;357	.	ENSP00000255977:E421X	E	-	1	0	MKRN1	139800974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.266000	0.78452	2.629000	0.89072	0.650000	0.86243	GAA		0.468	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446	
PIWIL2	55124	broad.mit.edu	37	8	22165552	22165552	+	Missense_Mutation	SNP	G	G	A	rs529353152		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr8:22165552G>A	ENST00000454009.2	+	14	2161	c.1652G>A	c.(1651-1653)cGt>cAt	p.R551H	PIWIL2_ENST00000356766.6_Missense_Mutation_p.R551H|PIWIL2_ENST00000521356.1_Missense_Mutation_p.R551H	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	551					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GAACTGATGCGTTGGGGGCTC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		14581	0.001		0.0	False		,,,				2504	0.0					uc003xbn.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1651-1653)cGt>cAt		Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.							60.0	54.0	56.0					8																	22165552		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22165552G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1652G>A	8.37:g.22165552G>A	ENSP00000406956:p.Arg551His					PIWIL2_uc011kzf.1_Missense_Mutation_p.R551H|PIWIL2_uc010ltv.2_Missense_Mutation_p.R551H	p.R551H	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	13	1800	+			551					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1652G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039497	0.55003	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.14022	2.54;2.54;2.54	5.99	5.99	0.97316	Ribonuclease H-like (1);	0.152660	0.64402	D	0.000012	T	0.21267	0.0512	M	0.73598	2.24	0.58432	D	0.999998	B;P	0.48911	0.106;0.917	B;B	0.38562	0.027;0.276	T	0.02625	-1.1132	10	0.59425	D	0.04	-0.1693	19.3186	0.94226	0.0:0.0:1.0:0.0	.	551;551	E7ECA4;Q8TC59	.;PIWL2_HUMAN	H	551	ENSP00000349208:R551H;ENSP00000428267:R551H;ENSP00000406956:R551H	ENSP00000349208:R551H	R	+	2	0	PIWIL2	22221497	0.998000	0.40836	0.895000	0.35142	0.584000	0.36387	4.355000	0.59424	2.850000	0.98022	0.650000	0.86243	CGT		0.453	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
ADAM28	10863	broad.mit.edu	37	8	24181517	24181517	+	Splice_Site	SNP	G	G	A	rs138768775		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr8:24181517G>A	ENST00000265769.4	+	9	1000		c.e9+1		RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Splice_Site|ADAM28_ENST00000518516.1_Splice_Site|ADAM28_ENST00000540823.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Splice_Site|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTTAATCACGTATGTACAGA	0.423																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e9+1		Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.		G	,	0,4404		0,0,2202	96.0	97.0	97.0		,	4.9	1.0	8	dbSNP_134	97	1,8595	1.2+/-3.3	0,1,4297	yes	splice-5,splice-5	ADAM28	NM_014265.4,NM_021777.3	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	,	24181517	1,12999	2202	4298	6500	SO:0001630	splice_region_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24181517G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.890+1G>A	8.37:g.24181517G>A						ADAM28_uc003xdx.3_Splice_Site_p.T297_splice|ADAM28_uc011kzz.2_Splice_Site_p.T64_splice|ADAM28_uc011laa.2_Splice_Site|ADAM28_uc010lua.3_5'Flank	p.T297_splice	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	9	973	+		Prostate(55;0.0959)	297			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Splice_Site	SNP	ENST00000265769.4	37	c.890_splice	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159541	0.57368	0.0	1.16E-4	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8691	0.63608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM28	24237462	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	6.795000	0.75140	2.416000	0.81992	0.650000	0.86243	.		0.423	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	Intron
PTGR1	22949	broad.mit.edu	37	9	114332377	114332377	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:114332377G>A	ENST00000407693.2	-	9	1135	c.873C>T	c.(871-873)gtC>gtT	p.V291V	PTGR1_ENST00000538962.1_Silent_p.V291V|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000238248.3_Silent_p.V168V|PTGR1_ENST00000309195.5_Silent_p.V291V	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	291					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TTACCTCTAAGACCCATTTCA	0.498																																					Ovarian(200;132 2151 7551 19220 46064)	uc010mue.3																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.(871-873)gtC>gtT		Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.							58.0	53.0	55.0					9																	114332377		2203	4300	6503	SO:0001819	synonymous_variant	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114332377G>A	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.873C>T	9.37:g.114332377G>A						ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.2_Silent_p.V291V|PTGR1_uc004bfh.2_Silent_p.V291V|PTGR1_uc004bfi.3_Silent_p.V291V|PTGR1_uc004bfj.3_Silent_p.V168V	p.V291V	NM_001146109	NP_001139581	Q14914	PTGR1_HUMAN			8	1136	-			291					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Silent	SNP	ENST00000407693.2	37	c.873C>T	CCDS6779.1																																																																																				0.498	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		
TPRN	286262	broad.mit.edu	37	9	140086667	140086667	+	Intron	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:140086667C>T	ENST00000409012.4	-	4	2160				TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_Missense_Mutation_p.R645Q	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin						sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TGGGCTCGCCCGGGTGTCAGA	0.662																																						uc004clt.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(2116-2118)cGg>cAg		Homo sapiens taperin (TPRN), mRNA.							57.0	66.0	63.0					9																	140086667		2203	4300	6503	SO:0001627	intron_variant	286262				sensory perception of sound	stereocilium		g.chr9:140086667C>T	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.2074-41G>A	9.37:g.140086667C>T						TPRN_uc004clu.3_Intron	p.R706Q	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN			2	2117	-			691					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	c.2117G>A	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	C	1.201	-0.632601	0.03584	.	.	ENSG00000176058	ENST00000333046;ENST00000321773	.	.	.	3.95	0.811	0.18739	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25572	-1.0128	5	0.13853	T	0.58	.	3.0567	0.06187	0.2114:0.5534:0.0:0.2352	.	.	.	.	Q	504;645	.	ENSP00000313704:R645Q	R	-	2	0	TPRN	139206488	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	0.467000	0.22035	0.457000	0.26962	-0.379000	0.06801	CGG		0.662	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691	
CACNA1B	774	broad.mit.edu	37	9	141012527	141012527	+	Silent	SNP	A	A	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:141012527A>T	ENST00000371372.1	+	43	6052	c.5907A>T	c.(5905-5907)ggA>ggT	p.G1969G	CACNA1B_ENST00000371363.1_Silent_p.G1967G|CACNA1B_ENST00000277549.5_Silent_p.G1163G|CACNA1B_ENST00000371355.4_Silent_p.G1970G|CACNA1B_ENST00000371357.1_Silent_p.G1968G|CACNA1B_ENST00000277551.2_Silent_p.G1969G	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1969					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCGGTCAGGAGCACTGGTGA	0.642																																						uc004cog.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(5899-5901)ggA>ggT		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						18.0	21.0	20.0					9																	141012527		1900	4123	6023	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141012527A>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5907A>T	9.37:g.141012527A>T						CACNA1B_uc022bqn.1_Silent_p.G1967G|CACNA1B_uc004coi.3_Silent_p.G1181G	p.G1967G	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	41	6046	+	all_cancers(76;0.166)		1969					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.5901A>T	CCDS59522.1																																																																																				0.642	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
IL3RA	3563	broad.mit.edu	37	X	1471117	1471117	+	Silent	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:1471117C>T	ENST00000331035.4	+	5	772	c.423C>T	c.(421-423)aaC>aaT	p.N141N	IL3RA_ENST00000381469.2_Silent_p.N63N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	141					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	TGTACTTGAACGTTGCCAAGT	0.647													c|||	9	0.00179712	0.0	0.0014	5008	,	,		15375	0.0		0.003	False		,,,				2504	0.0051					uc004cps.3																			0				lung(1)|skin(2)	3						c.(421-423)aaC>aaT		Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	Sargramostim(DB00020)	C		0,4406		0,0,2203	129.0	136.0	133.0		423	-3.8	0.0	X	dbSNP_134	133	14,8578		0,14,4282	no	coding-synonymous	IL3RA	NM_002183.2		0,14,6485	TT,TC,CC		0.1629,0.0,0.1077		141/379	1471117	14,12984	2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1471117C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.423C>T	X.37:g.1471117C>T						CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Silent_p.N63N	p.N141N	NM_002183	NP_002174	P26951	IL3RA_HUMAN			4	772	+		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)	141					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.423C>T	CCDS14113.1																																																																																				0.647	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3		
ARSE	415	broad.mit.edu	37	X	2867414	2867414	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:2867414G>A	ENST00000381134.3	-	6	851	c.785C>T	c.(784-786)aCg>aTg	p.T262M	ARSE_ENST00000540563.1_Missense_Mutation_p.T217M|ARSE_ENST00000545496.1_Missense_Mutation_p.T287M	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	262					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)				GGGCTGCTCCGTGATGGTGTG	0.532																																						uc011mhh.2																			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.(859-861)aCg>aTg		Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.							93.0	74.0	80.0					X																	2867414		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867414G>A	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.785C>T	X.37:g.2867414G>A	ENSP00000370526:p.Thr262Met					ARSE_uc011mhi.2_Missense_Mutation_p.T208M|ARSE_uc004crc.4_Missense_Mutation_p.T262M	p.T287M			P51690	ARSE_HUMAN			6	1321	-		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)	262					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.860C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	g	5.501	0.277468	0.10403	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.98762	-5.12;-5.12;-5.12	3.54	1.7	0.24286	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.451388	0.24370	N	0.039110	D	0.98893	0.9625	M	0.90542	3.125	0.09310	N	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.66497	0.944;0.923;0.932	D	0.95798	0.8830	10	0.59425	D	0.04	.	8.0775	0.30724	0.2144:0.0:0.7856:0.0	.	217;287;262	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	M	217;287;262	ENSP00000438198:T217M;ENSP00000441417:T287M;ENSP00000370526:T262M	ENSP00000370526:T262M	T	-	2	0	ARSE	2877414	0.925000	0.31364	0.023000	0.16930	0.047000	0.14425	3.195000	0.51013	0.377000	0.24735	0.591000	0.81541	ACG		0.532	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047	
GPR143	4935	broad.mit.edu	37	X	9693807	9693807	+	Silent	SNP	G	G	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:9693807G>C	ENST00000467482.1	-	9	1340	c.1194C>G	c.(1192-1194)ctC>ctG	p.L398L	GPR143_ENST00000380929.2_Silent_p.L418L			P51810	GP143_HUMAN	G protein-coupled receptor 143	398					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CATGGGTTGGGAGAGCAGGGT	0.473																																						uc004cst.2																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1192-1194)ctC>ctG		Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.							177.0	133.0	148.0					X																	9693807		2203	4300	6503	SO:0001819	synonymous_variant	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9693807G>C	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.1194C>G	X.37:g.9693807G>C							p.L398L	NM_000273	NP_000264	P51810	GP143_HUMAN			8	1342	-		Hepatocellular(5;0.000888)	398					Q6NTI7	Silent	SNP	ENST00000467482.1	37	c.1194C>G	CCDS14134.2																																																																																				0.473	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273	
FRMPD4	9758	broad.mit.edu	37	X	12735884	12735884	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:12735884C>T	ENST00000380682.1	+	16	3445	c.2939C>T	c.(2938-2940)cCg>cTg	p.P980L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	980					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACCGACCTCCCGCCCAAAGTT	0.572																																						uc004cuz.2																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2938-2940)cCg>cTg		Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.							57.0	56.0	56.0					X																	12735884		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735884C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2939C>T	X.37:g.12735884C>T	ENSP00000370057:p.Pro980Leu					FRMPD4_uc011mij.2_Missense_Mutation_p.P972L	p.P980L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	3445	+			980					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2939C>T	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529761	0.27387	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05513	3.43	5.47	3.47	0.39725	.	0.114521	0.64402	D	0.000012	T	0.04588	0.0125	L	0.44542	1.39	0.40078	D	0.976103	P;P	0.49862	0.875;0.929	B;B	0.27500	0.08;0.08	T	0.48514	-0.9029	10	0.44086	T	0.13	-13.0012	11.2765	0.49170	0.652:0.348:0.0:0.0	.	972;980	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	L	980;971;969	ENSP00000370057:P980L	ENSP00000304583:P969L	P	+	2	0	FRMPD4	12645805	0.997000	0.39634	0.180000	0.23079	0.864000	0.49448	4.895000	0.63214	1.047000	0.40274	0.513000	0.50165	CCG		0.572	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
FTSJ1	24140	broad.mit.edu	37	X	48337447	48337447	+	Missense_Mutation	SNP	A	A	T	rs75296308	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:48337447A>T	ENST00000348411.2	+	5	627	c.304A>T	c.(304-306)Atc>Ttc	p.I102F	FTSJ1_ENST00000019019.2_Missense_Mutation_p.I102F|FTSJ1_ENST00000456787.1_Missense_Mutation_p.I102F|FTSJ1_ENST00000396894.4_5'UTR|FTSJ1_ENST00000496365.1_3'UTR	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CAAGGAGATCATCCAGCACTT	0.632													A|||	9	0.00238411	0.0068	0.0	3775	,	,		13989	0.0		0.0	False		,,,				2504	0.0					uc004djo.1																			0				breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						c.(304-306)Atc>Ttc		Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.			PHE/ILE,PHE/ILE,PHE/ILE	17,3818		0,15,2,1617,569	116.0	102.0	107.0		304,304,304	4.7	1.0	X	dbSNP_131	107	0,6728		0,0,0,2428,1872	yes	missense,missense,missense	FTSJ1	NM_012280.2,NM_177434.1,NM_177439.1	21,21,21	0,15,2,4045,2441	TT,TA,T,AA,A		0.0,0.4433,0.1609	possibly-damaging,possibly-damaging,possibly-damaging	102/330,102/328,102/328	48337447	17,10546	2203	4300	6503	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48337447A>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.304A>T	X.37:g.48337447A>T	ENSP00000326948:p.Ile102Phe					FTSJ1_uc004djn.1_Missense_Mutation_p.I102F|FTSJ1_uc011mlw.1_5'UTR	p.I102F	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN			4	627	+			102						Missense_Mutation	SNP	ENST00000348411.2	37	c.304A>T	CCDS14294.1	7	0.004219409282700422	4	0.00823045267489712	0	0.0	0	0.0	0	0.0	a	18.55	3.647955	0.67358	0.004433	0.0	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.29655	1.56;1.56;1.56	4.7	4.7	0.59300	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	M	0.71920	2.185	0.80722	D	1	D;B;B	0.62365	0.991;0.038;0.367	D;B;B	0.67103	0.949;0.094;0.314	T	0.50110	-0.8866	10	0.87932	D	0	-0.1672	9.6247	0.39743	1.0:0.0:0.0:0.0	.	102;102;102	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	F	102	ENSP00000019019:I102F;ENSP00000326948:I102F;ENSP00000415457:I102F	ENSP00000019019:I102F	I	+	1	0	FTSJ1	48222391	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.880000	0.56145	1.876000	0.54355	0.385000	0.25706	ATC		0.632	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1		
PORCN	64840	broad.mit.edu	37	X	48374470	48374470	+	Missense_Mutation	SNP	G	G	A	rs387906723		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:48374470G>A	ENST00000326194.6	+	12	1152	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	PORCN_ENST00000355092.3_Missense_Mutation_p.R364Q|PORCN_ENST00000367574.4_Missense_Mutation_p.R288Q|PORCN_ENST00000355961.4_Missense_Mutation_p.R365Q|PORCN_ENST00000537758.1_Missense_Mutation_p.R370Q|PORCN_ENST00000361988.3_Missense_Mutation_p.R359Q|PORCN_ENST00000359882.4_Missense_Mutation_p.R364Q	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	370					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTGGCTCGGATCCTCAGT	0.627																																						uc010nie.1																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1108-1110)cGg>cAg		Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.							65.0	57.0	60.0					X																	48374470		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48374470G>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1109G>A	X.37:g.48374470G>A	ENSP00000322304:p.Arg370Gln					PORCN_uc004djr.1_Missense_Mutation_p.R365Q|PORCN_uc004djs.1_Missense_Mutation_p.R359Q|PORCN_uc011mlx.1_Missense_Mutation_p.R288Q|PORCN_uc004dju.1_Missense_Mutation_p.R228Q|PORCN_uc004djv.1_Missense_Mutation_p.R370Q|PORCN_uc004djw.1_Missense_Mutation_p.R364Q	p.R370Q	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			12	1267	+			370					B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.1109G>A	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435060	0.25813	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.53	3.02	0.34903	.	0.515857	0.20583	N	0.089496	T	0.47358	0.1441	N	0.20685	0.6	0.22842	N	0.998666	B;B;B;B;B	0.14012	0.002;0.0;0.009;0.002;0.001	B;B;B;B;B	0.16289	0.002;0.002;0.015;0.002;0.0	T	0.20009	-1.0288	10	0.14252	T	0.57	-5.7817	4.1214	0.10108	0.3205:0.2412:0.4383:0.0	.	364;370;288;359;365	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	Q	364;370;288;365;359;370;364	ENSP00000352946:R364Q;ENSP00000446401:R370Q;ENSP00000356546:R288Q;ENSP00000348233:R365Q;ENSP00000354978:R359Q;ENSP00000322304:R370Q;ENSP00000347207:R364Q	ENSP00000322304:R370Q	R	+	2	0	PORCN	48259414	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	0.386000	0.20702	0.623000	0.30267	0.529000	0.55759	CGG		0.627	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825	
TSR2	90121	broad.mit.edu	37	X	54467162	54467162	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:54467162G>A	ENST00000375151.4	+	2	142	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	41					rRNA processing (GO:0006364)					breast(1)|endometrium(3)|lung(2)	6						GCACAGCCAGGAGAAGGCCAA	0.607																																						uc004dte.3																			0				breast(1)|endometrium(3)|lung(2)	6						c.(121-123)Gag>Aag		Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA.							50.0	48.0	48.0					X																	54467162		2203	4300	6503	SO:0001583	missense	90121				rRNA processing		protein binding	g.chrX:54467162G>A	BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"""WGG motif containing 1"""					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.121G>A	X.37:g.54467162G>A	ENSP00000364293:p.Glu41Lys					TSR2_uc004dtf.3_Intron	p.E41K	NM_058163	NP_477511	Q969E8	TSR2_HUMAN			1	123	+			41						Missense_Mutation	SNP	ENST00000375151.4	37	c.121G>A	CCDS14358.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781916	0.90282	.	.	ENSG00000158526	ENST00000375151	.	.	.	5.04	5.04	0.67666	.	0.059919	0.64402	D	0.000002	T	0.78194	0.4245	M	0.80847	2.515	0.48288	D	0.999625	D	0.65815	0.995	D	0.67725	0.953	T	0.79434	-0.1805	9	0.42905	T	0.14	-11.1677	14.4005	0.67041	0.0:0.0:1.0:0.0	.	41	Q969E8	TSR2_HUMAN	K	41	.	ENSP00000364293:E41K	E	+	1	0	TSR2	54483887	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.753000	0.55180	2.092000	0.63282	0.513000	0.50165	GAG		0.607	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056802.1	NM_058163	
ZC3H12B	340554	broad.mit.edu	37	X	64721735	64721735	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:64721735G>A	ENST00000338957.4	+	5	1224	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R375H	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	386							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R236H(1)|p.R322H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCCCAGCGTTCGGTGGCT	0.532																																						uc010nko.3																			2	Substitution - Missense(2)	p.R236H(1)|p.R322H(1)	large_intestine(2)	breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1156-1158)cGt>cAt		Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.							27.0	27.0	27.0					X																	64721735		1945	4130	6075	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64721735G>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1157G>A	X.37:g.64721735G>A	ENSP00000340839:p.Arg386His						p.R386H	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			4	1224	+			375					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.1157G>A	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844664	0.71488	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.28895	1.59;1.6	5.0	5.0	0.66597	.	0.051704	0.85682	D	0.000000	T	0.57666	0.2069	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64024	-0.6504	10	0.87932	D	0	-23.803	15.8636	0.79043	0.0:0.0:1.0:0.0	.	375	Q5HYM0	ZC12B_HUMAN	H	386;375;322	ENSP00000340839:R386H;ENSP00000408077:R375H	ENSP00000218172:R322H	R	+	2	0	ZC3H12B	64638460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.541000	0.73865	2.047000	0.60756	0.513000	0.50165	CGT		0.532	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334	
SLC7A3	84889	broad.mit.edu	37	X	70147393	70147393	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:70147393C>T	ENST00000374299.3	-	7	1268	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R375Q			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	375					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGTGGATCCGAGCAAGTAC	0.577																																						uc004dyn.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(1123-1125)cGg>cAg		Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						107.0	70.0	83.0					X																	70147393		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70147393C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1124G>A	X.37:g.70147393C>T	ENSP00000363417:p.Arg375Gln					SLC7A3_uc004dyo.3_Missense_Mutation_p.R375Q	p.R375Q	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			6	1298	-	Renal(35;0.156)		375					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.1124G>A	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	6.461	0.453177	0.12283	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89485	-2.52;-2.52	4.96	1.17	0.20885	Amino acid permease domain (1);	0.265891	0.41396	D	0.000898	T	0.77198	0.4095	N	0.19112	0.55	0.09310	N	1	B	0.21225	0.053	B	0.19391	0.025	T	0.60762	-0.7199	10	0.23302	T	0.38	.	8.1642	0.31217	0.0:0.5776:0.0:0.4224	.	375	Q8WY07	CTR3_HUMAN	Q	375	ENSP00000363417:R375Q;ENSP00000298085:R375Q	ENSP00000298085:R375Q	R	-	2	0	SLC7A3	70064118	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-0.694000	0.05115	-0.081000	0.12662	0.436000	0.28706	CGG		0.577	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803	
RAB40A	142684	broad.mit.edu	37	X	102755508	102755508	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:102755508G>A	ENST00000372633.1	-	1	2295	c.177C>T	c.(175-177)gaC>gaT	p.D59D	RAB40A_ENST00000304236.1_Silent_p.D59D|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	59					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CCCGCTGGCCGTCCAGCAGGA	0.587																																						uc022cbs.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(175-177)gaC>gaT		Homo sapiens RAB40A, member RAS oncogene family (RAB40A), mRNA.							103.0	90.0	95.0					X																	102755508		2203	4300	6503	SO:0001819	synonymous_variant	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102755508G>A	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.177C>T	X.37:g.102755508G>A						RAB40A_uc004ekk.3_Silent_p.D59D	p.D59D	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN			0	177	-			59					O00407|Q17RQ5|Q6DK06|Q8TF06	Silent	SNP	ENST00000372633.1	37	c.177C>T	CCDS35357.1																																																																																				0.587	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1		
NRK	203447	broad.mit.edu	37	X	105179166	105179166	+	Silent	SNP	C	C	T	rs56273831		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:105179166C>T	ENST00000243300.9	+	21	3807	c.3504C>T	c.(3502-3504)taC>taT	p.Y1168Y	NRK_ENST00000428173.2_Silent_p.Y1169Y	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1168					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTGCAGTATACGCTGGATTCG	0.383										HNSCC(51;0.14)			C|||	1	0.000264901	0.0008	0.0	3775	,	,		11956	0.0		0.0	False		,,,				2504	0.0					uc004emd.3																			0		p.Y1168C(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(3502-3504)taC>taT		Homo sapiens Nik related kinase (NRK), mRNA.							165.0	146.0	152.0					X																	105179166		1880	4096	5976	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105179166C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3504C>T	X.37:g.105179166C>T		HNSCC(51;0.14)				NRK_uc010npc.1_Silent_p.Y836Y	p.Y1168Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			20	3807	+			1168					Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.3504C>T																																																																																					0.383	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
RNF128	79589	broad.mit.edu	37	X	105970562	105970562	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:105970562C>T	ENST00000255499.2	+	1	669	c.419C>T	c.(418-420)gCg>gTg	p.A140V	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	140	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GAGAGAGGGGCGTCTGGAGCC	0.597																																						uc004eml.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(418-420)gCg>gTg		Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.							54.0	49.0	51.0					X																	105970562		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970562C>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.419C>T	X.37:g.105970562C>T	ENSP00000255499:p.Ala140Val					RNF128_uc004emk.3_Intron	p.A140V	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			0	669	+			140			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.419C>T	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017467	0.75161	.	.	ENSG00000133135	ENST00000255499	T	0.19532	2.14	4.29	3.43	0.39272	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	M	0.91612	3.225	0.48632	D	0.999682	D	0.89917	1.0	D	0.97110	1.0	T	0.50457	-0.8826	10	0.49607	T	0.09	.	7.8746	0.29586	0.0:0.8792:0.0:0.1208	.	140	Q8TEB7	RN128_HUMAN	V	140	ENSP00000255499:A140V	ENSP00000255499:A140V	A	+	2	0	RNF128	105857218	1.000000	0.71417	0.998000	0.56505	0.780000	0.44128	5.634000	0.67833	0.778000	0.33520	0.600000	0.82982	GCG		0.597	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539	
DOCK11	139818	broad.mit.edu	37	X	117748686	117748686	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:117748686T>C	ENST00000276202.7	+	29	3191	c.3128T>C	c.(3127-3129)aTt>aCt	p.I1043T	DOCK11_ENST00000276204.6_Missense_Mutation_p.I1043T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1043					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGAGGATTTATTTTCAATTTA	0.299																																						uc004eqp.2																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(3127-3129)aTt>aCt		Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.							77.0	83.0	81.0					X																	117748686		2203	4295	6498	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117748686T>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3128T>C	X.37:g.117748686T>C	ENSP00000276202:p.Ile1043Thr					DOCK11_uc004eqq.2_Missense_Mutation_p.I809T	p.I1043T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			28	3191	+			1043					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.3128T>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383310	0.42207	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.66995	-0.24;-0.24	5.39	5.39	0.77823	.	0.295570	0.36555	N	0.002526	T	0.55862	0.1947	N	0.26042	0.785	0.28157	N	0.929147	B;B	0.16166	0.016;0.016	B;B	0.17098	0.017;0.017	T	0.56153	-0.8026	10	0.66056	D	0.02	-10.7705	14.6089	0.68501	0.0:0.0:0.0:1.0	.	1043;1043	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1043	ENSP00000276204:I1043T;ENSP00000276202:I1043T	ENSP00000276202:I1043T	I	+	2	0	DOCK11	117632714	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.191000	0.50981	1.899000	0.54978	0.441000	0.28932	ATT		0.299	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
USP26	83844	broad.mit.edu	37	X	132161937	132161937	+	Silent	SNP	G	G	A	rs142413133	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:132161937G>A	ENST00000511190.1	-	6	781	c.312C>T	c.(310-312)aaC>aaT	p.N104N	USP26_ENST00000370832.1_Silent_p.N104N|USP26_ENST00000406273.1_Silent_p.N104N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	104					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCTGAACCTCGTTTTGATGAA	0.383													G|||	6	0.0015894	0.0045	0.0	3775	,	,		13818	0.0		0.0	False		,,,				2504	0.0				NSCLC(104;342 1621 36940 47097 52632)	uc011mvf.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(310-312)aaC>aaT		Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.		G		8,3827		0,7,1,1625,570	82.0	72.0	75.0		312	-7.9	0.0	X	dbSNP_134	75	0,6726		0,0,0,2427,1872	no	coding-synonymous	USP26	NM_031907.1		0,7,1,4052,2442	AA,AG,A,GG,G		0.0,0.2086,0.0758		104/914	132161937	8,10553	2203	4299	6502	SO:0001819	synonymous_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161937G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.312C>T	X.37:g.132161937G>A						USP26_uc010nrm.1_Silent_p.N104N	p.N104N	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			0	364	-	Acute lymphoblastic leukemia(192;0.000127)		104					B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	c.312C>T	CCDS14635.1																																																																																				0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907	
ZNF75D	7626	broad.mit.edu	37	X	134426220	134426220	+	Silent	SNP	A	A	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:134426220A>G	ENST00000370766.3	-	4	3300	c.591T>C	c.(589-591)ccT>ccC	p.P197P	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	197					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTTCATATACAGGCTGGGTTT	0.463																																						uc022ceq.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(589-591)ccT>ccC		Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.							120.0	109.0	112.0					X																	134426220		2203	4300	6503	SO:0001819	synonymous_variant	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134426220A>G	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.591T>C	X.37:g.134426220A>G						DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Intron	p.P197P	NM_007131	NP_009062	P51815	ZN75D_HUMAN			2	981	-			197					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Silent	SNP	ENST00000370766.3	37	c.591T>C	CCDS14648.1																																																																																				0.463	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131	
PASD1	139135	broad.mit.edu	37	X	150840069	150840069	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:150840069G>A	ENST00000370357.4	+	13	1500	c.1255G>A	c.(1255-1257)Gtt>Att	p.V419I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	419						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATTACGCCACGTTGTCATTCC	0.498																																						uc004fev.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1255-1257)Gtt>Att		Homo sapiens PAS domain containing 1 (PASD1), mRNA.							214.0	170.0	185.0					X																	150840069		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150840069G>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1255G>A	X.37:g.150840069G>A	ENSP00000359382:p.Val419Ile						p.V419I	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			12	1587	+	Acute lymphoblastic leukemia(192;6.56e-05)		419					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1255G>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.248262	0.01469	.	.	ENSG00000166049	ENST00000370357	T	0.18960	2.18	3.64	-7.27	0.01461	.	.	.	.	.	T	0.07999	0.0200	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31364	-0.9946	9	0.07325	T	0.83	-24.4203	8.8706	0.35314	0.1418:0.1169:0.6324:0.1088	.	419	Q8IV76	PASD1_HUMAN	I	419	ENSP00000359382:V419I	ENSP00000359382:V419I	V	+	1	0	PASD1	150590725	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.425000	0.00475	-3.339000	0.00184	-1.426000	0.01102	GTT		0.498	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	
