#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
EPPK1	83481	broad.mit.edu	37	8	144941923	144941923	+	Silent	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:144941923C>T	ENST00000525985.1	-	2	5570	c.5499G>A	c.(5497-5499)acG>acA	p.T1833T				P58107	EPIPL_HUMAN	epiplakin 1	1833						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCAATTGTCGTGGTGATGA	0.537																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5497-5499)acG>acA		epiplakin 1							266.0	259.0	262.0					8																	144941923		2065	4209	6274	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941923C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5499G>A	8.37:g.144941923C>T							p.T1833T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5570	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1833					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.5499G>A																																																																																					0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		186	153	0	0	0	1	0	186	153				
IPO4	79711	broad.mit.edu	37	14	24651222	24651222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:24651222G>A	ENST00000354464.6	-	26	2922	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	916					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCATTGCTTCGCACCTCGGGG	0.647																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2746-2748)Cga>Tga		importin 4							40.0	46.0	44.0					14																	24651222		2073	4193	6266	SO:0001587	stop_gained	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24651222G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2746C>T	14.37:g.24651222G>A	ENSP00000346453:p.Arg916*					RP11-468E2.2_ENST00000561419.1_3'UTR	p.R916*	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	26	2922	-			916					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Nonsense_Mutation	SNP	ENST00000354464.6	37	c.2746C>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832201	0.91036	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	.	.	.	5.84	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3718	11.5134	0.50507	0.0834:0.0:0.9166:0.0	.	.	.	.	X	916;592	.	ENSP00000346453:R916X	R	-	1	2	IPO4	23721062	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.472000	0.60189	2.769000	0.95229	0.563000	0.77884	CGA		0.647	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		13	15	0	0	0	1	0	13	15				
CD177	57126	broad.mit.edu	37	19	43859895	43859895	+	RNA	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:43859895G>A	ENST00000607517.1	+	0	518				CD177_ENST00000378012.2_RNA|CD177_ENST00000378009.4_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GCCCCAAGGGGACCACACACT	0.572																																						ENST00000378009.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5								CD177 molecule							55.0	53.0	54.0					19																	43859895		1867	4105	5972			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43859895G>A	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43859895G>A						CD177_ENST00000607517.1_RNA		NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN			0	504	+		Prostate(69;0.00682)						Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	RNA	SNP	ENST00000607517.1	37																																																																																						0.572	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		5	31	0	0	0	1	0	5	31				
ASAP1	50807	broad.mit.edu	37	8	131249211	131249211	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:131249211C>G	ENST00000518721.1	-	4	443	c.216G>C	c.(214-216)caG>caC	p.Q72H	ASAP1_ENST00000357668.1_Missense_Mutation_p.Q72H	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	72					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTTCACTTTCTGAAGGGCTG	0.289																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(214-216)caG>caC		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							57.0	55.0	56.0					8																	131249211		2203	4295	6498	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131249211C>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.216G>C	8.37:g.131249211C>G	ENSP00000429900:p.Gln72His					ASAP1_ENST00000518721.1_Missense_Mutation_p.Q72H	p.Q72H			Q9ULH1	ASAP1_HUMAN			3	243	-			72					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.216G>C	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878101	0.51801	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367;ENST00000521426	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.3	3.51	0.40186	IRSp53/MIM homology domain (IMD) (1);	0.122440	0.56097	D	0.000025	T	0.10594	0.0259	L	0.39898	1.24	0.53688	D	0.99997	D;D	0.71674	0.998;0.998	D;D	0.71656	0.974;0.974	T	0.31081	-0.9956	10	0.16896	T	0.51	.	9.6977	0.40167	0.0:0.8301:0.0:0.1699	.	72;72	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	H	72;72;72;42;65	ENSP00000350297:Q72H;ENSP00000429900:Q72H;ENSP00000430588:Q42H;ENSP00000430917:Q65H	ENSP00000344591:Q72H	Q	-	3	2	ASAP1	131318393	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.732000	0.47352	0.623000	0.30267	-0.142000	0.14014	CAG		0.289	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		41	75	0	0	0	1	0	41	75				
DCAF8L1	139425	broad.mit.edu	37	X	27997700	27997700	+	Silent	SNP	T	T	C			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:27997700T>C	ENST00000441525.1	-	1	1866	c.1752A>G	c.(1750-1752)tcA>tcG	p.S584S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	584										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CGGATGTATCTGAGGTGCTGG	0.522																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1750-1752)tcA>tcG		DDB1 and CUL4 associated factor 8-like 1							120.0	93.0	102.0					X																	27997700		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27997700T>C		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1752A>G	X.37:g.27997700T>C							p.S584S	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1866	-			584					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1752A>G	CCDS35222.1																																																																																				0.522	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		39	10	0	0	0	1	0	39	10				
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.N239D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGAACTGTTACACATGTAG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(715-717)Aac>Gac	Other conserved DNA damage response genes	tumor protein p53							133.0	104.0	114.0					17																	7577566		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577566T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D	p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	847	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.715A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	18	0	0	0	1	0	18	18				
PPP1R1B	84152	broad.mit.edu	37	17	37792097	37792097	+	Silent	SNP	C	C	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:37792097C>A	ENST00000254079.4	+	7	1063	c.594C>A	c.(592-594)tcC>tcA	p.S198S	PPP1R1B_ENST00000580825.1_Silent_p.S198S|PPP1R1B_ENST00000394265.1_Silent_p.S162S|STARD3_ENST00000544210.2_5'Flank|PPP1R1B_ENST00000394267.2_Silent_p.S162S|STARD3_ENST00000580611.1_5'Flank|STARD3_ENST00000394250.4_5'Flank|PPP1R1B_ENST00000579000.1_Silent_p.S165S|STARD3_ENST00000336308.5_5'Flank	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	198					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCGCCCTTCCCCCTCTGAGC	0.627																																						ENST00000254079.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(2)	5						c.(592-594)tcC>tcA		protein phosphatase 1, regulatory (inhibitor) subunit 1B							43.0	41.0	42.0					17																	37792097		2203	4300	6503	SO:0001819	synonymous_variant	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37792097C>A	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.594C>A	17.37:g.37792097C>A						PPP1R1B_ENST00000579000.1_Silent_p.S165S|PPP1R1B_ENST00000394265.1_Silent_p.S162S|PPP1R1B_ENST00000394267.2_Silent_p.S162S|PPP1R1B_ENST00000580825.1_Silent_p.S198S	p.S198S	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	1063	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		198					Q547V9|Q547W0|Q9H7G1	Silent	SNP	ENST00000254079.4	37	c.594C>A	CCDS11339.1																																																																																				0.627	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		4	13	1	0	0.0293803	1	0.0306045	4	13				
CPT1A	1374	broad.mit.edu	37	11	68540743	68540743	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:68540743G>A	ENST00000265641.5	-	14	1884	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	CPT1A_ENST00000540367.1_Missense_Mutation_p.A577V|CPT1A_ENST00000539743.1_Missense_Mutation_p.A577V|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Missense_Mutation_p.A577V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	577					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTGTAGTGCGCCAGCTGGAG	0.552																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1729-1731)gCg>gTg		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						69.0	62.0	65.0					11																	68540743		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68540743G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1730C>T	11.37:g.68540743G>A	ENSP00000265641:p.Ala577Val					CPT1A_ENST00000540367.1_Missense_Mutation_p.A577V|CPT1A_ENST00000539743.1_Missense_Mutation_p.A577V|CPT1A_ENST00000376618.2_Missense_Mutation_p.A577V|CPT1A_ENST00000537756.2_5'UTR	p.A577V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		14	1884	-	Esophageal squamous(3;3.28e-14)		577					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1730C>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040182	0.75732	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	4.82	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	H	0.96633	3.855	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65874	0.939;0.937	D	0.99490	1.0950	10	0.87932	D	0	.	14.7635	0.69621	0.0:0.0:0.8543:0.1457	.	577;577	P50416;P50416-2	CPT1A_HUMAN;.	V	577	ENSP00000439084:A577V;ENSP00000365803:A577V;ENSP00000265641:A577V;ENSP00000446108:A577V	ENSP00000265641:A577V	A	-	2	0	CPT1A	68297319	1.000000	0.71417	0.816000	0.32577	0.699000	0.40488	9.398000	0.97281	1.145000	0.42336	0.297000	0.19635	GCG		0.552	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		11	22	0	0	0	1	0	11	22				
STRN3	29966	broad.mit.edu	37	14	31364637	31364637	+	Missense_Mutation	SNP	G	G	T	rs369078041		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:31364637G>T	ENST00000357479.5	-	18	2570	c.2374C>A	c.(2374-2376)Ctt>Att	p.L792I	STRN3_ENST00000355683.5_Missense_Mutation_p.L708I	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	792					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACTTTGGCAAGAGCATCAGCT	0.388																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2122-2124)Ctt>Att		striatin, calmodulin binding protein 3							81.0	69.0	73.0					14																	31364637		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31364637G>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2374C>A	14.37:g.31364637G>T	ENSP00000350071:p.Leu792Ile					STRN3_ENST00000357479.5_Missense_Mutation_p.L792I	p.L708I	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	16	2337	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		792					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.2122C>A	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000378	0.93227	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	D;D	0.81499	-1.5;-1.5	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.52266	1.64	0.80722	D	1	B;D	0.63880	0.207;0.993	B;D	0.70016	0.413;0.967	D	0.87667	0.2538	10	0.59425	D	0.04	-21.5326	19.43	0.94760	0.0:0.0:1.0:0.0	.	708;792	Q13033-2;Q13033	.;STRN3_HUMAN	I	708;792	ENSP00000347909:L708I;ENSP00000350071:L792I	ENSP00000347909:L708I	L	-	1	0	STRN3	30434388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.814000	0.99346	2.589000	0.87451	0.591000	0.81541	CTT		0.388	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		17	21	1	0	8.34094e-07	1	9.69876e-07	17	21				
RBM4	5936	broad.mit.edu	37	11	66407351	66407351	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:66407351C>A	ENST00000409406.1	+	1	946	c.169C>A	c.(169-171)Cat>Aat	p.H57N	RBM4_ENST00000532968.1_Missense_Mutation_p.H57N|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.H57N|RBM4_ENST00000530235.1_Missense_Mutation_p.H57N|RBM4_ENST00000506523.2_Missense_Mutation_p.H57N|RBM4_ENST00000398692.4_Missense_Mutation_p.H57N|RBM4_ENST00000503028.2_Missense_Mutation_p.H57N|RBM4_ENST00000483858.1_Missense_Mutation_p.H57N|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000396053.4_Missense_Mutation_p.H57N|RBM4_ENST00000578778.1_Missense_Mutation_p.H57N|RBM4_ENST00000310092.7_Missense_Mutation_p.H57N			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	57	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CAACCTGCACCATTACAAGCT	0.483																																						ENST00000409406.1																			0				endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(169-171)Cat>Aat		RNA binding motif protein 4							131.0	128.0	129.0					11																	66407351		2200	4292	6492	SO:0001583	missense	5936							g.chr11:66407351C>A	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.169C>A	11.37:g.66407351C>A	ENSP00000386894:p.His57Asn					RBM4_ENST00000506523.2_Missense_Mutation_p.H57N|RBM4_ENST00000532968.1_Missense_Mutation_p.H57N|RBM4_ENST00000503028.2_Missense_Mutation_p.H57N|RBM4_ENST00000530235.1_Missense_Mutation_p.H57N|RBM4_ENST00000398692.4_Missense_Mutation_p.H57N|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000483858.1_Missense_Mutation_p.H57N|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.H57N|RBM4_ENST00000396053.4_Missense_Mutation_p.H57N|RBM4_ENST00000408993.2_Missense_Mutation_p.H57N|RBM4_ENST00000578778.1_Missense_Mutation_p.H57N	p.H57N						Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	1	946	+								B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	c.169C>A	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151916	0.38021	.	.	ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000503028;ENST00000514361;ENST00000310092;ENST00000396053;ENST00000408993;ENST00000483858;ENST00000398692;ENST00000510173;ENST00000506523;ENST00000530235;ENST00000532968;ENST00000409406	T;T;T;T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	4.81	4.81	0.61882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.126389	0.52532	U	0.000062	T	0.71676	0.3368	.	.	.	0.49051	D	0.999746	P;B;P;P	0.48407	0.91;0.23;0.706;0.823	P;B;B;B	0.45971	0.499;0.173;0.425;0.433	T	0.75056	-0.3452	9	0.51188	T	0.08	-7.6165	15.8213	0.78648	0.0:1.0:0.0:0.0	.	57;57;57;57	E7EQS3;Q9BWF3-3;Q9BWF3;Q9BWF3-2	.;.;RBM4_HUMAN;.	N	57	ENSP00000425760:H57N;ENSP00000309166:H57N;ENSP00000413497:H57N;ENSP00000386561:H57N;ENSP00000435821:H57N;ENSP00000381680:H57N;ENSP00000422301:H57N;ENSP00000423572:H57N;ENSP00000432150:H57N;ENSP00000432020:H57N;ENSP00000386894:H57N	ENSP00000425760:H57N	H	+	1	0	RBM4;RBM14-RBM4	66163927	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.901000	0.69861	2.411000	0.81874	0.549000	0.68633	CAT		0.483	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		20	96	1	0	5.35047e-06	1	5.94497e-06	20	96				
OR2Z1	284383	broad.mit.edu	37	19	8841451	8841451	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:8841451T>A	ENST00000324060.2	+	1	136	c.61T>A	c.(61-63)Tca>Aca	p.S21T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTCAGTCACTCAGGATCACG	0.527																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(61-63)Tca>Aca		olfactory receptor, family 2, subfamily Z, member 1							93.0	83.0	87.0					19																	8841451		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841451T>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.61T>A	19.37:g.8841451T>A	ENSP00000316284:p.Ser21Thr						p.S21T	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	136	+			21					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.61T>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	T	7.998	0.754841	0.15846	.	.	ENSG00000181733	ENST00000324060	T	0.03004	4.08	4.57	0.45	0.16624	.	2.187130	0.02293	N	0.070494	T	0.03095	0.0091	N	0.20357	0.565	0.09310	N	1	B	0.19706	0.038	B	0.15484	0.013	T	0.41858	-0.9485	10	0.29301	T	0.29	.	4.4865	0.11792	0.5644:0.0991:0.0:0.3365	.	21	Q8NG97	OR2Z1_HUMAN	T	21	ENSP00000316284:S21T	ENSP00000316284:S21T	S	+	1	0	OR2Z1	8702451	0.000000	0.05858	0.017000	0.16124	0.004000	0.04260	0.632000	0.24583	0.199000	0.20427	-0.552000	0.04208	TCA		0.527	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			3	31	0	0	0	1	0	3	31				
ICAM1	3383	broad.mit.edu	37	19	10385561	10385561	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:10385561C>T	ENST00000264832.3	+	2	513	c.188C>T	c.(187-189)cCg>cTg	p.P63L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	63	Ig-like C2-type 1.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ATAGAGACCCCGTTGCCTAAA	0.542																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(187-189)cCg>cTg		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						106.0	101.0	103.0					19																	10385561		2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10385561C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.188C>T	19.37:g.10385561C>T	ENSP00000264832:p.Pro63Leu					CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	p.P63L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		2	513	+			63			Ig-like C2-type 1.		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.188C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	7.936	0.741636	0.15642	.	.	ENSG00000090339	ENST00000264832	T	0.14893	2.47	4.56	-9.12	0.00707	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	24.807400	0.00166	N	0.000000	T	0.07369	0.0186	N	0.16903	0.455	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.25117	-1.0141	10	0.10377	T	0.69	5.0099	4.1595	0.10277	0.5861:0.1141:0.0806:0.2193	.	63	P05362	ICAM1_HUMAN	L	63	ENSP00000264832:P63L	ENSP00000264832:P63L	P	+	2	0	ICAM1	10246561	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.198000	0.01239	-2.374000	0.00599	-0.169000	0.13324	CCG		0.542	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			26	40	0	0	0	1	0	26	40				
SCRIB	23513	broad.mit.edu	37	8	144893085	144893085	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:144893085G>A	ENST00000320476.3	-	11	1270	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	SCRIB_ENST00000377533.3_Missense_Mutation_p.P341S|SCRIB_ENST00000356994.2_Missense_Mutation_p.P422S|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	422	Sufficient for targeting to adherens junction and to inhibit cell proliferation.		P -> L (in dbSNP:rs6558394). {ECO:0000269|PubMed:15649318, ECO:0000269|PubMed:15806148, ECO:0000269|PubMed:8590280, ECO:0000269|Ref.3}.		activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGAGGCTGGGTGGGGGCTGC	0.657																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1264-1266)Ccc>Tcc		scribbled planar cell polarity protein							22.0	23.0	23.0					8																	144893085		2199	4297	6496	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893085G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1264C>T	8.37:g.144893085G>A	ENSP00000322938:p.Pro422Ser					SCRIB_ENST00000320476.3_Missense_Mutation_p.P422S|SCRIB_ENST00000377533.3_Missense_Mutation_p.P341S	p.P422S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1270	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		422		P -> L (in dbSNP:rs6558394).	Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1264C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209783	0.06140	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.76578	-1.03;-1.03;-1.03	4.21	2.19	0.27852	.	.	.	.	.	T	0.55386	0.1917	N	0.14661	0.345	0.31849	N	0.622493	P;B	0.36027	0.533;0.216	B;B	0.32928	0.083;0.155	T	0.54906	-0.8223	9	0.07175	T	0.84	.	10.9074	0.47088	0.0825:0.1317:0.7858:0.0	.	422;422	Q14160;Q14160-3	SCRIB_HUMAN;.	S	422;422;341	ENSP00000349486:P422S;ENSP00000322938:P422S;ENSP00000366756:P341S	ENSP00000322938:P422S	P	-	1	0	SCRIB	144965073	0.998000	0.40836	0.184000	0.23157	0.020000	0.10135	2.513000	0.45494	0.348000	0.23949	-1.598000	0.00824	CCC		0.657	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		4	36	0	0	0	1	0	4	36				
APC	324	broad.mit.edu	37	5	112174237	112174237	+	Silent	SNP	G	G	A	rs377384463		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr5:112174237G>A	ENST00000457016.1	+	16	3326	c.2946G>A	c.(2944-2946)tcG>tcA	p.S982S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.S982S|APC_ENST00000257430.4_Silent_p.S982S			P25054	APC_HUMAN	adenomatous polyposis coli	982	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGAAACCCTCGATTGAATCCT	0.358		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(2944-2946)tcG>tcA		adenomatous polyposis coli		G	,,	1,4403	2.1+/-5.4	0,1,2201	79.0	74.0	76.0		2946,2946,2892	-11.5	0.3	5		76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,	982/2844,982/2844,964/2826	112174237	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174237G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2946G>A	5.37:g.112174237G>A		TSP Lung(16;0.13)				APC_ENST00000508376.2_Silent_p.S982S|APC_ENST00000257430.4_Silent_p.S982S|CTC-554D6.1_ENST00000520401.1_Intron	p.S982S			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3326	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	982			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.2946G>A	CCDS4107.1																																																																																				0.358	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		9	57	0	0	0	1	0	9	57				
DDX58	23586	broad.mit.edu	37	9	32472993	32472993	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr9:32472993C>T	ENST00000379883.2	-	14	2151	c.1994G>A	c.(1993-1995)gGc>gAc	p.G665D	DDX58_ENST00000379882.1_Missense_Mutation_p.G620D|DDX58_ENST00000545044.1_Missense_Mutation_p.G462D|DDX58_ENST00000379868.1_Missense_Mutation_p.G462D|DDX58_ENST00000542096.1_Missense_Mutation_p.G594D	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	665	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATTTGTTTTGCCACGTCCAGT	0.318																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1858-1860)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							93.0	93.0	93.0					9																	32472993		2202	4298	6500	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32472993C>T	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1994G>A	9.37:g.32472993C>T	ENSP00000369213:p.Gly665Asp					DDX58_ENST00000545044.1_Missense_Mutation_p.G462D|DDX58_ENST00000379868.1_Missense_Mutation_p.G462D|DDX58_ENST00000542096.1_Missense_Mutation_p.G594D|DDX58_ENST00000379883.2_Missense_Mutation_p.G665D	p.G620D			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	13	2016	-			665			Helicase C-terminal.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.1859G>A	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788542	0.70337	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.12879	3.2;3.18;3.08;3.06;2.64	5.43	4.51	0.55191	Helicase, C-terminal (2);	0.325562	0.29861	N	0.011009	T	0.36496	0.0969	M	0.72894	2.215	0.41544	D	0.988536	D;D;D;D	0.76494	0.999;0.998;0.996;0.999	D;D;P;D	0.74023	0.982;0.961;0.905;0.947	T	0.23868	-1.0176	10	0.72032	D	0.01	-1.2397	14.9468	0.71039	0.0:0.856:0.144:0.0	.	462;620;594;665	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	D	620;665;462;594;462	ENSP00000369212:G620D;ENSP00000369213:G665D;ENSP00000369197:G462D;ENSP00000442160:G594D;ENSP00000443055:G462D	ENSP00000369197:G462D	G	-	2	0	DDX58	32462993	0.999000	0.42202	0.996000	0.52242	0.929000	0.56500	2.027000	0.41078	1.249000	0.43950	0.650000	0.86243	GGC		0.318	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		4	55	0	0	0	1	0	4	55				
C8orf74	203076	broad.mit.edu	37	8	10557913	10557913	+	Missense_Mutation	SNP	G	G	A	rs374082262		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:10557913G>A	ENST00000304519.5	+	4	846	c.817G>A	c.(817-819)Gca>Aca	p.A273T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	273										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CACCAGCCACGCAGGCCAGGA	0.582																																						ENST00000304519.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(817-819)Gca>Aca		chromosome 8 open reading frame 74		G	THR/ALA	1,3885		0,1,1942	35.0	42.0	40.0		817	-1.3	0.0	8		40	0,8284		0,0,4142	no	missense	C8orf74	NM_001040032.1	58	0,1,6084	AA,AG,GG		0.0,0.0257,0.0082	benign	273/295	10557913	1,12169	1943	4142	6085	SO:0001583	missense	203076							g.chr8:10557913G>A	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.817G>A	8.37:g.10557913G>A	ENSP00000307129:p.Ala273Thr					RP1L1_ENST00000329335.3_Intron	p.A273T	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	846	+			273					A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	c.817G>A	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	G	6.549	0.469567	0.12461	2.57E-4	0.0	ENSG00000171060	ENST00000304519	T	0.31247	1.5	4.71	-1.27	0.09347	.	0.515969	0.18246	N	0.147093	T	0.15609	0.0376	L	0.29908	0.895	0.09310	N	1	P	0.37914	0.611	B	0.28465	0.09	T	0.12630	-1.0540	10	0.66056	D	0.02	.	7.481	0.27404	0.0:0.2914:0.5259:0.1827	.	273	Q6P047	CH074_HUMAN	T	273	ENSP00000307129:A273T	ENSP00000307129:A273T	A	+	1	0	C8orf74	10595323	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.091000	0.03369	-0.037000	0.13646	-0.311000	0.09066	GCA		0.582	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		19	6	0	0	0	1	0	19	6				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	43	0	0	0	1	0	4	43				
AHSA1	10598	broad.mit.edu	37	14	77928586	77928586	+	Splice_Site	SNP	G	G	C			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:77928586G>C	ENST00000216479.3	+	3	514		c.e3+1		AHSA1_ENST00000535854.2_Splice_Site|AHSA1_ENST00000555457.1_Splice_Site	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)						positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGAAGTGGAGGTTTGTGCTTC	0.433																																						ENST00000216479.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8						c.e3+1		AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)							198.0	157.0	171.0					14																	77928586		2203	4300	6503	SO:0001630	splice_region_variant	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77928586G>C	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.354+1G>C	14.37:g.77928586G>C						AHSA1_ENST00000535854.2_Splice_Site|AHSA1_ENST00000555457.1_Splice_Site		NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	514	+								B2R9L2|B4DUR9|Q96IL6|Q9P060	Splice_Site	SNP	ENST00000216479.3	37		CCDS9863.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060477	0.76074	.	.	ENSG00000100591	ENST00000216479;ENST00000535854;ENST00000553374;ENST00000555729	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2195	0.93790	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AHSA1	76998339	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.281000	0.95811	2.550000	0.86006	0.557000	0.71058	.		0.433	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111	Intron	8	38	0	0	0	1	0	8	38				
PAPPA2	60676	broad.mit.edu	37	1	176640135	176640135	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:176640135A>G	ENST00000367662.3	+	4	3185	c.2021A>G	c.(2020-2022)gAg>gGg	p.E674G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E674G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	674	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGAAGGAGGCCCTGCAG	0.507																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2020-2022)gAg>gGg		pappalysin 2							175.0	175.0	175.0					1																	176640135		2019	4184	6203	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640135A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2021A>G	1.37:g.176640135A>G	ENSP00000356634:p.Glu674Gly					PAPPA2_ENST00000367661.3_Missense_Mutation_p.E674G	p.E674G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			4	3185	+			674			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2021A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908155	0.92107	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.34859	4.61;1.34	5.52	5.52	0.82312	.	0.050092	0.85682	D	0.000000	T	0.57621	0.2066	L	0.61036	1.89	0.51767	D	0.999938	D;D	0.89917	0.994;1.0	D;D	0.77004	0.95;0.989	T	0.59841	-0.7378	10	0.59425	D	0.04	-25.4406	15.3027	0.73966	1.0:0.0:0.0:0.0	.	674;674	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	G	674	ENSP00000356634:E674G;ENSP00000356633:E674G	ENSP00000356633:E674G	E	+	2	0	PAPPA2	174906758	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.170000	0.94795	2.092000	0.63282	0.533000	0.62120	GAG		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			33	190	0	0	0	1	0	33	190				
PLIN4	729359	broad.mit.edu	37	19	4511994	4511994	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:4511994C>T	ENST00000301286.3	-	3	1935	c.1936G>A	c.(1936-1938)Gcg>Acg	p.A646T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	646	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTACCTGTCGCGATATTTTGG	0.572																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(1936-1938)Gcg>Acg		perilipin 4							127.0	131.0	130.0					19																	4511994		2045	4180	6225	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511994C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1936G>A	19.37:g.4511994C>T	ENSP00000301286:p.Ala646Thr						p.A646T	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	1935	-			646			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1936G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190840	0.58017	.	.	ENSG00000167676	ENST00000301286	T	0.03553	3.89	4.47	-8.95	0.00765	.	3.282780	0.01714	U	0.027918	T	0.03348	0.0097	L	0.51422	1.61	0.09310	N	1	P	0.39131	0.661	B	0.33042	0.157	T	0.29027	-1.0025	10	0.11794	T	0.64	-0.9116	9.9947	0.41891	0.0757:0.6424:0.1204:0.1614	.	646	Q96Q06	PLIN4_HUMAN	T	646	ENSP00000301286:A646T	ENSP00000301286:A646T	A	-	1	0	PLIN4	4462994	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.446000	0.00468	-1.903000	0.01093	0.289000	0.19496	GCG		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		27	101	0	0	0	1	0	27	101				
AGXT2	64902	broad.mit.edu	37	5	35039555	35039555	+	Missense_Mutation	SNP	G	G	A	rs150835438		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr5:35039555G>A	ENST00000231420.6	-	3	436	c.236C>T	c.(235-237)aCg>aTg	p.T79M		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	79					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.T79M(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GAAATATGCCGTCACCACAGG	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19240	0.0		0.0	False		,,,				2504	0.0					ENST00000231420.6																			1	Substitution - Missense(1)	p.T79M(1)	prostate(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(235-237)aCg>aTg		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	83.0	86.0	85.0		236	4.6	0.0	5	dbSNP_134	85	0,8600		0,0,4300	yes	missense	AGXT2	NM_031900.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	79/515	35039555	2,13004	2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35039555G>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.236C>T	5.37:g.35039555G>A	ENSP00000231420:p.Thr79Met						p.T79M	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	3	436	-	all_lung(31;4.52e-05)		79					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.236C>T	CCDS3908.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.84	1.462948	0.26248	4.54E-4	0.0	ENSG00000113492	ENST00000231420	T	0.19806	2.12	5.45	4.58	0.56647	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.583340	0.19101	N	0.122712	T	0.18551	0.0445	M	0.66939	2.045	0.09310	N	1	B;B	0.32573	0.376;0.109	B;B	0.23275	0.045;0.014	T	0.19712	-1.0297	10	0.33940	T	0.23	-14.8511	6.3606	0.21427	0.0753:0.1385:0.6589:0.1274	.	79;79	E9PDL7;Q9BYV1	.;AGT2_HUMAN	M	79	ENSP00000231420:T79M	ENSP00000231420:T79M	T	-	2	0	AGXT2	35075312	0.000000	0.05858	0.016000	0.15963	0.133000	0.20885	0.403000	0.20982	1.301000	0.44836	0.655000	0.94253	ACG		0.473	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		25	82	0	0	0	1	0	25	82				
EEFSEC	60678	broad.mit.edu	37	3	127981001	127981001	+	Silent	SNP	G	G	A	rs7625074	byFrequency	TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr3:127981001G>A	ENST00000254730.6	+	3	609	c.555G>A	c.(553-555)gcG>gcA	p.A185A	EEFSEC_ENST00000483457.1_Silent_p.A185A	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	185	G5. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TACCCGTGGCGGCCAAGCCGG	0.532													G|||	7	0.00139776	0.0053	0.0	5008	,	,		18267	0.0		0.0	False		,,,				2504	0.0					ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(553-555)gcG>gcA		eukaryotic elongation factor, selenocysteine-tRNA-specific		G		15,4391	23.3+/-48.9	0,15,2188	92.0	106.0	101.0		555	-10.6	0.8	3	dbSNP_116	101	0,8600		0,0,4300	yes	coding-synonymous	EEFSEC	NM_021937.3		0,15,6488	AA,AG,GG		0.0,0.3404,0.1153		185/597	127981001	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127981001G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.555G>A	3.37:g.127981001G>A						EEFSEC_ENST00000483457.1_Silent_p.A185A	p.A185A	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			3	609	+			185					Q96HZ6	Silent	SNP	ENST00000254730.6	37	c.555G>A	CCDS33849.1																																																																																				0.532	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		37	56	0	0	0	1	0	37	56				
LPP	4026	broad.mit.edu	37	3	188477959	188477959	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr3:188477959G>A	ENST00000312675.4	+	8	1545	c.1299G>A	c.(1297-1299)atG>atA	p.M433I	LPP_ENST00000543006.1_Missense_Mutation_p.M433I|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	433	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCACTGCCATGGATCAGGTCT	0.493			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1297-1299)atG>atA		LIM domain containing preferred translocation partner in lipoma							159.0	136.0	144.0					3																	188477959		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188477959G>A	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1299G>A	3.37:g.188477959G>A	ENSP00000318089:p.Met433Ile					LPP_ENST00000543006.1_Missense_Mutation_p.M433I|LPP_ENST00000471917.1_3'UTR	p.M433I	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	8	1545	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	433			LIM zinc-binding 1.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1299G>A	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	36	5.746142	0.96882	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.44881	0.91;0.91	6.17	6.17	0.99709	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	M	0.73962	2.25	0.80722	D	1	P;B	0.34462	0.454;0.215	B;B	0.34931	0.192;0.192	T	0.50833	-0.8781	10	0.59425	D	0.04	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	286;433	B7Z8W0;Q93052	.;LPP_HUMAN	I	433	ENSP00000318089:M433I;ENSP00000438891:M433I	ENSP00000318089:M433I	M	+	3	0	LPP	189960653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	ATG		0.493	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		7	45	0	0	0	1	0	7	45				
SYMPK	8189	broad.mit.edu	37	19	46330845	46330845	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:46330845G>A	ENST00000245934.7	-	16	2348	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	702					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TTGAAGATCAGGTCTCGAAGT	0.587																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(2104-2106)Ctg>Ttg		symplekin							123.0	91.0	102.0					19																	46330845		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46330845G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2104C>T	19.37:g.46330845G>A							p.L702L	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	16	2348	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	702					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.2104C>T	CCDS12676.2																																																																																				0.587	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		7	31	0	0	0	1	0	7	31				
CSMD3	114788	broad.mit.edu	37	8	113267576	113267576	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:113267576A>G	ENST00000297405.5	-	62	10187	c.9943T>C	c.(9943-9945)Ttc>Ctc	p.F3315L	CSMD3_ENST00000343508.3_Missense_Mutation_p.F3275L|CSMD3_ENST00000455883.2_Missense_Mutation_p.F3146L|CSMD3_ENST00000352409.3_Missense_Mutation_p.F3245L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3315	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGCAGCTGAATGAAACCTCT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9943-9945)Ttc>Ctc		CUB and Sushi multiple domains 3							136.0	122.0	127.0					8																	113267576		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113267576A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9943T>C	8.37:g.113267576A>G	ENSP00000297405:p.Phe3315Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.F3275L|CSMD3_ENST00000455883.2_Missense_Mutation_p.F3146L|CSMD3_ENST00000352409.3_Missense_Mutation_p.F3245L	p.F3315L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			62	10187	-			3315			Sushi 26.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9943T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866072	0.91511	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.19	5.19	0.71726	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.91920	3.255	0.58432	D	0.999993	D;D;B	0.65815	0.993;0.995;0.014	D;D;B	0.80764	0.99;0.994;0.018	D	0.87197	0.2238	10	0.48119	T	0.1	.	15.2318	0.73395	1.0:0.0:0.0:0.0	.	3146;3315;3275	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3275;3315;2585;3146;3245	ENSP00000345799:F3275L;ENSP00000297405:F3315L;ENSP00000341558:F2585L;ENSP00000412263:F3146L;ENSP00000343124:F3245L	ENSP00000297405:F3315L	F	-	1	0	CSMD3	113336752	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.053000	0.93860	2.187000	0.69744	0.528000	0.53228	TTC		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	118	0	0	0	1	0	19	118				
UBQLNL	143630	broad.mit.edu	37	11	5536499	5536499	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:5536499C>A	ENST00000380184.1	-	1	1436	c.1173G>T	c.(1171-1173)caG>caT	p.Q391H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	391										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTTCTTGAAGCTGCTGGGTAA	0.507																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1171-1173)caG>caT		ubiquilin-like							170.0	155.0	160.0					11																	5536499		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5536499C>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.1173G>T	11.37:g.5536499C>A	ENSP00000369531:p.Gln391His					HBG2_ENST00000380259.2_Intron	p.Q391H	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1436	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	391					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.1173G>T	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	C	7.320	0.616757	0.14129	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.50548	0.74	5.3	2.23	0.28157	.	1.087620	0.07224	N	0.861404	T	0.40398	0.1115	L	0.51422	1.61	0.09310	N	1	B	0.21452	0.056	B	0.17722	0.019	T	0.40156	-0.9578	10	0.66056	D	0.02	.	3.9193	0.09236	0.1671:0.5821:0.1618:0.089	.	391	Q8IYU4	UBQLN_HUMAN	H	391;176	ENSP00000369531:Q391H	ENSP00000369531:Q391H	Q	-	3	2	UBQLNL	5493075	0.000000	0.05858	0.010000	0.14722	0.052000	0.14988	0.170000	0.16663	0.713000	0.32060	0.655000	0.94253	CAG		0.507	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		16	69	1	0	3.52763e-06	1	4.00867e-06	16	69				
FCGBP	8857	broad.mit.edu	37	19	40368661	40368661	+	Silent	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:40368661G>A	ENST00000221347.6	-	28	12694	c.12687C>T	c.(12685-12687)gtC>gtT	p.V4229V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4229	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CATTAGGGAAGACCTGGTCAT	0.632																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12685-12687)gtC>gtT		Fc fragment of IgG binding protein							44.0	48.0	47.0					19																	40368661		2203	4295	6498	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40368661G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12687C>T	19.37:g.40368661G>A							p.V4229V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12694	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4229			VWFD 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.12687C>T	CCDS12546.1																																																																																				0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		13	423	0	0	0	1	0	13	423				
PKHD1L1	93035	broad.mit.edu	37	8	110456010	110456010	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:110456010T>A	ENST00000378402.5	+	37	4774	c.4670T>A	c.(4669-4671)cTa>cAa	p.L1557Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1557					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAAAGATTGCTATTTGAGGTT	0.408										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4669-4671)cTa>cAa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							91.0	87.0	88.0					8																	110456010		1829	4075	5904	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110456010T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4670T>A	8.37:g.110456010T>A	ENSP00000367655:p.Leu1557Gln	HNSCC(38;0.096)					p.L1557Q	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		37	4774	+			1557					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4670T>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	8.733	0.917028	0.17907	.	.	ENSG00000205038	ENST00000378402	D	0.85629	-2.01	5.87	4.72	0.59763	Immunoglobulin-like fold (1);	0.595728	0.16784	N	0.199641	T	0.72803	0.3506	N	0.16478	0.41	0.22701	N	0.998831	B	0.13145	0.007	B	0.12156	0.007	T	0.58940	-0.7547	10	0.30078	T	0.28	.	9.7084	0.40229	0.0:0.0808:0.0:0.9192	.	1557	Q86WI1	PKHL1_HUMAN	Q	1557	ENSP00000367655:L1557Q	ENSP00000367655:L1557Q	L	+	2	0	PKHD1L1	110525186	0.217000	0.23597	0.875000	0.34327	0.534000	0.34807	0.740000	0.26188	2.371000	0.80710	0.533000	0.62120	CTA		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		31	75	0	0	0	1	0	31	75				
WNK3	65267	broad.mit.edu	37	X	54276007	54276007	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:54276007T>C	ENST00000375159.2	-	16	2773	c.2774A>G	c.(2773-2775)aAt>aGt	p.N925S	WNK3_ENST00000375169.3_Missense_Mutation_p.N925S|WNK3_ENST00000354646.2_Missense_Mutation_p.N925S			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	925					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTGGCATGGATTATTTTCTAT	0.408																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2773-2775)aAt>aGt		WNK lysine deficient protein kinase 3							103.0	100.0	101.0					X																	54276007		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54276007T>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2774A>G	X.37:g.54276007T>C	ENSP00000364301:p.Asn925Ser					WNK3_ENST00000375169.3_Missense_Mutation_p.N925S|WNK3_ENST00000375159.2_Missense_Mutation_p.N925S	p.N925S	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			17	3212	-			925					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.2774A>G	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	5.514	0.279878	0.10458	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70164	-0.42;-0.46;-0.46	4.72	2.16	0.27623	.	0.574322	0.16726	N	0.202052	T	0.39384	0.1076	N	0.24115	0.695	0.09310	N	1	B;B	0.32467	0.372;0.068	B;B	0.30855	0.121;0.009	T	0.22347	-1.0219	10	0.06757	T	0.87	-4.2947	1.4534	0.02380	0.1761:0.1059:0.1785:0.5396	.	925;925	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	S	925	ENSP00000364312:N925S;ENSP00000346667:N925S;ENSP00000364301:N925S	ENSP00000346667:N925S	N	-	2	0	WNK3	54292732	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.837000	0.27558	0.542000	0.28846	0.441000	0.28932	AAT		0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		87	18	0	0	0	1	0	87	18				
C19orf54	284325	broad.mit.edu	37	19	41250044	41250044	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:41250044G>A	ENST00000378313.2	-	4	694	c.575C>T	c.(574-576)tCt>tTt	p.S192F	C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000598729.1_Intron|C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000470681.1_Intron|C19orf54_ENST00000594163.1_5'Flank	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	192										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CAGGCCACCAGAGAGCAGCTT	0.667																																						ENST00000378313.2																			0				breast(1)|lung(1)|urinary_tract(2)	4						c.(574-576)tCt>tTt		chromosome 19 open reading frame 54							35.0	29.0	31.0					19																	41250044		2203	4299	6502	SO:0001583	missense	284325							g.chr19:41250044G>A	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.575C>T	19.37:g.41250044G>A	ENSP00000367564:p.Ser192Phe					C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000598729.1_Intron|C19orf54_ENST00000470681.1_Intron|C19orf54_ENST00000598485.2_Intron	p.S192F	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	694	-			192					A8MSZ5|B4DNU7	Missense_Mutation	SNP	ENST00000378313.2	37	c.575C>T	CCDS12564.2	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377937	0.42105	.	.	ENSG00000188493	ENST00000378313	.	.	.	5.35	-4.8	0.03190	.	0.788828	0.10741	U	0.639469	T	0.17238	0.0414	N	0.24115	0.695	0.09310	N	1	P	0.48503	0.911	P	0.44811	0.461	T	0.16364	-1.0405	9	0.56958	D	0.05	0.1346	3.4786	0.07594	0.1882:0.1853:0.4718:0.1547	.	192	Q5BKX5	CS054_HUMAN	F	192	.	ENSP00000367564:S192F	S	-	2	0	C19orf54	45941884	0.000000	0.05858	0.009000	0.14445	0.480000	0.33159	0.089000	0.15002	-0.266000	0.09339	-0.311000	0.09066	TCT		0.667	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		24	20	0	0	0	1	0	24	20				
OSCAR	126014	broad.mit.edu	37	19	54600377	54600377	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:54600377C>T	ENST00000284648.6	-	4	342	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	OSCAR_ENST00000351806.4_Missense_Mutation_p.V38M|OSCAR_ENST00000391761.1_Missense_Mutation_p.V38M|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000358375.4_Missense_Mutation_p.V49M|OSCAR_ENST00000356532.3_Missense_Mutation_p.V53M|OSCAR_ENST00000359649.4_Missense_Mutation_p.V53M			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	49	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CTCAAGGTCACGTTGACCCCA	0.602																																						ENST00000284648.6																			0				large_intestine(1)|skin(1)	2						c.(145-147)Gtg>Atg		osteoclast associated, immunoglobulin-like receptor							68.0	72.0	70.0					19																	54600377		2203	4300	6503	SO:0001583	missense	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54600377C>T	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.145G>A	19.37:g.54600377C>T	ENSP00000365808:p.Val49Met					OSCAR_ENST00000351806.4_Missense_Mutation_p.V38M|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000391761.1_Missense_Mutation_p.V38M|OSCAR_ENST00000358375.4_Missense_Mutation_p.V49M|OSCAR_ENST00000359649.4_Missense_Mutation_p.V53M|OSCAR_ENST00000356532.3_Missense_Mutation_p.V53M	p.V49M			Q8IYS5	OSCAR_HUMAN			4	342	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		49			Ig-like 1.		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	37	c.145G>A		.	.	.	.	.	.	.	.	.	.	C	15.09	2.728869	0.48833	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.01215	5.16;5.16;5.16;5.16;5.16;5.16	4.05	2.98	0.34508	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.209251	0.22932	U	0.053885	T	0.06188	0.0160	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;1.0;1.0	D;P;D;D;P;D	0.75484	0.923;0.876;0.986;0.912;0.865;0.95	T	0.01448	-1.1352	10	0.87932	D	0	.	8.3272	0.32165	0.0:0.8781:0.0:0.1219	.	49;38;38;53;49;53	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	M	38;53;53;49;38;49	ENSP00000375641:V38M;ENSP00000348927:V53M;ENSP00000352671:V53M;ENSP00000351145:V49M;ENSP00000304523:V38M;ENSP00000365808:V49M	ENSP00000365808:V49M	V	-	1	0	OSCAR	59292189	0.328000	0.24687	0.995000	0.50966	0.530000	0.34684	0.314000	0.19432	2.001000	0.58596	0.585000	0.79938	GTG		0.602	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		32	48	0	0	0	1	0	32	48				
ROS1	6098	broad.mit.edu	37	6	117662760	117662760	+	Missense_Mutation	SNP	G	G	A	rs199762082		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr6:117662760G>A	ENST00000368508.3	-	29	4903	c.4705C>T	c.(4705-4707)Cgg>Tgg	p.R1569W	ROS1_ENST00000368507.3_Missense_Mutation_p.R1563W|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1569	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGTCTGACCGCACAGTTGTA	0.428			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(4705-4707)Cgg>Tgg		c-ros oncogene 1 , receptor tyrosine kinase							122.0	109.0	114.0					6																	117662760		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117662760G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4705C>T	6.37:g.117662760G>A	ENSP00000357494:p.Arg1569Trp					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R1563W	p.R1569W	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	29	4903	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1569			Fibronectin type-III 7.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4705C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244092	0.22796	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.54479	0.57;0.57	5.27	1.27	0.21489	.	1.274340	0.05560	N	0.569024	T	0.13798	0.0334	N	0.14661	0.345	0.09310	N	1	P	0.46277	0.875	B	0.37508	0.252	T	0.09122	-1.0689	10	0.46703	T	0.11	.	4.6079	0.12387	0.2594:0.0:0.5897:0.1509	.	1569	P08922	ROS1_HUMAN	W	1569;1563	ENSP00000357494:R1569W;ENSP00000357493:R1563W	ENSP00000357493:R1563W	R	-	1	2	ROS1	117769453	0.001000	0.12720	0.016000	0.15963	0.323000	0.28346	0.321000	0.19558	0.189000	0.20188	0.655000	0.94253	CGG		0.428	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	68	0	0	0	1	0	4	68				
HPS3	84343	broad.mit.edu	37	3	148877997	148877997	+	Silent	SNP	C	C	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr3:148877997C>T	ENST00000296051.2	+	11	2177	c.2037C>T	c.(2035-2037)acC>acT	p.T679T	HPS3_ENST00000460120.1_Silent_p.T514T	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	679					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGACATTGACCAAGGCAGCAG	0.433									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2035-2037)acC>acT		Hermansky-Pudlak syndrome 3							99.0	100.0	100.0					3																	148877997		2203	4300	6503	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148877997C>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2037C>T	3.37:g.148877997C>T						HPS3_ENST00000460120.1_Silent_p.T514T	p.T679T	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		11	2177	+			679					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.2037C>T	CCDS3140.1																																																																																				0.433	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		10	43	0	0	0	1	0	10	43				
ABCA13	154664	broad.mit.edu	37	7	48318152	48318152	+	Missense_Mutation	SNP	C	C	T	rs199809056		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:48318152C>T	ENST00000435803.1	+	18	7385	c.7361C>T	c.(7360-7362)aCg>aTg	p.T2454M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2454					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTAATCTAACGGATTTGCTT	0.343																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7360-7362)aCg>aTg		ATP-binding cassette, sub-family A (ABC1), member 13		C	MET/THR	1,3641		0,1,1820	92.0	91.0	91.0		7361	0.5	0.0	7		91	4,8138		0,4,4067	yes	missense	ABCA13	NM_152701.3	81	0,5,5887	TT,TC,CC		0.0491,0.0275,0.0424	probably-damaging	2454/5059	48318152	5,11779	1821	4071	5892	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318152C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7361C>T	7.37:g.48318152C>T	ENSP00000411096:p.Thr2454Met						p.T2454M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7385	+			2454					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7361C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369689	0.61624	2.75E-4	4.91E-4	ENSG00000179869	ENST00000435803	T	0.58358	0.34	4.92	0.517	0.17025	.	0.433637	0.19336	N	0.116762	T	0.49270	0.1547	L	0.29908	0.895	0.09310	N	0.99999	D	0.89917	1.0	P	0.61800	0.894	T	0.37009	-0.9724	10	0.45353	T	0.12	.	4.6121	0.12408	0.0:0.4649:0.2551:0.28	.	2454	Q86UQ4	ABCAD_HUMAN	M	2454	ENSP00000411096:T2454M	ENSP00000411096:T2454M	T	+	2	0	ABCA13	48288698	0.001000	0.12720	0.000000	0.03702	0.605000	0.37080	0.209000	0.17435	-0.227000	0.09884	-0.126000	0.14955	ACG		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		9	56	0	0	0	1	0	9	56				
NDNF	79625	broad.mit.edu	37	4	121958036	121958036	+	Missense_Mutation	SNP	G	G	A	rs151063601		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr4:121958036G>A	ENST00000379692.4	-	4	1616	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	364					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GGAGCAAACCGTAGAAACTTT	0.423																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(1090-1092)Cgg>Tgg		neuron-derived neurotrophic factor		G	TRP/ARG	0,4406		0,0,2203	146.0	130.0	135.0		1090	2.9	0.6	4	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	NDNF	NM_024574.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	364/569	121958036	1,13005	2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958036G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1090C>T	4.37:g.121958036G>A	ENSP00000369014:p.Arg364Trp						p.R364W	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1616	-			364					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1090C>T	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051153	0.55218	0.0	1.16E-4	ENSG00000173376	ENST00000379692	.	.	.	5.69	2.91	0.33838	.	0.052145	0.85682	D	0.000000	T	0.75982	0.3924	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.76934	-0.2775	9	0.72032	D	0.01	-17.9528	14.2744	0.66170	0.0:0.0:0.4813:0.5187	.	364	Q8TB73	NDNF_HUMAN	W	364	.	ENSP00000369014:R364W	R	-	1	2	NDNF	122177486	1.000000	0.71417	0.641000	0.29422	0.997000	0.91878	3.799000	0.55529	0.277000	0.22141	0.655000	0.94253	CGG		0.423	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		16	61	0	0	0	1	0	16	61				
KIFAP3	22920	broad.mit.edu	37	1	169952443	169952443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:169952443G>A	ENST00000361580.2	-	13	1701	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.Q414*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.Q448*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.Q194*|KIFAP3_ENST00000367765.1_Nonsense_Mutation_p.Q452*	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	492					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCATCATGCTGAGAAATGTTT	0.368																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1354-1356)Cag>Tag		kinesin-associated protein 3							66.0	63.0	64.0					1																	169952443		2203	4300	6503	SO:0001587	stop_gained	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169952443G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1474C>T	1.37:g.169952443G>A	ENSP00000354560:p.Gln492*					KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.Q414*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.Q448*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.Q194*|KIFAP3_ENST00000361580.2_Nonsense_Mutation_p.Q492*	p.Q452*	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			13	2855	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		492					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Nonsense_Mutation	SNP	ENST00000361580.2	37	c.1354C>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	40	8.171232	0.98688	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.2772	18.5225	0.90959	0.0:0.0:1.0:0.0	.	.	.	.	X	492;452;448;194;414	.	.	Q	-	1	0	KIFAP3	168219067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.252000	0.95491	2.522000	0.85027	0.557000	0.71058	CAG		0.368	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		19	54	0	0	0	1	0	19	54				
NAT2	10	broad.mit.edu	37	8	18257669	18257669	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:18257669A>T	ENST00000286479.3	+	2	263	c.156A>T	c.(154-156)ttA>ttT	p.L52F	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	52					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	AGTTGGGCTTAGAGGCTATTT	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(154-156)ttA>ttT		N-acetyltransferase 2 (arylamine N-acetyltransferase)							109.0	114.0	112.0					8																	18257669		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18257669A>T	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.156A>T	8.37:g.18257669A>T	ENSP00000286479:p.Leu52Phe					NAT2_ENST00000520116.1_Intron	p.L52F	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	263	+			52					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.156A>T	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	A	4.238	0.043019	0.08196	.	.	ENSG00000156006	ENST00000286479	T	0.02395	4.31	2.95	0.967	0.19674	.	0.000000	0.64402	D	0.000007	T	0.05960	0.0155	M	0.88450	2.955	0.37017	D	0.896026	B	0.30526	0.283	B	0.32533	0.147	T	0.04885	-1.0920	10	0.59425	D	0.04	.	4.9409	0.13965	0.7923:0.0:0.2077:0.0	.	52	A4Z6T7	.	F	52	ENSP00000286479:L52F	ENSP00000286479:L52F	L	+	3	2	NAT2	18301949	0.970000	0.33590	0.013000	0.15412	0.087000	0.18053	0.398000	0.20899	0.202000	0.20498	0.358000	0.22013	TTA		0.473	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		30	131	0	0	0	1	0	30	131				
TTC7B	145567	broad.mit.edu	37	14	91252588	91252588	+	Missense_Mutation	SNP	C	C	T	rs538272204		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:91252588C>T	ENST00000328459.6	-	2	327	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TTC7B_ENST00000357056.2_Missense_Mutation_p.R69Q	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	69										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTTGGGGCCTCGGGGACTGGC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17430	0.0		0.0	False		,,,				2504	0.001					ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(205-207)cGa>cAa		tetratricopeptide repeat domain 7B							40.0	45.0	43.0					14																	91252588		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91252588C>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.206G>A	14.37:g.91252588C>T	ENSP00000336127:p.Arg69Gln					TTC7B_ENST00000328459.6_Missense_Mutation_p.R69Q	p.R69Q			Q86TV6	TTC7B_HUMAN			2	327	-		Melanoma(154;0.222)	69					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.206G>A	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602859	0.46423	.	.	ENSG00000165914	ENST00000357056;ENST00000328459	T;T	0.36699	1.93;1.24	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000004	T	0.26521	0.0648	L	0.40543	1.245	0.47094	D	0.999315	B	0.31040	0.305	B	0.22753	0.041	T	0.05716	-1.0868	10	0.13470	T	0.59	-2.7211	13.4993	0.61445	0.0:0.9251:0.0:0.0749	.	69	Q86TV6	TTC7B_HUMAN	Q	69	ENSP00000349564:R69Q;ENSP00000336127:R69Q	ENSP00000336127:R69Q	R	-	2	0	TTC7B	90322341	0.998000	0.40836	0.993000	0.49108	0.956000	0.61745	2.862000	0.48388	2.511000	0.84671	0.655000	0.94253	CGA		0.622	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			8	27	0	0	0	1	0	8	27				
IRAK3	11213	broad.mit.edu	37	12	66597578	66597578	+	Missense_Mutation	SNP	G	G	T	rs561056770		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:66597578G>T	ENST00000261233.4	+	2	642	c.221G>T	c.(220-222)tGg>tTg	p.W74L	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAATTACTTTGGTCCTGGGCA	0.423																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(220-222)tGg>tTg		interleukin-1 receptor-associated kinase 3							108.0	102.0	104.0					12																	66597578		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66597578G>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.221G>T	12.37:g.66597578G>T	ENSP00000261233:p.Trp74Leu					IRAK3_ENST00000457197.2_Intron	p.W74L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	2	642	+			74			Death.			Missense_Mutation	SNP	ENST00000261233.4	37	c.221G>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446097	0.84101	.	.	ENSG00000090376	ENST00000261233	D	0.84800	-1.9	5.93	5.93	0.95920	Death (3);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89284	0.3614	9	.	.	.	-10.6	15.8335	0.78778	0.0:0.0:1.0:0.0	.	74	Q9Y616	IRAK3_HUMAN	L	74	ENSP00000261233:W74L	.	W	+	2	0	IRAK3	64883845	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.613000	0.67688	2.818000	0.97014	0.591000	0.81541	TGG		0.423	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			17	54	1	0	2.48551e-13	1	2.95893e-13	17	54				
PYHIN1	149628	broad.mit.edu	37	1	158943506	158943506	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:158943506C>A	ENST00000368140.1	+	8	1674	c.1429C>A	c.(1429-1431)Cct>Act	p.P477T	PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P468T|PYHIN1_ENST00000392254.2_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	477					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACTGTGGCCCCTCCTCTTTC	0.438																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1429-1431)Cct>Act		pyrin and HIN domain family, member 1							163.0	145.0	151.0					1																	158943506		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158943506C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1429C>A	1.37:g.158943506C>A	ENSP00000357122:p.Pro477Thr					PYHIN1_ENST00000368138.3_Missense_Mutation_p.P468T|PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000392254.2_Intron	p.P477T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			8	1674	+	all_hematologic(112;0.0378)		477					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1429C>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	3.005	-0.205222	0.06180	.	.	ENSG00000163564	ENST00000368140;ENST00000368138	T;T	0.06294	3.34;3.32	1.73	-1.94	0.07571	.	.	.	.	.	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.16289	0.015;0.007	T	0.47649	-0.9101	9	0.87932	D	0	.	0.5922	0.00730	0.2456:0.3343:0.2427:0.1773	.	468;477	Q6K0P9-2;Q6K0P9	.;IFIX_HUMAN	T	477;468	ENSP00000357122:P477T;ENSP00000357120:P468T	ENSP00000357120:P468T	P	+	1	0	PYHIN1	157210130	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.412000	0.01039	-0.552000	0.06167	-0.265000	0.10407	CCT		0.438	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		27	86	1	0	3.65163e-15	1	4.45321e-15	27	86				
PANX2	56666	broad.mit.edu	37	22	50609366	50609366	+	Silent	SNP	C	C	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr22:50609366C>A	ENST00000395842.2	+	1	207	c.207C>A	c.(205-207)gtC>gtA	p.V69V	PANX2_ENST00000159647.5_Silent_p.V69V	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	69					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCACCCTGGTCTTCACCAAGA	0.726																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(205-207)gtC>gtA		pannexin 2							9.0	8.0	8.0					22																	50609366		2164	4249	6413	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50609366C>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.207C>A	22.37:g.50609366C>A						PANX2_ENST00000159647.5_Silent_p.V69V	p.V69V	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	1	207	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	69					B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.207C>A	CCDS14085.2																																																																																				0.726	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		2	0	1	0	0.0784	1	0.08	2	0				
PHC1	1911	broad.mit.edu	37	12	9086525	9086525	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:9086525C>G	ENST00000543824.1	+	10	2290	c.1958C>G	c.(1957-1959)tCc>tGc	p.S653C	PHC1_ENST00000433083.2_Missense_Mutation_p.S608C|PHC1_ENST00000536844.1_Missense_Mutation_p.S259C|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Missense_Mutation_p.S653C			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	653					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GATGATGTCTCCACATTGGGT	0.468																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1822-1824)tCc>tGc		polyhomeotic homolog 1 (Drosophila)							100.0	92.0	95.0					12																	9086525		2203	4297	6500	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9086525C>G	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1958C>G	12.37:g.9086525C>G	ENSP00000440674:p.Ser653Cys					PHC1_ENST00000536844.1_Missense_Mutation_p.S259C|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Missense_Mutation_p.S653C|PHC1_ENST00000544916.1_Missense_Mutation_p.S653C	p.S608C			P78364	PHC1_HUMAN			8	1968	+			653					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.1823C>G	CCDS8597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.13|11.13	1.548583|1.548583	0.27652|0.27652	.|.	.|.	ENSG00000111752|ENSG00000111752	ENST00000537610|ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	.|T;T;T;T;D	.|0.89343	.|1.88;1.88;1.88;1.88;-2.5	5.7|5.7	4.76|4.76	0.60689|0.60689	.|.	.|0.313431	.|0.31589	.|N	.|0.007381	T|T	0.81541|0.81541	0.4844|0.4844	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D	.|0.54047	.|0.964	.|B	.|0.43783	.|0.431	T|T	0.77259|0.77259	-0.2654|-0.2654	5|10	.|0.62326	.|D	.|0.03	-7.9945|-7.9945	14.1854|14.1854	0.65603|0.65603	0.0:0.8506:0.1493:0.0|0.0:0.8506:0.1493:0.0	.|.	.|653	.|P78364	.|PHC1_HUMAN	A|C	164|653;653;608;653;259	.|ENSP00000440674:S653C;ENSP00000251757:S653C;ENSP00000399194:S608C;ENSP00000437659:S653C;ENSP00000440488:S259C	.|ENSP00000251757:S653C	P|S	+|+	1|2	0|0	PHC1|PHC1	8977792|8977792	0.021000|0.021000	0.18746|0.18746	0.063000|0.063000	0.19743|0.19743	0.785000|0.785000	0.44390|0.44390	2.999000|2.999000	0.49473|0.49473	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.468	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		18	26	0	0	0	1	0	18	26				
RERE	473	broad.mit.edu	37	1	8482823	8482825	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:8482823_8482825delGAA	ENST00000337907.3	-	13	1880_1882	c.1246_1248delTTC	c.(1246-1248)ttcdel	p.F416del	RERE_ENST00000476556.1_5'UTR|RP5-1115A15.1_ENST00000444276.1_RNA|RP5-1115A15.1_ENST00000449895.1_RNA|RERE_ENST00000400908.2_In_Frame_Del_p.F416del|RERE_ENST00000377464.1_In_Frame_Del_p.F148del|RERE_ENST00000400907.2_In_Frame_Del_p.F416del|RERE_ENST00000460659.1_5'UTR	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	416	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTCTAATTCTGAAGAAGTTCTTC	0.399																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1246-1248)del		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001651	inframe_deletion	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8482823_8482825delGAA	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1246_1248delTTC	1.37:g.8482826_8482828delGAA	ENSP00000338629:p.Phe416del					RERE_ENST00000377464.1_In_Frame_Del_p.F148del|RERE_ENST00000400908.2_In_Frame_Del_p.F416del|RERE_ENST00000400907.2_In_Frame_Del_p.F416del|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000460659.1_5'UTR	p.F416del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	13	1880_1882	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	416			SANT.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	In_Frame_Del	DEL	ENST00000337907.3	37	c.1246_1248delTTC	CCDS95.1																																																																																				0.399	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	70						17	70	---	---	---	---
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342		TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1186-1188)del		serine/arginine-rich splicing factor 4				32,4234		1,30,2102						4.8	1.0			113	49,8205		3,43,4081	no	coding	SRSF4	NM_005626.4		4,73,6183	A1A1,A1R,RR		0.5937,0.7501,0.647				81,12439				SO:0001651	inframe_deletion	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475219_29475221delCTT	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1186_1188delAAG	1.37:g.29475228_29475230delCTT	ENSP00000362900:p.Lys396del					SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	p.K396del	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1420_1422	-			396			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	In_Frame_Del	DEL	ENST00000373795.4	37	c.1186_1188delAAG	CCDS333.1																																																																																				0.601	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		7	110						7	110	---	---	---	---
DYNC1I2	1781	broad.mit.edu	37	2	172549338	172549339	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr2:172549338_172549339insA	ENST00000397119.3	+	3	327_328	c.160_161insA	c.(160-162)gaafs	p.E54fs	DYNC1I2_ENST00000410079.3_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409197.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000508530.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000534253.2_Frame_Shift_Ins_p.E54fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.E54fs	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	54					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)	p.R57fs*13(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCAGATCTTGAAAAAAAAAGG	0.351																																						ENST00000534253.2																			1	Deletion - Frameshift(1)	p.R57fs*13(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(160-162)aaafs		dynein, cytoplasmic 1, intermediate chain 2																																				SO:0001589	frameshift_variant	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172549338_172549339insA	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.169dupA	2.37:g.172549347_172549347dupA	ENSP00000380308:p.Glu54fs					DYNC1I2_ENST00000409197.1_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000508530.1_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000397119.3_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000410079.3_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.K54fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.K54fs	p.K54fs			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		3	328_329	+			54					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Frame_Shift_Ins	INS	ENST00000397119.3	37	c.160_161insA	CCDS46450.1																																																																																				0.351	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		3	5						3	5	---	---	---	---
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																						ENST00000372836.4																			1	Deletion - In frame(1)	p.L25delL(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(49-54)ttg>t		canopy FGF signaling regulator 3																																				SO:0001651	inframe_deletion	10695				innate immune response	endoplasmic reticulum		g.chr6:42897358_42897360delTGC	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del					CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del	p.LL23del	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		1	421_423	+	Colorectal(47;0.196)		23					O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	ENST00000372836.4	37	c.50_52delTGC	CCDS4875.1																																																																																				0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		2	4						2	4	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48353865	48353865	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:48353865delG	ENST00000435803.1	+	26	9742	c.9718delG	c.(9718-9720)ggtfs	p.G3240fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3240					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGCTTTTGGTTCTTTCCA	0.353																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(9718-9720)gtfs		ATP-binding cassette, sub-family A (ABC1), member 13							92.0	90.0	91.0					7																	48353865		1833	4098	5931	SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48353865delG	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9718delG	7.37:g.48353865delG	ENSP00000411096:p.Gly3240fs						p.G3240fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			26	9742	+			3240					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	ENST00000435803.1	37	c.9718delG	CCDS47584.1																																																																																				0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		22	19						22	19	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29490363	29490363	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:29490363delT	ENST00000358273.4	+	4	831	c.448delT	c.(448-450)ttcfs	p.F150fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.F150fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.F150fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	150					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCAACAACTTCAATGCAGT	0.398			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(448-450)tcfs		neurofibromin 1							59.0	58.0	59.0					17																	29490363		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29490363delT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.448delT	17.37:g.29490363delT	ENSP00000351015:p.Phe150fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Frame_Shift_Del_p.F150fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.F150fs	p.F150fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	4	831	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	150					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.448delT	CCDS42292.1																																																																																				0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		24	65						24	65	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48703707	48703709	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:48703707_48703709delGAA	ENST00000359106.5	+	38	6729_6731	c.6729_6731delGAA	c.(6727-6732)ctgaag>ctg	p.K2245del	CACNA1G_ENST00000442258.2_In_Frame_Del_p.K2111del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.K2127del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.K2182del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.K2107del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.K2129del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.K2152del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.K2118del|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000510366.1_In_Frame_Del_p.K2100del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.K2039del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.K2166del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.K2174del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.K2095del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.K2189del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.K2062del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.K2073del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.K2211del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.K2141del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.K2134del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.K2159del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.K2145del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.K2200del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.K2155del|CACNA1G_ENST00000352832.5_In_Frame_Del_p.K2118del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.K2234del	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2245					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACGGGACCTGAAGAAGTGCTAC	0.64											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6346-6351)ctg>ct		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)																																			SO:0001651	inframe_deletion	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703707_48703709delGAA	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6729_6731delGAA	17.37:g.48703710_48703712delGAA	ENSP00000352011:p.Lys2245del		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000505165.1_In_Frame_Del_p.LK2071del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.LK2132del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.LK2127del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.LK2125del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.LK2209del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.LK2116del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.LK2157del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.LK2139del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.LK2098del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.LK2172del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.LK2153del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.LK2180del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.LK2187del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.LK2037del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.LK2150del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.LK2164del|CACNA1G_ENST00000359106.5_In_Frame_Del_p.LK2243del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.LK2093del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.LK2198del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.LK2105del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.LK2143del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.LK2109del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.LK2232del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.LK2060del	p.LK2116del	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6720_6722	+	Breast(11;6.7e-17)		2243					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	In_Frame_Del	DEL	ENST00000359106.5	37	c.6348_6350delGAA	CCDS45730.1																																																																																				0.640	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	21						12	21	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29497560	29497560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9O5-06A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ff2571a-0e33-4ec6-aba7-e9a5843005b6	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr18:29497560delA	ENST00000283351.4	-	3	758	c.423delT	c.(421-423)tttfs	p.F141fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F87fs|TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.F141fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	141					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTGGTTCAGAAATTCATGAT	0.318																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(421-423)ttfs		trafficking protein particle complex 8							149.0	161.0	157.0					18																	29497560		2203	4300	6503	SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29497560delA	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.423delT	18.37:g.29497560delA	ENSP00000283351:p.Phe141fs					TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.F141fs|TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F87fs	p.F141fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			3	758	-			141					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	ENST00000283351.4	37	c.423delT	CCDS11901.1																																																																																				0.318	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		23	86						23	86	---	---	---	---
