#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
KDM3B	51780	broad.mit.edu	37	5	137750822	137750822	+	Splice_Site	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:137750822G>A	ENST00000314358.5	+	12	3401	c.3201G>A	c.(3199-3201)gaG>gaA	p.E1067E	KDM3B_ENST00000542866.1_Splice_Site_p.E99E|KDM3B_ENST00000394866.1_Splice_Site_p.E723E	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1067					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTATTTCAGAGACAGAAGAGA	0.413																																						ENST00000314358.5											0			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3199-3201)gaG>gaA	lysine (K)-specific demethylase 3B						75.0	76.0	76.0					5																	137750822		2203	4300	6503	SO:0001630	splice_region_variant	51780			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137750822G>A	AF251039	AF251039	CCDS34242.1	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	"""Chromatin-modifying enzymes / K-demethylases"""	1337	1337	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609373	609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	15138608	Standard	Standard	NM_016604	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	uc003lcy.1	Q7LBC6	Q7LBC6	OTTHUMG00000163469	OTTHUMG00000163469	ENST00000314358.5:c.3200-1G>A	5.37:g.137750822G>A			KDM3B_ENST00000394866.1_Splice_Site_p.E723E|KDM3B_ENST00000542866.1_Splice_Site_p.E99E	p.E1067E	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN			12	3401	+			1067		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Splice_Site	SNP	ENST00000314358.5	37	c.3201G>A	CCDS34242.1																																																																																									0.413	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		17.772859	-14	-14	22	22	NM_016604	Silent	8	21.745908	21.745908	35	0.186047	0	0	0	1	0	8	35	0.186047
PLCB4	5332	broad.mit.edu	37	20	9389754	9389754	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:9389754A>T	ENST00000378493.1	+	20	1904	c.1889A>T	c.(1888-1890)gAt>gTt	p.D630V	PLCB4_ENST00000378473.3_Missense_Mutation_p.D642V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630V|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630V|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642V|PLCB4_ENST00000378501.2_Missense_Mutation_p.D630V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCCGAGTCGATTCCAGTAAT	0.448																																						ENST00000378501.2											0			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1888-1890)gAt>gTt	phospholipase C, beta 4						68.0	57.0	61.0					20																	9389754		2203	4300	6503	SO:0001583	missense	5332			intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389754A>T			CCDS13104.1, CCDS13105.1, CCDS54447.1	CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			2008-03-18			ENSG00000101333	ENSG00000101333	ENSG00000101333	ENSG00000101333	3.1.4.11			9059	9059	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600810	600810						8530101	8530101	Standard	Standard	NM_000933	NM_000933		Approved		uc021wam.1	uc021wam.1	Q15147	Q15147	OTTHUMG00000031853	OTTHUMG00000031853	ENST00000378493.1:c.1889A>T	20.37:g.9389754A>T	ENSP00000367754:p.Asp630Val		PLCB4_ENST00000334005.3_Missense_Mutation_p.D630V|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642V|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630V|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D630V	p.D630V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			20	1904	+			630	PI-PLC Y-box.	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1889A>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.821210	0.90873	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	6.04	6.04	0.98038	6.04	6.04	0.98038	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	H	0.98507	4.25	0.80722	D	1	D;P;D;D	0.76494	0.976;0.765;0.999;0.984	D;P;D;D	0.85130	0.962;0.633;0.997;0.936	D	0.91326	0.5086	10	0.87932	D	0	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	642;477;630;630	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	630;642;630;630;630;478	ENSP00000334105:D630V;ENSP00000367734:D642V;ENSP00000278655:D630V;ENSP00000367754:D630V;ENSP00000367762:D630V;ENSP00000390616:D478V	ENSP00000278655:D630V	D	+	2	0	0	PLCB4	9337754	9337754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	GAT		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		88.258858	-34	-34	69	69			29	88.854359	88.854359	43	0.402778	0	0	0	1	0	29	43	0.402778
RPL26L1	51121	broad.mit.edu	37	5	172395506	172395506	+	Silent	SNP	C	C	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:172395506C>G	ENST00000521476.1	+	3	337	c.213C>G	c.(211-213)gtC>gtG	p.V71V	RPL26L1_ENST00000265100.2_Silent_p.V71V|RPL26L1_ENST00000519974.1_Silent_p.V71V|RPL26L1_ENST00000519239.1_Silent_p.V71V			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAAGGTAGTCCAGGTGTACA	0.463																																						ENST00000521476.1											0			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(211-213)gtC>gtG	ribosomal protein L26-like 1						201.0	186.0	191.0					5																	172395506		2203	4300	6503	SO:0001819	synonymous_variant	51121			endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172395506C>G	AF083248	AF083248	CCDS4382.1	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	"""L ribosomal proteins"""	17050	17050	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""ribosomal protein L26 pseudogene 1"""	RPL26P1	"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	11042152	Standard	Standard	NM_016093	NM_016093		Approved		uc003mcc.3	uc003mcc.3	Q9UNX3	Q9UNX3	OTTHUMG00000130517	OTTHUMG00000130517	ENST00000521476.1:c.213C>G	5.37:g.172395506C>G			RPL26L1_ENST00000519974.1_Silent_p.V71V|RPL26L1_ENST00000519239.1_Silent_p.V71V|RPL26L1_ENST00000265100.2_Silent_p.V71V	p.V71V			Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	337	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	71		B3KY82|D3DQM0	Silent	SNP	ENST00000521476.1	37	c.213C>G	CCDS4382.1																																																																																									0.463	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1		-28.829090	-22	-22	154	154	NM_016093		4	8.017246	8.017246	145	0.026846	0	0	0	1	0	4	145	0.026846
TNPO3	23534	ucsc.edu	37	7	128694715	128694715	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr7:128694715A>G	ENST00000265388.5	-	1	253	c.110T>C	c.(109-111)cTg>cCg	p.L37P	TNPO3_ENST00000482320.1_5'UTR|TNPO3_ENST00000471234.1_Missense_Mutation_p.L37P|TNPO3_ENST00000393245.1_Missense_Mutation_p.L37P|TNPO3_ENST00000471166.1_Missense_Mutation_p.L37P			Q9Y5L0	TNPO3_HUMAN	transportin 3	37					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CGAACGCTGCAGCTCCCCAAG	0.657																																					Pancreas(147;583 2585 39696 52331)												0																	53.0	48.0	50.0					7																	128694715		2203	4300	6503	SO:0001583	missense	23534							AF145029	AF145029	CCDS5809.1, CCDS55162.1	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			2014-02-03			ENSG00000064419	ENSG00000064419	ENSG00000064419	ENSG00000064419		"""Importins"""	"""Importins"""	17103	17103	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""importin 12"""	"""importin 12"""	610032	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	10366588, 10713112, 23543484, 23667635	Standard	Standard	NM_012470	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	uc003vol.2	Q9Y5L0	Q9Y5L0	OTTHUMG00000158409	OTTHUMG00000158409	ENST00000265388.5:c.110T>C	7.37:g.128694715A>G	ENSP00000265388:p.Leu37Pro																	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37		CCDS5809.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.044682	0.93685	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000471234;ENST00000471166	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.51	5.51	0.81932	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.83367	0.5239	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.979;0.98;0.962	D	0.85496	0.1188	10	0.72032	D	0.01	-7.5303	13.8689	0.63605	1.0:0.0:0.0:0.0	.	37;37;37	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	P	37	ENSP00000376936:L37P;ENSP00000265388:L37P;ENSP00000418646:L37P;ENSP00000418267:L37P	ENSP00000265388:L37P	L	-	2	0	0	TNPO3	128481951	128481951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.218000	0.71995	0.533000	0.62120	CTG		0.657	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1			5	5	43	43	NM_012470		4			19							4	19	
LHFPL4	375323	broad.mit.edu	37	3	9547848	9547848	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr3:9547848C>A	ENST00000287585.6	-	3	731	c.446G>T	c.(445-447)gGc>gTc	p.G149V		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	162						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCATCCCAGCCATCAGGAAA	0.602																																						ENST00000287585.6											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10						c.(445-447)gGc>gTc	lipoma HMGIC fusion partner-like 4						107.0	94.0	98.0					3																	9547848		2203	4300	6503	SO:0001583	missense	375323				integral to membrane		g.chr3:9547848C>A	AY278320	AY278320	CCDS33691.1	CCDS33691.1	3p25.3	2006-06-13			2006-06-13			ENSG00000156959	ENSG00000156959	ENSG00000156959	ENSG00000156959				29568	29568	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610240	610240						15905332	15905332	Standard	Standard	NM_198560	NM_198560		Approved		uc003bry.3	uc003bry.3	Q7Z7J7	Q7Z7J7	OTTHUMG00000155066	OTTHUMG00000155066	ENST00000287585.6:c.446G>T	3.37:g.9547848C>A	ENSP00000287585:p.Gly149Val			p.G149V	NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN			3	731	-	Medulloblastoma(99;0.227)		149		A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	37	c.446G>T	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843562	0.91197	.	.	ENSG00000156959	ENST00000287585	T	0.79845	-1.31	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000003	D	0.91998	0.7465	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.93619	0.6946	10	0.87932	D	0	-18.7726	18.496	0.90865	0.0:1.0:0.0:0.0	.	149	Q7Z7J7	LHPL4_HUMAN	V	149	ENSP00000287585:G149V	ENSP00000287585:G149V	G	-	2	0	0	LHFPL4	9522848	9522848	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.783000	0.85696	2.488000	0.83962	0.591000	0.81541	GGC		0.602	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1		-0.004634	-18	-18	45	45	NM_198560		3	6.612262	6.612262	34	0.081081	1	0	1	1	1	3	34	0.081081
PRKCB	5579	broad.mit.edu	37	16	24196869	24196869	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr16:24196869C>T	ENST00000321728.7	+	15	1878	c.1703C>T	c.(1702-1704)gCt>gTt	p.A568V	PRKCB_ENST00000303531.7_Missense_Mutation_p.A568V	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	568	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCCAAGGAAGCTGTGGCCATC	0.507																																						ENST00000303531.7											0			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1702-1704)gCt>gTt	protein kinase C, beta						145.0	120.0	128.0					16																	24196869		2197	4300	6497	SO:0001583	missense	5579			apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24196869C>T	M13975	M13975	CCDS10618.1, CCDS10619.1	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	ENSG00000166501	ENSG00000166501	2.7.11.1			9395	9395	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176970	176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	3658678	Standard	Standard	NM_002738	NM_002738		Approved		uc002dme.3	uc002dme.3	P05771	P05771	OTTHUMG00000131615	OTTHUMG00000131615	ENST00000321728.7:c.1703C>T	16.37:g.24196869C>T	ENSP00000318315:p.Ala568Val		PRKCB_ENST00000321728.7_Missense_Mutation_p.A568V	p.A568V	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			15	1855	+			568	Protein kinase.	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1703C>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587887	0.96590	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.67698	-0.28;-0.28	5.72	5.72	0.89469	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	L	0.53780	1.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.975;0.985	T	0.80016	-0.1559	10	0.87932	D	0	.	19.2318	0.93843	0.0:1.0:0.0:0.0	.	568;568	P05771-2;P05771	.;KPCB_HUMAN	V	568	ENSP00000318315:A568V;ENSP00000305355:A568V	ENSP00000305355:A568V	A	+	2	0	0	PRKCB	24104370	24104370	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.476000	0.81055	2.865000	0.98341	0.655000	0.94253	GCT		0.507	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2		77.903831	-14	-14	61	61	NM_212535		26	78.090137	78.090137	33	0.440678	0	0	0	1	0	26	33	0.440678
GRID2	2895	broad.mit.edu	37	4	94693493	94693493	+	Silent	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr4:94693493C>T	ENST00000282020.4	+	16	3126	c.2868C>T	c.(2866-2868)aaC>aaT	p.N956N	GRID2_ENST00000510992.1_Silent_p.N861N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	956	Interaction with AP4M1. {ECO:0000250}.				cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTTTTGGCAACGTGCCTGAGC	0.468																																						ENST00000282020.4											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2866-2868)aaC>aaT	glutamate receptor, ionotropic, delta 2						83.0	79.0	80.0					4																	94693493		2203	4300	6503	SO:0001819	synonymous_variant	2895			glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693493C>T	AF009014	AF009014	CCDS3637.1, CCDS68758.1	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			2012-08-29			ENSG00000152208	ENSG00000152208	ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	4576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602368	602368						9465309	9465309	Standard	Standard	NM_001510	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	uc011cdt.2	O43424	O43424	OTTHUMG00000130975	OTTHUMG00000130975	ENST00000282020.4:c.2868C>T	4.37:g.94693493C>T			GRID2_ENST00000510992.1_Silent_p.N861N	p.N956N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	3126	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	956	Interaction with AP4M1 (By similarity).	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.2868C>T	CCDS3637.1																																																																																									0.468	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		49.356040	-8	-8	49	49			17	51.003283	51.003283	37	0.314815	0	0	0	1	0	17	37	0.314815
ADAMTS4	9507	broad.mit.edu	37	1	161164004	161164004	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:161164004A>C	ENST00000367996.5	-	5	1697	c.1269T>G	c.(1267-1269)tgT>tgG	p.C423W	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	423	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TGTCTAAGAGACAGTGCCCTG	0.592																																						ENST00000367996.5											0			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1267-1269)tgT>tgG	ADAM metallopeptidase with thrombospondin type 1 motif, 4						43.0	49.0	47.0					1																	161164004		2190	4296	6486	SO:0001583	missense	9507			proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161164004A>C	AB014588	AB014588	CCDS1223.1	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859	ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	220	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603876	603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""		"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	10094461	Standard	Standard	NM_005099	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	uc001fyt.4	O75173	O75173	OTTHUMG00000034349	OTTHUMG00000034349	ENST00000367996.5:c.1269T>G	1.37:g.161164004A>C	ENSP00000356975:p.Cys423Trp		ADAMTS4_ENST00000478394.1_5'UTR	p.C423W	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	1697	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)			Peptidase M12B.	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1269T>G	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.057104	0.55325	.	.	ENSG00000158859	ENST00000367996	D	0.98313	-4.86	5.05	0.184	0.15086	5.05	0.184	0.15086	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000002	D	0.98969	0.9649	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99139	1.0855	10	0.87932	D	0	.	9.5193	0.39124	0.4611:0.0:0.5389:0.0	.	423	O75173	ATS4_HUMAN	W	423	ENSP00000356975:C423W	ENSP00000356975:C423W	C	-	3	2	2	ADAMTS4	159430628	159430628	0.995000	0.38212	0.998000	0.56505	0.909000	0.53808	0.317000	0.19487	0.113000	0.18004	0.459000	0.35465	TGT		0.592	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2		32.081865	-20	-20	52	52	NM_005099		12	33.813059	33.813059	30	0.285714	0	0	0	1	0	12	30	0.285714
PRDM8	56978	broad.mit.edu	37	4	81123464	81123464	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr4:81123464T>A	ENST00000504452.1	+	8	1687	c.848T>A	c.(847-849)cTc>cAc	p.L283H	PRDM8_ENST00000415738.2_Missense_Mutation_p.L283H|PRDM8_ENST00000339711.4_Missense_Mutation_p.L283H			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	283	Gly-rich.|Ser-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCCAGAGCCTCAgcagcggt	0.701											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4											0			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(847-849)cTc>cAc	PR domain containing 8						9.0	12.0	11.0					4																	81123464		1528	3569	5097	SO:0001583	missense	56978			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123464T>A	AF275815	AF275815	CCDS43243.1	CCDS43243.1	4q21	2008-08-21			2008-08-21				ENSG00000152784		ENSG00000152784				13993	13993	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_020226	NM_020226		Approved		uc003hmc.4	uc003hmc.4	Q9NQV8	Q9NQV8			ENST00000504452.1:c.848T>A	4.37:g.81123464T>A	ENSP00000423985:p.Leu283His	1203	PRDM8_ENST00000504452.1_Missense_Mutation_p.L283H|PRDM8_ENST00000415738.2_Missense_Mutation_p.L283H	p.L283H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	2079	+			283	Gly-rich.|Ser-rich.	A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.848T>A	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459334	0.63401	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.69175	-0.38;0.18;-0.38;-0.38	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.259050	0.20266	U	0.095775	T	0.56352	0.1979	N	0.19112	0.55	0.09310	N	1	D	0.59767	0.986	P	0.47626	0.552	T	0.52419	-0.8578	10	0.51188	T	0.08	.	11.7849	0.52037	0.0:0.0:0.0:1.0	.	283	Q9NQV8	PRDM8_HUMAN	H	283	ENSP00000423985:L283H;ENSP00000425149:L283H;ENSP00000339764:L283H;ENSP00000406998:L283H	ENSP00000339764:L283H	L	+	2	0	0	PRDM8	81342488	81342488	0.132000	0.22450	0.040000	0.18447	0.655000	0.38815	0.000000	0.12993	1.879000	0.54435	0.260000	0.18958	CTC		0.701	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1		20.923992	-6	-6	14	14			7	20.938448	20.938448	8	0.466667	0	0	0	1	0	7	8	0.466667
RPS25	6230	broad.mit.edu	37	11	118888181	118888181	+	Silent	SNP	G	G	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr11:118888181G>C	ENST00000527673.1	-	3	579	c.174C>G	c.(172-174)ctC>ctG	p.L58L	TRAPPC4_ENST00000359005.4_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533632.1_5'Flank|TRAPPC4_ENST00000525303.1_5'Flank|RPS25_ENST00000528547.1_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CTTCCTTACAGAGTTTATCAT	0.463																																						ENST00000527673.1											0			endometrium(1)	1						c.(172-174)ctC>ctG	ribosomal protein S25						50.0	53.0	52.0					11																	118888181		2200	4295	6495	SO:0001819	synonymous_variant	6230			endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888181G>C	M64716	M64716	CCDS8406.1	CCDS8406.1	11q23.3	2011-04-06			2011-04-06			ENSG00000118181	ENSG00000118181	ENSG00000118181	ENSG00000118181		"""S ribosomal proteins"""	"""S ribosomal proteins"""	10413	10413	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180465	180465						1748303	1748303	Standard	Standard	NM_001028	NM_001028		Approved	S25	uc001pun.2	uc001pun.2	P62851	P62851	OTTHUMG00000166350	OTTHUMG00000166350	ENST00000527673.1:c.174C>G	11.37:g.118888181G>C				p.L58L	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	3	579	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	58		B2R4M7|P25111	Silent	SNP	ENST00000527673.1	37	c.174C>G	CCDS8406.1																																																																																									0.463	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1		45.375033	-6	-6	66	66	NM_001028		16	47.839408	47.839408	41	0.280702	0	0	0	1	0	16	41	0.280702
IFNLR1	163702	broad.mit.edu	37	1	24484271	24484271	+	Silent	SNP	C	C	T	rs543005854		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:24484271C>T	ENST00000327535.1	-	7	924	c.912G>A	c.(910-912)ccG>ccA	p.P304P	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Silent_p.P275P	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	304					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CTCGAGGCGTCGGCCTGACCC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17275	0.0		0.0	False		,,,				2504	0.001					ENST00000327535.1											0										c.(910-912)ccG>ccA	interferon, lambda receptor 1						133.0	136.0	135.0					1																	24484271		2203	4300	6503	SO:0001819	synonymous_variant	163702						g.chr1:24484271C>T	AY129153	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436	ENSG00000185436	ENSG00000185436		"""Interferons"""	"""Interferons"""	18584	18584	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	"""interferon lambda receptor 1"""	607404	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA				Standard	Standard	NM_173064	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	uc001bis.3	Q8IU57	Q8IU57	OTTHUMG00000003036	OTTHUMG00000003036	ENST00000327535.1:c.912G>A	1.37:g.24484271C>T			IFNLR1_ENST00000374421.3_Silent_p.P275P|IFNLR1_ENST00000327575.2_3'UTR	p.P304P	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					7	924	-					Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	c.912G>A	CCDS248.1																																																																																									0.582	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1		150.961079	-39	-39	138	138	NM_170743		46	151.427877	151.427877	33	0.582278	0	0	0	1	0	46	33	0.582278
CPVL	54504	broad.mit.edu	37	7	29103844	29103844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr7:29103844C>A	ENST00000409850.1	-	15	1616	c.970G>T	c.(970-972)Gag>Tag	p.E324*	CPVL_ENST00000265394.5_Nonsense_Mutation_p.E324*|CPVL_ENST00000396276.3_Nonsense_Mutation_p.E324*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	324						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AGCTGATCCTCAGGTTCCTGG	0.423																																						ENST00000409850.1											0			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(970-972)Gag>Tag	carboxypeptidase, vitellogenic-like						70.0	72.0	71.0					7																	29103844		2203	4300	6503	SO:0001587	stop_gained	54504			proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29103844C>A	AF106704	AF106704	CCDS5419.1	CCDS5419.1	7p15.1	2012-02-10			2012-02-10			ENSG00000106066	ENSG00000106066	ENSG00000106066	ENSG00000106066				14399	14399	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780	609780						11401439	11401439	Standard	Standard	XM_005249786	XM_005249786		Approved		uc003szw.3	uc003szw.3	Q9H3G5	Q9H3G5	OTTHUMG00000023669	OTTHUMG00000023669	ENST00000409850.1:c.970G>T	7.37:g.29103844C>A	ENSP00000387164:p.Glu324*		CPVL_ENST00000265394.5_Nonsense_Mutation_p.E324*|CPVL_ENST00000396276.3_Nonsense_Mutation_p.E324*	p.E324*			Q9H3G5	CPVL_HUMAN			15	1616	-			324		A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Nonsense_Mutation	SNP	ENST00000409850.1	37	c.970G>T	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.080750|7.080750	0.98051|0.98051	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995|ENST00000432534	.|.	.|.	.|.	5.87|5.87	4.05|4.05	0.47172|0.47172	5.87|5.87	4.05|4.05	0.47172|0.47172	.|.	0.222920|.	0.44688|.	D|.	0.000421|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.06236|.	T|.	0.91|.	-20.1695|-20.1695	7.4405|7.4405	0.27181|0.27181	0.1346:0.7223:0.0:0.1431|0.1346:0.7223:0.0:0.1431	.|.	.|.	.|.	.|.	X|L	324;324;324;208|27	.|.	ENSP00000265394:E324X|.	E|X	-|-	1|2	0|2	0|2	CPVL|CPVL	29070369|29070369	29070369|29070369	0.995000|0.995000	0.38212|0.38212	0.997000|0.997000	0.53966|0.53966	0.899000|0.899000	0.52679|0.52679	1.171000|1.171000	0.31896|0.31896	0.915000|0.915000	0.36847|0.36847	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.423	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1		25.964684	1	1	42	42	NM_019029		9	26.757934	26.757934	19	0.321429	1	0	6.40141e-05	1	6.8015e-05	9	19	0.321429
PLCB4	5332	broad.mit.edu	37	20	9389753	9389753	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:9389753G>T	ENST00000378493.1	+	20	1903	c.1888G>T	c.(1888-1890)Gat>Tat	p.D630Y	PLCB4_ENST00000378473.3_Missense_Mutation_p.D642Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630Y|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642Y|PLCB4_ENST00000378501.2_Missense_Mutation_p.D630Y			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGGCCGAGTCGATTCCAGTAA	0.448																																						ENST00000378501.2											0			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1888-1890)Gat>Tat	phospholipase C, beta 4						67.0	57.0	60.0					20																	9389753		2203	4300	6503	SO:0001583	missense	5332			intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389753G>T			CCDS13104.1, CCDS13105.1, CCDS54447.1	CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			2008-03-18			ENSG00000101333	ENSG00000101333	ENSG00000101333	ENSG00000101333	3.1.4.11			9059	9059	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600810	600810						8530101	8530101	Standard	Standard	NM_000933	NM_000933		Approved		uc021wam.1	uc021wam.1	Q15147	Q15147	OTTHUMG00000031853	OTTHUMG00000031853	ENST00000378493.1:c.1888G>T	20.37:g.9389753G>T	ENSP00000367754:p.Asp630Tyr		PLCB4_ENST00000334005.3_Missense_Mutation_p.D630Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D630Y	p.D630Y	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			20	1903	+			630	PI-PLC Y-box.	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1888G>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009532	0.93346	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	6.04	6.04	0.98038	6.04	6.04	0.98038	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	H	0.94582	3.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.965;0.999;0.996	D	0.87247	0.2270	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	642;477;630;630	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	Y	630;642;630;630;630;478	ENSP00000334105:D630Y;ENSP00000367734:D642Y;ENSP00000278655:D630Y;ENSP00000367754:D630Y;ENSP00000367762:D630Y;ENSP00000390616:D478Y	ENSP00000278655:D630Y	D	+	1	0	0	PLCB4	9337753	9337753	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAT		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		87.686951	-32	-32	70	70			28	88.298896	88.298896	42	0.400000	1	0	6.38683e-12	1	7.23841e-12	28	42	0.4
IL12RB2	3595	broad.mit.edu	37	1	67845674	67845674	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:67845674C>A	ENST00000262345.1	+	13	2363	c.1723C>A	c.(1723-1725)Ccc>Acc	p.P575T	IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P489T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.P575T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.P575T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	575	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTCAGAAATTCCCTACAGAGT	0.403																																						ENST00000262345.1											0			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(1723-1725)Ccc>Acc	interleukin 12 receptor, beta 2						76.0	75.0	76.0					1																	67845674		2203	4300	6503	SO:0001583	missense	3595			positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67845674C>A	U64198	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			2014-07-15			ENSG00000081985	ENSG00000081985	ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	5972	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601642	601642						9284929, 8943050	9284929, 8943050	Standard	Standard	NM_001559	NM_001559		Approved		uc001ddu.3	uc001ddu.3	Q99665	Q99665	OTTHUMG00000009094	OTTHUMG00000009094	ENST00000262345.1:c.1723C>A	1.37:g.67845674C>A	ENSP00000262345:p.Pro575Thr		IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P489T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.P575T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.P575T	p.P575T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			13	2363	+			575	Fibronectin type-III 5.	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.1723C>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067970	0.36470	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.39	4.48	0.54585	5.39	4.48	0.54585	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.516425	0.19907	N	0.103392	T	0.45337	0.1337	M	0.61703	1.905	0.25770	N	0.984845	D;D;P;D	0.67145	0.982;0.996;0.9;0.982	P;P;B;P	0.61874	0.824;0.895;0.39;0.824	T	0.33854	-0.9852	10	0.10636	T	0.68	-9.2277	10.1953	0.43051	0.0:0.908:0.0:0.092	.	575;489;575;575	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	T	575;575;575;489	ENSP00000262345:P575T;ENSP00000360039:P575T;ENSP00000445276:P575T;ENSP00000442443:P489T	ENSP00000262345:P575T	P	+	1	0	0	IL12RB2	67618262	67618262	0.060000	0.20803	0.980000	0.43619	0.292000	0.27327	0.964000	0.29306	1.420000	0.47138	0.557000	0.71058	CCC		0.403	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2		43.078880	-5	-5	63	63	NM_001559		16	44.936786	44.936786	37	0.301887	1	0	6.49762e-13	1	7.6179e-13	16	37	0.301887
FBLN7	129804	broad.mit.edu	37	2	112942885	112942885	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:112942885G>A	ENST00000331203.2	+	7	1187	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	FBLN7_ENST00000409450.3_Missense_Mutation_p.G260S|FBLN7_ENST00000409903.1_Missense_Mutation_p.G306S|FBLN7_ENST00000409667.3_Missense_Mutation_p.G172S	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	306	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGAGGGCAGCGGCAATGTGAG	0.617																																						ENST00000331203.2											0			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(916-918)Ggc>Agc	fibulin 7						122.0	103.0	109.0					2																	112942885		2203	4300	6503	SO:0001583	missense	129804			cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112942885G>A			CCDS2095.1, CCDS46391.1	CCDS2095.1, CCDS46391.1	2q13	2010-06-15			2010-06-15			ENSG00000144152	ENSG00000144152	ENSG00000144152	ENSG00000144152		"""Fibulins"""	"""Fibulins"""	26740	26740	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611551	611551						17699513	17699513	Standard	Standard	NM_153214	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	uc002tho.1	Q53RD9	Q53RD9	OTTHUMG00000153267	OTTHUMG00000153267	ENST00000331203.2:c.916G>A	2.37:g.112942885G>A	ENSP00000331411:p.Gly306Ser		FBLN7_ENST00000409903.1_Missense_Mutation_p.G306S|FBLN7_ENST00000409450.3_Missense_Mutation_p.G260S|FBLN7_ENST00000409667.3_Missense_Mutation_p.G172S	p.G306S	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			7	1187	+			306	EGF-like 3; calcium-binding (Potential).	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.916G>A	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532357	0.64972	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.37	0.171	0.15026	5.37	0.171	0.15026	EGF-like calcium-binding (2);	0.297460	0.42053	N	0.000765	D	0.84361	0.5455	L	0.41824	1.3	0.44627	D	0.997607	B;B;B;D	0.57257	0.056;0.041;0.03;0.979	B;B;B;B	0.43018	0.045;0.027;0.017;0.405	T	0.77923	-0.2406	10	0.15066	T	0.55	-14.0909	6.5848	0.22614	0.2053:0.2385:0.5562:0.0	.	172;260;306;306	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	S	306;306;172;260;200;128	ENSP00000331411:G306S;ENSP00000386295:G306S;ENSP00000386822:G172S;ENSP00000387000:G260S;ENSP00000388025:G200S;ENSP00000272559:G128S	ENSP00000272559:G128S	G	+	1	0	0	FBLN7	112659356	112659356	0.930000	0.31532	0.842000	0.33263	0.977000	0.68977	1.398000	0.34554	0.002000	0.14630	0.561000	0.74099	GGC		0.617	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1		-0.307145	4	4	53	53	NM_153214		3	7.105567	7.105567	37	0.075000	0	0	0	1	0	3	37	0.075
OLFM4	10562	broad.mit.edu	37	13	53624627	53624627	+	Silent	SNP	A	A	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr13:53624627A>G	ENST00000219022.2	+	5	1332	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	418	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTCAGGTGCTAAACACTTGGT	0.433																																						ENST00000219022.2											0			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(1252-1254)ctA>ctG	olfactomedin 4						158.0	138.0	145.0					13																	53624627		2203	4300	6503	SO:0001819	synonymous_variant	10562			cell adhesion	extracellular space		g.chr13:53624627A>G	AY358567	AY358567	CCDS9440.1	CCDS9440.1	13q14	2004-06-25			2004-06-25			ENSG00000102837	ENSG00000102837	ENSG00000102837	ENSG00000102837				17190	17190	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614061	614061								Standard	Standard	NM_006418	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	uc001vhl.3	Q6UX06	Q6UX06	OTTHUMG00000016981	OTTHUMG00000016981	ENST00000219022.2:c.1254A>G	13.37:g.53624627A>G				p.L418L	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1332	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	418	Olfactomedin-like.	O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.1254A>G	CCDS9440.1																																																																																									0.433	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2		-17.720461	4	4	123	123	NM_006418		4	6.771736	6.771736	101	0.038095	0	0	0	1	0	4	101	0.038095
CEP192	55125	broad.mit.edu	37	18	13096255	13096255	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr18:13096255G>T	ENST00000325971.8	+	34	6311	c.4718G>T	c.(4717-4719)tGg>tTg	p.W1573L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.W1694L|CEP192_ENST00000506447.1_Missense_Mutation_p.W2169L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1573					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGCTGTGCTGGCCAGCGCAT	0.483																																						ENST00000506447.1											0			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6505-6507)tGg>tTg	centrosomal protein 192kDa						111.0	105.0	107.0					18																	13096255		2203	4300	6503	SO:0001583	missense	55125						g.chr18:13096255G>T	AK074074	AK074074	CCDS32792.1, CCDS32792.2	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20			2014-02-20				ENSG00000101639		ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	25515	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""	"""protein phosphatase 1, regulatory subunit 62"""								11230166, 14654843	11230166, 14654843	Standard	Standard	NM_032142	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	uc010xac.2	Q8TEP8	Q8TEP8			ENST00000325971.8:c.4718G>T	18.37:g.13096255G>T	ENSP00000317156:p.Trp1573Leu		CEP192_ENST00000430049.2_Missense_Mutation_p.W1694L|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.W1573L	p.W2169L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			36	6586	+			1764		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6506G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.235481	0.95240	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.56275	0.47;0.47;0.47	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.77189	-0.2679	10	0.87932	D	0	-6.5846	18.9658	0.92695	0.0:0.0:1.0:0.0	.	1694;2169;173;771	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	L	2169;1573;1573;1694;173	ENSP00000427550:W2169L;ENSP00000317156:W1573L;ENSP00000389190:W1694L	ENSP00000317156:W1573L	W	+	2	0	0	CEP192	13086255	13086255	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.035000	0.93752	2.477000	0.83638	0.491000	0.48974	TGG		0.483	CEP192-201	KNOWN	basic	protein_coding	protein_coding			68.205973	-6	-6	56	56	NM_032142		23	69.542764	69.542764	43	0.348485	1	0	1.64293e-13	1	2.06888e-13	23	43	0.348485
CTTNBP2NL	55917	broad.mit.edu	37	1	112999731	112999731	+	Silent	SNP	T	T	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:112999731T>C	ENST00000271277.6	+	6	1842	c.1617T>C	c.(1615-1617)acT>acC	p.T539T	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	539					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCCAACACTGCCAATCCAA	0.542																																						ENST00000271277.6											0			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1615-1617)acT>acC	CTTNBP2 N-terminal like						147.0	134.0	138.0					1																	112999731		2203	4300	6503	SO:0001819	synonymous_variant	55917				actin cytoskeleton	protein binding	g.chr1:112999731T>C	AB037854	AB037854	CCDS845.1	CCDS845.1	1p13.2	2008-02-05			2008-02-05			ENSG00000143079	ENSG00000143079	ENSG00000143079	ENSG00000143079				25330	25330	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615100	615100						10718198	10718198	Standard	Standard	NM_018704	NM_018704		Approved	DKFZp547A023	uc001ebx.3	uc001ebx.3	Q9P2B4	Q9P2B4	OTTHUMG00000011154	OTTHUMG00000011154	ENST00000271277.6:c.1617T>C	1.37:g.112999731T>C			CTTNBP2NL_ENST00000607039.1_3'UTR	p.T539T	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1842	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	539		B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	c.1617T>C	CCDS845.1																																																																																									0.542	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1		108.759345	-14	-14	82	82	NM_018704		37	109.019271	109.019271	47	0.440476	0	0	0	1	0	37	47	0.440476
DNER	92737	broad.mit.edu	37	2	230231716	230231716	+	Missense_Mutation	SNP	C	C	T	rs370587377		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:230231716C>T	ENST00000341772.4	-	12	2109	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	659					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAAATCCCCACGATCAGGATG	0.557																																						ENST00000341772.4											0			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1975-1977)Gtg>Atg	delta/notch-like EGF repeat containing	C	MET/VAL	0,4406		0,0,2203	60.0	49.0	53.0		1975	5.8	1.0	2		53	1,8599		0,1,4299	no	missense	DNER	NM_139072.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	659/738	230231716	1,13005	2203	4300	6503	SO:0001583	missense	92737			central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230231716C>T	AY358891	AY358891	CCDS33390.1	CCDS33390.1	2q36.3	2006-10-26			2006-10-26			ENSG00000187957	ENSG00000187957	ENSG00000187957	ENSG00000187957				24456	24456	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607299	607299						11950833, 11997712	11950833, 11997712	Standard	Standard	NM_139072	NM_139072		Approved	UNQ26, bet	uc002vpv.3	uc002vpv.3	Q8NFT8	Q8NFT8	OTTHUMG00000153637	OTTHUMG00000153637	ENST00000341772.4:c.1975G>A	2.37:g.230231716C>T	ENSP00000345229:p.Val659Met			p.V659M	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	12	2109	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	659		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1975G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929003	0.92389	0.0	1.16E-4	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86366	-2.11	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87795	0.2621	10	0.31617	T	0.26	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	659	Q8NFT8	DNER_HUMAN	M	659;377	ENSP00000345229:V659M	ENSP00000345229:V659M	V	-	1	0	0	DNER	229939960	229939960	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.397000	0.79903	2.760000	0.94817	0.551000	0.68910	GTG		0.557	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1		18.346161	8	8	29	29	NM_139072		6	18.669813	18.669813	11	0.352941	0	0	0	1	0	6	11	0.352941
CGNL1	84952	broad.mit.edu	37	15	57837822	57837822	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr15:57837822G>A	ENST00000281282.5	+	17	3611	c.3533G>A	c.(3532-3534)cGg>cAg	p.R1178Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1178						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAACCGGCGGCTGGAGCGG	0.597																																						ENST00000281282.5											0			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(3532-3534)cGg>cAg	cingulin-like 1						50.0	40.0	43.0					15																	57837822		2192	4292	6484	SO:0001583	missense	84952				myosin complex|tight junction	motor activity	g.chr15:57837822G>A	AY274808	AY274808	CCDS10161.1	CCDS10161.1	15q21.3	2011-06-10			2011-06-10			ENSG00000128849	ENSG00000128849	ENSG00000128849	ENSG00000128849				25931	25931	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607856	607856						11214970	11214970	Standard	Standard	NM_001252335	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	uc002aeg.3	Q0VF96	Q0VF96	OTTHUMG00000166485	OTTHUMG00000166485	ENST00000281282.5:c.3533G>A	15.37:g.57837822G>A	ENSP00000281282:p.Arg1178Gln			p.R1178Q	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	17	3611	+			1178		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.3533G>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180297	0.94846	.	.	ENSG00000128849	ENST00000281282	T	0.80304	-1.36	5.39	5.39	0.77823	5.39	5.39	0.77823	Myosin tail (1);	0.000000	0.48767	D	0.000163	D	0.87752	0.6256	L	0.58583	1.82	0.50632	D	0.999888	D	0.65815	0.995	D	0.66602	0.945	D	0.87402	0.2370	10	0.49607	T	0.09	-35.3467	19.1895	0.93658	0.0:0.0:1.0:0.0	.	1178	Q0VF96	CGNL1_HUMAN	Q	1178	ENSP00000281282:R1178Q	ENSP00000281282:R1178Q	R	+	2	0	0	CGNL1	55625114	55625114	1.000000	0.71417	0.954000	0.39281	0.994000	0.84299	4.809000	0.62591	2.526000	0.85167	0.563000	0.77884	CGG		0.597	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2		18.045608	0	0	24	24	NM_032866		6	18.369507	18.369507	11	0.352941	0	0	0	1	0	6	11	0.352941
THSD4	79875	broad.mit.edu	37	15	72063481	72063481	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr15:72063481T>G	ENST00000355327.3	+	17	2982	c.2848T>G	c.(2848-2850)Tgt>Ggt	p.C950G	THSD4_ENST00000357769.4_Missense_Mutation_p.C590G|THSD4_ENST00000261862.6_Missense_Mutation_p.C950G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	950	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGTAACCTCTGTGACCCTCA	0.488																																						ENST00000355327.3											0			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2848-2850)Tgt>Ggt	thrombospondin, type I, domain containing 4						158.0	150.0	153.0					15																	72063481		1883	4111	5994	SO:0001583	missense	79875				proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72063481T>G	AK023772	AK023772	CCDS10238.2, CCDS66817.1	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			2009-11-09			ENSG00000187720	ENSG00000187720	ENSG00000187720	ENSG00000187720				25835	25835	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614476	614476						19734141	19734141	Standard	Standard	NM_001286429	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	uc002atb.1	Q6ZMP0	Q6ZMP0	OTTHUMG00000133389	OTTHUMG00000133389	ENST00000355327.3:c.2848T>G	15.37:g.72063481T>G	ENSP00000347484:p.Cys950Gly		THSD4_ENST00000357769.4_Missense_Mutation_p.C590G|THSD4_ENST00000261862.6_Missense_Mutation_p.C950G	p.C950G			Q6ZMP0	THSD4_HUMAN			17	2982	+			950	TSP type-1 6.	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2848T>G	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457252	0.84317	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.69175	-0.38;-0.38;-0.38	5.05	5.05	0.67936	5.05	5.05	0.67936	.	.	.	.	.	D	0.84911	0.5577	H	0.97806	4.08	0.80722	D	1	P;P	0.42296	0.775;0.775	P;P	0.52031	0.688;0.688	D	0.89027	0.3439	9	0.62326	D	0.03	.	12.7715	0.57423	0.0:0.0:0.0:1.0	.	590;950	B4DR13;Q6ZMP0	.;THSD4_HUMAN	G	950;950;590	ENSP00000347484:C950G;ENSP00000261862:C950G;ENSP00000350413:C590G	ENSP00000261862:C950G	C	+	1	0	0	THSD4	69850535	69850535	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.856000	0.86956	1.907000	0.55213	0.455000	0.32223	TGT		0.488	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		154.906130	-25	-25	96	96	NM_024817		51	155.494831	155.494831	69	0.425000	0	0	0	1	0	51	69	0.425
SEMA5A	9037	hgsc.bcm.edu	37	5	9054213	9054213	+	Missense_Mutation	SNP	G	G	A	rs140400463	byFrequency	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:9054213G>A	ENST00000382496.5	-	19	3340	c.2675C>T	c.(2674-2676)aCg>aTg	p.T892M	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	892	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCAGGGCTGCGTGTTGCAGAG	0.542													G|||	5	0.000998403	0.0008	0.0058	5008	,	,		19248	0.0		0.0	False		,,,				2504	0.0																0												G	MET/THR	0,4406		0,0,2203	78.0	74.0	76.0		2675	5.5	1.0	5	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SEMA5A	NM_003966.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	892/1075	9054213	2,13004	2203	4300	6503	SO:0001583	missense	9037							U52840	U52840	CCDS3875.1	CCDS3875.1	5p15.2	2008-05-15			2008-05-15			ENSG00000112902	ENSG00000112902	ENSG00000112902	ENSG00000112902		"""Semaphorins"""	"""Semaphorins"""	10736	10736	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609297	609297		SEMAF		SEMAF		8817451, 9464278	8817451, 9464278	Standard	Standard	NM_003966	NM_003966		Approved	semF	uc003jek.2	uc003jek.2	Q13591	Q13591	OTTHUMG00000090501	OTTHUMG00000090501	ENST00000382496.5:c.2675C>T	5.37:g.9054213G>A	ENSP00000371936:p.Thr892Met																	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37		CCDS3875.1	3	0.0013736263736263737	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	0	0.0	G	15.53	2.861989	0.51482	0.0	2.33E-4	ENSG00000112902	ENST00000382496	T	0.48836	0.8	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.046532	0.85682	D	0.000000	T	0.55816	0.1944	M	0.63208	1.945	0.51767	D	0.999936	D	0.76494	0.999	D	0.69307	0.963	T	0.53265	-0.8463	10	0.18710	T	0.47	.	17.1979	0.86898	0.0:0.0:1.0:0.0	.	892	Q13591	SEM5A_HUMAN	M	892	ENSP00000371936:T892M	ENSP00000371936:T892M	T	-	2	0	0	SEMA5A	9107213	9107213	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	7.485000	0.81204	2.722000	0.93159	0.561000	0.74099	ACG		0.542	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			9	9	63	63			6			70							6	70	
SLC22A5	6584	broad.mit.edu	37	5	131714157	131714157	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:131714157G>T	ENST00000245407.3	+	2	702	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	SLC22A5_ENST00000435065.2_Missense_Mutation_p.G185W	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	161					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CTTCATTTCAGGGCAGCTGTC	0.552																																						ENST00000245407.3											0			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(481-483)Ggg>Tgg	solute carrier family 22 (organic cation/carnitine transporter), member 5						220.0	211.0	214.0					5																	131714157		2203	4300	6503	SO:0001583	missense	6584			positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131714157G>T	AF057164	AF057164	CCDS4154.1	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375	ENSG00000197375	ENSG00000197375		"""Solute carriers"""	"""Solute carriers"""	10969	10969	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603377	603377		CDSP		CDSP		9618255, 9916797, 9685390	9618255, 9916797, 9685390	Standard	Standard	NM_003060	NM_003060		Approved	OCTN2, SCD	uc003kww.4	uc003kww.4	O76082	O76082	OTTHUMG00000059634	OTTHUMG00000059634	ENST00000245407.3:c.481G>T	5.37:g.131714157G>T	ENSP00000245407:p.Gly161Trp		SLC22A5_ENST00000435065.2_Missense_Mutation_p.G185W	p.G161W	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	702	+		all_cancers(142;0.0751)|Breast(839;0.198)	161		A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.481G>T	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561722	0.65538	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.74002	-0.8;-0.8;-0.8	5.63	5.63	0.86233	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95343	0.8440	10	0.87932	D	0	.	20.0314	0.97540	0.0:0.0:1.0:0.0	.	185;161	A2Q0V1;O76082	.;S22A5_HUMAN	W	161;185;84	ENSP00000245407:G161W;ENSP00000402760:G185W;ENSP00000388838:G84W	ENSP00000245407:G161W	G	+	1	0	0	SLC22A5	131742056	131742056	1.000000	0.71417	0.992000	0.48379	0.269000	0.26545	9.242000	0.95408	2.802000	0.96397	0.561000	0.74099	GGG		0.552	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1		188.258769	-22	-22	159	159	NM_003060		63	190.381284	190.381284	103	0.379518	1	0	3.84483e-29	1	5.02786e-29	63	103	0.379518
PTK7	5754	broad.mit.edu	37	6	43111198	43111198	+	Silent	SNP	C	C	G	rs373906232		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr6:43111198C>G	ENST00000230419.4	+	14	2312	c.2091C>G	c.(2089-2091)ccC>ccG	p.P697P	PTK7_ENST00000349241.2_Silent_p.P567P|PTK7_ENST00000352931.2_Silent_p.P641P|PTK7_ENST00000481273.1_Silent_p.P705P|PTK7_ENST00000345201.2_Silent_p.P657P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	697					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGCCCTCCCCCCTACAAGA	0.602											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4											0			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2089-2091)ccC>ccG	protein tyrosine kinase 7						74.0	76.0	75.0					6																	43111198		2203	4300	6503	SO:0001819	synonymous_variant	0			actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43111198C>G	AF447176	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	9618	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601890	601890	"""PTK7 protein tyrosine kinase 7"""		"""PTK7 protein tyrosine kinase 7"""			7478540	7478540	Standard	Standard	NM_002821	NM_002821		Approved	CCK4	uc011dve.2	uc011dve.2	Q13308	Q13308	OTTHUMG00000014721	OTTHUMG00000014721	ENST00000230419.4:c.2091C>G	6.37:g.43111198C>G		913	PTK7_ENST00000349241.2_Silent_p.P567P|PTK7_ENST00000481273.1_Silent_p.P705P|PTK7_ENST00000345201.2_Silent_p.P657P|PTK7_ENST00000352931.2_Silent_p.P641P	p.P697P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		14	2312	+			697		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.2091C>G	CCDS4884.1																																																																																									0.602	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		72.052668	4	4	94	94			25	73.422614	73.422614	46	0.352113	0	0	0	1	0	25	46	0.352113
TIMM50	92609	broad.mit.edu	37	19	39971353	39971368	+	5'Flank	DEL	TGCGGCAATCCGCCCG	TGCGGCAATCCGCCCG	-			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr19:39971353_39971368delTGCGGCAATCCGCCCG	ENST00000607714.1	+	0	0				TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000599794.1_5'Flank|TIMM50_ENST00000314349.4_Frame_Shift_Del_p.CGNPPD57fs			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAAACGCGCCTGCGGCAATCCGCCCGATGCCTTTGG	0.667																																						ENST00000314349.4											0			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(169-186)tgcggcaatccgcccgatfs	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)																																			SO:0001631	upstream_gene_variant	92609			mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39971353_39971368delTGCGGCAATCCGCCCG	BC009072	BC009072	CCDS33023.1	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197	ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	23656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607381	607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""		"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	12437925	Standard	Standard	NM_001001563	NM_001001563		Approved	TIM50L	uc002olu.1	uc002olu.1	Q3ZCQ8	Q3ZCQ8				19.37:g.39971353_39971368delTGCGGCAATCCGCCCG	Exception_encountered			p.CGNPPD57fs	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	302_317	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		33		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Frame_Shift_Del	DEL	ENST00000607714.1	37	c.169_184delTGCGGCAATCCGCCCG																																																																																										0.667	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	.	.	-8	-8	37	37	NM_001001563		6			13	0.32						6	13	0.32
