#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PCDHB5	26167	broad.mit.edu	37	5	140516258	140516258	+	Silent	SNP	C	C	T			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr5:140516258C>T	ENST00000231134.5	+	1	1459	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGCCAAGCCGAGTACAACA	0.498																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1240-1242)gcC>gcT		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							132.0	118.0	122.0					5																	140516258		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516258C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1242C>T	5.37:g.140516258C>T							p.A414A	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1459	+			414			Cadherin 4.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1242C>T	CCDS4247.1																																																																																				0.498	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		42	72	0	0	0	1	0	42	72				
NLRP4	147945	broad.mit.edu	37	19	56373368	56373368	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:56373368G>A	ENST00000301295.6	+	5	2451	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	NLRP4_ENST00000587891.1_Missense_Mutation_p.V602I|NLRP4_ENST00000346986.5_Missense_Mutation_p.V677I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	677					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AATAAATAACGTTTCCTTTTC	0.423																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2029-2031)Gtt>Att		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							139.0	138.0	139.0					19																	56373368		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56373368G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2029G>A	19.37:g.56373368G>A	ENSP00000301295:p.Val677Ile					NLRP4_uc002qmf.3_Missense_Mutation_p.V602I|NLRP4_uc010etf.3_Missense_Mutation_p.V508I	p.V677I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2451	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	677					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2029G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631309	0.28978	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.52526	0.66;0.66	3.26	1.06	0.20224	.	.	.	.	.	T	0.52565	0.1742	L	0.46157	1.445	0.09310	N	1	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.87578	0.68;0.998;0.996	T	0.39014	-0.9634	9	0.23302	T	0.38	.	3.9261	0.09263	0.1273:0.0:0.6379:0.2348	.	677;602;677	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	677	ENSP00000301295:V677I;ENSP00000344787:V677I	ENSP00000301295:V677I	V	+	1	0	NLRP4	61065180	0.001000	0.12720	0.002000	0.10522	0.026000	0.11368	0.448000	0.21726	0.375000	0.24679	-0.311000	0.09066	GTT		0.423	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		33	63	0	0	0	1	0	33	63				
FNDC3A	22862	broad.mit.edu	37	13	49772502	49772502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr13:49772502C>T	ENST00000492622.2	+	23	3084	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.R927*|FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.R871*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	927	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACTTAGAATACGAATTCAAGC	0.368																																						uc001vcm.3																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2779-2781)Cga>Tga		Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.							88.0	86.0	87.0					13																	49772502		2203	4300	6503	SO:0001587	stop_gained	22862					Golgi membrane|integral to membrane		g.chr13:49772502C>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2779C>T	13.37:g.49772502C>T	ENSP00000417257:p.Arg927*					FNDC3A_uc001vcn.3_Nonsense_Mutation_p.R927*|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Nonsense_Mutation_p.R871*	p.R927*	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	22	3084	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	927			Fibronectin type-III 7.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Nonsense_Mutation	SNP	ENST00000492622.2	37	c.2779C>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	41	9.136227	0.99077	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	.	.	.	6.06	5.22	0.72569	.	0.000000	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4588	15.9153	0.79512	0.1361:0.8639:0.0:0.0	.	.	.	.	X	927;863;927;871	.	ENSP00000338579:R863X	R	+	1	2	FNDC3A	48670503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.613000	0.54152	1.557000	0.49525	0.650000	0.86243	CGA		0.368	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		6	64	0	0	0	1	0	6	64				
FBN2	2201	broad.mit.edu	37	5	127638774	127638774	+	Silent	SNP	A	A	G			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr5:127638774A>G	ENST00000508053.1	-	52	6782	c.5808T>C	c.(5806-5808)gaT>gaC	p.D1936D	FBN2_ENST00000262464.4_Silent_p.D1936D			P35556	FBN2_HUMAN	fibrillin 2	1936	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTCGCACTCATCAACATCTA	0.338																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5806-5808)gaT>gaC		Homo sapiens fibrillin 2 (FBN2), mRNA.							94.0	96.0	96.0					5																	127638774		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127638774A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5808T>C	5.37:g.127638774A>G							p.D1936D	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	45	6247	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1936			EGF-like 32; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.5808T>C	CCDS34222.1																																																																																				0.338	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		27	40	0	0	0	1	0	27	40				
IL16	3603	broad.mit.edu	37	15	81517814	81517814	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr15:81517814T>C	ENST00000302987.4	+	1	74	c.74T>C	c.(73-75)cTc>cCc	p.L25P	IL16_ENST00000394660.2_Missense_Mutation_p.L25P			Q14005	IL16_HUMAN	interleukin 16	25					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCCTGATGCTCTGTAATGCT	0.498																																						uc010unp.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(199-201)cTc>cCc		Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.							81.0	82.0	82.0					15																	81517814		2009	4187	6196	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81517814T>C	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.74T>C	15.37:g.81517814T>C	ENSP00000302935:p.Leu25Pro					IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.L25P|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc021ssg.1_Missense_Mutation_p.L25P|IL16_uc002bgg.3_Missense_Mutation_p.L25P|IL16_uc021ssh.1_Missense_Mutation_p.L25P	p.L67P	NM_172217	NP_001165599	Q14005	IL16_HUMAN			1	226	+			25					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.200T>C	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.241631	0.39598	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.21361	2.02;2.01	4.18	4.18	0.49190	.	0.000000	0.34777	N	0.003698	T	0.44829	0.1312	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.48043	-0.9069	10	0.87932	D	0	.	13.4093	0.60933	0.0:0.0:0.0:1.0	.	25;25	Q14005;Q14005-2	IL16_HUMAN;.	P	25;67;25;25	ENSP00000378155:L25P;ENSP00000302935:L25P	ENSP00000302935:L25P	L	+	2	0	IL16	79304869	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	5.190000	0.65104	1.751000	0.51876	0.460000	0.39030	CTC		0.498	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		15	25	0	0	0	1	0	15	25				
ADH4	127	broad.mit.edu	37	4	100047817	100047817	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr4:100047817T>A	ENST00000265512.7	-	8	1120	c.1046A>T	c.(1045-1047)gAt>gTt	p.D349V	ADH4_ENST00000423445.1_Missense_Mutation_p.D368V|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.D368V|ADH4_ENST00000508393.1_Missense_Mutation_p.D368V	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	349					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		CACCAGTGCATCCAGATTGAA	0.373																																						uc011ced.2																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(1102-1104)gAt>gTt		Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	NADH(DB00157)						138.0	134.0	135.0					4																	100047817		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100047817T>A	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1046A>T	4.37:g.100047817T>A	ENSP00000265512:p.Asp349Val					LOC100507053_uc003hum.2_Intron|ADH4_uc003hun.3_Missense_Mutation_p.D349V	p.D368V			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	8	1269	-			349					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.1103A>T	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615175	0.66672	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	4.75	3.58	0.41010	GroES-like (1);	0.000000	0.64402	U	0.000004	T	0.36110	0.0955	H	0.95004	3.61	0.80722	D	1	P;D	0.53619	0.898;0.961	P;P	0.57371	0.577;0.819	T	0.43261	-0.9402	10	0.87932	D	0	-5.1278	10.2182	0.43182	0.0:0.0781:0.0:0.9219	.	368;349	P08319-2;P08319	.;ADH4_HUMAN	V	368;349;368;368	ENSP00000424630:D368V;ENSP00000265512:D349V;ENSP00000397939:D368V;ENSP00000425416:D368V	ENSP00000265512:D349V	D	-	2	0	ADH4	100266840	1.000000	0.71417	0.678000	0.29963	0.897000	0.52465	5.703000	0.68340	0.859000	0.35456	0.533000	0.62120	GAT		0.373	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		20	56	0	0	0	1	0	20	56				
CLDN15	24146	broad.mit.edu	37	7	100880845	100880845	+	Silent	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr7:100880845T>C	ENST00000401528.1	-	2	1143	c.18A>G	c.(16-18)gaA>gaG	p.E6E	CLDN15_ENST00000433422.1_5'UTR|CLDN15_ENST00000308344.5_Silent_p.E6E|FIS1_ENST00000482199.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	6					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCCAAAGGTTTCCACAGCCA	0.622																																						uc003uyg.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10						c.(16-18)gaA>gaG		Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.							101.0	80.0	87.0					7																	100880845		2203	4300	6503	SO:0001819	synonymous_variant	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100880845T>C	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.18A>G	7.37:g.100880845T>C						CLDN15_uc003uyh.2_Silent_p.E6E|CLDN15_uc003uyi.3_Silent_p.E6E|CLDN15_uc022aja.1_Silent_p.E6E	p.E6E	NM_014343	NP_001172009	P56746	CLD15_HUMAN			0	383	-	Lung NSC(181;0.168)|all_lung(186;0.215)		6					B3KPB5	Silent	SNP	ENST00000401528.1	37	c.18A>G	CCDS5717.1																																																																																				0.622	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		4	38	0	0	0	1	0	4	38				
MAU2	23383	broad.mit.edu	37	19	19446536	19446536	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:19446536T>C	ENST00000392313.6	+	2	465	c.286T>C	c.(286-288)Tca>Cca	p.S96P	MAU2_ENST00000262815.8_Intron|MAU2_ENST00000586189.3_3'UTR	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	96	Sufficient for interaction with NIPBL.				maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GTGGTTGATATCACAGCAAGT	0.438																																						uc002nmk.4																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(286-288)Tca>Cca		Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.							155.0	159.0	158.0					19																	19446536		1892	4114	6006	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding	g.chr19:19446536T>C	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.286T>C	19.37:g.19446536T>C	ENSP00000376127:p.Ser96Pro						p.S96P	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN			1	325	+			96			Sufficient for interaction with NIPBL.		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.286T>C	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257411	0.59321	.	.	ENSG00000129933	ENST00000392313	T	0.76060	-0.99	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);	0.430942	0.23485	N	0.047663	T	0.67599	0.2910	L	0.41027	1.25	0.80722	D	1	B	0.24043	0.096	B	0.28553	0.091	T	0.63193	-0.6692	10	0.28530	T	0.3	.	14.3953	0.67007	0.0:0.0:0.0:1.0	.	96	Q9Y6X3	SCC4_HUMAN	P	96	ENSP00000376127:S96P	ENSP00000376127:S96P	S	+	1	0	MAU2	19307536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.992000	0.76238	2.090000	0.63153	0.533000	0.62120	TCA		0.438	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		24	68	0	0	0	1	0	24	68				
ATP11A	23250	broad.mit.edu	37	13	113487317	113487317	+	Silent	SNP	G	G	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr13:113487317G>C	ENST00000487903.1	+	14	1627	c.1539G>C	c.(1537-1539)gcG>gcC	p.A513A	ATP11A_ENST00000375645.3_Silent_p.A513A|ATP11A_ENST00000375630.2_Silent_p.A513A|ATP11A_ENST00000283558.8_Silent_p.A513A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	513					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGAGGTGGCGCTGGTCGAAG	0.627																																						uc001vsj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1537-1539)gcG>gcC		Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.							116.0	125.0	122.0					13																	113487317		2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113487317G>C	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1539G>C	13.37:g.113487317G>C						ATP11A_uc001vsi.4_Silent_p.A513A|ATP11A_uc001vsm.1_Silent_p.A389A	p.A513A	NM_032189	NP_115565	P98196	AT11A_HUMAN			13	1627	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	513					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.1539G>C	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330365	0.24167	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.71	-9.43	0.00607	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	0.7248	0.00947	0.2505:0.1769:0.3208:0.2518	.	.	.	.	P	488	.	.	R	+	2	0	ATP11A	112535318	0.000000	0.05858	0.037000	0.18230	0.958000	0.62258	-1.949000	0.01532	-1.991000	0.00976	0.561000	0.74099	CGC		0.627	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		18	180	0	0	0	1	0	18	180				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|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)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	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	Ras protein signal transduction|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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		60	88	0	0	0	1	0	60	88				
CNTN3	5067	broad.mit.edu	37	3	74315640	74315640	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr3:74315640C>G	ENST00000263665.6	-	21	3005	c.2978G>C	c.(2977-2979)cGa>cCa	p.R993P	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	993	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTGGTTATTCGTGGAATCCT	0.428																																						uc003dpm.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2977-2979)cGa>cCa		Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.							289.0	269.0	276.0					3																	74315640		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74315640C>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2978G>C	3.37:g.74315640C>G	ENSP00000263665:p.Arg993Pro						p.R993P	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	20	3058	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	993					B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2978G>C	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480441	0.63849	.	.	ENSG00000113805	ENST00000263665	T	0.47528	0.84	5.42	5.42	0.78866	Fibronectin, type III (1);	0.095905	0.64402	D	0.000001	T	0.40040	0.1101	N	0.14661	0.345	0.47621	D	0.999474	P	0.35684	0.515	P	0.44860	0.462	T	0.37314	-0.9711	10	0.45353	T	0.12	.	13.1937	0.59726	0.0:0.9229:0.0:0.0771	.	993	Q9P232	CNTN3_HUMAN	P	993	ENSP00000263665:R993P	ENSP00000263665:R993P	R	-	2	0	CNTN3	74398330	0.667000	0.27484	1.000000	0.80357	0.993000	0.82548	0.823000	0.27366	2.534000	0.85438	0.655000	0.94253	CGA		0.428	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		3	73	0	0	0	1	0	3	73				
PPM1J	333926	broad.mit.edu	37	1	113256123	113256123	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr1:113256123C>T	ENST00000309276.6	-	2	612	c.437G>A	c.(436-438)gGc>gAc	p.G146D	PPM1J_ENST00000359994.4_5'Flank|PPM1J_ENST00000464951.1_5'UTR|RP11-426L16.10_ENST00000606505.1_5'Flank|RP11-426L16.10_ENST00000471038.2_5'Flank|RP11-426L16.9_ENST00000566195.1_RNA	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	146	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTACCTGGCCTCGGCTAGG	0.562																																						uc001ect.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(436-438)gGc>gAc		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.							209.0	173.0	185.0					1																	113256123		2203	4300	6503	SO:0001583	missense	333926							g.chr1:113256123C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.437G>A	1.37:g.113256123C>T	ENSP00000308926:p.Gly146Asp					PPM1J_uc009wgl.1_5'Flank|PPM1J_uc001ecs.1_5'UTR	p.G146D	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	464	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	146			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.437G>A	CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	8.063	0.768646	0.15983	.	.	ENSG00000155367	ENST00000309276	T	0.30182	1.54	5.13	2.97	0.34412	Protein phosphatase 2C-like (4);	0.904437	0.09727	N	0.763669	T	0.07234	0.0183	L	0.36672	1.1	0.21984	N	0.99943	B	0.02656	0.0	B	0.04013	0.001	T	0.35649	-0.9780	10	0.15952	T	0.53	-2.6614	4.2695	0.10780	0.0:0.5915:0.0:0.4085	.	146	Q5JR12	PPM1J_HUMAN	D	146	ENSP00000308926:G146D	ENSP00000308926:G146D	G	-	2	0	PPM1J	113057646	0.930000	0.31532	0.661000	0.29709	0.323000	0.28346	1.964000	0.40462	1.130000	0.42092	0.561000	0.74099	GGC		0.562	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		5	59	0	0	0	1	0	5	59				
MTIF2	4528	broad.mit.edu	37	2	55470598	55470598	+	Silent	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr2:55470598T>C	ENST00000263629.4	-	12	1833	c.1518A>G	c.(1516-1518)aaA>aaG	p.K506K	MTIF2_ENST00000394600.3_Silent_p.K506K|MTIF2_ENST00000403721.1_Silent_p.K506K	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	506					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCCTTTTCTCTTTTGGCTTTA	0.313																																						uc002ryn.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						c.(1516-1518)aaA>aaG		Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							94.0	96.0	95.0					2																	55470598		2202	4300	6502	SO:0001819	synonymous_variant	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55470598T>C	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1518A>G	2.37:g.55470598T>C						MTIF2_uc010yox.2_Silent_p.K175K|MTIF2_uc002ryo.3_Silent_p.K506K	p.K506K	NM_001005369	NP_002444	P46199	IF2M_HUMAN			12	2255	-			506					D6W5D0	Silent	SNP	ENST00000263629.4	37	c.1518A>G	CCDS1853.1																																																																																				0.313	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		3	89	0	0	0	1	0	3	89				
SLC35B1	10237	broad.mit.edu	37	17	47780295	47780295	+	Missense_Mutation	SNP	T	T	C	rs80203972	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr17:47780295T>C	ENST00000240333.6	-	8	962	c.841A>G	c.(841-843)Att>Gtt	p.I281V	SLC35B1_ENST00000415270.2_Missense_Mutation_p.I318V			P78383	S35B1_HUMAN	solute carrier family 35, member B1	281					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GAGGCCAAAATTGTGAAGAAC	0.493													.|||	3	0.000599042	0.0023	0.0	5008	,	,		16249	0.0		0.0	False		,,,				2504	0.0					uc002iph.1																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(841-843)Att>Gtt		Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.		T	VAL/ILE	3,4403	6.2+/-15.9	0,3,2200	143.0	136.0	138.0		841	5.2	1.0	17	dbSNP_131	138	0,8600		0,0,4300	yes	missense	SLC35B1	NM_005827.1	29	0,3,6500	CC,CT,TT		0.0,0.0681,0.0231	benign	281/323	47780295	3,13003	2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47780295T>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.841A>G	17.37:g.47780295T>C	ENSP00000240333:p.Ile281Val					SLC35B1_uc002ipj.1_Missense_Mutation_p.I157V	p.I281V	NM_005827	NP_005818	P78383	S35B1_HUMAN			7	928	-			281					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.841A>G	CCDS11552.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	12.19	1.862744	0.32884	6.81E-4	0.0	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.35048	1.33;1.33;1.33	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	N	0.25286	0.73	0.80722	D	1	B;B	0.22146	0.065;0.065	B;B	0.34180	0.177;0.139	T	0.09751	-1.0660	10	0.23891	T	0.37	2.4688	14.8245	0.70101	0.0:0.0:0.0:1.0	.	214;281	D3DTX1;P78383	.;S35B1_HUMAN	V	281;318;157;157;214	ENSP00000240333:I281V;ENSP00000409548:I318V;ENSP00000423323:I214V	ENSP00000240333:I281V	I	-	1	0	SLC35B1	45135294	1.000000	0.71417	0.978000	0.43139	0.962000	0.63368	7.645000	0.83430	2.153000	0.67306	0.533000	0.62120	ATT		0.493	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		17	68	0	0	0	1	0	17	68				
LILRA2	11027	broad.mit.edu	37	19	55085362	55085362	+	Missense_Mutation	SNP	C	C	T	rs145704089	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:55085362C>T	ENST00000251377.3	+	2	150	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRA2_ENST00000391737.1_Missense_Mutation_p.T6M|LILRB1_ENST00000396321.2_Missense_Mutation_p.T6M|LILRA2_ENST00000391738.3_Missense_Mutation_p.T6M|LILRB1_ENST00000418536.2_Missense_Mutation_p.T6M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T6M|LILRA2_ENST00000251376.3_Missense_Mutation_p.T6M|LILRA2_ENST00000495786.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	6					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCATCCTCACGGTCCTGATC	0.602													c|||	2	0.000399361	0.0	0.0	5008	,	,		18820	0.001		0.001	False		,,,				2504	0.0					uc010ern.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(16-18)aCg>aTg		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.		C	MET/THR,MET/THR	3,4403	6.2+/-15.9	0,3,2200	139.0	116.0	124.0		17,17	0.1	0.0	19	dbSNP_134	124	6,8594	5.0+/-18.6	0,6,4294	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	81,81	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	,	6/484,6/467	55085362	9,12997	2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55085362C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.17C>T	19.37:g.55085362C>T	ENSP00000251377:p.Thr6Met					LILRA1_uc002qgg.4_Missense_Mutation_p.T6M|LILRA1_uc002qgf.3_Missense_Mutation_p.T6M|LILRA1_uc010yfe.1_Missense_Mutation_p.T6M|LILRA1_uc010yff.1_Missense_Mutation_p.T6M|LILRA1_uc010ero.3_Missense_Mutation_p.T6M|LILRA1_uc010yfg.1_Missense_Mutation_p.T6M	p.T6M			O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	1	486	+			6					O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.17C>T	CCDS46179.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.448	0.082908	0.08533	6.81E-4	6.98E-4	ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000104972;ENSG00000104972;ENSG00000104972	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737;ENST00000396321;ENST00000418536;ENST00000448689	T;T;T;T;T;T;T;T	0.00524	6.99;6.88;6.88;6.82;6.85;6.97;6.97;6.84	2.69	0.13	0.14746	.	1.627630	0.03783	N	0.261658	T	0.00524	0.0017	L	0.47016	1.485	0.09310	N	1	B;B;B;B;B	0.26195	0.144;0.057;0.072;0.036;0.029	B;B;B;B;B	0.31191	0.125;0.04;0.011;0.011;0.024	T	0.47302	-0.9128	10	0.28530	T	0.3	.	5.0209	0.14361	0.0:0.6733:0.0:0.3267	.	6;6;6;6;6	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	M	6	ENSP00000388131:T6M;ENSP00000251377:T6M;ENSP00000375618:T6M;ENSP00000251376:T6M;ENSP00000375617:T6M;ENSP00000379614:T6M;ENSP00000391514:T6M;ENSP00000409968:T6M	ENSP00000251376:T6M	T	+	2	0	LILRB1;LILRA2	59777174	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.303000	0.00519	0.003000	0.14656	0.508000	0.49915	ACG		0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			28	83	0	0	0	1	0	28	83				
LDLRAD3	143458	broad.mit.edu	37	11	36248871	36248871	+	Missense_Mutation	SNP	G	G	A	rs371720202		TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr11:36248871G>A	ENST00000315571.5	+	5	712	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.V221I|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.V182I	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	231					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCACTGCAACGTCACCTACAA	0.632																																						uc001mwk.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.(691-693)Gtc>Atc		Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.		G	ILE/VAL	0,4404		0,0,2202	74.0	66.0	69.0		691	5.1	1.0	11		69	1,8595	1.2+/-3.3	0,1,4297	no	missense	LDLRAD3	NM_174902.2	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	231/346	36248871	1,12999	2202	4298	6500	SO:0001583	missense	143458					integral to membrane	receptor activity	g.chr11:36248871G>A	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.691G>A	11.37:g.36248871G>A	ENSP00000318607:p.Val231Ile					LDLRAD3_uc010rey.1_Missense_Mutation_p.V182I|LDLRAD3_uc010rez.1_Missense_Mutation_p.V110I|LDLRAD3_uc010rfa.1_Intron	p.V231I	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN			4	728	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	231					B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	c.691G>A	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569277	0.65765	0.0	1.16E-4	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	D;D;D	0.94576	-3.46;-3.39;-3.21	5.07	5.07	0.68467	.	0.169547	0.40469	N	0.001100	D	0.92374	0.7580	L	0.32530	0.975	0.35106	D	0.76572	D;P;P	0.58268	0.982;0.83;0.83	P;B;B	0.47864	0.559;0.124;0.124	D	0.93002	0.6424	10	0.23302	T	0.38	.	18.4625	0.90745	0.0:0.0:1.0:0.0	.	221;182;231	E9PR86;B7Z1U3;Q86YD5	.;.;LRAD3_HUMAN	I	182;221;231	ENSP00000433954:V182I;ENSP00000434313:V221I;ENSP00000318607:V231I	ENSP00000318607:V231I	V	+	1	0	LDLRAD3	36205447	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.779000	0.75057	2.359000	0.80004	0.655000	0.94253	GTC		0.632	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		27	56	0	0	0	1	0	27	56				
DIDO1	11083	broad.mit.edu	37	20	61524262	61524262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr20:61524262G>A	ENST00000266070.4	-	13	3479	c.3154C>T	c.(3154-3156)Cga>Tga	p.R1052*	DIDO1_ENST00000395335.2_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395340.1_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R1052*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1052					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R1052*(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGCTGAGTCGAGACAAAAAG	0.423																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.2																			1	Substitution - Nonsense(1)	p.R1052*(2)	large_intestine(1)	NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3154-3156)Cga>Tga		Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.							117.0	105.0	109.0					20																	61524262		2203	4300	6503	SO:0001587	stop_gained	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61524262G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3154C>T	20.37:g.61524262G>A	ENSP00000266070:p.Arg1052*					DIDO1_uc002yds.2_Nonsense_Mutation_p.R1052*|DIDO1_uc002ydt.2_Nonsense_Mutation_p.R1052*|DIDO1_uc002ydu.2_Nonsense_Mutation_p.R1052*	p.R1052*	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN			12	3466	-	Breast(26;5.68e-08)		1052					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	c.3154C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	45	11.559260	0.99576	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	.	.	.	5.88	4.94	0.65067	.	0.000000	0.36519	U	0.002550	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5963	15.002	0.71479	0.0681:0.0:0.9319:0.0	.	.	.	.	X	1052	.	ENSP00000266070:R1052X	R	-	1	2	DIDO1	60994707	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.587000	0.53957	1.504000	0.48704	-0.229000	0.12294	CGA		0.423	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		15	41	0	0	0	1	0	15	41				
SUSD1	64420	broad.mit.edu	37	9	114886546	114886546	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr9:114886546T>C	ENST00000374270.3	-	6	1049	c.877A>G	c.(877-879)Aca>Gca	p.T293A	SUSD1_ENST00000482851.1_5'Flank|SUSD1_ENST00000374264.2_Missense_Mutation_p.T293A|SUSD1_ENST00000374263.3_Missense_Mutation_p.T293A	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	293	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTGTGCATGTTAAAGTACTT	0.507																																						uc010mui.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(877-879)Aca>Gca		Homo sapiens sushi domain containing 1 (SUSD1), mRNA.							141.0	147.0	145.0					9																	114886546		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114886546T>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.877A>G	9.37:g.114886546T>C	ENSP00000363388:p.Thr293Ala					MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.T293A|SUSD1_uc010muj.3_Missense_Mutation_p.T293A	p.T293A			Q6UWL2	SUSD1_HUMAN			5	918	-			293			Sushi 2.		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.877A>G	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.422|9.422	1.083315|1.083315	0.20309|0.20309	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.65916	.|-0.18;-0.18;-0.18	5.96|5.96	-2.34|-2.34	0.06704|0.06704	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.675007	.|0.13156	.|N	.|0.409439	T|T	0.37100|0.37100	0.0991|0.0991	L|L	0.37630|0.37630	1.12|1.12	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.11329	.|0.003;0.004;0.006	T|T	0.22173|0.22173	-1.0224|-1.0224	5|10	.|0.07482	.|T	.|0.82	-4.5896|-4.5896	0.7024|0.7024	0.00910|0.00910	0.1785:0.2541:0.1426:0.4248|0.1785:0.2541:0.1426:0.4248	.|.	.|293;293;293	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	S|A	276|293	.|ENSP00000363388:T293A;ENSP00000363381:T293A;ENSP00000363382:T293A	.|ENSP00000363381:T293A	N|T	-|-	2|1	0|0	SUSD1|SUSD1	113926367|113926367	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.990000|0.990000	0.78478|0.78478	-0.137000|-0.137000	0.10389|0.10389	-0.073000|-0.073000	0.12842|0.12842	-0.256000|-0.256000	0.11100|0.11100	AAC|ACA		0.507	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		4	147	0	0	0	1	0	4	147				
STK25	10494	broad.mit.edu	37	2	242439602	242439602	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr2:242439602T>C	ENST00000316586.4	-	5	762	c.413A>G	c.(412-414)cAc>cGc	p.H138R	STK25_ENST00000535007.1_Missense_Mutation_p.H44R|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000543554.1_Missense_Mutation_p.H44R|STK25_ENST00000405585.1_Missense_Mutation_p.H61R|STK25_ENST00000401869.1_Missense_Mutation_p.H138R|STK25_ENST00000405883.3_Missense_Mutation_p.H61R|STK25_ENST00000403346.3_Missense_Mutation_p.H138R	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GATGTCTCGGTGGATCTTGCG	0.582																																					NSCLC(99;1100 1566 7679 28647 48345)	uc002wbm.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(412-414)cAc>cGc		Homo sapiens serine/threonine kinase 25 (STK25), mRNA.							121.0	111.0	115.0					2																	242439602		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242439602T>C	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.413A>G	2.37:g.242439602T>C	ENSP00000325748:p.His138Arg					STK25_uc002wbl.3_5'Flank|STK25_uc002wbn.3_Missense_Mutation_p.H138R|STK25_uc002wbo.3_Missense_Mutation_p.H61R|STK25_uc010zos.2_Missense_Mutation_p.H44R|STK25_uc010zot.2_Missense_Mutation_p.H64R|STK25_uc002wbp.3_Missense_Mutation_p.H138R|STK25_uc010fzo.3_Missense_Mutation_p.H61R|STK25_uc010zou.2_Missense_Mutation_p.H44R|STK25_uc010zov.2_Missense_Mutation_p.H44R|STK25_uc010zow.2_Missense_Mutation_p.H138R	p.H138R	NM_006374	NP_006365	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	3	684	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	138			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.413A>G	CCDS2549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.735697|4.735697	0.89482|0.89482	.|.	.|.	ENSG00000115694|ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760;ENST00000429279;ENST00000436402;ENST00000440109;ENST00000435225|ENST00000423004	T;T;T;T;T;T;T;T;T;T;T;D;T;D;D|.	0.95307|.	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;0.48;0.48;0.48;0.48;-3.67;-1.32;-3.67;-3.67|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91683|0.91683	0.7371|0.7371	H|H	0.99834|0.99834	4.825|4.825	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.95409|0.95409	0.8496|0.8496	10|5	0.87932|.	D|.	0|.	.|.	15.1502|15.1502	0.72692|0.72692	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	138;64;61;138|.	B4DZ52;B4DVS7;A8K6Z3;O00506|.	.;.;.;STK25_HUMAN|.	R|A	138;138;138;61;44;61;44;44;44;42;44;44;44;138;44;44|20	ENSP00000325748:H138R;ENSP00000384162:H138R;ENSP00000385687:H138R;ENSP00000384444:H61R;ENSP00000385541:H61R;ENSP00000444886:H44R;ENSP00000446008:H44R;ENSP00000399212:H44R;ENSP00000417020:H42R;ENSP00000403607:H44R;ENSP00000395104:H44R;ENSP00000404960:H44R;ENSP00000412617:H138R;ENSP00000403866:H44R;ENSP00000401114:H44R|.	ENSP00000325748:H138R|.	H|T	-|-	2|1	0|0	STK25|STK25	242088275|242088275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.834000|7.834000	0.86773|0.86773	2.035000|2.035000	0.60131|0.60131	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.582	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		5	57	0	0	0	1	0	5	57				
BCAT1	586	broad.mit.edu	37	12	24985718	24985719	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr12:24985718_24985719insTC	ENST00000261192.7	-	9	1508_1509	c.982_983insGA	c.(982-984)atgfs	p.M328fs	BCAT1_ENST00000342945.5_Frame_Shift_Ins_p.M267fs|BCAT1_ENST00000538118.1_Frame_Shift_Ins_p.M327fs|BCAT1_ENST00000539780.1_Frame_Shift_Ins_p.M291fs|BCAT1_ENST00000544418.1_5'Flank|RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000539282.1_Frame_Shift_Ins_p.M340fs	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	328					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	AGAGCCAAACATCTCTCTCACT	0.431																																						uc010six.2																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1018-1020)atgfs		Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 4, mRNA.	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	586				G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:24985718_24985719insTC		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.981_982dupGA	12.37:g.24985725_24985726dupTC	ENSP00000261192:p.Met328fs					BCAT1_uc001rgc.3_Frame_Shift_Ins_p.M327fs|BCAT1_uc001rgd.4_Frame_Shift_Ins_p.M328fs|BCAT1_uc010siy.2_Frame_Shift_Ins_p.M291fs|BCAT1_uc001rge.4_Frame_Shift_Ins_p.M267fs	p.M340fs	NM_001178093	NP_001171564	P54687	BCAT1_HUMAN			8	1105_1106	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		328					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Frame_Shift_Ins	INS	ENST00000261192.7	37	c.1018_1019insGA	CCDS44845.1																																																																																				0.431	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		9	7						9	7	---	---	---	---
