#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PLA2G4E	123745	broad.mit.edu	37	15	42279575	42279575	+	Splice_Site	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr15:42279575T>G	ENST00000399518.3	-	17	2318		c.e17-2		PLA2G4E_ENST00000413860.2_Splice_Site|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCTCGTCTTCTGCAGGGGAGG	0.577																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.e17-2		phospholipase A2, group IVE							45.0	47.0	46.0					15																	42279575		1959	4137	6096	SO:0001630	splice_region_variant	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42279575T>G		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1832-2A>C	15.37:g.42279575T>G						CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Splice_Site		NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	17	2318	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)						Q6ZSC0	Splice_Site	SNP	ENST00000399518.3	37		CCDS55962.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.188815	0.38609	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	.	.	.	5.77	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.041	0.42158	0.1504:0.0:0.0:0.8496	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4E	40066867	1.000000	0.71417	0.999000	0.59377	0.463000	0.32649	4.734000	0.62043	0.984000	0.38629	0.529000	0.55759	.		0.577	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442	Intron	4	12	0	0	0	1	0	4	12				
MYBPC3	4607	broad.mit.edu	37	11	47360181	47360181	+	Missense_Mutation	SNP	C	C	T	rs534345197		TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:47360181C>T	ENST00000545968.1	-	23	2252	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R732H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R733H	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	733	Ig-like C2-type 5.		R -> C (in CMH4). {ECO:0000269|PubMed:15519027}.		cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAGATGCTGCGGTCCTTGGT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17879	0.0		0.001	False		,,,				2504	0.0					ENST00000545968.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2197-2199)cGc>cAc		myosin binding protein C, cardiac							75.0	75.0	75.0					11																	47360181		2074	4190	6264	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360181C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2198G>A	11.37:g.47360181C>T	ENSP00000442795:p.Arg733His					MYBPC3_ENST00000256993.4_Missense_Mutation_p.R732H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R733H	p.R733H	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN		Lung(87;0.176)	23	2252	-			732			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2198G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789362	0.31685	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68025	-0.3;-0.3;-0.3	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37046	0.0989	N	0.02865	-0.47	0.45777	D	0.998665	B	0.10296	0.003	B	0.10450	0.005	T	0.35798	-0.9774	9	0.15066	T	0.55	.	7.0416	0.25023	0.0:0.7913:0.0:0.2087	.	732	Q14896	MYPC3_HUMAN	H	733;733;732	ENSP00000442795:R733H;ENSP00000382193:R733H;ENSP00000256993:R732H	ENSP00000256993:R732H	R	-	2	0	MYBPC3	47316757	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.074000	0.50065	2.536000	0.85505	0.563000	0.77884	CGC		0.632	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			3	18	0	0	0	1	0	3	18				
PCDHGA1	56114	broad.mit.edu	37	5	140712441	140712441	+	Silent	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr5:140712441C>T	ENST00000517417.1	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHGA1_ENST00000378105.3_Silent_p.G730G	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	730					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G730G(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGGGAGGCGGCTTAGCGA	0.662																																						ENST00000517417.1																			4	Substitution - coding silent(4)	p.G730G(4)	large_intestine(2)|endometrium(2)	breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2188-2190)ggC>ggT									65.0	70.0	68.0					5																	140712441		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140712441C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2190C>T	5.37:g.140712441C>T						PCDHGA1_ENST00000378105.3_Silent_p.G730G	p.G730G	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2190	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2190C>T	CCDS54922.1																																																																																				0.662	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		13	75	0	0	0	1	0	13	75				
JAKMIP1	152789	broad.mit.edu	37	4	6066624	6066624	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:6066624C>T	ENST00000282924.5	-	9	1899	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E287K|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E472K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E307K|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E472K	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	472	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAGTCTTCTTCGGGCGTGGCT	0.532																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1414-1416)Gaa>Aaa		janus kinase and microtubule interacting protein 1							160.0	134.0	143.0					4																	6066624		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6066624C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1414G>A	4.37:g.6066624C>T	ENSP00000282924:p.Glu472Lys					JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E472K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E287K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E307K|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E472K	p.E472K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			9	1863	-			472			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1414G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396387	0.83011	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.32988	1.85;1.44;1.85;1.85;1.43	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000002	T	0.46425	0.1392	M	0.62723	1.935	0.54753	D	0.999989	D;D;D;D;D	0.69078	0.987;0.986;0.997;0.997;0.986	P;P;P;P;P	0.56042	0.573;0.555;0.79;0.715;0.63	T	0.46762	-0.9168	10	0.48119	T	0.1	.	16.0347	0.80617	0.0:1.0:0.0:0.0	.	307;472;287;472;472	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	K	472;287;472;364;472;472;307	ENSP00000386711:E472K;ENSP00000387042:E287K;ENSP00000282924:E472K;ENSP00000386925:E472K;ENSP00000386745:E307K	ENSP00000282924:E472K	E	-	1	0	JAKMIP1	6117525	1.000000	0.71417	0.851000	0.33527	0.948000	0.59901	7.140000	0.77322	2.202000	0.70862	0.561000	0.74099	GAA		0.532	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		6	41	0	0	0	1	0	6	41				
ARHGEF17	9828	broad.mit.edu	37	11	73020726	73020726	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:73020726C>T	ENST00000263674.3	+	1	1393	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	348					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTAGTGGCTCTCCGCCCTGC	0.612																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1042-1044)tCt>tTt		Rho guanine nucleotide exchange factor (GEF) 17							48.0	48.0	48.0					11																	73020726		2164	4230	6394	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020726C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1043C>T	11.37:g.73020726C>T	ENSP00000263674:p.Ser348Phe						p.S348F	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1393	+			348					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1043C>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503390	0.26949	.	.	ENSG00000110237	ENST00000263674	T	0.58210	0.35	4.85	-0.126	0.13515	.	0.722722	0.11443	N	0.563607	T	0.31670	0.0804	N	0.19112	0.55	0.09310	N	1	B	0.25169	0.119	B	0.21917	0.037	T	0.26503	-1.0101	10	0.72032	D	0.01	0.093	3.8394	0.08908	0.3167:0.4554:0.0:0.2279	.	348	Q96PE2	ARHGH_HUMAN	F	348	ENSP00000263674:S348F	ENSP00000263674:S348F	S	+	2	0	ARHGEF17	72698374	0.000000	0.05858	0.013000	0.15412	0.838000	0.47535	0.084000	0.14891	0.453000	0.26858	0.462000	0.41574	TCT		0.612	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		21	39	0	0	0	1	0	21	39				
XIRP1	165904	broad.mit.edu	37	3	39225934	39225934	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr3:39225934G>A	ENST00000340369.3	-	2	5231	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F	XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1668					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTTGGGGAGGAGGGAGAATC	0.537																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5002-5004)tCc>tTc		xin actin-binding repeat containing 1							83.0	88.0	87.0					3																	39225934		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225934G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5003C>T	3.37:g.39225934G>A	ENSP00000343140:p.Ser1668Phe					XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR	p.S1668F	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5231	-			1668					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5003C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235519	0.58886	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.35789	3.2;1.29	4.75	1.69	0.24217	.	0.309106	0.30869	U	0.008715	T	0.41026	0.1141	L	0.61218	1.895	0.39922	D	0.974177	D	0.55385	0.971	P	0.51487	0.671	T	0.32161	-0.9917	10	0.48119	T	0.1	.	7.8828	0.29631	0.0915:0.329:0.5794:0.0	.	1668	Q702N8	XIRP1_HUMAN	F	1668;351	ENSP00000343140:S1668F;ENSP00000391645:S351F	ENSP00000343140:S1668F	S	-	2	0	XIRP1	39200938	0.638000	0.27225	0.700000	0.30305	0.914000	0.54420	1.813000	0.38962	0.535000	0.28714	0.655000	0.94253	TCC		0.537	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		13	61	0	0	0	1	0	13	61				
TMEM31	203562	broad.mit.edu	37	X	102968708	102968708	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chrX:102968708T>A	ENST00000319560.6	+	3	480	c.289T>A	c.(289-291)Ttt>Att	p.F97I	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	97						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TTATCCTGAATTTCTTCTGGT	0.463																																						ENST00000319560.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						c.(289-291)Ttt>Att		transmembrane protein 31							246.0	196.0	213.0					X																	102968708		2203	4300	6503	SO:0001583	missense	203562					integral to membrane		g.chrX:102968708T>A	BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.289T>A	X.37:g.102968708T>A	ENSP00000316940:p.Phe97Ile					GLRA4_ENST00000372617.4_Intron	p.F97I	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN			3	480	+			97					Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	c.289T>A	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	T	8.904	0.957011	0.18507	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.69	0.51	0.16983	.	0.427699	0.17482	N	0.172690	T	0.15262	0.0368	N	0.08118	0	0.09310	N	0.999997	B	0.29432	0.244	B	0.24848	0.056	T	0.14090	-1.0485	9	0.87932	D	0	-0.8495	4.2041	0.10480	0.3732:0.0:0.1794:0.4475	.	97	Q5JXX7	TMM31_HUMAN	I	97	.	ENSP00000316940:F97I	F	+	1	0	TMEM31	102855364	0.001000	0.12720	0.022000	0.16811	0.036000	0.12997	-0.147000	0.10234	-0.104000	0.12154	0.481000	0.45027	TTT		0.463	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		18	34	0	0	0	1	0	18	34				
DNAH3	55567	broad.mit.edu	37	16	21063004	21063004	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr16:21063004C>T	ENST00000261383.3	-	29	4224	c.4225G>A	c.(4225-4227)Gac>Aac	p.D1409N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1409N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1409	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGCAGCGGTCGGTGAGGGGT	0.562																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4225-4227)Gac>Aac		dynein, axonemal, heavy chain 3							91.0	92.0	92.0					16																	21063004		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21063004C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4225G>A	16.37:g.21063004C>T	ENSP00000261383:p.Asp1409Asn					DNAH3_ENST00000415178.1_Missense_Mutation_p.D1409N	p.D1409N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	29	4224	-			1409			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4225G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.517752	0.96416	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.14893	2.47;2.47	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68930	-0.5279	10	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	1409	Q8TD57	DYH3_HUMAN	N	1409	ENSP00000261383:D1409N;ENSP00000394245:D1409N	ENSP00000261383:D1409N	D	-	1	0	DNAH3	20970505	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	7.729000	0.84864	2.717000	0.92951	0.655000	0.94253	GAC		0.562	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		24	47	0	0	0	1	0	24	47				
ZAN	7455	broad.mit.edu	37	7	100371059	100371059	+	RNA	SNP	C	C	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:100371059C>A	ENST00000348028.3	+	0	5742				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAGTGGAACCTCCTGCGTGC	0.632																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							53.0	58.0	56.0					7																	100371059		2019	4186	6205			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100371059C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100371059C>A						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5725	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.632	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		13	16	1	0	2.27111e-07	1	2.44924e-07	13	16				
GJC1	10052	broad.mit.edu	37	17	42882370	42882370	+	Silent	SNP	C	C	G	rs539602139	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr17:42882370C>G	ENST00000426548.1	-	3	1085	c.816G>C	c.(814-816)ccG>ccC	p.P272P	GJC1_ENST00000592524.1_Silent_p.P272P|GJC1_ENST00000330514.4_Silent_p.P272P|GJC1_ENST00000590758.1_Silent_p.P272P	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	272					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TATAAGCACCCGGATCCTCAA	0.453																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(814-816)ccG>ccC		gap junction protein, gamma 1, 45kDa							133.0	134.0	134.0					17																	42882370		2203	4300	6503	SO:0001819	synonymous_variant	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882370C>G	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.816G>C	17.37:g.42882370C>G						GJC1_ENST00000592524.1_Silent_p.P272P|GJC1_ENST00000590758.1_Silent_p.P272P|GJC1_ENST00000330514.4_Silent_p.P272P	p.P272P	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	1085	-		Prostate(33;0.0959)	272					B3KW68|Q4VAY0	Silent	SNP	ENST00000426548.1	37	c.816G>C	CCDS11487.1																																																																																				0.453	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		22	73	0	0	0	1	0	22	73				
GRM8	2918	broad.mit.edu	37	7	126746596	126746596	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:126746596A>T	ENST00000339582.2	-	3	1489	c.681T>A	c.(679-681)taT>taA	p.Y227*	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227*|GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	227					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CGCTCTCACCATAGTTCCCCT	0.507										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(679-681)taT>taA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						125.0	105.0	111.0					7																	126746596		2203	4300	6503	SO:0001587	stop_gained	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746596A>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.681T>A	7.37:g.126746596A>T	ENSP00000344173:p.Tyr227*	HNSCC(24;0.065)				GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227*	p.Y227*			O00222	GRM8_HUMAN			3	1489	-		Prostate(267;0.186)	227					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Nonsense_Mutation	SNP	ENST00000339582.2	37	c.681T>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	35	5.459733	0.96240	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	.	.	.	4.97	-2.7	0.06004	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5395	0.56161	0.5145:0.0:0.4855:0.0	.	.	.	.	X	227;227;227;227;227;37	.	ENSP00000344173:Y227X	Y	-	3	2	GRM8	126533832	0.879000	0.30193	0.995000	0.50966	0.937000	0.57800	0.053000	0.14184	-0.334000	0.08463	-0.371000	0.07208	TAT		0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			12	26	0	0	0	1	0	12	26				
GRIA2	2891	broad.mit.edu	37	4	158224787	158224787	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:158224787G>A	ENST00000264426.9	+	3	592	c.313G>A	c.(313-315)Gga>Aga	p.G105R	GRIA2_ENST00000393815.2_Missense_Mutation_p.G58R|GRIA2_ENST00000449365.1_Missense_Mutation_p.G58R|GRIA2_ENST00000507898.1_Missense_Mutation_p.G58R|GRIA2_ENST00000296526.7_Missense_Mutation_p.G105R|GRIA2_ENST00000504801.1_3'UTR	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	105					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G105*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATCATTTTGCGGAACACTCCA	0.438																																						ENST00000296526.7																			2	Substitution - Nonsense(2)	p.G105*(2)	lung(2)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(313-315)Gga>Aga		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						182.0	169.0	174.0					4																	158224787		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158224787G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.313G>A	4.37:g.158224787G>A	ENSP00000264426:p.Gly105Arg					GRIA2_ENST00000507898.1_Missense_Mutation_p.G58R|GRIA2_ENST00000449365.1_Missense_Mutation_p.G58R|GRIA2_ENST00000264426.9_Missense_Mutation_p.G105R|GRIA2_ENST00000393815.2_Missense_Mutation_p.G58R|GRIA2_ENST00000504801.1_3'UTR	p.G105R	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	3	638	+	all_hematologic(180;0.24)	Renal(120;0.0458)	105					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.313G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238361	0.95240	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000505888;ENST00000449365	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.049698	0.85682	D	0.000000	D	0.90079	0.6901	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.928;0.91	D	0.90085	0.4173	10	0.72032	D	0.01	.	20.0536	0.97638	0.0:0.0:1.0:0.0	.	105;105;58	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	R	58;58;105;105;105;58;58	ENSP00000426845:G58R;ENSP00000377403:G58R;ENSP00000425217:G105R;ENSP00000296526:G105R;ENSP00000264426:G105R;ENSP00000422038:G58R;ENSP00000389837:G58R	ENSP00000264426:G105R	G	+	1	0	GRIA2	158444237	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.823000	0.99369	2.737000	0.93849	0.650000	0.86243	GGA		0.438	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			11	61	0	0	0	1	0	11	61				
CNTNAP5	129684	broad.mit.edu	37	2	125281979	125281979	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:125281979C>T	ENST00000431078.1	+	9	1788	c.1424C>T	c.(1423-1425)cCa>cTa	p.P475L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	475	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCCGGCTCCAGACAGCACT	0.483																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1423-1425)cCa>cTa		contactin associated protein-like 5							52.0	55.0	54.0					2																	125281979		1965	4179	6144	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125281979C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1424C>T	2.37:g.125281979C>T	ENSP00000399013:p.Pro475Leu						p.P475L	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1788	+			475			Laminin G-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1424C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.087090	0.07097	.	.	ENSG00000155052	ENST00000431078	T	0.79454	-1.27	5.95	3.56	0.40772	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.427525	0.19599	N	0.110429	T	0.60064	0.2240	N	0.14661	0.345	0.44736	D	0.997734	B	0.02656	0.0	B	0.06405	0.002	T	0.46373	-0.9196	10	0.19590	T	0.45	.	11.5386	0.50653	0.6514:0.3486:0.0:0.0	.	475	Q8WYK1	CNTP5_HUMAN	L	475	ENSP00000399013:P475L	ENSP00000399013:P475L	P	+	2	0	CNTNAP5	124998449	0.518000	0.26234	0.928000	0.36995	0.010000	0.07245	1.475000	0.35409	0.478000	0.27488	-0.274000	0.10170	CCA		0.483	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	27	0	0	0	1	0	6	27				
TIGD3	220359	broad.mit.edu	37	11	65124205	65124205	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:65124205G>A	ENST00000309880.5	+	2	1133	c.926G>A	c.(925-927)cGa>cAa	p.R309Q		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	309	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCCCATTACCGACACCGGCTG	0.667																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(925-927)cGa>cAa		tigger transposable element derived 3							20.0	25.0	23.0					11																	65124205		2193	4284	6477	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124205G>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.926G>A	11.37:g.65124205G>A	ENSP00000308354:p.Arg309Gln						p.R309Q	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	1133	+			309			DDE.			Missense_Mutation	SNP	ENST00000309880.5	37	c.926G>A	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681108	0.47886	.	.	ENSG00000173825	ENST00000309880	T	0.61859	0.07	3.42	3.42	0.39159	.	.	.	.	.	T	0.73923	0.3649	M	0.78049	2.395	0.28298	N	0.923241	D	0.71674	0.998	D	0.76575	0.988	T	0.65212	-0.6223	9	0.72032	D	0.01	-11.5677	10.6142	0.45441	0.0:0.0:1.0:0.0	.	309	Q6B0B8	TIGD3_HUMAN	Q	309	ENSP00000308354:R309Q	ENSP00000308354:R309Q	R	+	2	0	TIGD3	64880781	0.923000	0.31300	0.928000	0.36995	0.322000	0.28314	2.283000	0.43470	1.955000	0.56771	0.456000	0.33151	CGA		0.667	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		8	23	0	0	0	1	0	8	23				
TCERG1	10915	broad.mit.edu	37	5	145890149	145890149	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr5:145890149C>G	ENST00000296702.5	+	22	3279	c.3241C>G	c.(3241-3243)Cgg>Ggg	p.R1081G	TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1081					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGATCGCCGGGGTCCACC	0.463																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(3241-3243)Cgg>Ggg		transcription elongation regulator 1							94.0	89.0	91.0					5																	145890149		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145890149C>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.3241C>G	5.37:g.145890149C>G	ENSP00000296702:p.Arg1081Gly					TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G	p.R1081G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3279	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	1081					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.3241C>G	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645777	0.47258	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.27720	1.65;1.67	6.16	3.33	0.38152	.	0.050472	0.85682	N	0.000000	T	0.52773	0.1755	M	0.73962	2.25	0.80722	D	1	D;D	0.64830	0.994;0.993	D;D	0.74023	0.976;0.982	T	0.53272	-0.8462	10	0.72032	D	0.01	-14.8187	11.6584	0.51332	0.3563:0.5291:0.1146:0.0	.	1060;1081	O14776-2;O14776	.;TCRG1_HUMAN	G	1081;1060	ENSP00000296702:R1081G;ENSP00000377943:R1060G	ENSP00000296702:R1081G	R	+	1	2	TCERG1	145870342	0.994000	0.37717	1.000000	0.80357	0.953000	0.61014	1.887000	0.39698	0.419000	0.25927	-0.188000	0.12872	CGG		0.463	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		6	30	0	0	0	1	0	6	30				
NUP214	8021	broad.mit.edu	37	9	134077101	134077101	+	Silent	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr9:134077101C>T	ENST00000359428.5	+	30	5733	c.5589C>T	c.(5587-5589)ggC>ggT	p.G1863G	NUP214_ENST00000411637.2_Silent_p.G1853G|NUP214_ENST00000483497.2_Silent_p.G689G|NUP214_ENST00000451030.1_Silent_p.G1864G			P35658	NU214_HUMAN	nucleoporin 214kDa	1863	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAGTCTTTGGCCAGGTAAATA	0.358			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(5587-5589)ggC>ggT		nucleoporin 214kDa							182.0	160.0	168.0					9																	134077101		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134077101C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5589C>T	9.37:g.134077101C>T						NUP214_ENST00000483497.2_Silent_p.G689G|NUP214_ENST00000451030.1_Silent_p.G1864G|NUP214_ENST00000411637.2_Silent_p.G1853G	p.G1863G			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	30	5733	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1863			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.5589C>T	CCDS6940.1																																																																																				0.358	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		5	74	0	0	0	1	0	5	74				
CSRNP1	64651	broad.mit.edu	37	3	39186547	39186547	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr3:39186547G>A	ENST00000273153.5	-	3	583	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R136W	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	136					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TTCTCGTGCCGTGCACGGGCT	0.612																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(406-408)Cgg>Tgg		cysteine-serine-rich nuclear protein 1							69.0	58.0	62.0					3																	39186547		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39186547G>A	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.406C>T	3.37:g.39186547G>A	ENSP00000273153:p.Arg136Trp					CSRNP1_ENST00000514182.1_Missense_Mutation_p.R136W	p.R136W	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			3	583	-			136					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.406C>T	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303394	0.81136	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15603	2.41;2.41	5.14	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.67231	0.95	T	0.52208	-0.8606	10	0.87932	D	0	-24.0135	15.9105	0.79470	0.0:0.1358:0.8642:0.0	.	136	Q96S65	CSRN1_HUMAN	W	136	ENSP00000273153:R136W;ENSP00000422532:R136W	ENSP00000273153:R136W	R	-	1	2	CSRNP1	39161551	1.000000	0.71417	0.578000	0.28575	0.764000	0.43329	7.828000	0.86729	1.281000	0.44480	0.561000	0.74099	CGG		0.612	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		13	20	0	0	0	1	0	13	20				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	39	0	0	0	1	0	3	39				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	31	0	0	0	1	0	4	31				
MNT	4335	broad.mit.edu	37	17	2298503	2298503	+	Silent	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr17:2298503A>G	ENST00000174618.4	-	2	724	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L	MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	107					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GCCGCgggcaagggtgggggt	0.711																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(319-321)Ttg>Ctg		MAX network transcriptional repressor							4.0	5.0	5.0					17																	2298503		2011	3966	5977	SO:0001819	synonymous_variant	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2298503A>G	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.319T>C	17.37:g.2298503A>G							p.L107L	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	2	724	-			107					A8K6D1|D3DTI7|Q1ED38	Silent	SNP	ENST00000174618.4	37	c.319T>C	CCDS11018.1																																																																																				0.711	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		2	2	0	0	0	1	0	2	2				
SLC16A7	9194	broad.mit.edu	37	12	60173227	60173227	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:60173227G>A	ENST00000261187.4	+	5	1368	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K|SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	402					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.E402*(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTTAACTGGAGAATATAAATA	0.343																																						ENST00000261187.4																			1	Substitution - Nonsense(1)	p.E402*(1)	large_intestine(1)	endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(1204-1206)Gaa>Aaa		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						63.0	62.0	62.0					12																	60173227		2203	4299	6502	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60173227G>A	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1204G>A	12.37:g.60173227G>A	ENSP00000261187:p.Glu402Lys					SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K	p.E402K	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1368	+			402					Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.1204G>A	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	6.642	0.486870	0.12641	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.26	-1.49	0.08718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.887802	0.10229	N	0.699879	T	0.21145	0.0509	N	0.12746	0.255	0.22001	N	0.999428	B	0.09022	0.002	B	0.08055	0.003	T	0.25537	-1.0129	9	.	.	.	.	8.5263	0.33307	0.1956:0.3532:0.4512:0.0	.	402	O60669	MOT2_HUMAN	K	402;402;402;402;402;303	ENSP00000449547:E402K;ENSP00000448071:E402K;ENSP00000448742:E402K;ENSP00000446722:E402K;ENSP00000261187:E402K;ENSP00000443731:E303K	.	E	+	1	0	SLC16A7	58459494	1.000000	0.71417	0.000000	0.03702	0.061000	0.15899	1.580000	0.36547	-0.546000	0.06216	0.591000	0.81541	GAA		0.343	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		13	30	0	0	0	1	0	13	30				
GIGYF2	26058	broad.mit.edu	37	2	233677165	233677165	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:233677165A>G	ENST00000409547.1	+	20	2382	c.2071A>G	c.(2071-2073)Atc>Gtc	p.I691V	GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.I713V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	691	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TACTGGCTCTATCTGGGAGCT	0.383																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2137-2139)Atc>Gtc		GRB10 interacting GYF protein 2							73.0	71.0	72.0					2																	233677165		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233677165A>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2071A>G	2.37:g.233677165A>G	ENSP00000386537:p.Ile691Val					GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I691V	p.I713V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	19	2334	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	691			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.2137A>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901139	0.33535	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.74421	-0.61;-0.58;-0.61;-0.58;-0.79;-0.58;-0.62;-0.84;-0.49	5.28	5.28	0.74379	.	0.126685	0.53938	D	0.000058	T	0.58278	0.2111	N	0.21583	0.68	0.38409	D	0.945874	P;B;B;P	0.35107	0.484;0.179;0.075;0.456	B;B;B;B	0.34452	0.183;0.044;0.028;0.134	T	0.59037	-0.7529	10	0.16896	T	0.51	-9.6479	11.2481	0.49008	0.847:0.1529:0.0:0.0	.	522;712;691;685	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	713;634;691;713;691;691;634;685;712;685;522	ENSP00000362667:I713V;ENSP00000362664:I691V;ENSP00000386765:I713V;ENSP00000386537:I691V;ENSP00000404195:I634V;ENSP00000387070:I685V;ENSP00000387170:I712V;ENSP00000410297:I685V;ENSP00000411505:I522V	ENSP00000362664:I691V	I	+	1	0	GIGYF2	233385409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.387000	0.59626	1.998000	0.58463	0.533000	0.62120	ATC		0.383	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		5	26	0	0	0	1	0	5	26				
SOX1	6656	broad.mit.edu	37	13	112722311	112722311	+	Silent	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr13:112722311G>A	ENST00000330949.1	+	1	399	c.339G>A	c.(337-339)aaG>aaA	p.K113K		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	113					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGCACATGAAGGAGCACCCGG	0.677																																						ENST00000330949.1																			0				lung(4)	4						c.(337-339)aaG>aaA		SRY (sex determining region Y)-box 1							38.0	42.0	40.0					13																	112722311		2203	4300	6503	SO:0001819	synonymous_variant	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722311G>A		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.339G>A	13.37:g.112722311G>A							p.K113K	NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	399	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	113					Q5W0Q1	Silent	SNP	ENST00000330949.1	37	c.339G>A	CCDS9523.1																																																																																				0.677	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		5	26	0	0	0	1	0	5	26				
PIWIL2	55124	broad.mit.edu	37	8	22137065	22137065	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr8:22137065G>A	ENST00000454009.2	+	2	675	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PIWIL2_ENST00000356766.6_Missense_Mutation_p.E56K|PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	56					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AAAGCCAGAGGAACCAAGCAC	0.562																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(166-168)Gaa>Aaa		piwi-like RNA-mediated gene silencing 2							87.0	89.0	88.0					8																	22137065		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22137065G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.166G>A	8.37:g.22137065G>A	ENSP00000406956:p.Glu56Lys					PIWIL2_ENST00000454009.2_Missense_Mutation_p.E56K|PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K	p.E56K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	2	314	+			56					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.166G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	8.353	0.831388	0.16820	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04758	3.57;3.56;3.57	5.93	4.13	0.48395	.	0.528567	0.18835	N	0.129843	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.16722	0.016;0.016	T	0.36529	-0.9744	10	0.54805	T	0.06	-27.6997	8.152	0.31145	0.0835:0.1585:0.758:0.0	.	56;56	E7ECA4;Q8TC59	.;PIWL2_HUMAN	K	56	ENSP00000349208:E56K;ENSP00000428267:E56K;ENSP00000406956:E56K	ENSP00000349208:E56K	E	+	1	0	PIWIL2	22193010	0.966000	0.33281	0.023000	0.16930	0.602000	0.36980	2.969000	0.49232	0.820000	0.34516	0.655000	0.94253	GAA		0.562	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			11	21	0	0	0	1	0	11	21				
UBXN4	23190	broad.mit.edu	37	2	136527363	136527363	+	Silent	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:136527363G>A	ENST00000272638.9	+	7	938	c.627G>A	c.(625-627)agG>agA	p.R209R	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	209					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTGAAGAAAGGAGAGAAGAGA	0.303																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(625-627)agG>agA		UBX domain protein 4							156.0	158.0	157.0					2																	136527363		1837	4082	5919	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136527363G>A	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.627G>A	2.37:g.136527363G>A						UBXN4_ENST00000490163.1_3'UTR	p.R209R	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			7	938	+			209					A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.627G>A	CCDS42761.1																																																																																				0.303	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		6	32	0	0	0	1	0	6	32				
USP42	84132	broad.mit.edu	37	7	6187373	6187373	+	Silent	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:6187373C>T	ENST00000306177.5	+	12	1394	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	412	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTTCCAGGTCCCATGATGTGA	0.517																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1234-1236)tcC>tcT		ubiquitin specific peptidase 42							78.0	79.0	79.0					7																	6187373		1965	4130	6095	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6187373C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1236C>T	7.37:g.6187373C>T							p.S412S	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	12	1394	+		Ovarian(82;0.0423)	412					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.1236C>T	CCDS47535.1																																																																																				0.517	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		6	26	0	0	0	1	0	6	26				
PRSS48	345062	broad.mit.edu	37	4	152212552	152212552	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:152212552T>G	ENST00000455694.2	+	5	936	c.934T>G	c.(934-936)Tgc>Ggc	p.C312G	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	312						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						AGCTGTTGCTTGCATACAGGG	0.498																																						ENST00000455694.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(934-936)Tgc>Ggc		protease, serine, 48							97.0	84.0	88.0					4																	152212552		1956	4161	6117	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152212552T>G	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.934T>G	4.37:g.152212552T>G	ENSP00000401328:p.Cys312Gly					PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G|SH3D19_ENST00000604030.1_Intron	p.C312G	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			5	936	+			312					Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.934T>G	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	T	5.945	0.358374	0.11239	.	.	ENSG00000189099	ENST00000455694;ENST00000441586	D;D	0.91521	-2.31;-2.86	3.19	-0.307	0.12777	.	.	.	.	.	T	0.77805	0.4185	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62320	-0.6879	9	0.30078	T	0.28	.	3.1976	0.06639	0.0:0.4566:0.2523:0.2911	.	169;312	Q7RTY5-3;Q7RTY5	.;PRS48_HUMAN	G	312;169	ENSP00000401328:C312G;ENSP00000401420:C169G	ENSP00000401420:C169G	C	+	1	0	PRSS48	152432002	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.201000	0.09464	-0.053000	0.13289	0.260000	0.18958	TGC		0.498	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		13	23	0	0	0	1	0	13	23				
PIH1D1	55011	broad.mit.edu	37	19	49949662	49949662	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:49949662G>A	ENST00000262265.5	-	9	1085	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	PIH1D1_ENST00000596049.1_Missense_Mutation_p.P284S|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	284					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGCAGAAGCGGCATGGCCACC	0.522																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(850-852)Ccg>Tcg		PIH1 domain containing 1							60.0	58.0	59.0					19																	49949662		2203	4300	6503	SO:0001583	missense	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49949662G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.850C>T	19.37:g.49949662G>A	ENSP00000262265:p.Pro284Ser					PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.P284S	p.P284S	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	9	1085	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	284					B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	c.850C>T	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960942	0.53400	.	.	ENSG00000104872	ENST00000262265	T	0.22336	1.96	3.32	3.32	0.38043	.	0.000000	0.64402	D	0.000001	T	0.42108	0.1188	M	0.72894	2.215	0.43913	D	0.996559	D	0.89917	1.0	D	0.87578	0.998	T	0.37174	-0.9717	10	0.87932	D	0	-15.3748	10.4412	0.44466	0.0:0.0:1.0:0.0	.	284	Q9NWS0	PIHD1_HUMAN	S	284	ENSP00000262265:P284S	ENSP00000262265:P284S	P	-	1	0	PIH1D1	54641474	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	4.063000	0.57499	2.168000	0.68352	0.655000	0.94253	CCG		0.522	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		3	32	0	0	0	1	0	3	32				
CIITA	4261	broad.mit.edu	37	16	11000408	11000408	+	Silent	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr16:11000408C>T	ENST00000324288.8	+	11	1192	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	353					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GTGCCGAGCCCGCAGGCCCGG	0.662			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1057-1059)ccC>ccT		class II, major histocompatibility complex, transactivator							34.0	34.0	34.0					16																	11000408		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11000408C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1059C>T	16.37:g.11000408C>T						CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	p.P353P	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	1192	+			353					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.1059C>T	CCDS10544.1																																																																																				0.662	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		14	16	0	0	0	1	0	14	16				
RGS9BP	388531	broad.mit.edu	37	19	33167292	33167292	+	Silent	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:33167292A>G	ENST00000334176.3	+	1	980	c.123A>G	c.(121-123)caA>caG	p.Q41Q	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	41					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					AGGAGCTGCAAAAGACGCGCC	0.706																																						ENST00000334176.3																			0				central_nervous_system(1)|lung(2)	3						c.(121-123)caA>caG		regulator of G protein signaling 9 binding protein							19.0	17.0	17.0					19																	33167292		2163	4246	6409	SO:0001819	synonymous_variant	388531				negative regulation of signal transduction	integral to membrane		g.chr19:33167292A>G	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.123A>G	19.37:g.33167292A>G							p.Q41Q	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN			1	980	+	Esophageal squamous(110;0.137)		41					Q6ZVJ6	Silent	SNP	ENST00000334176.3	37	c.123A>G	CCDS12424.1																																																																																				0.706	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		7	13	0	0	0	1	0	7	13				
GRIK3	2899	broad.mit.edu	37	1	37346388	37346388	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr1:37346388T>G	ENST00000373091.3	-	3	413	c.397A>C	c.(397-399)Atc>Ctc	p.I133L	GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	133					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGCAGCTGGATGTGGGGCACC	0.622																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(397-399)Atc>Ctc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						208.0	183.0	191.0					1																	37346388		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346388T>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.397A>C	1.37:g.37346388T>G	ENSP00000362183:p.Ile133Leu					GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L	p.I133L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			3	413	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	133					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.397A>C	CCDS416.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259284	0.39995	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.86562	-2.14;-2.14	4.77	4.77	0.60923	Extracellular ligand-binding receptor (1);	0.272270	0.36167	N	0.002750	T	0.81178	0.4768	L	0.31294	0.92	0.45995	D	0.998809	B;B	0.02656	0.0;0.0	B;B	0.24155	0.051;0.051	T	0.76116	-0.3077	10	0.30854	T	0.27	.	14.5839	0.68310	0.0:0.0:0.0:1.0	.	133;133	A9Z1Z8;Q13003	.;GRIK3_HUMAN	L	133	ENSP00000362183:I133L;ENSP00000362185:I133L	ENSP00000362183:I133L	I	-	1	0	GRIK3	37118975	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.521000	0.45563	1.919000	0.55581	0.459000	0.35465	ATC		0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		20	38	0	0	0	1	0	20	38				
BPIFB4	149954	broad.mit.edu	37	20	31680313	31680313	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr20:31680313G>T	ENST00000375483.3	+	9	1193	c.1193G>T	c.(1192-1194)tGg>tTg	p.W398L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	398						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCATTGGGGTGGCCAGCTGTG	0.597																																						ENST00000375483.3																			0											c.(1192-1194)tGg>tTg		BPI fold containing family B, member 4							60.0	54.0	56.0					20																	31680313		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31680313G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1193G>T	20.37:g.31680313G>T	ENSP00000364632:p.Trp398Leu						p.W398L	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			9	1193	+			398					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1193G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	5.767	0.325964	0.10900	.	.	ENSG00000186191	ENST00000375483	T	0.06449	3.3	5.35	5.35	0.76521	.	0.547984	0.18507	N	0.139164	T	0.04182	0.0116	N	0.08118	0	0.25229	N	0.989843	B	0.17465	0.022	B	0.16722	0.016	T	0.42481	-0.9449	9	.	.	.	-7.3379	14.9864	0.71351	0.0:0.0:1.0:0.0	.	398	P59827	BPIB4_HUMAN	L	398	ENSP00000364632:W398L	.	W	+	2	0	BPIFB4	31143974	0.687000	0.27671	1.000000	0.80357	0.050000	0.14768	2.029000	0.41098	2.676000	0.91093	0.543000	0.68304	TGG		0.597	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		9	17	1	0	3.09899e-07	1	3.27777e-07	9	17				
NRD1	4898	broad.mit.edu	37	1	52280418	52280418	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr1:52280418C>T	ENST00000354831.7	-	14	1900	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	NRD1_ENST00000352171.7_Missense_Mutation_p.V503M|NRD1_ENST00000544028.1_Missense_Mutation_p.V371M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.V439M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	502					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATGCTGAACACTGAATAAGTA	0.353																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1711-1713)Gtg>Atg		nardilysin (N-arginine dibasic convertase)							58.0	55.0	56.0					1																	52280418		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52280418C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1711G>A	1.37:g.52280418C>T	ENSP00000346890:p.Val571Met					NRD1_ENST00000544028.1_Missense_Mutation_p.V371M|NRD1_ENST00000539524.1_Missense_Mutation_p.V439M|NRD1_ENST00000352171.7_Missense_Mutation_p.V503M|NRD1_ENST00000485608.1_5'UTR	p.V571M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			14	1900	-			502					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1711G>A	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248506	0.59103	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.89	5.89	0.94794	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.105830	0.64402	D	0.000005	T	0.17831	0.0428	L	0.37697	1.125	0.44424	D	0.997347	P;P;D	0.62365	0.935;0.947;0.991	P;P;P	0.62435	0.682;0.787;0.902	T	0.00092	-1.2083	10	0.56958	D	0.05	-12.064	13.8722	0.63626	0.0:0.9219:0.0:0.0781	.	503;502;571	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	M	503;571;439;503;371	ENSP00000262679:V503M;ENSP00000346890:V571M;ENSP00000444416:V439M;ENSP00000442262:V371M	ENSP00000262679:V503M	V	-	1	0	NRD1	52053006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.719000	0.54926	2.783000	0.95769	0.655000	0.94253	GTG		0.353	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		12	18	0	0	0	1	0	12	18				
PCSK2	5126	broad.mit.edu	37	20	17207956	17207956	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr20:17207956G>C	ENST00000262545.2	+	1	321	c.6G>C	c.(4-6)aaG>aaC	p.K2N	PCSK2_ENST00000377899.1_Intron|PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	2					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAAGGATGAAGGGTGGTTGTG	0.532																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(4-6)aaG>aaC		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						77.0	82.0	80.0					20																	17207956		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17207956G>C	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.6G>C	20.37:g.17207956G>C	ENSP00000262545:p.Lys2Asn					PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N|PCSK2_ENST00000377899.1_Intron	p.K2N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			1	321	+			2					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.6G>C	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067639	0.36470	.	.	ENSG00000125851	ENST00000262545;ENST00000536609	T;T	0.73152	-0.45;-0.72	5.4	4.41	0.53225	.	1.022020	0.07850	U	0.964429	T	0.50154	0.1599	N	0.08118	0	0.23661	N	0.997176	B;B	0.27498	0.032;0.18	B;B	0.24974	0.018;0.057	T	0.41698	-0.9494	10	0.40728	T	0.16	-9.7843	6.2245	0.20700	0.1823:0.0:0.8177:0.0	.	2;2	B4DFQ3;P16519	.;NEC2_HUMAN	N	2	ENSP00000262545:K2N;ENSP00000437458:K2N	ENSP00000262545:K2N	K	+	3	2	PCSK2	17155956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.125000	0.50469	1.127000	0.42034	0.655000	0.94253	AAG		0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		9	38	0	0	0	1	0	9	38				
SLC8A1	6546	broad.mit.edu	37	2	40657386	40657386	+	Missense_Mutation	SNP	G	G	C	rs142661656	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:40657386G>C	ENST00000403092.1	-	2	68	c.35C>G	c.(34-36)aCc>aGc	p.T12S	SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000406785.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	12					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATTGAAAAGGTGGGTGAAAG	0.408																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(34-36)aCc>aGc		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						81.0	77.0	79.0					2																	40657386		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657386G>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.35C>G	2.37:g.40657386G>C	ENSP00000384763:p.Thr12Ser					SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S	p.T12S			P32418	NAC1_HUMAN			2	224	-			12					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.35C>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	1.103	-0.660617	0.03454	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.26810	1.73;1.75;1.76;1.75;1.73;1.73;1.76;1.71;1.73;1.72	6.04	1.14	0.20703	.	1.003290	0.08019	N	0.991647	T	0.11836	0.0288	N	0.05078	-0.115	0.09310	N	1	B;B;B;B;B	0.11235	0.002;0.004;0.002;0.004;0.002	B;B;B;B;B	0.18561	0.006;0.009;0.006;0.022;0.01	T	0.36553	-0.9743	10	0.27082	T	0.32	.	5.2716	0.15628	0.1947:0.0:0.5455:0.2598	.	12;12;12;12;12	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	S	12	ENSP00000383886:T12S;ENSP00000440727:T12S;ENSP00000384763:T12S;ENSP00000385678:T12S;ENSP00000385188:T12S;ENSP00000385535:T12S;ENSP00000332931:T12S;ENSP00000384908:T12S;ENSP00000385811:T12S;ENSP00000443515:T12S	ENSP00000332931:T12S	T	-	2	0	SLC8A1	40510890	0.186000	0.23225	0.013000	0.15412	0.732000	0.41865	1.034000	0.30204	-0.064000	0.13043	-0.217000	0.12591	ACC		0.408	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		9	30	0	0	0	1	0	9	30				
FCGBP	8857	broad.mit.edu	37	19	40354448	40354448	+	Missense_Mutation	SNP	G	G	A	rs145000879	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:40354448G>A	ENST00000221347.6	-	35	16028	c.16021C>T	c.(16021-16023)Cgc>Tgc	p.R5341C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5341	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTTCTGGCGGACTAGCAGG	0.582																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(16021-16023)Cgc>Tgc		Fc fragment of IgG binding protein		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	55.0	45.0	48.0		16021	-2.7	0.0	19	dbSNP_134	48	0,8600		0,0,4300	yes	missense	FCGBP	NM_003890.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	5341/5406	40354448	2,13004	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40354448G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.16021C>T	19.37:g.40354448G>A	ENSP00000221347:p.Arg5341Cys						p.R5341C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		35	16028	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5341			VWFD 13.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.16021C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303832	0.60305	4.54E-4	0.0	ENSG00000090920	ENST00000221347	T	0.60171	0.21	5.88	-2.67	0.06059	von Willebrand factor, type D domain (3);	1.135460	0.06863	U	0.799503	T	0.62441	0.2428	L	0.43152	1.355	0.09310	N	1	D	0.71674	0.998	D	0.67725	0.953	T	0.56420	-0.7982	10	0.56958	D	0.05	.	6.0813	0.19942	0.0676:0.1127:0.2442:0.5755	.	5341	Q9Y6R7	FCGBP_HUMAN	C	5341	ENSP00000221347:R5341C	ENSP00000221347:R5341C	R	-	1	0	FCGBP	45046288	0.000000	0.05858	0.017000	0.16124	0.900000	0.52787	-0.074000	0.11450	-0.177000	0.10690	0.591000	0.81541	CGC		0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		11	10	0	0	0	1	0	11	10				
FGB	2244	broad.mit.edu	37	4	155490677	155490677	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:155490677C>A	ENST00000302068.4	+	7	1033	c.970C>A	c.(970-972)Ctt>Att	p.L324I	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.L105I	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	324	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGAATATTGGCTTGGAAATGA	0.358																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(970-972)Ctt>Att		fibrinogen beta chain	Sucralfate(DB00364)						56.0	59.0	58.0					4																	155490677		2197	4298	6495	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490677C>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.970C>A	4.37:g.155490677C>A	ENSP00000306099:p.Leu324Ile					FGB_ENST00000509493.1_Missense_Mutation_p.L105I|FGB_ENST00000502545.1_Intron	p.L324I	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1033	+	all_hematologic(180;0.215)	Renal(120;0.0458)	324			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.970C>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922392	0.92319	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.88664	-2.41;-2.41	5.53	5.53	0.82687	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.94135	0.8119	M	0.67517	2.055	0.80722	D	1	D;D	0.71674	0.998;0.971	D;D	0.91635	0.999;0.984	D	0.94180	0.7431	10	0.87932	D	0	.	19.8195	0.96586	0.0:1.0:0.0:0.0	.	307;324	B4E1D3;P02675	.;FIBB_HUMAN	I	324;307;105	ENSP00000306099:L324I;ENSP00000426757:L105I	ENSP00000306099:L324I	L	+	1	0	FGB	155710127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.756000	0.94617	0.655000	0.94253	CTT		0.358	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		9	50	1	0	2.17888e-05	1	2.21923e-05	9	50				
ISOC2	79763	broad.mit.edu	37	19	55967760	55967760	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:55967760C>T	ENST00000425675.2	-	2	154	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	ISOC2_ENST00000085068.3_Missense_Mutation_p.A32T|ISOC2_ENST00000438389.2_Missense_Mutation_p.A32T			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	32					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GGGAAGTAGGCGATGTTGTGG	0.622																																						ENST00000438389.2																			0				endometrium(1)|lung(4)|ovary(1)|stomach(1)	7						c.(94-96)Gcc>Acc		isochorismatase domain containing 2							178.0	147.0	157.0					19																	55967760		2203	4300	6503	SO:0001583	missense	79763				protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding	g.chr19:55967760C>T	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.94G>A	19.37:g.55967760C>T	ENSP00000401726:p.Ala32Thr					ISOC2_ENST00000085068.3_Missense_Mutation_p.A32T|ISOC2_ENST00000425675.2_Missense_Mutation_p.A32T	p.A32T	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)	2	928	-	Breast(117;0.155)		0					Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	37	c.94G>A	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	C	6.551	0.470017	0.12461	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.24	-5.6	0.02497	Isochorismatase-like (3);	0.632453	0.14718	N	0.302509	T	0.16342	0.0393	L	0.33624	1.015	0.09310	N	1	B;B;B	0.21905	0.014;0.062;0.052	B;B;B	0.16722	0.004;0.012;0.016	T	0.17319	-1.0373	9	0.22706	T	0.39	-13.3978	1.3169	0.02109	0.2307:0.4091:0.1197:0.2405	.	32;32;32	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	T	32	.	ENSP00000085068:A32T	A	-	1	0	ISOC2	60659572	0.029000	0.19370	0.000000	0.03702	0.649000	0.38597	-0.062000	0.11674	-0.558000	0.06118	0.484000	0.47621	GCC		0.622	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		7	42	0	0	0	1	0	7	42				
ICAM2	3384	broad.mit.edu	37	17	62081238	62081238	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr17:62081238C>T	ENST00000412356.1	-	5	769	c.415G>A	c.(415-417)Gtg>Atg	p.V139M	ICAM2_ENST00000579788.1_Missense_Mutation_p.V139M|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000418105.1_Missense_Mutation_p.V139M|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000449662.2_Missense_Mutation_p.V139M|ICAM2_ENST00000578379.1_Missense_Mutation_p.V38M|ICAM2_ENST00000578892.1_Missense_Mutation_p.V115M|ICAM2_ENST00000579687.1_Missense_Mutation_p.V139M	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	139	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						AGGGGCTCCACGGTGGGCACC	0.612																																						ENST00000412356.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(415-417)Gtg>Atg		intercellular adhesion molecule 2							56.0	53.0	54.0					17																	62081238		2203	4300	6503	SO:0001583	missense	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62081238C>T		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.415G>A	17.37:g.62081238C>T	ENSP00000415283:p.Val139Met					ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.V139M|ICAM2_ENST00000579687.1_Missense_Mutation_p.V139M|ICAM2_ENST00000578892.1_Missense_Mutation_p.V115M|ICAM2_ENST00000578379.1_Missense_Mutation_p.V38M|ICAM2_ENST00000449662.2_Missense_Mutation_p.V139M|ICAM2_ENST00000418105.1_Missense_Mutation_p.V139M|C17orf72_ENST00000412177.1_3'UTR	p.V139M	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN			5	769	-			139			Ig-like C2-type 2.		Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	c.415G>A	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680271	0.68042	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.03920	3.76;3.76;3.76	5.13	5.13	0.70059	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.154247	0.42053	D	0.000762	T	0.21103	0.0508	M	0.79926	2.475	0.21355	N	0.999719	D	0.89917	1.0	D	0.67382	0.951	T	0.02691	-1.1123	10	0.66056	D	0.02	-32.1125	14.067	0.64837	0.0:1.0:0.0:0.0	.	139	P13598	ICAM2_HUMAN	M	139	ENSP00000415283:V139M;ENSP00000388666:V139M;ENSP00000392634:V139M	ENSP00000415283:V139M	V	-	1	0	ICAM2	59434970	0.304000	0.24472	0.489000	0.27452	0.875000	0.50365	2.259000	0.43259	2.364000	0.80123	0.462000	0.41574	GTG		0.612	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			17	20	0	0	0	1	0	17	20				
IGHV1-69	28461	broad.mit.edu	37	14	107169934	107169934	+	RNA	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr14:107169934C>T	ENST00000390633.2	-	0	408									immunoglobulin heavy variable 1-69																		CTGTGTCTCTCGCACAGTAAT	0.547																																						ENST00000390633.2																			0																				313.0	253.0	273.0					14																	107169934		2087	4195	6282			0							g.chr14:107169934C>T	L22582		14q32.33	2012-02-10			ENSG00000211973	ENSG00000211973		"""Immunoglobulins / IGH locus"""	5558	other	immunoglobulin gene				IGHV1-E		8469934	Standard	NG_001019		Approved				OTTHUMG00000151862		14.37:g.107169934C>T														0	408	-									RNA	SNP	ENST00000390633.2	37																																																																																						0.547	IGHV1-69-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324207.1	NG_001019		39	255	0	0	0	1	0	39	255				
CYP2B6	1555	broad.mit.edu	37	19	41510021	41510021	+	Missense_Mutation	SNP	C	C	A	rs144760726	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:41510021C>A	ENST00000324071.4	+	2	294	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	96					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GAGGCCTTCTCTGGCCGGGGA	0.637																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(286-288)tCt>tAt		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						82.0	83.0	83.0					19																	41510021		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41510021C>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.287C>A	19.37:g.41510021C>A	ENSP00000324648:p.Ser96Tyr					CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y	p.S96Y	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	294	+			96					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.287C>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	17.83	3.485663	0.63962	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.71103	-0.54;-0.54	4.15	1.79	0.24919	.	0.525989	0.19979	N	0.101816	D	0.87378	0.6162	H	0.96015	3.755	0.23923	N	0.996458	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.78425	-0.2209	10	0.87932	D	0	.	11.2857	0.49220	0.0:0.4851:0.5149:0.0	.	56;96	B4DWP3;P20813	.;CP2B6_HUMAN	Y	96;56	ENSP00000324648:S96Y;ENSP00000330650:S56Y	ENSP00000324648:S96Y	S	+	2	0	CYP2B6	46201861	0.001000	0.12720	0.793000	0.32043	0.362000	0.29581	0.014000	0.13333	0.973000	0.38340	0.472000	0.43445	TCT		0.637	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		10	49	1	0	2.17888e-05	1	2.21923e-05	10	49				
TM7SF3	51768	broad.mit.edu	37	12	27143491	27143491	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:27143491A>G	ENST00000343028.4	-	6	985	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	254						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGACATTGTATATGACACCT	0.453																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(760-762)Tac>Cac		transmembrane 7 superfamily member 3							137.0	123.0	128.0					12																	27143491		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27143491A>G	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.760T>C	12.37:g.27143491A>G	ENSP00000342322:p.Tyr254His					TM7SF3_ENST00000542667.1_Intron	p.Y254H	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			6	985	-	Colorectal(261;0.0847)		254					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.760T>C	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354529	0.82243	.	.	ENSG00000064115	ENST00000343028;ENST00000543655;ENST00000535819	T;T;T	0.63255	0.3;-0.03;-0.03	5.0	5.0	0.66597	.	0.060871	0.64402	D	0.000002	T	0.77452	0.4132	M	0.77103	2.36	0.51767	D	0.999932	D	0.71674	0.998	D	0.65573	0.936	T	0.78560	-0.2157	10	0.41790	T	0.15	-15.5825	15.0064	0.71516	1.0:0.0:0.0:0.0	.	254	Q9NS93	TM7S3_HUMAN	H	254;45;45	ENSP00000342322:Y254H;ENSP00000441924:Y45H;ENSP00000445156:Y45H	ENSP00000342322:Y254H	Y	-	1	0	TM7SF3	27034758	1.000000	0.71417	0.988000	0.46212	0.935000	0.57460	8.369000	0.90118	2.006000	0.58801	0.477000	0.44152	TAC		0.453	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		7	52	0	0	0	1	0	7	52				
YPEL4	219539	broad.mit.edu	37	11	57413471	57413471	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:57413471C>T	ENST00000524669.1	-	5	3089	c.367G>A	c.(367-369)Gac>Aac	p.D123N	YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N|YPEL4_ENST00000531442.1_5'Flank|AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	123						nucleus (GO:0005634)				lung(2)|skin(1)	3						CAGCCGTTGTCCTTCACCATG	0.547																																						ENST00000524669.1																			0				lung(2)|skin(1)	3						c.(367-369)Gac>Aac		yippee-like 4 (Drosophila)							179.0	134.0	149.0					11																	57413471		2201	4296	6497	SO:0001583	missense	219539					nucleolus		g.chr11:57413471C>T	AK054775	CCDS7963.1	11q12	2008-02-05				ENSG00000166793			18328	protein-coding gene	gene with protein product		609725					Standard	NM_145008		Approved	FLJ30213	uc001nkv.4	Q96NS1		ENST00000524669.1:c.367G>A	11.37:g.57413471C>T	ENSP00000432648:p.Asp123Asn					AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N|YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N	p.D123N			Q96NS1	YPEL4_HUMAN			5	3089	-			123					B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	ENST00000524669.1	37	c.367G>A	CCDS7963.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509516	0.85282	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711	.	.	.	5.42	5.42	0.78866	.	0.078023	0.53938	D	0.000041	T	0.67599	0.2910	M	0.62723	1.935	0.80722	D	1	B	0.13145	0.007	B	0.24006	0.05	T	0.63225	-0.6685	9	0.38643	T	0.18	-2.2026	18.8187	0.92088	0.0:1.0:0.0:0.0	.	123	Q96NS1	YPEL4_HUMAN	N	123	.	ENSP00000300022:D123N	D	-	1	0	YPEL4	57170047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.560000	0.82277	2.544000	0.85801	0.561000	0.74099	GAC		0.547	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393370.1	NM_145008		22	33	0	0	0	1	0	22	33				
SHANK1	50944	broad.mit.edu	37	19	51219610	51219610	+	Silent	SNP	G	G	A	rs377430056		TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:51219610G>A	ENST00000293441.1	-	2	399	c.381C>T	c.(379-381)cgC>cgT	p.R127R	SHANK1_ENST00000391814.1_Silent_p.R127R|SHANK1_ENST00000359082.3_Silent_p.R127R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	127					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTTGGCATCGCGGCCGGAGG	0.632																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(379-381)cgC>cgT		SH3 and multiple ankyrin repeat domains 1				0,4406		0,0,2203	48.0	52.0	51.0		381	-5.6	0.0	19		51	2,8598		0,2,4298	no	coding-synonymous	SHANK1	NM_016148.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		127/2162	51219610	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219610G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.381C>T	19.37:g.51219610G>A						SHANK1_ENST00000359082.3_Silent_p.R127R|SHANK1_ENST00000391814.1_Silent_p.R127R	p.R127R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	399	-		all_neural(266;0.057)	127					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.381C>T	CCDS12799.1																																																																																				0.632	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		14	37	0	0	0	1	0	14	37				
BOD1L1	259282	broad.mit.edu	37	4	13582680	13582681	+	Splice_Site	INS	-	-	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:13582680_13582681insA	ENST00000040738.5	-	21	8804		c.e21-2			NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1							nucleus (GO:0005634)	DNA binding (GO:0003677)										AGTCGTCTTCTAAAAAAAAAAA	0.337																																						ENST00000040738.5																			0											c.e21-2		biorientation of chromosomes in cell division 1-like 1																																				SO:0001630	splice_region_variant	259282						DNA binding	g.chr4:13582680_13582681insA	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8669-2->T	4.37:g.13582691_13582691dupA								NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			21	8804	-								Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Splice_Site	INS	ENST00000040738.5	37		CCDS3411.2																																																																																				0.337	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	Intron	2	4						2	4	---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95072931	95072931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr10:95072931delG	ENST00000359263.4	-	51	5734	c.5735delC	c.(5734-5736)cctfs	p.P1912fs	MYOF_ENST00000371501.4_Frame_Shift_Del_p.P1912fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.P1902fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1912					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATTTTGCAGGAATGATCGT	0.468																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5734-5736)ctfs		myoferlin							182.0	177.0	178.0					10																	95072931		1977	4167	6144	SO:0001589	frameshift_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95072931delG	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5735delC	10.37:g.95072931delG	ENSP00000352208:p.Pro1912fs					MYOF_ENST00000371502.4_Frame_Shift_Del_p.P1902fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.P1912fs	p.P1912fs			Q9NZM1	MYOF_HUMAN			51	5857	-			1912					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Del	DEL	ENST00000359263.4	37	c.5735delC	CCDS41551.1																																																																																				0.468	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		71	63						71	63	---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110475354	110475354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:110475354delA	ENST00000261739.4	+	15	1934	c.1768delA	c.(1768-1770)aaafs	p.K590fs	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	590						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ACTCACTGACAAATAGACCTT	0.572																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(1768-1770)aafs		ankyrin repeat domain 13A							37.0	38.0	38.0					12																	110475354		2203	4300	6503	SO:0001589	frameshift_variant	88455							g.chr12:110475354delA	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1768delA	12.37:g.110475354delA	ENSP00000261739:p.Lys590fs					C12orf76_ENST00000546651.2_Intron	p.K590fs	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			15	1934	+			590					O60736	Frame_Shift_Del	DEL	ENST00000261739.4	37	c.1768delA	CCDS9140.1																																																																																				0.572	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		11	12						11	12	---	---	---	---
