#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RPL5	6125	broad.mit.edu	37	1	93306107	93306107	+	Splice_Site	SNP	G	G	T			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr1:93306107G>T	ENST00000370321.3	+	7	795		c.e7-1		SNORA66_ENST00000384792.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CTTTGTTTCAGATGGAGGAGA	0.373																																							uc001doz.2		NA																	0					0						c.e7-1		ribosomal protein L5							142.0	145.0	144.0					1																	93306107		2203	4300	6503	SO:0001630	splice_region_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93306107G>T	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.706-1G>T	1.37:g.93306107G>T						FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Splice_Site|RPL5_uc001dpb.2_Splice_Site_p.M186_splice|RPL5_uc001dpd.2_Splice_Site_p.M37_splice|SNORA66_uc009wdi.1_5'Flank	p.M236_splice	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	7	784	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)						Q32LZ3|Q53HH6|Q9H3F4	Splice_Site	SNP	ENST00000370321.3	37	c.706_splice	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332170	0.81801	.	.	ENSG00000122406	ENST00000432788;ENST00000370321	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2432	0.93891	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL5	93078695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.797000	0.99108	2.609000	0.88269	0.655000	0.94253	.		0.373	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	Intron	6	111	1	0	3.59834e-05	0.001168	4.21269e-05	6	111				
NBPF10	100132406	broad.mit.edu	37	1	145296510	145296510	+	Silent	SNP	C	C	G			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr1:145296510C>G	ENST00000342960.5	+	3	467	c.432C>G	c.(430-432)ctC>ctG	p.L144L	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	144						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGCAGGACCTCCAAGAACAGC	0.592																																							uc001end.3		NA																	0					0						c.(430-432)CTC>CTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145296510C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.432C>G	1.37:g.145296510C>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Silent_p.L144L|NBPF10_uc001emq.1_Intron	p.L144L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	467	+	all_hematologic(923;0.032)		144					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.432C>G	CCDS53355.1																																																																																				0.592	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	195	0	0	0	0.000602	0	4	195				
ATP1A4	480	broad.mit.edu	37	1	160147371	160147371	+	Silent	SNP	A	A	C			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr1:160147371A>C	ENST00000368081.4	+	18	3124	c.2653A>C	c.(2653-2655)Agg>Cgg	p.R885R	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Silent_p.R21R	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	885					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAATGGTTTTAGGCCTGTTGA	0.507																																							uc001fve.3		NA																	0				ovary(2)|skin(2)	4						c.(2653-2655)AGG>CGG		Na+/K+ -ATPase alpha 4 subunit isoform 1							160.0	147.0	151.0					1																	160147371		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160147371A>C	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2653A>C	1.37:g.160147371A>C						ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.R388R|ATP1A4_uc001fvh.2_Silent_p.R21R	p.R885R	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		18	3132	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		885			Extracellular (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.2653A>C	CCDS1197.1																																																																																				0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		4	98	0	0	0	0.000248	0	4	98				
CHRM3	1131	broad.mit.edu	37	1	240072343	240072343	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr1:240072343G>T	ENST00000255380.4	+	5	2371	c.1592G>T	c.(1591-1593)tGg>tTg	p.W531L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTGGGCTACTGGCTGTGCTAC	0.488																																							uc001hyp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1591-1593)TGG>TTG		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						119.0	100.0	107.0					1																	240072343		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072343G>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1592G>T	1.37:g.240072343G>T	ENSP00000255380:p.Trp531Leu						p.W531L	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2371	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	531			Helical; Name=7; (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1592G>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239294	0.79800	.	.	ENSG00000133019	ENST00000255380	T	0.72835	-0.69	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87961	0.2730	10	0.87932	D	0	-8.1526	19.8984	0.96975	0.0:0.0:1.0:0.0	.	531	P20309	ACM3_HUMAN	L	531	ENSP00000255380:W531L	ENSP00000255380:W531L	W	+	2	0	CHRM3	238138966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.713000	0.92767	0.655000	0.94253	TGG		0.488	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		8	103	1	0	1.06961e-07	0.00308	1.35109e-07	8	103				
OR2T12	127064	broad.mit.edu	37	1	248458842	248458842	+	Silent	SNP	T	T	C			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr1:248458842T>C	ENST00000317996.1	-	1	38	c.39A>G	c.(37-39)ctA>ctG	p.L13L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAAAGAGTCCTAGGAGAATAA	0.448																																							uc010pzj.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(37-39)CTA>CTG		olfactory receptor, family 2, subfamily T,							77.0	78.0	78.0					1																	248458842		2203	4298	6501	SO:0001819	synonymous_variant	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458842T>C	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.39A>G	1.37:g.248458842T>C							p.L13L	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	39	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		13			Extracellular (Potential).			Silent	SNP	ENST00000317996.1	37	c.39A>G	CCDS31110.1																																																																																				0.448	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		4	102	0	0	0	0.001984	0	4	102				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																							uc010qex.1		NA																	0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	60	0	0	0	0.004672	0	3	60				
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G	rs559230605	byFrequency	TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000334888.5_Splice_Site_p.G46G|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644						uc010rlj.1		NA																	3	Substitution - coding silent(3)		prostate(2)|endometrium(1)		0						c.(115-117)GGT>GGG		transmembrane protein 216							84.0	93.0	90.0					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_uc001nrn.1_5'UTR	p.G39G	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN			3	410	+			39					A8MZ23|B7Z8N1	Silent	SNP	ENST00000515837.2	37	c.117T>G	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	16	30	0	0	0	0.00632	0	16	30				
FAT3	120114	broad.mit.edu	37	11	92613995	92613995	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr11:92613995G>A	ENST00000298047.6	+	22	12243	c.12226G>A	c.(12226-12228)Gat>Aat	p.D4076N	FAT3_ENST00000525166.1_Missense_Mutation_p.D3926N|FAT3_ENST00000533797.1_Missense_Mutation_p.D411N|FAT3_ENST00000409404.2_Missense_Mutation_p.D4076N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4076	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGATCCTGCGATCCAATAGG	0.453										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(12226-12228)GAT>AAT		FAT tumor suppressor homolog 3							195.0	197.0	196.0					11																	92613995		1915	4122	6037	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92613995G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12226G>A	11.37:g.92613995G>A	ENSP00000298047:p.Asp4076Asn	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.D516N	p.D4076N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			22	12243	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4076			EGF-like 3.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12226G>A		.	.	.	.	.	.	.	.	.	.	G	15.69	2.906667	0.52333	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	6.16	6.16	0.99307	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81437	0.4822	N	0.11756	0.17	0.80722	D	1	D;B	0.54047	0.964;0.306	P;B	0.46452	0.517;0.094	T	0.78505	-0.2178	9	0.18276	T	0.48	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	4076;4076	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	N	4076;4076;3926;411	ENSP00000298047:D4076N;ENSP00000387040:D4076N;ENSP00000432586:D3926N;ENSP00000436399:D411N	ENSP00000298047:D4076N	D	+	1	0	FAT3	92253643	0.998000	0.40836	0.999000	0.59377	0.941000	0.58515	3.242000	0.51384	2.937000	0.99478	0.650000	0.86243	GAT		0.453	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		15	214	0	0	0	0.004007	0	15	214				
A2M	2	broad.mit.edu	37	12	9262615	9262615	+	Missense_Mutation	SNP	C	C	T	rs369574498		TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr12:9262615C>T	ENST00000318602.7	-	6	828	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	174					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.R174H(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTGTGCGATGCGATTTCCTTT	0.423																																							uc001qvk.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(4)|skin(1)	5						c.(520-522)CGC>CAC		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)	C	HIS/ARG	0,3972		0,0,1986	107.0	112.0	110.0		521	5.8	1.0	12		110	1,8437		0,1,4218	no	missense	A2M	NM_000014.4	29	0,1,6204	TT,TC,CC		0.0119,0.0,0.0081	probably-damaging	174/1475	9262615	1,12409	1986	4219	6205	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9262615C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.521G>A	12.37:g.9262615C>T	ENSP00000323929:p.Arg174His					A2M_uc009zgk.1_Missense_Mutation_p.R24H	p.R174H	NM_000014	NP_000005	P01023	A2MG_HUMAN			6	634	-			174					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.521G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593523	0.86953	0.0	1.19E-4	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.75050	-0.9	5.82	5.82	0.92795	Alpha-2-macroglobulin, N-terminal (1);	0.069386	0.64402	D	0.000010	D	0.89518	0.6738	M	0.93283	3.4	0.40438	D	0.980015	D	0.89917	1.0	D	0.77004	0.989	D	0.91998	0.5608	10	0.87932	D	0	.	15.5992	0.76611	0.0:1.0:0.0:0.0	.	174	P01023	A2MG_HUMAN	H	174;189	ENSP00000323929:R174H	ENSP00000323929:R174H	R	-	2	0	A2M	9153882	0.990000	0.36364	1.000000	0.80357	0.979000	0.70002	2.980000	0.49321	2.752000	0.94435	0.655000	0.94253	CGC		0.423	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		9	125	0	0	0	0.008291	0	9	125				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GAT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	p.G12D	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		4	28	0	0	0	0.000602	0	4	28				
SCN8A	6334	broad.mit.edu	37	12	52164405	52164405	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr12:52164405G>A	ENST00000354534.6	+	19	3761	c.3583G>A	c.(3583-3585)Gtg>Atg	p.V1195M	SCN8A_ENST00000545061.1_Missense_Mutation_p.V1195M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1195					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTTCCTCATCGTGGAGCACAA	0.567																																							uc001ryw.2		NA																	0				ovary(7)	7						c.(3583-3585)GTG>ATG		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						102.0	106.0	105.0					12																	52164405		2202	4300	6502	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52164405G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3583G>A	12.37:g.52164405G>A	ENSP00000346534:p.Val1195Met					SCN8A_uc010snl.1_Missense_Mutation_p.V1060M	p.V1195M	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	19	3761	+			1195			III.|Helical; Name=S1 of repeat III; (Potential).		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.3583G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967962	0.92855	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.90788	-2.73;-2.73;-2.73	5.17	5.17	0.71159	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.97207	0.9087	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98023	1.0372	10	0.87932	D	0	.	19.2561	0.93947	0.0:0.0:1.0:0.0	.	1195;1195	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	M	1195;1195;1195;1108	ENSP00000346534:V1195M;ENSP00000440360:V1195M;ENSP00000347255:V1195M	ENSP00000346534:V1195M	V	+	1	0	SCN8A	50450672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	GTG		0.567	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		3	42	0	0	0	0.004672	0	3	42				
ZKSCAN2	342357	broad.mit.edu	37	16	25258179	25258179	+	Silent	SNP	T	T	C			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr16:25258179T>C	ENST00000328086.7	-	5	2141	c.1338A>G	c.(1336-1338)agA>agG	p.R446R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	446					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCTCTTCAGTCTGGGGACAG	0.483																																							uc002dod.3		NA																	0				ovary(3)|breast(1)	4						c.(1336-1338)AGA>AGG		zinc finger with KRAB and SCAN domains 2							171.0	142.0	152.0					16																	25258179		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258179T>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1338A>G	16.37:g.25258179T>C						ZKSCAN2_uc010vcl.1_Silent_p.R242R|ZKSCAN2_uc002doe.2_Silent_p.R446R	p.R446R	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	1745	-			446					A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.1338A>G	CCDS32410.1																																																																																				0.483	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		5	118	0	0	0	0.001168	0	5	118				
ALOX15	246	broad.mit.edu	37	17	4535037	4535037	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr17:4535037C>T	ENST00000570836.1	-	15	1943	c.1847G>A	c.(1846-1848)gGc>gAc	p.G616D	ALOX15_ENST00000545513.1_Missense_Mutation_p.G638D|ALOX15_ENST00000293761.3_Missense_Mutation_p.G616D|ALOX15_ENST00000574640.1_Missense_Mutation_p.G577D			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	616	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		AGGCTCAGGGCCCGAAAAATA	0.572																																							uc002fyh.2		NA																	0				skin(3)|ovary(1)|lung(1)	5						c.(1846-1848)GGC>GAC		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						117.0	116.0	117.0					17																	4535037		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4535037C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1847G>A	17.37:g.4535037C>T	ENSP00000458832:p.Gly616Asp					ALOX15_uc010vsd.1_Missense_Mutation_p.G577D|ALOX15_uc010vse.1_Missense_Mutation_p.G638D	p.G616D	NM_001140	NP_001131	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	14	1861	-			616			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.1847G>A	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	0.085	-1.177215	0.01633	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.04809	3.55;3.55	3.99	0.753	0.18404	Lipoxygenase, C-terminal (3);	0.225948	0.36665	N	0.002467	T	0.02083	0.0065	N	0.04686	-0.185	0.09310	N	1	B;B;B	0.27117	0.139;0.071;0.168	B;B;B	0.29785	0.057;0.107;0.095	T	0.48875	-0.8996	10	0.14656	T	0.56	-0.0127	5.7473	0.18128	0.0:0.6126:0.0:0.3874	.	638;577;616	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	D	616;638	ENSP00000293761:G616D;ENSP00000439855:G638D	ENSP00000293761:G616D	G	-	2	0	ALOX15	4481786	0.000000	0.05858	0.090000	0.20809	0.780000	0.44128	0.457000	0.21875	0.336000	0.23639	0.563000	0.77884	GGC		0.572	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			6	161	0	0	0	0.001168	0	6	161				
SPOP	8405	broad.mit.edu	37	17	47696461	47696461	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr17:47696461C>T	ENST00000393328.2	-	6	727	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.R121Q|SPOP_ENST00000503676.1_Missense_Mutation_p.R121Q|SPOP_ENST00000393331.3_Missense_Mutation_p.R121Q|SPOP_ENST00000504102.1_Missense_Mutation_p.R121Q	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	121	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.R121Q(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCTATATGCCCGTTGACTCTC	0.433										Prostate(2;0.17)																													uc010dbk.2		NA																	1	Substitution - Missense(1)		endometrium(1)	prostate(2)|ovary(2)|lung(2)	6						c.(361-363)CGG>CAG		speckle-type POZ protein							113.0	118.0	116.0					17																	47696461		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696461C>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.362G>A	17.37:g.47696461C>T	ENSP00000377001:p.Arg121Gln	Prostate(2;0.17)				SPOP_uc002ipb.2_Missense_Mutation_p.R121Q|SPOP_uc002ipc.2_Missense_Mutation_p.R121Q|SPOP_uc002ipd.2_Missense_Mutation_p.R121Q|SPOP_uc002ipe.2_Missense_Mutation_p.R121Q|SPOP_uc002ipf.2_Missense_Mutation_p.R121Q|SPOP_uc002ipg.2_Missense_Mutation_p.R121Q	p.R121Q	NM_003563	NP_003554	O43791	SPOP_HUMAN			6	994	-			121			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.362G>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347651	0.82022	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	L	0.56396	1.775	0.80722	D	1	B	0.28439	0.212	B	0.18263	0.021	T	0.54275	-0.8318	10	0.15066	T	0.55	-0.2309	19.2223	0.93803	0.0:1.0:0.0:0.0	.	121	O43791	SPOP_HUMAN	Q	121;121;121;121;5;121;74;121;121;121;121	ENSP00000377001:R121Q;ENSP00000377004:R121Q;ENSP00000240327:R121Q;ENSP00000425905:R121Q;ENSP00000420908:R121Q;ENSP00000426986:R121Q;ENSP00000420960:R121Q;ENSP00000426262:R121Q;ENSP00000424119:R121Q	ENSP00000240327:R121Q	R	-	2	0	SPOP	45051460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.647000	0.83462	2.873000	0.98535	0.563000	0.77884	CGG		0.433	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		6	159	0	0	0	0.001168	0	6	159				
NLRP5	126206	broad.mit.edu	37	19	56539197	56539197	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr19:56539197G>A	ENST00000390649.3	+	7	1598	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	533	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R533H(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGCTTCTGCCGTATGGCTGTG	0.572																																							uc002qmj.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|central_nervous_system(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1597-1599)CGT>CAT		NACHT, LRR and PYD containing protein 5							49.0	52.0	51.0					19																	56539197		2117	4226	6343	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539197G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1598G>A	19.37:g.56539197G>A	ENSP00000375063:p.Arg533His					NLRP5_uc002qmi.2_Missense_Mutation_p.R514H	p.R533H	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1598	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	533			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1598G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	5.054	0.195705	0.09599	.	.	ENSG00000171487	ENST00000390649	T	0.73363	-0.74	2.97	-5.91	0.02269	.	1.292300	0.05966	N	0.641470	T	0.57169	0.2035	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.40079	-0.9582	10	0.42905	T	0.14	.	3.2403	0.06778	0.4157:0.0:0.2803:0.304	.	533	P59047	NALP5_HUMAN	H	533	ENSP00000375063:R533H	ENSP00000375063:R533H	R	+	2	0	NLRP5	61231009	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.349000	0.07731	-1.130000	0.02914	0.555000	0.69702	CGT		0.572	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		5	23	0	0	0	0.000602	0	5	23				
ARHGAP25	9938	broad.mit.edu	37	2	69045090	69045090	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr2:69045090A>G	ENST00000295381.3	+	8	1383	c.964A>G	c.(964-966)Agg>Ggg	p.R322G	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R16G|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R323G|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R316G|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R315G|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R283G|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R316G	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	322	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GAATCTCATCAGGTCGAAGGT	0.478																																							uc002seu.2		NA																	0				ovary(2)|breast(2)	4						c.(964-966)AGG>GGG		Rho GTPase activating protein 25 isoform a							171.0	155.0	161.0					2																	69045090		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69045090A>G	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.964A>G	2.37:g.69045090A>G	ENSP00000295381:p.Arg322Gly					ARHGAP25_uc010fdg.2_Missense_Mutation_p.R323G|ARHGAP25_uc010yql.1_Missense_Mutation_p.R283G|ARHGAP25_uc002sev.2_Missense_Mutation_p.R316G|ARHGAP25_uc002sew.2_Missense_Mutation_p.R315G|ARHGAP25_uc002sex.2_Missense_Mutation_p.R316G|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_Missense_Mutation_p.R49G	p.R322G	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			8	1328	+			322			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.964A>G		.	.	.	.	.	.	.	.	.	.	A	18.50	3.637503	0.67130	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	T;T;T;T;T;T;T	0.26067	1.99;1.99;1.99;1.99;1.99;1.99;1.76	5.32	2.88	0.33553	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.090386	0.85682	D	0.000000	T	0.51534	0.1680	M	0.82630	2.6	0.80722	D	1	P;P;P;P;P;D	0.62365	0.801;0.763;0.763;0.804;0.763;0.991	P;B;B;P;B;D	0.74674	0.516;0.382;0.163;0.462;0.382;0.984	T	0.55958	-0.8058	10	0.72032	D	0.01	.	12.5929	0.56453	0.6054:0.3946:0.0:0.0	.	283;323;316;315;316;322	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	G	322;323;283;315;316;316;316;307;16	ENSP00000295381:R322G;ENSP00000386911:R323G;ENSP00000420583:R283G;ENSP00000386863:R315G;ENSP00000386241:R316G;ENSP00000417139:R316G;ENSP00000417467:R16G	ENSP00000295381:R322G	R	+	1	2	ARHGAP25	68898594	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	1.350000	0.34010	0.446000	0.26666	0.528000	0.53228	AGG		0.478	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		3	62	0	0	0	0.004672	0	3	62				
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																							uc010yxx.1		NA																	0					0						c.(382-384)TAG>CAG		SubName: Full=DEAD/H box polypeptide 11 like 2;																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							3	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		4	35	0	0	0	0.000248	0	4	35				
SLC39A10	57181	broad.mit.edu	37	2	196593042	196593042	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr2:196593042G>A	ENST00000409086.3	+	9	2581	c.2306G>A	c.(2305-2307)gGc>gAc	p.G769D	SLC39A10_ENST00000359634.5_Missense_Mutation_p.G769D|SLC39A10_ENST00000541054.1_Missense_Mutation_p.G319D	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	769					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTCACTGCAGGCATGTTCCTC	0.413																																							uc002utg.3		NA																	0				pancreas(1)|skin(1)	2						c.(2305-2307)GGC>GAC		solute carrier family 39 (zinc transporter),							234.0	199.0	210.0					2																	196593042		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196593042G>A		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.2306G>A	2.37:g.196593042G>A	ENSP00000386766:p.Gly769Asp					SLC39A10_uc002uth.3_Missense_Mutation_p.G769D|SLC39A10_uc010zgp.1_Missense_Mutation_p.G319D	p.G769D	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		9	2520	+			769			Helical; (Potential).		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.2306G>A	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623416	0.87460	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	D;D;D	0.96265	-3.96;-3.96;-3.96	5.26	4.37	0.52481	.	0.046382	0.85682	D	0.000000	D	0.98551	0.9516	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99790	1.1031	10	0.87932	D	0	.	15.9265	0.79621	0.0:0.1354:0.8646:0.0	.	769	Q9ULF5	S39AA_HUMAN	D	769;769;319	ENSP00000386766:G769D;ENSP00000352655:G769D;ENSP00000437787:G319D	ENSP00000352655:G769D	G	+	2	0	SLC39A10	196301287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.595000	0.98260	1.438000	0.47492	0.561000	0.74099	GGC		0.413	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		4	132	0	0	0	0.000248	0	4	132				
PECR	55825	broad.mit.edu	37	2	216931198	216931198	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr2:216931198C>G	ENST00000265322.7	-	2	242	c.168G>C	c.(166-168)aaG>aaC	p.K56N	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	56					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CTGCCGCAGACTTCAATCTCT	0.488																																							uc002vft.2		NA																	0					0						c.(166-168)AAG>AAC		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)						198.0	167.0	178.0					2																	216931198		2203	4300	6503	SO:0001583	missense	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216931198C>G	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.168G>C	2.37:g.216931198C>G	ENSP00000265322:p.Lys56Asn					PECR_uc010zjq.1_RNA|PECR_uc002vfr.2_5'UTR|PECR_uc002vfs.2_5'UTR|PECR_uc002vfu.1_Missense_Mutation_p.K75N	p.K56N	NM_018441	NP_060911	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	2	236	-		Renal(323;0.0327)	56					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	c.168G>C	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440042	0.25900	.	.	ENSG00000115425	ENST00000265322	T	0.22945	1.93	4.95	-5.74	0.02391	Apoptosis regulator, Bcl-2, BH (1);NAD(P)-binding domain (1);	0.328746	0.36200	N	0.002730	T	0.10809	0.0264	L	0.34521	1.04	0.21822	N	0.999524	B;B	0.15719	0.014;0.014	B;B	0.16722	0.016;0.016	T	0.17745	-1.0359	10	0.22109	T	0.4	.	0.8744	0.01220	0.2419:0.3221:0.2036:0.2325	.	56;56	B4DJS2;Q9BY49	.;PECR_HUMAN	N	56	ENSP00000265322:K56N	ENSP00000265322:K56N	K	-	3	2	PECR	216639443	0.135000	0.22499	0.000000	0.03702	0.035000	0.12851	0.349000	0.20055	-1.168000	0.02776	-0.423000	0.05987	AAG		0.488	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		4	110	0	0	0	0.000248	0	4	110				
ALPP	250	broad.mit.edu	37	2	233244593	233244593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr2:233244593C>T	ENST00000392027.2	+	5	873	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	202					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTCCGCCCGCCAGGAGGGGTG	0.672																																							uc002vsq.2		NA																	0				ovary(1)	1						c.(604-606)CAG>TAG		placental alkaline phosphatase preproprotein							59.0	62.0	61.0					2																	233244593		2203	4299	6502	SO:0001587	stop_gained	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244593C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.604C>T	2.37:g.233244593C>T	ENSP00000375881:p.Gln202*					ALPP_uc002vsr.2_5'Flank	p.Q202*	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	769	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	202					P05188|P06861|Q53S78|Q96DB7	Nonsense_Mutation	SNP	ENST00000392027.2	37	c.604C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	14.32	2.500504	0.44455	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.31	-0.269	0.12930	.	0.997243	0.08128	N	0.993695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	6.3242	0.21234	0.449:0.4274:0.1236:0.0	.	.	.	.	X	202	.	ENSP00000375881:Q202X	Q	+	1	0	ALPP	232952837	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.932000	0.03963	-0.225000	0.09913	0.298000	0.19748	CAG		0.672	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		4	58	0	0	0	0.000602	0	4	58				
ZDHHC8	29801	broad.mit.edu	37	22	20128845	20128845	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr22:20128845C>T	ENST00000334554.7	+	8	1141	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R242C|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R334C|ZDHHC8_ENST00000468112.1_3'UTR	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	334					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCAGACCCCGCGCCCAGGCAG	0.642																																							uc002zrq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1000-1002)CGC>TGC		zinc finger, DHHC domain containing 8							31.0	37.0	35.0					22																	20128845		2202	4300	6502	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20128845C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1000C>T	22.37:g.20128845C>T	ENSP00000334490:p.Arg334Cys					ZDHHC8_uc002zrr.1_Missense_Mutation_p.R334C|ZDHHC8_uc010gsa.2_Missense_Mutation_p.R140C	p.R334C	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			8	1106	+	Colorectal(54;0.0993)		334			Cytoplasmic (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.1000C>T	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	14.50	2.553291	0.45487	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.72942	1.3;-0.7;1.29	4.55	3.44	0.39384	.	0.225938	0.34628	N	0.003807	T	0.71358	0.3330	N	0.22421	0.69	0.37753	D	0.926042	D;D;D	0.71674	0.998;0.996;0.978	D;P;P	0.76071	0.987;0.862;0.608	T	0.74041	-0.3792	10	0.52906	T	0.07	.	9.7817	0.40651	0.2853:0.7147:0.0:0.0	.	242;334;334	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	C	334;242;334	ENSP00000334490:R334C;ENSP00000317804:R242C;ENSP00000384716:R334C	ENSP00000317804:R242C	R	+	1	0	ZDHHC8	18508845	0.047000	0.20315	0.873000	0.34254	0.359000	0.29487	0.618000	0.24373	1.008000	0.39264	0.655000	0.94253	CGC		0.642	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		3	39	0	0	0	0.000248	0	3	39				
PLXNB1	5364	broad.mit.edu	37	3	48453984	48453984	+	Missense_Mutation	SNP	G	G	A	rs367774740		TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr3:48453984G>A	ENST00000358536.4	-	26	5169	c.4900C>T	c.(4900-4902)Cgt>Tgt	p.R1634C	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1451C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1451C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1634C|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R245C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1634					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGTAGGCACGGTCCCGAGCT	0.587																																							uc003csw.2		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(4900-4902)CGT>TGT		plexin B1 precursor		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	58.0	56.0	56.0		4900,4900	4.9	1.0	3		56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PLXNB1	NM_001130082.1,NM_002673.4	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1634/2136,1634/2136	48453984	1,13005	2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48453984G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4900C>T	3.37:g.48453984G>A	ENSP00000351338:p.Arg1634Cys					PLXNB1_uc003cst.2_Missense_Mutation_p.R84C|PLXNB1_uc003csu.2_Missense_Mutation_p.R1451C|PLXNB1_uc003csx.2_Missense_Mutation_p.R1634C	p.R1634C	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	26	5170	-			1634			Cytoplasmic (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4900C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238806	0.79800	0.0	1.16E-4	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	4.94	4.94	0.65067	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63629	-0.6594	10	0.87932	D	0	.	17.3153	0.87221	0.0:0.0:1.0:0.0	.	1634;1451	O43157;O43157-2	PLXB1_HUMAN;.	C	1634;1451;1634;245;1451	ENSP00000296440:R1634C;ENSP00000351242:R1451C;ENSP00000351338:R1634C;ENSP00000389320:R245C;ENSP00000414199:R1451C	ENSP00000296440:R1634C	R	-	1	0	PLXNB1	48428988	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.266000	0.72540	2.555000	0.86185	0.551000	0.68910	CGT		0.587	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		5	50	0	0	0	0.000602	0	5	50				
UGT2B4	7363	broad.mit.edu	37	4	70355193	70355193	+	Silent	SNP	A	A	G			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr4:70355193A>G	ENST00000305107.6	-	3	1012	c.966T>C	c.(964-966)aaT>aaC	p.N322N	UGT2B4_ENST00000512583.1_Silent_p.N322N|UGT2B4_ENST00000381096.3_Silent_p.N186N|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	322					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ATGCAATTACATTGGCCCTTT	0.403																																							uc003hek.3		NA																	0				skin(2)	2						c.(964-966)AAT>AAC		UDP glucuronosyltransferase 2B4 precursor							169.0	164.0	165.0					4																	70355193		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70355193A>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.966T>C	4.37:g.70355193A>G						UGT2B4_uc011cap.1_Silent_p.N186N|UGT2B4_uc003hel.3_Silent_p.N322N	p.N322N	NM_021139	NP_066962	P06133	UD2B4_HUMAN			3	1013	-			322					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.966T>C	CCDS43234.1																																																																																				0.403	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		9	205	0	0	0	0.004482	0	9	205				
DAPP1	27071	broad.mit.edu	37	4	100761541	100761541	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr4:100761541A>G	ENST00000512369.1	+	3	388	c.320A>G	c.(319-321)aAg>aGg	p.K107R	DAPP1_ENST00000296414.7_Missense_Mutation_p.K107R	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	107	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GATTTTGTCAAGCATTTTGCA	0.363																																							uc003hvf.3		NA																	0					0						c.(319-321)AAG>AGG		dual adaptor of phosphotyrosine and							64.0	59.0	61.0					4																	100761541		1840	4084	5924	SO:0001583	missense	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100761541A>G	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.320A>G	4.37:g.100761541A>G	ENSP00000423602:p.Lys107Arg					DAPP1_uc011cek.1_Missense_Mutation_p.K107R|DAPP1_uc010ilh.2_Missense_Mutation_p.K107R	p.K107R	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	3	410	+			107			SH2.		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	c.320A>G	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.278303	0.40294	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.88586	-2.4;-2.4	5.55	4.33	0.51752	SH2 motif (5);	0.379964	0.31660	N	0.007278	T	0.78904	0.4357	N	0.17723	0.515	0.27765	N	0.943705	P;B;B	0.36438	0.553;0.435;0.351	B;B;B	0.37387	0.248;0.08;0.187	T	0.67995	-0.5526	10	0.19147	T	0.46	-3.7702	8.2278	0.31579	0.7294:0.1382:0.0:0.1323	.	107;107;107	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	R	107	ENSP00000296414:K107R;ENSP00000423602:K107R	ENSP00000296414:K107R	K	+	2	0	DAPP1	100980564	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.076000	0.50081	0.904000	0.36572	0.533000	0.62120	AAG		0.363	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			4	35	0	0	0	0.000248	0	4	35				
CDH9	1007	broad.mit.edu	37	5	26915914	26915914	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr5:26915914A>T	ENST00000231021.4	-	3	519	c.347T>A	c.(346-348)cTa>cAa	p.L116Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L116Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCTCTGTCTAGTTTCTTTGC	0.383																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(346-348)CTA>CAA		cadherin 9, type 2 preproprotein							146.0	148.0	147.0					5																	26915914		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915914A>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.347T>A	5.37:g.26915914A>T	ENSP00000231021:p.Leu116Gln					CDH9_uc010iug.2_Missense_Mutation_p.L116Q	p.L116Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	516	-			116			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.347T>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347488	0.82022	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.75154	-0.91;-0.91	4.62	4.62	0.57501	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.92205	0.7528	H	0.99634	4.67	0.50313	D	0.999861	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94943	0.8093	9	.	.	.	.	13.1622	0.59550	1.0:0.0:0.0:0.0	.	116;116	E7EPN0;Q9ULB4	.;CADH9_HUMAN	Q	116	ENSP00000231021:L116Q;ENSP00000426239:L116Q	.	L	-	2	0	CDH9	26951671	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	8.806000	0.91930	1.845000	0.53610	0.477000	0.44152	CTA		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		5	177	0	0	0	0.000602	0	5	177				
ZNF131	7690	broad.mit.edu	37	5	43139296	43139296	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr5:43139296A>C	ENST00000399534.1	+	4	300	c.256A>C	c.(256-258)Att>Ctt	p.I86L	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.I86L|ZNF131_ENST00000509634.1_Missense_Mutation_p.I86L|ZNF131_ENST00000505606.2_Missense_Mutation_p.I86L|ZNF131_ENST00000509156.1_Missense_Mutation_p.I86L			P52739	ZN131_HUMAN	zinc finger protein 131	86	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TCGCCATTTAATTGAGTTCAC	0.328																																							uc011cpw.1		NA																	0					0						c.(256-258)ATT>CTT		zinc finger protein 131							101.0	96.0	98.0					5																	43139296		1856	4095	5951	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43139296A>C	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.256A>C	5.37:g.43139296A>C	ENSP00000382450:p.Ile86Leu					ZNF131_uc010ivl.1_Missense_Mutation_p.I86L|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.I86L|ZNF131_uc003jnn.3_Intron|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_RNA	p.I86L	NM_003432	NP_003423	P52739	ZN131_HUMAN			4	292	+			86			BTB.		B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.256A>C		.	.	.	.	.	.	.	.	.	.	A	10.46	1.357799	0.24598	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000508259;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634;ENST00000509341	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.44	5.44	0.79542	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.044496	0.85682	D	0.000000	T	0.27866	0.0686	N	0.01446	-0.86	0.48185	D	0.999603	P;B	0.38129	0.619;0.42	P;B	0.52309	0.695;0.187	T	0.31280	-0.9949	10	0.02654	T	1	-13.1809	15.5032	0.75716	1.0:0.0:0.0:0.0	.	86;86	P52739;P52739-2	ZN131_HUMAN;.	L	86	ENSP00000422079:I86L;ENSP00000426504:I86L;ENSP00000422659:I86L;ENSP00000305804:I86L;ENSP00000382450:I86L;ENSP00000423945:I86L;ENSP00000421246:I86L;ENSP00000424771:I86L	ENSP00000305804:I86L	I	+	1	0	ZNF131	43175053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.584000	0.90798	2.048000	0.60808	0.533000	0.62120	ATT		0.328	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		4	94	0	0	0	0.000602	0	4	94				
SYNCRIP	10492	broad.mit.edu	37	6	86329003	86329003	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr6:86329003G>C	ENST00000369622.3	-	9	1641	c.1141C>G	c.(1141-1143)Cga>Gga	p.R381G	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.R381G	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	381	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCACCATCTCGCTCATCAAAA	0.333																																							uc003pla.2		NA																	0				ovary(2)	2						c.(1141-1143)CGA>GGA		synaptotagmin binding, cytoplasmic RNA							133.0	128.0	129.0					6																	86329003		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86329003G>C	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1141C>G	6.37:g.86329003G>C	ENSP00000358635:p.Arg381Gly					SYNCRIP_uc003pku.2_Missense_Mutation_p.R381G|SYNCRIP_uc003pkw.2_Missense_Mutation_p.R346G|SYNCRIP_uc003pky.2_Missense_Mutation_p.R283G|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R381G|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R229G|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R346G	p.R381G	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	9	1682	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	381			RRM 3.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1141C>G	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221670	0.58560	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.16457	2.34;2.34	5.18	3.22	0.36961	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.45470	1.425	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.999;0.999;1.0	T	0.04360	-1.0957	10	0.87932	D	0	.	14.2767	0.66184	0.0:0.0:0.7243:0.2756	.	381;346;283;229;346;381;381	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	G	381	ENSP00000347380:R381G;ENSP00000358635:R381G	ENSP00000347380:R381G	R	-	1	2	SYNCRIP	86385722	0.973000	0.33851	0.971000	0.41717	0.992000	0.81027	1.652000	0.37313	1.250000	0.43966	0.650000	0.86243	CGA		0.333	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		7	83	0	0	0	0.006214	0	7	83				
AHI1	54806	broad.mit.edu	37	6	135784313	135784313	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr6:135784313T>C	ENST00000367800.4	-	6	1097	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R|AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	294	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.Q294R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTATCATCTTGCATGCTGTC	0.313																																							uc003qgi.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(880-882)CAA>CGA		Abelson helper integration site 1 isoform a							129.0	114.0	119.0					6																	135784313		1852	4103	5955	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784313T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.881A>G	6.37:g.135784313T>C	ENSP00000356774:p.Gln294Arg					AHI1_uc003qgh.2_Missense_Mutation_p.Q294R|AHI1_uc003qgj.2_Missense_Mutation_p.Q294R|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.Q294R	p.Q294R	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	8	1265	-	Breast(56;0.239)|Colorectal(23;0.24)		294					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.881A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	3.317	-0.139492	0.06669	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.57107	0.42;0.42;0.42;1.63;0.93	4.34	2.06	0.26882	.	0.686507	0.13895	N	0.355342	T	0.26376	0.0644	L	0.51422	1.61	0.58432	D	0.999999	B;B	0.31125	0.145;0.309	B;B	0.21708	0.036;0.026	T	0.16512	-1.0400	10	0.66056	D	0.02	-4.9798	8.9169	0.35587	0.0:0.0:0.507:0.493	.	294;294	Q8N157-2;Q8N157	.;AHI1_HUMAN	R	294;294;294;294;294;276	ENSP00000356774:Q294R;ENSP00000388650:Q294R;ENSP00000265602:Q294R;ENSP00000322478:Q294R;ENSP00000433063:Q276R	ENSP00000265602:Q294R	Q	-	2	0	AHI1	135826006	0.083000	0.21467	0.245000	0.24217	0.019000	0.09904	1.142000	0.31540	0.484000	0.27630	0.383000	0.25322	CAA		0.313	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		4	70	0	0	0	0.000248	0	4	70				
TG	7038	broad.mit.edu	37	8	134034380	134034380	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr8:134034380G>A	ENST00000220616.4	+	40	7061	c.7021G>A	c.(7021-7023)Ggc>Agc	p.G2341S	TG_ENST00000519543.1_Missense_Mutation_p.G474S|TG_ENST00000542445.1_Missense_Mutation_p.G711S|TG_ENST00000377869.1_Missense_Mutation_p.G2284S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2341					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGTGTCTTCGGCTTCCTGAG	0.617																																							uc003ytw.2		NA																	0		p.G2341V(1)		ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7021-7023)GGC>AGC		thyroglobulin precursor							143.0	131.0	135.0					8																	134034380		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134034380G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7021G>A	8.37:g.134034380G>A	ENSP00000220616:p.Gly2341Ser					TG_uc010mdw.2_Missense_Mutation_p.G1100S|TG_uc011ljb.1_Missense_Mutation_p.G710S|TG_uc011ljc.1_Missense_Mutation_p.G474S	p.G2341S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	40	7062	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2341					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7021G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.409350|5.409350	0.96072|0.96072	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	D;D;D;D|.	0.87729|.	-2.29;-2.29;-2.29;-2.29|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Carboxylesterase, type B (1);|.	0.062211|.	0.64402|.	D|.	0.000006|.	D|D	0.88273|0.88273	0.6392|0.6392	H|H	0.96633|0.96633	3.855|3.855	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.91490|0.91490	0.5211|0.5211	10|5	0.87932|.	D|.	0|.	.|.	17.0766|17.0766	0.86588|0.86588	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	474;711;2341|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	S|Q	2284;1147;2341;711;474|796;136	ENSP00000367100:G2284S;ENSP00000220616:G2341S;ENSP00000441693:G711S;ENSP00000430430:G474S|.	ENSP00000220616:G2341S|.	G|R	+|+	1|2	0|0	TG|TG	134103562|134103562	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.976000|0.976000	0.68499|0.68499	8.497000|8.497000	0.90488|0.90488	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	123	0	0	0	0.00308	0	8	123				
ZNF268	10795	broad.mit.edu	37	12	133779606	133779606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr12:133779606delT	ENST00000536435.2	+	6	1664	c.1334delT	c.(1333-1335)gttfs	p.V445fs	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.V284fs|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.V445fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	445					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AAACCTTATGTTTGTAGTGAT	0.408																																							uc010tcf.1		NA																	0				ovary(1)	1						c.(1333-1335)GTTfs		zinc finger protein 268 isoform a							52.0	45.0	47.0					12																	133779606		692	1590	2282	SO:0001589	frameshift_variant	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133779606delT	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1334delT	12.37:g.133779606delT	ENSP00000444412:p.Val445fs					ZNF268_uc010tbv.1_Frame_Shift_Del_p.V284fs|ZNF268_uc010tbw.1_Frame_Shift_Del_p.V284fs|ZNF268_uc010tbx.1_Frame_Shift_Del_p.V305fs|ZNF268_uc010tby.1_Frame_Shift_Del_p.V284fs|ZNF268_uc010tbz.1_Frame_Shift_Del_p.V284fs|ZNF268_uc010tca.1_Frame_Shift_Del_p.V284fs|ZNF268_uc010tcb.1_Frame_Shift_Del_p.V305fs|ZNF268_uc010tcc.1_Frame_Shift_Del_p.V284fs|ZNF268_uc010tcd.1_Frame_Shift_Del_p.V284fs|ZNF268_uc010tce.1_Frame_Shift_Del_p.V284fs|ZNF268_uc010tcg.1_Frame_Shift_Del_p.V284fs|ZNF268_uc010tch.1_Frame_Shift_Del_p.V445fs	p.V445fs	NM_003415	NP_003406	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	1664	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	445			C2H2-type 7.		Q8TDG8|Q96RH4|Q9BZJ9	Frame_Shift_Del	DEL	ENST00000536435.2	37	c.1334delT	CCDS45012.1																																																																																				0.408	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-75-7030-01A-11D-1945-08	TCGA-75-7030-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d	9659d703-504e-4b47-a4f4-b376dbbbfbac	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																							uc002cto.2		NA																	0				pancreas(1)	1						c.(652-654)GACfs		interleukin 32 isoform B																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs	p.D218fs	NM_004221	NP_004212	P24001	IL32_HUMAN			6	864_865	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.653_654insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		8	301	NA	NA	NA	NA	NA	8	301	---	---	---	---
