#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
TPO	7173	broad.mit.edu	37	2	1457506	1457506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:1457506C>T	ENST00000345913.4	+	6	614	c.523C>T	c.(523-525)Cga>Tga	p.R175*	TPO_ENST00000382201.3_Nonsense_Mutation_p.R175*|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Nonsense_Mutation_p.R175*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R175*|TPO_ENST00000349624.3_Nonsense_Mutation_p.R175*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R175*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R175*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	175					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCCTGGCACGATGGCTCCC	0.602																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	GRCh37	CM076569	TPO	M		c.(523-525)Cga>Tga		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						67.0	74.0	72.0					2																	1457506		2203	4300	6503	SO:0001587	stop_gained	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1457506C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.523C>T	2.37:g.1457506C>T	ENSP00000318820:p.Arg175*					TPO_ENST00000382198.1_Nonsense_Mutation_p.R175*|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Nonsense_Mutation_p.R175*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R175*|TPO_ENST00000349624.3_Nonsense_Mutation_p.R175*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R175*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R175*	p.R175*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	6	614	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	175					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Nonsense_Mutation	SNP	ENST00000345913.4	37	c.523C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677699	0.29783	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.	.	.	5.27	-2.09	0.07232	.	0.100474	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1988	18.6177	0.91308	0.3252:0.6747:0.0:0.0	.	.	.	.	X	175;175;175;175;175;175;175;104	.	ENSP00000329869:R175X	R	+	1	2	TPO	1436513	0.105000	0.21958	0.017000	0.16124	0.203000	0.24098	0.390000	0.20768	-0.295000	0.08960	0.557000	0.71058	CGA		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		31	40	0	0	0	1	0	31	40				
APOB	338	broad.mit.edu	37	2	21245884	21245884	+	Missense_Mutation	SNP	C	C	T	rs564030306		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:21245884C>T	ENST00000233242.1	-	18	2762	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	879					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCACAGACACGGAGGGTTTT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20919	0.0		0.0	False		,,,				2504	0.001					ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2635-2637)Gtg>Atg		apolipoprotein B	Atorvastatin(DB01076)						103.0	105.0	105.0					2																	21245884		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245884C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2635G>A	2.37:g.21245884C>T	ENSP00000233242:p.Val879Met						p.V879M	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			18	2762	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		879					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2635G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981602	0.74474	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.21932	1.98	5.51	4.64	0.57946	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.108661	0.40302	N	0.001133	T	0.34279	0.0892	M	0.78916	2.43	0.80722	D	1	D	0.63880	0.993	P	0.49922	0.626	T	0.20371	-1.0277	10	0.49607	T	0.09	.	11.6947	0.51536	0.0:0.8573:0.0:0.1427	.	879	P04114	APOB_HUMAN	M	879	ENSP00000233242:V879M	ENSP00000233242:V879M	V	-	1	0	APOB	21099389	0.755000	0.28372	1.000000	0.80357	0.926000	0.56050	1.475000	0.35409	1.483000	0.48342	0.655000	0.94253	GTG		0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			25	43	0	0	0	1	0	25	43				
GMPPA	29926	broad.mit.edu	37	2	220370460	220370460	+	Missense_Mutation	SNP	G	G	A	rs151043830		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:220370460G>A	ENST00000358215.3	+	10	1246	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	GMPPA_ENST00000313597.5_Missense_Mutation_p.A293T|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.A293T|GMPPA_ENST00000373917.3_Missense_Mutation_p.A346T|GMPPA_ENST00000341142.3_Missense_Mutation_p.A293T	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	293					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCACCCGACCGCCAAGGTGGC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.001		0.0	False		,,,				2504	0.0					ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(877-879)Gcc>Acc		GDP-mannose pyrophosphorylase A		G	THR/ALA,THR/ALA	0,4406		0,0,2203	52.0	58.0	56.0		877,877	4.6	0.6	2	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	GMPPA	NM_013335.3,NM_205847.2	58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	293/421,293/421	220370460	2,13004	2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220370460G>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.877G>A	2.37:g.220370460G>A	ENSP00000350949:p.Ala293Thr					AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.A293T|GMPPA_ENST00000373908.1_Missense_Mutation_p.A293T|GMPPA_ENST00000373917.3_Missense_Mutation_p.A346T|GMPPA_ENST00000313597.5_Missense_Mutation_p.A293T	p.A293T	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	10	1246	+		Renal(207;0.0183)	293					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.877G>A	CCDS2441.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	22.7	4.318948	0.81469	0.0	2.33E-4	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.91626	0.7354	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94409	0.7630	10	0.87932	D	0	2.2368	17.1149	0.86686	0.0:0.0:1.0:0.0	.	346;293	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	T	293;346;293;293;293	ENSP00000315925:A293T;ENSP00000363027:A346T;ENSP00000350949:A293T;ENSP00000363016:A293T;ENSP00000340760:A293T	ENSP00000315925:A293T	A	+	1	0	GMPPA	220078704	1.000000	0.71417	0.585000	0.28666	0.653000	0.38743	6.078000	0.71282	2.113000	0.64589	0.457000	0.33378	GCC		0.607	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		18	27	0	0	0	1	0	18	27				
LINC01410	103352539	broad.mit.edu	37	9	66457535	66457535	+	lincRNA	SNP	T	T	C	rs74360065		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr9:66457535T>C	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							TGTTTGCTTCTTTCTGTCTCC	0.562																																						ENST00000424345.1																			0																																																			0							g.chr9:66457535T>C																													9.37:g.66457535T>C														0	67	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.562	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			3	7	0	0	0	1	0	3	7				
ACSF3	197322	broad.mit.edu	37	16	89167646	89167646	+	Missense_Mutation	SNP	C	C	T	rs376098216	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89167646C>T	ENST00000317447.4	+	3	934	c.557C>T	c.(556-558)cCg>cTg	p.P186L	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.P186L	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	186					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCAGAGGTCCCGGTCCCAGAG	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		11118	0.0		0.0	False		,,,				2504	0.002					ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(556-558)cCg>cTg		acyl-CoA synthetase family member 3							15.0	12.0	13.0					16																	89167646		2194	4296	6490	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167646C>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.557C>T	16.37:g.89167646C>T	ENSP00000320646:p.Pro186Leu					ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.P186L	p.P186L	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	934	+			186					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.557C>T	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	C	4.268	0.048804	0.08243	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.39787	1.06;1.06;1.06	5.27	-10.5	0.00291	AMP-dependent synthetase/ligase (1);	3.021660	0.01069	N	0.004786	T	0.16214	0.0390	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11060	-1.0603	10	0.28530	T	0.3	-1.7398	3.3577	0.07174	0.1243:0.404:0.2467:0.2249	.	186	Q4G176	ACSF3_HUMAN	L	186	ENSP00000320646:P186L;ENSP00000440734:P186L;ENSP00000384627:P186L	ENSP00000320646:P186L	P	+	2	0	ACSF3	87695147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.019000	0.01442	-2.277000	0.00677	-1.014000	0.02459	CCG		0.642	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		9	7	0	0	0	1	0	9	7				
LRRC37A6P	387646	broad.mit.edu	37	10	27537159	27537159	+	lincRNA	SNP	C	C	T	rs368793254		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:27537159C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GCTCAGTGCTCGTGTGCTTCT	0.493																																						ENST00000574842.1																			0																																																			0							g.chr10:27537159C>T																													10.37:g.27537159C>T						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.493	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			45	57	0	0	0	1	0	45	57				
ZNF655	79027	broad.mit.edu	37	7	99171161	99171161	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:99171161C>T	ENST00000394163.2	+	3	1613	c.1430C>T	c.(1429-1431)gCa>gTa	p.A477V	ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.A512V|ZNF655_ENST00000252713.4_Missense_Mutation_p.A477V|ZNF655_ENST00000424881.1_Missense_Mutation_p.A512V|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000425063.1_3'UTR	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	477					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGTCAGAGAGCACATCTAGTT	0.393																																						ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(1534-1536)gCa>gTa		zinc finger protein 655							99.0	99.0	99.0					7																	99171161		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99171161C>T	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.1430C>T	7.37:g.99171161C>T	ENSP00000377718:p.Ala477Val					ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.A477V|ZNF655_ENST00000252713.4_Missense_Mutation_p.A477V|ZNF655_ENST00000493277.1_Missense_Mutation_p.A512V	p.A512V	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	1755	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		477					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.1535C>T	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	6.690	0.496013	0.12762	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.178426	0.27262	N	0.020162	T	0.24005	0.0581	L	0.28400	0.85	0.19775	N	0.999959	P;P	0.38504	0.634;0.501	B;B	0.33620	0.167;0.081	T	0.22417	-1.0217	10	0.54805	T	0.06	-1.3926	16.4515	0.83993	0.0:1.0:0.0:0.0	.	512;477	Q8N720-3;Q8N720	.;ZN655_HUMAN	V	477;512;512;477	ENSP00000252713:A477V;ENSP00000419135:A512V;ENSP00000393876:A512V;ENSP00000377718:A477V	ENSP00000252713:A477V	A	+	2	0	ZNF655	99009097	0.000000	0.05858	0.942000	0.38095	0.161000	0.22273	1.071000	0.30666	2.660000	0.90430	0.655000	0.94253	GCA		0.393	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		34	50	0	0	0	1	0	34	50				
PLEKHA2	59339	broad.mit.edu	37	8	38775463	38775463	+	Missense_Mutation	SNP	C	C	T	rs569997545		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:38775463C>T	ENST00000521746.1	+	2	250	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PLEKHA2_ENST00000420274.1_Missense_Mutation_p.R6W|PLEKHA2_ENST00000388745.4_3'UTR			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	6					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TTATGTGGATCGGCAGAACCG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		21029	0.0		0.0	False		,,,				2504	0.001					ENST00000420274.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(16-18)Cgg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2							104.0	105.0	105.0					8																	38775463		2056	4210	6266	SO:0001583	missense	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38775463C>T	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.16C>T	8.37:g.38775463C>T	ENSP00000430938:p.Arg6Trp					PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Missense_Mutation_p.R6W	p.R6W	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		2	250	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	6						Missense_Mutation	SNP	ENST00000521746.1	37	c.16C>T		.	.	.	.	.	.	.	.	.	.	C	25.9	4.685881	0.88639	.	.	ENSG00000169499	ENST00000521746;ENST00000420274;ENST00000519640	T;T	0.50548	0.74;3.27	5.37	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.67646	0.2915	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72137	-0.4381	10	0.87932	D	0	.	15.063	0.71970	0.1433:0.8567:0.0:0.0	.	6	A8K727	.	W	6	ENSP00000430938:R6W;ENSP00000393860:R6W	ENSP00000393860:R6W	R	+	1	2	PLEKHA2	38894620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.823000	0.69272	1.203000	0.43233	0.632000	0.83419	CGG		0.562	PLEKHA2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000377068.1	NM_021623		24	25	0	0	0	1	0	24	25				
CALCR	799	broad.mit.edu	37	7	93065414	93065414	+	Silent	SNP	C	C	T	rs545295161		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:93065414C>T	ENST00000394441.1	-	11	1314	c.999G>A	c.(997-999)gcG>gcA	p.A333A	CALCR_ENST00000360249.4_Silent_p.A349A|CALCR_ENST00000359558.2_Silent_p.A367A|CALCR_ENST00000421592.1_Silent_p.A349A|CALCR_ENST00000426151.1_Silent_p.A333A	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	367					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TGTGGGATTCCGCCTCATGGG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		14066	0.0		0.0	False		,,,				2504	0.001					ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1099-1101)gcG>gcA		calcitonin receptor	Salmon Calcitonin(DB00017)						101.0	88.0	92.0					7																	93065414		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93065414C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.999G>A	7.37:g.93065414C>T						CALCR_ENST00000394441.1_Silent_p.A333A|CALCR_ENST00000421592.1_Silent_p.A349A|CALCR_ENST00000426151.1_Silent_p.A333A|CALCR_ENST00000360249.4_Silent_p.A349A	p.A367A	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		14	1400	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		349					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.1101G>A	CCDS5631.1																																																																																				0.478	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		12	23	0	0	0	1	0	12	23				
STK10	6793	broad.mit.edu	37	5	171509417	171509417	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:171509417G>A	ENST00000176763.5	-	12	2245	c.1902C>T	c.(1900-1902)cgC>cgT	p.R634R	AC113342.1_ENST00000579783.1_RNA	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	634					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTCCCGGCGGCGCACGGCAT	0.552																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1900-1902)cgC>cgT		serine/threonine kinase 10							109.0	104.0	106.0					5																	171509417		2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171509417G>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1902C>T	5.37:g.171509417G>A							p.R634R	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		12	2245	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	634					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.1902C>T	CCDS34290.1																																																																																				0.552	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		50	104	0	0	0	1	0	50	104				
AFF3	3899	broad.mit.edu	37	2	100266099	100266099	+	Silent	SNP	A	A	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:100266099A>T	ENST00000409236.2	-	11	1285	c.1173T>A	c.(1171-1173)gcT>gcA	p.A391A	AFF3_ENST00000409579.1_Silent_p.A416A|AFF3_ENST00000317233.4_Silent_p.A391A|AFF3_ENST00000356421.2_Silent_p.A416A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	391					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTCAGAGAGAGCGCGGAGAG	0.368																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1171-1173)gcT>gcA		AF4/FMR2 family, member 3							86.0	99.0	94.0					2																	100266099		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100266099A>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1173T>A	2.37:g.100266099A>T						AFF3_ENST00000409579.1_Silent_p.A416A|AFF3_ENST00000409236.1_Silent_p.A391A|AFF3_ENST00000356421.2_Silent_p.A416A	p.A391A	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			12	1408	-			391					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.1173T>A	CCDS42723.1																																																																																				0.368	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		19	59	0	0	0	1	0	19	59				
FCRL4	83417	broad.mit.edu	37	1	157551320	157551320	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:157551320C>T	ENST00000271532.1	-	7	1385		c.e7+1		FCRL4_ENST00000448509.2_Splice_Site	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGAGCACAAACCTGACTTCCT	0.597																																						ENST00000271532.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.e7+1		Fc receptor-like 4							78.0	66.0	70.0					1																	157551320		2203	4300	6503	SO:0001630	splice_region_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551320C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1249+1G>A	1.37:g.157551320C>T						FCRL4_ENST00000448509.2_Splice_Site		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			7	1385	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)						Q96PJ3|Q96RE0	Splice_Site	SNP	ENST00000271532.1	37		CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763141	0.49574	.	.	ENSG00000163518	ENST00000271532	.	.	.	4.63	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3882	0.32512	0.0:0.8935:0.0:0.1065	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL4	155817944	0.982000	0.34865	1.000000	0.80357	0.845000	0.48019	1.515000	0.35845	1.153000	0.42468	0.467000	0.42956	.		0.597	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	Intron	24	29	0	0	0	1	0	24	29				
UBE2NL	389898	broad.mit.edu	37	X	142967368	142967368	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:142967368G>C	ENST00000370494.1	+	1	196	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	56						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTAAACGTGAACTATTACT	0.408																																						ENST00000370494.1																			0				breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(166-168)Gaa>Caa		ubiquitin-conjugating enzyme E2N-like							100.0	98.0	99.0					X																	142967368		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967368G>C			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.166G>C	X.37:g.142967368G>C	ENSP00000359525:p.Glu56Gln						p.E56Q	NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN			1	196	+	Acute lymphoblastic leukemia(192;6.56e-05)		56					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.166G>C	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925536	0.34002	.	.	ENSG00000102069	ENST00000370494	T	0.38401	1.14	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44483	U	0.000448	T	0.50650	0.1628	M	0.83603	2.65	0.80722	D	1	P	0.51240	0.943	P	0.56216	0.794	T	0.54302	-0.8314	10	0.62326	D	0.03	-4.2455	7.8005	0.29172	0.0:0.0:1.0:0.0	.	56	Q5JXB2	UE2NL_HUMAN	Q	56	ENSP00000359525:E56Q	ENSP00000359525:E56Q	E	+	1	0	UBE2NL	142795034	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	6.641000	0.74324	0.849000	0.35215	0.190000	0.17370	GAA		0.408	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		49	79	0	0	0	1	0	49	79				
FLT1	2321	broad.mit.edu	37	13	28896990	28896990	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr13:28896990C>T	ENST00000282397.4	-	21	3141	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FLT1_ENST00000543394.1_5'Flank|FLT1_ENST00000540678.1_Missense_Mutation_p.E182K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	964	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAAAGCTTTCGCTGCTGGTG	0.478																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2890-2892)Gaa>Aaa		fms-related tyrosine kinase 1	Sunitinib(DB01268)						202.0	181.0	188.0					13																	28896990		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28896990C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2890G>A	13.37:g.28896990C>T	ENSP00000282397:p.Glu964Lys					FLT1_ENST00000540678.1_Missense_Mutation_p.E182K	p.E964K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	21	3141	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	964			Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2890G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293290	0.40594	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	T;T	0.76968	-0.83;-1.06	5.9	5.05	0.67936	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.238816	0.43110	D	0.000619	T	0.70369	0.3216	N	0.25245	0.725	0.80722	D	1	D	0.69078	0.997	P	0.52758	0.708	T	0.66484	-0.5912	10	0.08179	T	0.78	.	12.2569	0.54629	0.1339:0.7373:0.1288:0.0	.	964	P17948	VGFR1_HUMAN	K	964;182	ENSP00000282397:E964K;ENSP00000443311:E182K	ENSP00000282397:E964K	E	-	1	0	FLT1	27794990	0.990000	0.36364	0.991000	0.47740	0.693000	0.40251	2.844000	0.48246	1.497000	0.48584	0.556000	0.70494	GAA		0.478	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			40	75	0	0	0	1	0	40	75				
PHOSPHO2	493911	broad.mit.edu	37	2	170557640	170557640	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:170557640G>A	ENST00000359744.3	+	4	547	c.159G>A	c.(157-159)aaG>aaA	p.K53K	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	53							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GAGTCTTTAAGTATTTGGGAG	0.383																																						ENST00000359744.3																			0				breast(1)|large_intestine(1)|lung(6)|skin(2)	10						c.(157-159)aaG>aaA		phosphatase, orphan 2							100.0	102.0	101.0					2																	170557640		2203	4300	6503	SO:0001819	synonymous_variant	493911						metal ion binding|pyridoxal phosphatase activity	g.chr2:170557640G>A	BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.159G>A	2.37:g.170557640G>A						KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	p.K53K	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN			4	547	+			53					B2RC30|D3DPC7	Silent	SNP	ENST00000359744.3	37	c.159G>A	CCDS33319.1																																																																																				0.383	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489		30	32	0	0	0	1	0	30	32				
HERPUD2	64224	broad.mit.edu	37	7	35674870	35674870	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:35674870G>T	ENST00000396081.1	-	6	1620	c.816C>A	c.(814-816)ttC>ttA	p.F272L	HERPUD2_ENST00000311350.3_Missense_Mutation_p.F272L|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	272					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AGTCTCGATTGAAGTCTTCTT	0.438																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(814-816)ttC>ttA		HERPUD family member 2							208.0	199.0	202.0					7																	35674870		2203	4300	6503	SO:0001583	missense	64224				response to unfolded protein	integral to membrane		g.chr7:35674870G>T	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.816C>A	7.37:g.35674870G>T	ENSP00000379390:p.Phe272Leu					HERPUD2_ENST00000311350.3_Missense_Mutation_p.F272L|HERPUD2_ENST00000426180.1_5'UTR	p.F272L	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN			6	1620	-			272					A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	c.816C>A	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	G	7.627	0.677990	0.14841	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.17054	2.3;2.3	5.96	1.94	0.25998	.	0.412677	0.29956	N	0.010764	T	0.06690	0.0171	N	0.05124	-0.11	0.27834	N	0.941359	B	0.02656	0.0	B	0.01281	0.0	T	0.39623	-0.9605	10	0.08381	T	0.77	-15.7427	9.9564	0.41668	0.1334:0.3788:0.4878:0.0	.	272	Q9BSE4	HERP2_HUMAN	L	272	ENSP00000379390:F272L;ENSP00000310729:F272L	ENSP00000310729:F272L	F	-	3	2	HERPUD2	35641395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.995000	0.29706	0.384000	0.24942	0.655000	0.94253	TTC		0.438	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		37	46	1	0	3.62531e-18	1	3.85393e-18	37	46				
REG3G	130120	broad.mit.edu	37	2	79254978	79254978	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:79254978G>A	ENST00000272324.5	+	5	563	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	REG3G_ENST00000409471.1_Missense_Mutation_p.V81M|REG3G_ENST00000393897.2_Missense_Mutation_p.V127M	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	127	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAGCACTGATGTGATGAATTA	0.498																																						ENST00000272324.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(379-381)Gtg>Atg		regenerating islet-derived 3 gamma							160.0	153.0	155.0					2																	79254978		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254978G>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.379G>A	2.37:g.79254978G>A	ENSP00000272324:p.Val127Met					REG3G_ENST00000409471.1_Missense_Mutation_p.V81M|REG3G_ENST00000393897.2_Missense_Mutation_p.V127M	p.V127M	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN			5	563	+			127			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.379G>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185157	0.38609	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.18810	2.19;2.19;2.27	4.74	-2.84	0.05751	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.485095	0.17272	N	0.180332	T	0.16981	0.0408	L	0.49571	1.57	0.09310	N	1	P;B	0.44309	0.832;0.043	P;B	0.47346	0.544;0.075	T	0.09818	-1.0657	10	0.41790	T	0.15	.	0.3146	0.00293	0.3386:0.1353:0.25:0.2762	.	81;127	Q3SYE6;Q6UW15	.;REG3G_HUMAN	M	127;127;81	ENSP00000377475:V127M;ENSP00000272324:V127M;ENSP00000387105:V81M	ENSP00000272324:V127M	V	+	1	0	REG3G	79108486	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	-0.539000	0.06113	-0.458000	0.07023	-0.181000	0.13052	GTG		0.498	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		47	73	0	0	0	1	0	47	73				
MPRIP	23164	broad.mit.edu	37	17	17078626	17078626	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:17078626C>T	ENST00000341712.4	+	19	2609	c.2609C>T	c.(2608-2610)gCt>gTt	p.A870V	MPRIP_ENST00000395811.5_Missense_Mutation_p.A870V|MPRIP_ENST00000444976.1_Missense_Mutation_p.A832V|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.A870V			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	870	Interaction with PPP1R12A.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACCGCCTGGCTGCAGAGATC	0.622																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2608-2610)gCt>gTt		myosin phosphatase Rho interacting protein							53.0	50.0	51.0					17																	17078626		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17078626C>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2609C>T	17.37:g.17078626C>T	ENSP00000342379:p.Ala870Val					MPRIP_ENST00000395804.3_Missense_Mutation_p.A870V|MPRIP_ENST00000341712.4_Missense_Mutation_p.A870V|MPRIP_ENST00000444976.1_Missense_Mutation_p.A832V|RP11-45M22.3_ENST00000584203.1_RNA	p.A870V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			19	2698	+			870			Interaction with PPP1R12A.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2609C>T	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715586	0.89112	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.77	5.77	0.91146	.	0.169666	0.52532	D	0.000077	T	0.44705	0.1306	L	0.44542	1.39	0.37047	D	0.897391	D;P;P	0.76494	0.999;0.853;0.953	D;P;B	0.67382	0.951;0.612;0.297	T	0.29058	-1.0024	10	0.39692	T	0.17	-11.3623	19.9925	0.97371	0.0:1.0:0.0:0.0	.	1234;870;870	Q9Y6X7;Q6WCQ1-2;Q6WCQ1	.;.;MPRIP_HUMAN	V	832;870;870;870	ENSP00000400189:A832V;ENSP00000379156:A870V;ENSP00000379149:A870V;ENSP00000342379:A870V	ENSP00000342379:A870V	A	+	2	0	MPRIP	17019351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.596000	0.67570	2.721000	0.93114	0.655000	0.94253	GCT		0.622	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		7	46	0	0	0	1	0	7	46				
KIAA1324L	222223	broad.mit.edu	37	7	86542401	86542401	+	Silent	SNP	C	C	T	rs369087183		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:86542401C>T	ENST00000450689.2	-	14	2036	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	KIAA1324L_ENST00000416314.1_Silent_p.S450S|KIAA1324L_ENST00000297222.6_Silent_p.S377S|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000490995.1_5'UTR	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	617						integral component of membrane (GO:0016021)		p.S377S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGGGGACACACGATGAACCCG	0.522																																						ENST00000450689.2																			1	Substitution - coding silent(1)	p.S377S(1)	large_intestine(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1849-1851)tcG>tcA		KIAA1324-like		C	,	1,4405	2.1+/-5.4	0,1,2202	157.0	130.0	139.0		1851,1350	0.5	1.0	7		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KIAA1324L	NM_001142749.2,NM_152748.3	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	617/1030,450/863	86542401	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	222223					integral to membrane		g.chr7:86542401C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1851G>A	7.37:g.86542401C>T						KIAA1324L_ENST00000297222.6_Silent_p.S377S|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000416314.1_Silent_p.S450S	p.S617S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			14	2036	-	Esophageal squamous(14;0.0058)		617					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	c.1851G>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231426	0.22626	2.27E-4	1.16E-4	ENSG00000164659	ENST00000423294	.	.	.	5.82	0.506	0.16961	.	.	.	.	.	T	0.43144	0.1234	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25676	-1.0125	4	.	.	.	.	2.5706	0.04794	0.1114:0.4305:0.2392:0.2188	.	.	.	.	M	578	.	.	V	-	1	0	KIAA1324L	86380337	0.902000	0.30710	1.000000	0.80357	0.972000	0.66771	-0.060000	0.11712	0.360000	0.24265	-0.878000	0.02970	GTG		0.522	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		14	25	0	0	0	1	0	14	25				
RP1L1	94137	broad.mit.edu	37	8	10467031	10467031	+	Missense_Mutation	SNP	G	G	A	rs267601688	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:10467031G>A	ENST00000382483.3	-	4	4800	c.4577C>T	c.(4576-4578)aCg>aTg	p.T1526M		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1606					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTTCTCCGTCTTCTTCAG	0.662													G|||	5	0.000998403	0.0	0.0	5008	,	,		17783	0.0		0.0	False		,,,				2504	0.0051					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(4576-4578)aCg>aTg		retinitis pigmentosa 1-like 1		G	MET/THR	3,4181		0,3,2089	36.0	41.0	40.0		4577	1.7	0.8	8		40	0,8438		0,0,4219	no	missense	RP1L1	NM_178857.5	81	0,3,6308	AA,AG,GG		0.0,0.0717,0.0238	benign	1526/2401	10467031	3,12619	2092	4219	6311	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467031G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4577C>T	8.37:g.10467031G>A	ENSP00000371923:p.Thr1526Met						p.T1526M	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4800	-			1526					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4577C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	1.839	-0.467899	0.04476	7.17E-4	0.0	ENSG00000183638	ENST00000382483	T	0.03772	3.81	5.32	1.67	0.24075	.	0.715988	0.11578	N	0.549982	T	0.02304	0.0071	N	0.02916	-0.46	0.21064	N	0.999793	B	0.10296	0.003	B	0.04013	0.001	T	0.46925	-0.9156	10	0.33940	T	0.23	-3.1209	8.4047	0.32608	0.7702:0.0:0.2298:0.0	.	1526	A6NKC6	.	M	1526	ENSP00000371923:T1526M	ENSP00000371923:T1526M	T	-	2	0	RP1L1	10504441	0.997000	0.39634	0.798000	0.32154	0.085000	0.17905	3.274000	0.51631	0.342000	0.23796	-1.564000	0.00881	ACG		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			29	42	0	0	0	1	0	29	42				
AXL	558	broad.mit.edu	37	19	41743930	41743930	+	Missense_Mutation	SNP	G	G	A	rs141302305	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:41743930G>A	ENST00000301178.4	+	7	1055	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	AXL_ENST00000359092.3_Missense_Mutation_p.V289M|AXL_ENST00000593513.1_Missense_Mutation_p.V21M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V289M(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAAGCATCCGTGCCCCCCCA	0.647																																						ENST00000301178.4																			2	Substitution - Missense(2)	p.V289M(2)	prostate(1)|stomach(1)	breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(865-867)Gtg>Atg		AXL receptor tyrosine kinase		G	MET/VAL,MET/VAL	0,4406		0,0,2203	96.0	98.0	98.0		865,865	4.3	0.9	19	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	AXL	NM_001699.4,NM_021913.3	21,21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	289/886,289/895	41743930	3,13003	2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41743930G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.865G>A	19.37:g.41743930G>A	ENSP00000301178:p.Val289Met					AXL_ENST00000359092.3_Missense_Mutation_p.V289M|AXL_ENST00000593513.1_Missense_Mutation_p.V21M	p.V289M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			7	1055	+			289			Fibronectin type-III 1.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.865G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.015400	0.54468	0.0	3.49E-4	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.61392	0.11;0.11	4.26	4.26	0.50523	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168793	0.38959	U	0.001507	T	0.70176	0.3194	M	0.63843	1.955	0.36831	D	0.886874	D;D	0.76494	0.998;0.999	P;D	0.63877	0.868;0.919	T	0.77534	-0.2552	10	0.66056	D	0.02	-16.2581	14.0204	0.64550	0.0:0.0:1.0:0.0	.	289;289	P30530-2;P30530	.;UFO_HUMAN	M	289	ENSP00000301178:V289M;ENSP00000351995:V289M	ENSP00000301178:V289M	V	+	1	0	AXL	46435770	1.000000	0.71417	0.912000	0.35992	0.356000	0.29392	4.037000	0.57311	2.347000	0.79759	0.448000	0.29417	GTG		0.647	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			43	67	0	0	0	1	0	43	67				
CIC	23152	broad.mit.edu	37	19	42794634	42794634	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:42794634C>T	ENST00000575354.2	+	10	1754	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	CIC_ENST00000572681.2_Missense_Mutation_p.R1481W|CIC_ENST00000160740.3_Missense_Mutation_p.R572W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	572	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGCCCCCTACGGCCCCCACC	0.672			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4441-4443)Cgg>Tgg		capicua transcriptional repressor							34.0	41.0	39.0					19																	42794634		2202	4297	6499	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794634C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1714C>T	19.37:g.42794634C>T	ENSP00000458663:p.Arg572Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R572W|CIC_ENST00000575354.2_Missense_Mutation_p.R572W	p.R1481W			Q96RK0	CIC_HUMAN			11	4509	+		Prostate(69;0.00682)	572					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.4441C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431486	0.25813	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.98	3.94	0.45596	.	.	.	.	.	T	0.27205	0.0667	N	0.08118	0	0.29984	N	0.817473	D	0.69078	0.997	P	0.50378	0.639	T	0.11179	-1.0598	8	0.87932	D	0	-16.2908	9.5826	0.39497	0.0:0.9014:0.0:0.0986	.	572	Q96RK0	CIC_HUMAN	W	572	.	ENSP00000160740:R572W	R	+	1	2	CIC	47486474	0.976000	0.34144	0.828000	0.32881	0.359000	0.29487	2.523000	0.45580	1.236000	0.43740	0.491000	0.48974	CGG		0.672	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			35	50	0	0	0	1	0	35	50				
SLC16A2	6567	broad.mit.edu	37	X	73744511	73744511	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:73744511C>A	ENST00000587091.1	+	3	1070	c.893C>A	c.(892-894)aCc>aAc	p.T298N	SLC16A2_ENST00000276033.5_Missense_Mutation_p.T372N	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	298					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GGTGTCCGCACCCTGCACCAG	0.572																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1114-1116)aCc>aAc		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						88.0	75.0	79.0					X																	73744511		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73744511C>A		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.893C>A	X.37:g.73744511C>A	ENSP00000465734:p.Thr298Asn					SLC16A2_ENST00000587091.1_Missense_Mutation_p.T298N	p.T372N			P36021	MOT8_HUMAN			3	1281	+			298					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1115C>A	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273331	0.23221	.	.	ENSG00000147100	ENST00000276033	T	0.59083	0.29	5.66	1.68	0.24146	Major facilitator superfamily domain, general substrate transporter (1);	0.368951	0.31279	N	0.007931	T	0.33323	0.0859	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15093	-1.0449	10	0.22109	T	0.4	.	12.018	0.53326	0.1037:0.224:0.6722:0.0	.	298	P36021	MOT8_HUMAN	N	372	ENSP00000276033:T372N	ENSP00000276033:T372N	T	+	2	0	SLC16A2	73661236	0.991000	0.36638	0.651000	0.29564	0.976000	0.68499	1.797000	0.38804	0.167000	0.19631	0.597000	0.82753	ACC		0.572	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			39	47	1	0	2.91434e-09	1	3.04329e-09	39	47				
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		47	Substitution - Missense(46)|Unknown(1)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cAa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							85.0	80.0	82.0					4																	153247366		2203	4299	6502	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln					FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q	p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			21	27	0	0	0	1	0	21	27				
FMN2	56776	broad.mit.edu	37	1	240371620	240371620	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:240371620G>A	ENST00000319653.9	+	5	3738	c.3508G>A	c.(3508-3510)Gga>Aga	p.G1170R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1170	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGGCAT	0.692																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3508-3510)Gga>Aga		formin 2							7.0	8.0	8.0					1																	240371620		2139	4219	6358	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371620G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3508G>A	1.37:g.240371620G>A	ENSP00000318884:p.Gly1170Arg						p.G1170R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3738	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1170			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3508G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	6.580	0.475409	0.12521	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	2.84	1.88	0.25563	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	.	.	.	.	T	0.75406	0.3845	M	0.84846	2.72	0.22489	N	0.999056	D	0.59357	0.985	P	0.52189	0.692	T	0.65573	-0.6135	8	.	.	.	.	9.7225	0.40311	0.0:0.2133:0.7867:0.0	.	1170	Q9NZ56	FMN2_HUMAN	R	1170	ENSP00000318884:G1170R	.	G	+	1	0	FMN2	238438243	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.474000	0.22148	0.508000	0.28173	0.484000	0.47621	GGA		0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	15	0	0	0	1	0	6	15				
GSTA3	2940	broad.mit.edu	37	6	52762720	52762720	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:52762720C>A	ENST00000211122.3	-	6	514	c.449G>T	c.(448-450)gGc>gTc	p.G150V	GSTA3_ENST00000370968.1_Missense_Mutation_p.G100V	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	150	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAGCTTGTTGCCAACAAGGTA	0.517																																						ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(448-450)gGc>gTc		glutathione S-transferase alpha 3	Glutathione(DB00143)						167.0	144.0	152.0					6																	52762720		2203	4300	6503	SO:0001583	missense	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52762720C>A	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.449G>T	6.37:g.52762720C>A	ENSP00000211122:p.Gly150Val					GSTA3_ENST00000370968.1_Missense_Mutation_p.G100V	p.G150V	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN			6	514	-	Lung NSC(77;0.0912)		150			GST C-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	c.449G>T	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888887	0.72524	.	.	ENSG00000174156	ENST00000370968;ENST00000211122	T;T	0.54071	0.59;0.59	3.91	3.91	0.45181	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75561	0.3866	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83507	0.0078	10	0.87932	D	0	.	16.0341	0.80608	0.0:1.0:0.0:0.0	.	150	Q16772	GSTA3_HUMAN	V	100;150	ENSP00000360007:G100V;ENSP00000211122:G150V	ENSP00000211122:G150V	G	-	2	0	GSTA3	52870679	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	5.136000	0.64783	2.176000	0.68965	0.655000	0.94253	GGC		0.517	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			58	66	1	0	1.13205e-32	1	1.21438e-32	58	66				
SPTA1	6708	broad.mit.edu	37	1	158618428	158618428	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:158618428C>T	ENST00000368147.4	-	26	3765	c.3585G>A	c.(3583-3585)acG>acA	p.T1195T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1195					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGCTCCTTCGTGTCATCTG	0.498																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3583-3585)acG>acA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							100.0	97.0	98.0					1																	158618428		1956	4161	6117	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158618428C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3585G>A	1.37:g.158618428C>T						SPTA1_ENST00000368147.3_Silent_p.T1195T	p.T1195T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			26	3765	-	all_hematologic(112;0.0378)		1195					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3585G>A	CCDS41423.1																																																																																				0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		37	39	0	0	0	1	0	37	39				
OCEL1	79629	broad.mit.edu	37	19	17338751	17338751	+	Silent	SNP	T	T	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:17338751T>C	ENST00000215061.4	+	4	599	c.555T>C	c.(553-555)tgT>tgC	p.C185C	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Intron|OCEL1_ENST00000597836.1_Silent_p.C129C	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	185										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AGGTGGGGTGTGCACAGGCAA	0.637																																						ENST00000215061.4																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						c.(553-555)tgT>tgC		occludin/ELL domain containing 1							83.0	76.0	79.0					19																	17338751		2203	4300	6503	SO:0001819	synonymous_variant	79629							g.chr19:17338751T>C	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.555T>C	19.37:g.17338751T>C						OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Silent_p.C129C|OCEL1_ENST00000601529.1_Intron	p.C185C	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN			4	599	+			185						Silent	SNP	ENST00000215061.4	37	c.555T>C	CCDS12351.1																																																																																				0.637	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		25	46	0	0	0	1	0	25	46				
ALS2CL	259173	broad.mit.edu	37	3	46713390	46713390	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:46713390C>T	ENST00000318962.4	-	24	2751	c.2668G>A	c.(2668-2670)Gtg>Atg	p.V890M	ALS2CL_ENST00000383742.3_Missense_Mutation_p.V237M|ALS2CL_ENST00000415953.1_Missense_Mutation_p.V890M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	890	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCGACACCACGTAGATGAGA	0.627																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(2668-2670)Gtg>Atg		ALS2 C-terminal like							73.0	57.0	62.0					3																	46713390		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46713390C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2668G>A	3.37:g.46713390C>T	ENSP00000313670:p.Val890Met					ALS2CL_ENST00000415953.1_Missense_Mutation_p.V890M|ALS2CL_ENST00000383742.3_Missense_Mutation_p.V237M	p.V890M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	24	2751	-			890			VPS9.		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.2668G>A	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095352	0.76870	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.42513	0.97;0.97;0.97	5.29	5.29	0.74685	Vacuolar sorting protein 9 (2);	0.000000	0.53938	D	0.000053	T	0.65585	0.2705	M	0.73962	2.25	0.47862	D	0.999531	D	0.89917	1.0	D	0.97110	1.0	T	0.69461	-0.5139	10	0.87932	D	0	.	16.4135	0.83727	0.0:1.0:0.0:0.0	.	890	Q60I27	AL2CL_HUMAN	M	890;890;237	ENSP00000313670:V890M;ENSP00000413223:V890M;ENSP00000373248:V237M	ENSP00000313670:V890M	V	-	1	0	ALS2CL	46688394	1.000000	0.71417	0.994000	0.49952	0.525000	0.34531	6.354000	0.73036	2.465000	0.83290	0.650000	0.86243	GTG		0.627	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		15	24	0	0	0	1	0	15	24				
FBXO24	26261	broad.mit.edu	37	7	100187923	100187923	+	Missense_Mutation	SNP	C	C	T	rs563719782		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:100187923C>T	ENST00000241071.6	+	3	587	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.R89C|FBXO24_ENST00000360609.2_Missense_Mutation_p.R89C|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Missense_Mutation_p.R127C|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R77C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	89					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCAGTCCGCGCCTCCAAGA	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17432	0.0		0.0	False		,,,				2504	0.0					ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(265-267)Cgc>Tgc		F-box protein 24							68.0	57.0	61.0					7																	100187923		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187923C>T	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.265C>T	7.37:g.100187923C>T	ENSP00000241071:p.Arg89Cys					FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Missense_Mutation_p.R127C|FBXO24_ENST00000468962.1_Missense_Mutation_p.R77C|FBXO24_ENST00000465843.1_Missense_Mutation_p.R89C|FBXO24_ENST00000360609.2_Missense_Mutation_p.R89C|PCOLCE-AS1_ENST00000442166.2_RNA	p.R89C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			3	587	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		89					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.265C>T	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528809	0.64860	.	.	ENSG00000106336	ENST00000461079;ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	4.69	3.76	0.43208	F-box domain, Skp2-like (1);	0.096272	0.39615	N	0.001301	T	0.44244	0.1284	N	0.08118	0	0.49051	D	0.999745	D;D;D;D	0.76494	0.996;0.995;0.995;0.999	P;P;P;P	0.56916	0.65;0.549;0.549;0.809	T	0.50841	-0.8780	10	0.87932	D	0	-14.348	10.184	0.42986	0.1974:0.8026:0.0:0.0	.	77;127;89;89	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	C	112;89;89;89;94;77;127	ENSP00000419587:R112C;ENSP00000241071:R89C;ENSP00000353821:R89C;ENSP00000419602:R89C;ENSP00000417179:R94C;ENSP00000420239:R77C;ENSP00000416558:R127C	ENSP00000241071:R89C	R	+	1	0	FBXO24	100025859	0.053000	0.20554	0.830000	0.32933	0.721000	0.41392	0.954000	0.29175	2.439000	0.82584	0.555000	0.69702	CGC		0.602	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			22	22	0	0	0	1	0	22	22				
PLXNB2	23654	broad.mit.edu	37	22	50728775	50728775	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr22:50728775G>A	ENST00000449103.1	-	3	379	c.239C>T	c.(238-240)cCg>cTg	p.P80L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P80L			O15031	PLXB2_HUMAN	plexin B2	80	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.P123L(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGATGGGCGGCGTGCACTT	0.652																																						ENST00000449103.1																			1	Substitution - Missense(1)	p.P123L(1)	lung(1)	breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(238-240)cCg>cTg		plexin B2							37.0	45.0	42.0					22																	50728775		2091	4220	6311	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728775G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.239C>T	22.37:g.50728775G>A	ENSP00000409171:p.Pro80Leu					PLXNB2_ENST00000359337.4_Missense_Mutation_p.P80L	p.P80L			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	379	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	80			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.239C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884455	0.72410	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455;ENST00000425954	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	4.08	4.08	0.47627	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.50627	D	0.000119	T	0.30039	0.0752	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30357	-0.9981	10	0.72032	D	0.01	.	16.4766	0.84134	0.0:0.0:1.0:0.0	.	80	O15031	PLXB2_HUMAN	L	80	ENSP00000409171:P80L;ENSP00000352288:P80L;ENSP00000392620:P80L;ENSP00000387470:P80L	ENSP00000352288:P80L	P	-	2	0	PLXNB2	49070902	1.000000	0.71417	0.427000	0.26684	0.500000	0.33767	9.108000	0.94275	2.110000	0.64415	0.561000	0.74099	CCG		0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		20	6	0	0	0	1	0	20	6				
TBC1D1	23216	broad.mit.edu	37	4	38138875	38138875	+	Silent	SNP	G	G	A	rs375379532		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr4:38138875G>A	ENST00000261439.4	+	20	3781	c.3426G>A	c.(3424-3426)acG>acA	p.T1142T	TBC1D1_ENST00000508802.1_Silent_p.T1133T|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1142					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCTGCAGACGGTGGAGGAGC	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15446	0.0		0.0	False		,,,				2504	0.0					ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(3424-3426)acG>acA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1		G		1,4403	2.1+/-5.4	0,1,2201	31.0	36.0	34.0		3426	-2.6	0.0	4		34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TBC1D1	NM_015173.2		0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154		1142/1169	38138875	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38138875G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3426G>A	4.37:g.38138875G>A						TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.T1133T	p.T1142T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			20	3781	+			1142					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.3426G>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	0.992	-0.693597	0.03303	2.27E-4	1.16E-4	ENSG00000065882	ENST00000510573	.	.	.	5.16	-2.62	0.06152	.	.	.	.	.	T	0.20577	0.0495	.	.	.	0.26265	N	0.978517	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	-0.0394	3.4262	0.07412	0.2121:0.4531:0.1507:0.1841	.	.	.	.	S	830	.	.	G	+	1	0	TBC1D1	37815270	0.566000	0.26618	0.002000	0.10522	0.122000	0.20287	0.029000	0.13666	-0.434000	0.07275	-0.156000	0.13503	GGT		0.642	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		29	27	0	0	0	1	0	29	27				
TMEM62	80021	broad.mit.edu	37	15	43441229	43441229	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr15:43441229C>T	ENST00000260403.2	+	7	1025	c.746C>T	c.(745-747)tCg>tTg	p.S249L		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	249						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTGGTTAGTTCGGCTATAGCT	0.408																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(745-747)tCg>tTg		transmembrane protein 62							140.0	136.0	138.0					15																	43441229		2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43441229C>T	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.746C>T	15.37:g.43441229C>T	ENSP00000260403:p.Ser249Leu						p.S249L	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	7	1025	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	249					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.746C>T	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674580	0.88445	.	.	ENSG00000137842	ENST00000260403	T	0.70399	-0.48	4.96	4.96	0.65561	.	0.115142	0.64402	D	0.000010	T	0.81235	0.4780	M	0.75264	2.295	0.58432	D	0.999998	D	0.69078	0.997	P	0.57679	0.825	T	0.81441	-0.0931	10	0.40728	T	0.16	-7.3823	18.5638	0.91110	0.0:1.0:0.0:0.0	.	249	Q0P6H9	TMM62_HUMAN	L	249	ENSP00000260403:S249L	ENSP00000260403:S249L	S	+	2	0	TMEM62	41228521	1.000000	0.71417	0.981000	0.43875	0.824000	0.46624	5.672000	0.68102	2.459000	0.83118	0.467000	0.42956	TCG		0.408	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		27	30	0	0	0	1	0	27	30				
RRAGB	10325	broad.mit.edu	37	X	55757849	55757849	+	Nonsense_Mutation	SNP	C	C	T	rs376938151		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:55757849C>T	ENST00000262850.7	+	6	873	c.430C>T	c.(430-432)Cga>Tga	p.R144*	RRAGB_ENST00000374941.4_Nonsense_Mutation_p.R116*|RRAGB_ENST00000474757.1_3'UTR	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CAACATCTTCCGAAATGTGGA	0.403																																						ENST00000374941.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						c.(346-348)Cga>Tga		Ras-related GTP binding B		C	stop/ARG,stop/ARG	1,3834		0,0,1,1632,570	55.0	47.0	50.0		346,430	1.9	1.0	X		50	0,6728		0,0,0,2428,1872	no	stop-gained,stop-gained	RRAGB	NM_006064.4,NM_016656.3	,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	,	116/347,144/375	55757849	1,10562	2203	4300	6503	SO:0001587	stop_gained	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55757849C>T	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.430C>T	X.37:g.55757849C>T	ENSP00000262850:p.Arg144*					RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000262850.7_Nonsense_Mutation_p.R144*	p.R116*	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN			5	935	+			144						Nonsense_Mutation	SNP	ENST00000262850.7	37	c.346C>T	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346671	0.95807	2.61E-4	0.0	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	.	.	.	4.74	1.88	0.25563	.	0.062582	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7741	6.3543	0.21393	0.321:0.5866:0.0:0.0924	.	.	.	.	X	116;78;144	.	ENSP00000262850:R144X	R	+	1	2	RRAGB	55774574	1.000000	0.71417	0.980000	0.43619	0.943000	0.58893	2.973000	0.49264	0.029000	0.15352	0.513000	0.50165	CGA		0.403	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		7	13	0	0	0	1	0	7	13				
CD226	10666	broad.mit.edu	37	18	67563152	67563152	+	Missense_Mutation	SNP	C	C	T	rs79158855	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr18:67563152C>T	ENST00000280200.4	-	4	780	c.512G>A	c.(511-513)cGt>cAt	p.R171H	CD226_ENST00000582621.1_Missense_Mutation_p.R171H|CD226_ENST00000577287.1_Missense_Mutation_p.R16H|CD226_ENST00000581982.1_Missense_Mutation_p.R16H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	171	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GTCGATCTGACGGGGCTGGAT	0.512													C|||	4	0.000798722	0.0	0.0	5008	,	,		18360	0.002		0.001	False		,,,				2504	0.001				NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(511-513)cGt>cAt		CD226 molecule		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	105.0	110.0		512	2.4	1.0	18	dbSNP_133	110	24,8576	17.3+/-56.4	0,24,4276	yes	missense	CD226	NM_006566.2	29	0,25,6478	TT,TC,CC		0.2791,0.0227,0.1922	benign	171/337	67563152	25,12981	2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67563152C>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.512G>A	18.37:g.67563152C>T	ENSP00000280200:p.Arg171His					CD226_ENST00000577287.1_Missense_Mutation_p.R16H|CD226_ENST00000581982.1_Missense_Mutation_p.R16H|CD226_ENST00000582621.1_Missense_Mutation_p.R171H	p.R171H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			4	780	-		Esophageal squamous(42;0.129)	171			Ig-like C2-type 2.		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.512G>A	CCDS11997.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	0.028	-1.353444	0.01256	2.27E-4	0.002791	ENSG00000150637	ENST00000280200	T	0.22336	1.96	4.82	2.4	0.29515	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.375068	0.29551	N	0.011836	T	0.03263	0.0095	N	0.00146	-1.995	0.21499	N	0.999668	B	0.02656	0.0	B	0.01281	0.0	T	0.43081	-0.9413	10	0.02654	T	1	.	7.6051	0.28097	0.0:0.1401:0.0:0.8599	.	171	Q15762	CD226_HUMAN	H	171	ENSP00000280200:R171H	ENSP00000280200:R171H	R	-	2	0	CD226	65714132	0.999000	0.42202	0.969000	0.41365	0.311000	0.27955	0.888000	0.28268	0.393000	0.25203	-1.352000	0.01234	CGT		0.512	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		26	28	0	0	0	1	0	26	28				
PRL	5617	broad.mit.edu	37	6	22290511	22290511	+	Silent	SNP	C	C	T	rs376254080		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:22290511C>T	ENST00000306482.1	-	4	902	c.384G>A	c.(382-384)acG>acA	p.T128T	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	128					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CACGTACTTCCGTGACCAGAT	0.463																																						ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(382-384)acG>acA		prolactin		C	,	1,4405	2.1+/-5.4	0,1,2202	120.0	111.0	114.0		384,384	-11.7	0.0	6		114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRL	NM_000948.5,NM_001163558.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	128/228,128/228	22290511	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290511C>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.384G>A	6.37:g.22290511C>T						RP3-404K8.2_ENST00000561912.1_RNA	p.T128T	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			4	902	-	Ovarian(93;0.163)		128					Q15199|Q92996	Silent	SNP	ENST00000306482.1	37	c.384G>A	CCDS4548.1																																																																																				0.463	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		29	40	0	0	0	1	0	29	40				
TAB3	257397	broad.mit.edu	37	X	30872877	30872877	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:30872877G>A	ENST00000378933.1	-	3	1082	c.905C>T	c.(904-906)tCa>tTa	p.S302L	TAB3_ENST00000378932.2_Missense_Mutation_p.S302L|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.S302L|TAB3_ENST00000288422.2_Missense_Mutation_p.S302L|TAB3_ENST00000378928.1_5'Flank	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	302	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCTGAAGGGTGAAGGACATTG	0.488																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(904-906)tCa>tTa		TGF-beta activated kinase 1/MAP3K7 binding protein 3							139.0	100.0	113.0					X																	30872877		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872877G>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.905C>T	X.37:g.30872877G>A	ENSP00000368215:p.Ser302Leu					TAB3_ENST00000288422.2_Missense_Mutation_p.S302L|TAB3_ENST00000378932.2_Missense_Mutation_p.S302L|TAB3_ENST00000378930.3_Missense_Mutation_p.S302L	p.S302L	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	1082	-			302			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.905C>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661787	0.67700	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.77491	0.4138	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.78942	-0.2005	10	0.40728	T	0.16	-3.5792	17.2927	0.87162	0.0:0.0:1.0:0.0	.	302;302	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	L	302	ENSP00000368215:S302L;ENSP00000368212:S302L;ENSP00000288422:S302L;ENSP00000368214:S302L	ENSP00000288422:S302L	S	-	2	0	TAB3	30782798	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.879000	0.92398	2.095000	0.63458	0.538000	0.68166	TCA		0.488	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		21	18	0	0	0	1	0	21	18				
NLRP5	126206	broad.mit.edu	37	19	56569658	56569658	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:56569658C>T	ENST00000390649.3	+	14	3352	c.3352C>T	c.(3352-3354)Ctt>Ttt	p.L1118F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1118					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.L1118I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCCTTGGCCCTTTCCTGCAA	0.517																																						ENST00000390649.3																			1	Substitution - Missense(1)	p.L1118I(1)	kidney(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(3352-3354)Ctt>Ttt		NLR family, pyrin domain containing 5							167.0	163.0	164.0					19																	56569658		2046	4201	6247	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56569658C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3352C>T	19.37:g.56569658C>T	ENSP00000375063:p.Leu1118Phe						p.L1118F	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	14	3352	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1118					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.3352C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297769	0.40694	.	.	ENSG00000171487	ENST00000390649	T	0.61859	0.07	3.36	1.15	0.20763	.	0.629085	0.12181	N	0.492089	T	0.70141	0.3190	M	0.83223	2.63	0.09310	N	1	D	0.69078	0.997	D	0.65443	0.935	T	0.55903	-0.8067	10	0.46703	T	0.11	.	3.8696	0.09031	0.2575:0.6122:0.0:0.1303	.	1118	P59047	NALP5_HUMAN	F	1118	ENSP00000375063:L1118F	ENSP00000375063:L1118F	L	+	1	0	NLRP5	61261470	0.030000	0.19436	0.016000	0.15963	0.007000	0.05969	0.605000	0.24179	0.390000	0.25115	0.561000	0.74099	CTT		0.517	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		23	32	0	0	0	1	0	23	32				
SPIRE2	84501	broad.mit.edu	37	16	89922602	89922602	+	Silent	SNP	C	C	A	rs199970599		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89922602C>A	ENST00000378247.3	+	7	1103	c.1060C>A	c.(1060-1062)Cgg>Agg	p.R354R	SPIRE2_ENST00000393062.2_Silent_p.R354R	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	354	WH2 3. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CAAGCAGGAGCGGAGGCTGCG	0.682																																						ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1060-1062)Cgg>Agg		spire-type actin nucleation factor 2							19.0	20.0	20.0					16																	89922602		2188	4290	6478	SO:0001819	synonymous_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89922602C>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1060C>A	16.37:g.89922602C>A						SPIRE2_ENST00000393062.2_Silent_p.R354R	p.R354R	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	7	1103	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	354			WH2 3.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	c.1060C>A	CCDS32516.1																																																																																				0.682	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		7	11	1	0	1	1	1	7	11				
IGHG4	3503	broad.mit.edu	37	14	106092291	106092291	+	RNA	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr14:106092291G>A	ENST00000390543.2	-	0	112							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCACGACACCGTCACCGGTTC	0.672																																						ENST00000390543.2																			0																				34.0	36.0	35.0					14																	106092291		1950	4102	6052			0							g.chr14:106092291G>A	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106092291G>A														0	112	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.672	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		21	23	0	0	0	1	0	21	23				
PLK3	1263	broad.mit.edu	37	1	45268952	45268952	+	Missense_Mutation	SNP	G	G	A	rs370347467		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:45268952G>A	ENST00000372201.4	+	8	1200	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	321					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTACACCCCCGATCGACTCCC	0.577																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(961-963)Gat>Aat		polo-like kinase 3		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	62.0	66.0	64.0		961	4.6	1.0	1		64	0,8600		0,0,4300	no	missense	PLK3	NM_004073.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	321/647	45268952	1,13005	2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45268952G>A	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.961G>A	1.37:g.45268952G>A	ENSP00000361275:p.Asp321Asn					PLK3_ENST00000465443.1_3'UTR	p.D321N	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			8	1200	+	Acute lymphoblastic leukemia(166;0.155)		321					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.961G>A	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908516	0.72868	2.27E-4	0.0	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.24908	1.83	5.52	4.61	0.57282	Protein kinase-like domain (1);	.	.	.	.	T	0.32496	0.0831	M	0.77313	2.365	0.51482	D	0.99992	B	0.29432	0.244	B	0.26310	0.068	T	0.14254	-1.0479	9	0.48119	T	0.1	-17.4949	14.9569	0.71124	0.0:0.0:0.8563:0.1437	.	321	Q9H4B4	PLK3_HUMAN	N	321;296	ENSP00000361275:D321N	ENSP00000361275:D321N	D	+	1	0	PLK3	45041539	1.000000	0.71417	0.994000	0.49952	0.701000	0.40568	7.642000	0.83385	1.333000	0.45449	0.561000	0.74099	GAT		0.577	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		29	45	0	0	0	1	0	29	45				
SLC28A3	64078	broad.mit.edu	37	9	86894919	86894919	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr9:86894919A>G	ENST00000376238.4	-	16	1848	c.1799T>C	c.(1798-1800)gTg>gCg	p.V600A	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.V531A	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	600					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GAAGCAGGCCACGGTCCCCGC	0.587																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1798-1800)gTg>gCg		solute carrier family 28 (concentrative nucleoside transporter), member 3							88.0	72.0	77.0					9																	86894919		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86894919A>G	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1799T>C	9.37:g.86894919A>G	ENSP00000365413:p.Val600Ala					SLC28A3_ENST00000537648.1_Missense_Mutation_p.V531A|RP11-380F14.2_ENST00000419815.1_RNA	p.V600A	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			16	1848	-			600					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.1799T>C	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626136	0.28978	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.06849	3.25;3.25	6.03	3.65	0.41850	Na dependent nucleoside transporter, C-terminal (1);	0.913540	0.09491	N	0.794885	T	0.09512	0.0234	L	0.38692	1.165	0.18873	N	0.999988	B	0.09022	0.002	B	0.23574	0.047	T	0.37430	-0.9706	10	0.42905	T	0.14	-2.5847	10.6305	0.45534	0.8695:0.0:0.1305:0.0	.	600	Q9HAS3	S28A3_HUMAN	A	600;531	ENSP00000365413:V600A;ENSP00000446438:V531A	ENSP00000365413:V600A	V	-	2	0	SLC28A3	86084739	0.000000	0.05858	0.024000	0.17045	0.363000	0.29612	0.426000	0.21363	0.503000	0.28060	0.455000	0.32223	GTG		0.587	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		11	23	0	0	0	1	0	11	23				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			44	9	0	0	0	1	0	44	9				
SUV39H1	6839	broad.mit.edu	37	X	48558921	48558921	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:48558921A>C	ENST00000376687.3	+	3	795	c.605A>C	c.(604-606)aAg>aCg	p.K202T	SUV39H1_ENST00000453214.2_Intron|SUV39H1_ENST00000337852.6_Missense_Mutation_p.K213T|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	202	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCACTGCACAAGTTTGCCTAC	0.652																																						ENST00000376687.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(604-606)aAg>aCg		suppressor of variegation 3-9 homolog 1 (Drosophila)							54.0	46.0	49.0					X																	48558921		2203	4299	6502	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48558921A>C	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.605A>C	X.37:g.48558921A>C	ENSP00000365877:p.Lys202Thr					SUV39H1_ENST00000337852.6_Missense_Mutation_p.K213T|SUV39H1_ENST00000453214.2_Intron|AF196970.3_ENST00000416061.1_RNA	p.K202T	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN			3	795	+			202			Pre-SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.605A>C	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.38|15.38	2.815388|2.815388	0.50527|0.50527	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000422496|ENST00000448548	T;T|.	0.76968|.	-1.06;-1.06|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);|.	0.077844|.	0.53938|.	D|.	0.000049|.	T|T	0.58680|0.58680	0.2139|0.2139	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	B;B|.	0.12630|.	0.006;0.006|.	B;B|.	0.18263|.	0.021;0.02|.	T|T	0.53627|0.53627	-0.8412|-0.8412	10|6	0.15952|0.15952	T|T	0.53|0.53	.|.	11.7346|11.7346	0.51757|0.51757	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	213;202|.	B4DST0;O43463|.	.;SUV91_HUMAN|.	T|R	213;202;60|199	ENSP00000337976:K213T;ENSP00000365877:K202T|.	ENSP00000337976:K213T|ENSP00000410043:S199R	K|S	+|+	2|1	0|0	SUV39H1|SUV39H1	48443865|48443865	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	1.486000|1.486000	0.35530|0.35530	1.671000|1.671000	0.50874|0.50874	0.478000|0.478000	0.44815|0.44815	AAG|AGT		0.652	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		22	46	0	0	0	1	0	22	46				
ADAM12	8038	broad.mit.edu	37	10	127724804	127724804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:127724804G>A	ENST00000368679.4	-	21	2758	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	817					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R817*(2)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGAAGCACTCGCTGAGTTGAC	0.597																																						ENST00000368679.4																			2	Substitution - Nonsense(2)	p.R817*(2)	liver(2)	biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2449-2451)Cga>Tga		ADAM metallopeptidase domain 12							99.0	97.0	98.0					10																	127724804		2203	4300	6503	SO:0001587	stop_gained	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127724804G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2449C>T	10.37:g.127724804G>A	ENSP00000357668:p.Arg817*						p.R817*	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	21	2758	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	817					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Nonsense_Mutation	SNP	ENST00000368679.4	37	c.2449C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	39	7.512078	0.98329	.	.	ENSG00000148848	ENST00000368679	.	.	.	5.13	3.2	0.36748	.	0.248901	0.25842	N	0.027959	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	12.8207	0.57692	0.0:0.0:0.57:0.43	.	.	.	.	X	817	.	ENSP00000357668:R817X	R	-	1	2	ADAM12	127714794	0.972000	0.33761	0.960000	0.40013	0.222000	0.24845	0.947000	0.29082	0.620000	0.30215	-0.181000	0.13052	CGA		0.597	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			31	44	0	0	0	1	0	31	44				
FGD6	55785	broad.mit.edu	37	12	95531317	95531317	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:95531317G>A	ENST00000343958.4	-	7	3198	c.2975C>T	c.(2974-2976)gCt>gTt	p.A992V	FGD6_ENST00000549499.1_Missense_Mutation_p.A992V|FGD6_ENST00000546711.1_Missense_Mutation_p.A992V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	992	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.			A -> T (in Ref. 2; AAH13319). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTAACAACAGCAGCAAAACC	0.328																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2974-2976)gCt>gTt		FYVE, RhoGEF and PH domain containing 6							127.0	119.0	122.0					12																	95531317		2203	4299	6502	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95531317G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2975C>T	12.37:g.95531317G>A	ENSP00000344446:p.Ala992Val					FGD6_ENST00000546711.1_Missense_Mutation_p.A992V|FGD6_ENST00000549499.1_Missense_Mutation_p.A992V	p.A992V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			7	3198	-			992	A -> T (in Ref. 2; AAH13319).		DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2975C>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566668	0.65651	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.64991	-0.13;-0.13;-0.13	4.98	4.98	0.66077	Dbl homology (DH) domain (5);	0.299817	0.24094	N	0.041611	T	0.71929	0.3398	M	0.65975	2.015	0.39660	D	0.970609	P;P	0.45768	0.581;0.866	B;P	0.51170	0.287;0.661	T	0.75028	-0.3462	10	0.49607	T	0.09	-1.5707	18.6143	0.91296	0.0:0.0:1.0:0.0	.	992;992	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	V	992	ENSP00000344446:A992V;ENSP00000450342:A992V;ENSP00000449005:A992V	ENSP00000344446:A992V	A	-	2	0	FGD6	94055448	1.000000	0.71417	0.945000	0.38365	0.793000	0.44817	5.036000	0.64164	2.477000	0.83638	0.561000	0.74099	GCT		0.328	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		21	33	0	0	0	1	0	21	33				
NRG1	3084	broad.mit.edu	37	8	32505335	32505335	+	Intron	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:32505335G>A	ENST00000405005.3	+	5	502				NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520502.2_Silent_p.P33P|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000519301.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATGGGCTTCCGGCAGCAGAAG	0.622																																						ENST00000520502.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(97-99)ccG>ccA		neuregulin 1							38.0	37.0	37.0					8																	32505335		2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32505335G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+30932G>A	8.37:g.32505335G>A						NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000341377.5_Intron	p.P33P	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	99	+		Breast(100;0.203)	0					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.99G>A	CCDS6085.1																																																																																				0.622	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			18	34	0	0	0	1	0	18	34				
OR52I2	143502	broad.mit.edu	37	11	4608812	4608812	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:4608812G>A	ENST00000312614.4	+	1	792	c.770G>A	c.(769-771)gGt>gAt	p.G257D		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGTATTTGGTCTCTCCTCA	0.473																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(769-771)gGt>gAt		olfactory receptor, family 52, subfamily I, member 2							191.0	188.0	189.0					11																	4608812		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608812G>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.770G>A	11.37:g.4608812G>A	ENSP00000308764:p.Gly257Asp						p.G257D	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	792	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	257					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.770G>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	8.678	0.904516	0.17760	.	.	ENSG00000226288	ENST00000312614	T	0.37584	1.19	4.17	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.706131	0.12362	N	0.475516	T	0.41026	0.1141	M	0.81179	2.53	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.40534	-0.9558	10	0.66056	D	0.02	2.7296	8.9416	0.35733	0.1064:0.0:0.8936:0.0	.	257	Q8NH67	O52I2_HUMAN	D	257	ENSP00000308764:G257D	ENSP00000308764:G257D	G	+	2	0	OR52I2	4565388	0.000000	0.05858	0.066000	0.19879	0.978000	0.69477	-0.011000	0.12721	0.990000	0.38787	0.638000	0.83543	GGT		0.473	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		42	69	0	0	0	1	0	42	69				
C2orf54	79919	broad.mit.edu	37	2	241829466	241829466	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:241829466G>A	ENST00000388934.4	-	3	1008	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	C2orf54_ENST00000402775.2_Missense_Mutation_p.R116C|C2orf54_ENST00000307486.8_Missense_Mutation_p.R135C	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	284										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCACTGTCACGCCAGCTCTCG	0.662																																						ENST00000307486.8																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(403-405)Cgt>Tgt		chromosome 2 open reading frame 54							46.0	56.0	52.0					2																	241829466		2087	4211	6298	SO:0001583	missense	79919							g.chr2:241829466G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.850C>T	2.37:g.241829466G>A	ENSP00000373586:p.Arg284Cys					C2orf54_ENST00000402775.2_Missense_Mutation_p.R116C|C2orf54_ENST00000388934.4_Missense_Mutation_p.R284C	p.R135C			Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	3	501	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	284					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	c.403C>T	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	G	5.326	0.245500	0.10077	.	.	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.12569	2.67;2.67;2.67	3.73	-2.53	0.06326	.	0.804514	0.10184	N	0.705528	T	0.10252	0.0251	L	0.45581	1.43	0.26476	N	0.975192	B;B;B	0.19073	0.033;0.033;0.015	B;B;B	0.13407	0.009;0.009;0.005	T	0.36138	-0.9760	10	0.87932	D	0	-0.0959	3.0594	0.06195	0.1067:0.1075:0.2693:0.5166	.	284;135;116	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	C	116;135;284	ENSP00000385338:R116C;ENSP00000302779:R135C;ENSP00000373586:R284C	ENSP00000302779:R135C	R	-	1	0	C2orf54	241478139	0.012000	0.17670	0.099000	0.21106	0.088000	0.18126	-0.238000	0.08977	-0.330000	0.08514	0.555000	0.69702	CGT		0.662	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		20	37	0	0	0	1	0	20	37				
PLEKHS1	79949	broad.mit.edu	37	10	115540379	115540379	+	Missense_Mutation	SNP	G	G	A	rs370338009		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:115540379G>A	ENST00000354462.3	+	6	594	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	PLEKHS1_ENST00000369312.4_Missense_Mutation_p.G314S|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.G230S|PLEKHS1_ENST00000361048.1_3'UTR			Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	410																	GCTTACCATCGGCAGGATCCC	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21441	0.0		0.0	False		,,,				2504	0.0					ENST00000354462.3																			0											c.(436-438)Ggc>Agc		pleckstrin homology domain containing, family S member 1		G	SER/GLY,SER/GLY,	0,4406		0,0,2203	110.0	104.0	106.0		940,940,	1.4	0.2	10		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3	C10orf81	NM_001193434.1,NM_001193435.1,NM_024889.4	56,56,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	314/367,314/367,	115540379	1,13005	2203	4300	6503	SO:0001583	missense	79949							g.chr10:115540379G>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000354462.3:c.436G>A	10.37:g.115540379G>A	ENSP00000346451:p.Gly146Ser					PLEKHS1_ENST00000369312.4_Missense_Mutation_p.G314S|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.G230S|PLEKHS1_ENST00000361048.1_3'UTR	p.G146S							6	594	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000354462.3	37	c.436G>A		.	.	.	.	.	.	.	.	.	.	G	12.49	1.955007	0.34471	0.0	1.16E-4	ENSG00000148735	ENST00000369312;ENST00000369309;ENST00000354462	T;T;T	0.30714	1.52;1.52;1.52	5.49	1.37	0.22104	.	.	.	.	.	T	0.39145	0.1067	L	0.59436	1.845	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.69824	0.878;0.966	T	0.32052	-0.9921	9	0.15499	T	0.54	.	1.8211	0.03111	0.1801:0.158:0.4991:0.1629	.	410;396	Q5SXH7;Q5SXH7-2	CJ081_HUMAN;.	S	314;230;146	ENSP00000358318:G314S;ENSP00000358315:G230S;ENSP00000346451:G146S	ENSP00000346451:G146S	G	+	1	0	C10orf81	115530369	0.006000	0.16342	0.232000	0.24009	0.421000	0.31385	0.514000	0.22786	0.812000	0.34326	-0.140000	0.14226	GGC		0.403	PLEKHS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050431.2	NM_024889		20	33	0	0	0	1	0	20	33				
PDGFRB	5159	broad.mit.edu	37	5	149497300	149497300	+	Silent	SNP	G	G	A	rs2229559	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:149497300G>A	ENST00000261799.4	-	22	3487	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1006					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATAGAGGACGGAGCTGGTGT	0.617			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(3016-3018)tcC>tcT		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						93.0	93.0	93.0					5																	149497300		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149497300G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3018C>T	5.37:g.149497300G>A							p.S1006S	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3487	-		all_hematologic(541;0.224)	1006					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.3018C>T	CCDS4303.1																																																																																				0.617	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		24	47	0	0	0	1	0	24	47				
PPP2R1A	5518	broad.mit.edu	37	19	52716212	52716212	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:52716212C>T	ENST00000322088.6	+	6	714	c.656C>T	c.(655-657)tCg>tTg	p.S219L	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	219	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCTAGGACTCGGTGCGGCTG	0.647			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(655-657)tCg>tTg		protein phosphatase 2, regulatory subunit A, alpha							40.0	39.0	39.0					19																	52716212		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716212C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.656C>T	19.37:g.52716212C>T	ENSP00000324804:p.Ser219Leu					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L	p.S219L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	714	+			219			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.656C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974548	0.92919	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.05580	3.42;3.42	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.51477	D	0.000081	T	0.32645	0.0836	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;P;P	0.66602	0.945;0.608;0.608	T	0.43556	-0.9384	10	0.87932	D	0	-12.1764	15.3348	0.74244	0.0:1.0:0.0:0.0	.	164;219;219	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	209;139;219;164	ENSP00000324804:S219L;ENSP00000415067:S164L	ENSP00000324804:S219L	S	+	2	0	PPP2R1A	57408024	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	4.989000	0.63870	2.550000	0.86006	0.655000	0.94253	TCG		0.647	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		22	22	0	0	0	1	0	22	22				
CDX2	1045	broad.mit.edu	37	13	28537414	28537414	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr13:28537414C>T	ENST00000381020.7	-	3	2912	c.780G>A	c.(778-780)ccG>ccA	p.P260P	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	260	Poly-Pro.				anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GCGGCGGAGGCGGCTGTGGTG	0.567			T	ETV6	AML																																	ENST00000381020.7				Dom	yes		13	13q12.3	1045	T	caudal type homeo box transcription factor 2			L	ETV6		AML		0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(778-780)ccG>ccA		caudal type homeobox 2							68.0	51.0	57.0					13																	28537414		2203	4300	6503	SO:0001819	synonymous_variant	1045				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28537414C>T	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.780G>A	13.37:g.28537414C>T						CDX2_ENST00000548877.1_5'UTR	p.P260P	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	3	2912	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	260			Poly-Pro.		O00503|Q5VTU7|Q969L8|Q9UD92	Silent	SNP	ENST00000381020.7	37	c.780G>A	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	C	1.912	-0.450431	0.04572	.	.	ENSG00000165556	ENST00000548877	.	.	.	3.95	2.17	0.27698	.	.	.	.	.	T	0.53738	0.1815	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42189	-0.9466	4	.	.	.	-1.6494	5.8304	0.18577	0.1809:0.509:0.3101:0.0	.	.	.	.	H	103	.	.	R	-	2	0	CDX2	27435414	0.894000	0.30519	0.265000	0.24526	0.173000	0.22820	0.000000	0.12993	0.293000	0.22520	0.609000	0.83330	CGC		0.567	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			25	23	0	0	0	1	0	25	23				
SMOC1	64093	broad.mit.edu	37	14	70346406	70346406	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr14:70346406C>A	ENST00000381280.4	+	1	264	c.11C>A	c.(10-12)gCg>gAg	p.A4E	SMOC1_ENST00000361956.3_Missense_Mutation_p.A4E|SMOC1_ENST00000555917.1_Intron	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	4					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATGCTGCCCGCGCGCTGCGCC	0.751																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(10-12)gCg>gAg		SPARC related modular calcium binding 1							5.0	6.0	6.0					14																	70346406		2073	4083	6156	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70346406C>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.11C>A	14.37:g.70346406C>A	ENSP00000370680:p.Ala4Glu					SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A4E	p.A4E	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	1	264	+			4					A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.11C>A	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	c	9.665	1.145224	0.21288	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.56941	0.43;0.43	5.1	3.23	0.37069	.	1.963980	0.02586	N	0.099477	T	0.32823	0.0842	N	0.08118	0	0.28043	N	0.933671	B;B	0.30281	0.275;0.039	B;B	0.26202	0.067;0.02	T	0.30707	-0.9969	10	0.27082	T	0.32	-8.8282	6.2112	0.20630	0.0:0.6484:0.244:0.1076	.	4;4	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	E	4	ENSP00000355110:A4E;ENSP00000370680:A4E	ENSP00000355110:A4E	A	+	2	0	SMOC1	69416159	0.997000	0.39634	1.000000	0.80357	0.067000	0.16453	0.404000	0.20999	1.169000	0.42739	-0.665000	0.03846	GCG		0.751	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			6	3	1	0	3.59834e-05	1	3.66038e-05	6	3				
MAGEB6	158809	broad.mit.edu	37	X	26212339	26212339	+	Missense_Mutation	SNP	G	G	A	rs376873999		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:26212339G>A	ENST00000379034.1	+	2	525	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	126	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAAATATGATGTGGCTGCCAA	0.557																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(376-378)Gtg>Atg		melanoma antigen family B, 6		G	MET/VAL	1,3832		0,0,1,1631,570	85.0	77.0	80.0		376	1.1	0.0	X		80	0,6728		0,0,0,2428,1872	no	missense	MAGEB6	NM_173523.2	21	0,0,1,4059,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign	126/408	26212339	1,10560	2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212339G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.376G>A	X.37:g.26212339G>A	ENSP00000368320:p.Val126Met						p.V126M	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	525	+			126			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.376G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	4.685	0.127426	0.08981	2.61E-4	0.0	ENSG00000176746	ENST00000379034	T	0.01933	4.55	1.11	1.11	0.20524	.	.	.	.	.	T	0.01695	0.0054	N	0.24115	0.695	0.09310	N	1	B	0.18013	0.025	B	0.06405	0.002	T	0.46331	-0.9199	9	0.33141	T	0.24	.	5.2065	0.15293	0.0:0.0:1.0:0.0	.	126	Q8N7X4	MAGB6_HUMAN	M	126	ENSP00000368320:V126M	ENSP00000368320:V126M	V	+	1	0	MAGEB6	26122260	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.044000	0.12023	0.832000	0.34804	0.363000	0.22086	GTG		0.557	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		48	71	0	0	0	1	0	48	71				
PCDHA2	56146	broad.mit.edu	37	5	140176114	140176114	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:140176114C>T	ENST00000526136.1	+	1	1565	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L	PCDHA2_ENST00000378132.1_Missense_Mutation_p.P522L|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P522L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGCAGCCGCTGGACCAC	0.687																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1564-1566)cCg>cTg									58.0	64.0	62.0					5																	140176114		2202	4292	6494	SO:0001583	missense	0							g.chr5:140176114C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1565C>T	5.37:g.140176114C>T	ENSP00000431748:p.Pro522Leu					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P522L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P522L|PCDHA1_ENST00000504120.2_Intron	p.P522L	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1565	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1565C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	17.87	3.494154	0.64186	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.56275	0.47;0.47;0.47	3.88	3.88	0.44766	Cadherin (5);Cadherin-like (1);	0.000000	0.39615	U	0.001313	T	0.67221	0.2870	L	0.51853	1.615	0.33889	D	0.637124	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.975;0.996;0.975	T	0.78523	-0.2171	10	0.87932	D	0	.	16.2852	0.82717	0.0:1.0:0.0:0.0	.	522;522;522	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	522	ENSP00000430584:P522L;ENSP00000367372:P522L;ENSP00000431748:P522L	ENSP00000367372:P522L	P	+	2	0	PCDHA2	140156298	0.079000	0.21365	1.000000	0.80357	0.997000	0.91878	3.717000	0.54911	1.903000	0.55091	0.644000	0.83932	CCG		0.687	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		149	114	0	0	0	1	0	149	114				
ZFHX4	79776	broad.mit.edu	37	8	77766792	77766792	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:77766792G>A	ENST00000521891.2	+	10	8083	c.7635G>A	c.(7633-7635)ccG>ccA	p.P2545P	ZFHX4_ENST00000050961.6_Silent_p.P2500P|ZFHX4_ENST00000455469.2_Silent_p.P2500P|ZFHX4_ENST00000518282.1_Silent_p.P2519P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P2529P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAACAATCCGCTGATGACTG	0.537										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - coding silent(1)	p.P2529P(1)	lung(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7633-7635)ccG>ccA		zinc finger homeobox 4							113.0	111.0	112.0					8																	77766792		1974	4152	6126	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766792G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7635G>A	8.37:g.77766792G>A		HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Silent_p.P2500P|ZFHX4_ENST00000455469.2_Silent_p.P2500P|ZFHX4_ENST00000518282.1_Silent_p.P2519P	p.P2545P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8083	+			2500					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7635G>A	CCDS47878.2																																																																																				0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		46	84	0	0	0	1	0	46	84				
ARHGEF25	115557	broad.mit.edu	37	12	58009072	58009072	+	Missense_Mutation	SNP	C	C	T	rs542655828		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:58009072C>T	ENST00000286494.4	+	11	1473	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.T377M|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	338						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GATATGATGACGCTGGGGAGA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19205	0.0		0.0	False		,,,				2504	0.001					ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1012-1014)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 25							54.0	47.0	49.0					12																	58009072		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58009072C>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1013C>T	12.37:g.58009072C>T	ENSP00000286494:p.Thr338Met					AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.T377M|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA	p.T338M	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			11	1473	+			338					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1013C>T	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	c	17.00	3.276562	0.59758	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.68624	-0.34;-0.34	4.48	1.25	0.21368	Dbl homology (DH) domain (1);	0.216565	0.23585	N	0.046604	T	0.36276	0.0961	N	0.05124	-0.11	0.30075	N	0.809677	B;B	0.32862	0.387;0.008	B;B	0.19148	0.024;0.007	T	0.39781	-0.9597	10	0.87932	D	0	.	6.8386	0.23951	0.3254:0.357:0.3177:0.0	.	377;338	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	M	377;338	ENSP00000335560:T377M;ENSP00000286494:T338M	ENSP00000286494:T338M	T	+	2	0	ARHGEF25	56295339	0.998000	0.40836	0.993000	0.49108	0.994000	0.84299	3.642000	0.54367	0.569000	0.29329	0.561000	0.74099	ACG		0.562	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		16	33	0	0	0	1	0	16	33				
LOC102546299	102546299	broad.mit.edu	37	5	164028103	164028103	+	RNA	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:164028103C>T	ENST00000486913.3	+	0	281				CTC-340A15.2_ENST00000519750.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA																							TCGCCCAGGTCGTGGCCGATC	0.597																																						ENST00000486913.3																			0																																																			0							g.chr5:164028103C>T																													5.37:g.164028103C>T						CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA								0	281	+									RNA	SNP	ENST00000486913.3	37																																																																																						0.597	CTC-340A15.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000370926.1			4	9	0	0	0	1	0	4	9				
SLC35A2	7355	broad.mit.edu	37	X	48762195	48762195	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:48762195C>T	ENST00000247138.5	-	4	994	c.991G>A	c.(991-993)Gtc>Atc	p.V331I	SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376521.1_Missense_Mutation_p.V331I|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000413561.2_Missense_Mutation_p.V270I|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V359I	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	331			V -> I (in CDG2M). {ECO:0000269|PubMed:23561849}.		galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GCACCAATGACGAGTCCAGCG	0.612																																						ENST00000376521.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						c.(991-993)Gtc>Atc		solute carrier family 35 (UDP-galactose transporter), member A2							69.0	54.0	59.0					X																	48762195		2203	4300	6503	SO:0001583	missense	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48762195C>T	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.991G>A	X.37:g.48762195C>T	ENSP00000247138:p.Val331Ile					SLC35A2_ENST00000413561.2_Missense_Mutation_p.V270I|SLC35A2_ENST00000247138.5_Missense_Mutation_p.V331I|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V359I|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376529.3_Intron	p.V331I	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN			4	1312	-			331					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	c.991G>A	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370824	0.82573	.	.	ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	T	0.77075	0.4077	M	0.81614	2.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.998	D;D;D;D;D	0.91635	0.972;0.999;0.999;0.999;0.956	T	0.79981	-0.1574	10	0.62326	D	0.03	-24.2404	15.1454	0.72647	0.0:1.0:0.0:0.0	.	270;359;344;331;331	B4DE11;E7EW45;B4DE15;P78381-2;P78381	.;.;.;.;S35A2_HUMAN	I	331;331;270;359	ENSP00000247138:V331I;ENSP00000365704:V331I;ENSP00000393233:V270I;ENSP00000416002:V359I	ENSP00000247138:V331I	V	-	1	0	SLC35A2	48647139	0.999000	0.42202	0.941000	0.38009	0.993000	0.82548	4.194000	0.58393	2.280000	0.76307	0.600000	0.82982	GTC		0.612	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		10	20	0	0	0	1	0	10	20				
STK16	8576	broad.mit.edu	37	2	220112473	220112473	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:220112473T>A	ENST00000409638.3	+	6	823	c.651T>A	c.(649-651)gaT>gaA	p.D217E	STK16_ENST00000409516.3_Missense_Mutation_p.D99E|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000396738.2_Missense_Mutation_p.D217E|GLB1L_ENST00000356283.3_5'Flank|GLB1L_ENST00000392089.2_5'Flank|TUBA4A_ENST00000498660.1_5'Flank|STK16_ENST00000409260.1_Missense_Mutation_p.D262E|STK16_ENST00000409743.1_Intron	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGGACTGATGTCTGGGTGA	0.587																																					Pancreas(34;887 922 17165 36961 39622)	ENST00000409638.3																			0				skin(1)	1						c.(649-651)gaT>gaA		serine/threonine kinase 16							54.0	50.0	51.0					2																	220112473		2060	4206	6266	SO:0001583	missense	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220112473T>A	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.651T>A	2.37:g.220112473T>A	ENSP00000386928:p.Asp217Glu					STK16_ENST00000409260.1_Missense_Mutation_p.D262E|STK16_ENST00000409743.1_Intron|STK16_ENST00000396738.2_Missense_Mutation_p.D217E|STK16_ENST00000409516.3_Missense_Mutation_p.D99E	p.D217E	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	823	+		Renal(207;0.0474)	217			Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	c.651T>A	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.689427	0.68271	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260	T;T;D;D	0.94232	-0.81;-0.81;-3.38;-3.38	5.28	1.76	0.24704	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97558	0.9200	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.972	D	0.97264	0.9906	10	0.87932	D	0	-15.6283	11.5759	0.50860	0.0:0.1159:0.0:0.8841	.	99;262;217	B4DPS1;B8ZZN3;O75716	.;.;STK16_HUMAN	E	217;217;99;262	ENSP00000386928:D217E;ENSP00000379964:D217E;ENSP00000386309:D99E;ENSP00000387156:D262E	ENSP00000379964:D217E	D	+	3	2	STK16	219820717	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	0.136000	0.15974	0.486000	0.27676	0.533000	0.62120	GAT		0.587	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			5	4	0	0	0	1	0	5	4				
STAT3	6774	broad.mit.edu	37	17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:40481653A>C	ENST00000264657.5	-	13	1464	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L|STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	384			F -> L (in AD-HIES). {ECO:0000269|PubMed:17881745}.|F -> S (in AD-HIES). {ECO:0000269|PubMed:17881745}.		acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCAGAATGTTAAATTTCCGGG	0.458									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	GRCh37	CM086679	STAT3	M		c.(1150-1152)ttT>ttG		signal transducer and activator of transcription 3 (acute-phase response factor)							123.0	120.0	121.0					17																	40481653		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40481653A>C	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1152T>G	17.37:g.40481653A>C	ENSP00000264657:p.Phe384Leu					STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L	p.F384L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	13	1464	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	384		F -> L (in AD-HIES).|F -> S (in AD-HIES).			A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1152T>G	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479818	0.84747	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88124	-2.34;-2.34;-2.34	5.84	3.31	0.37934	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92028	0.7474	M	0.83223	2.63	0.58432	D	0.99999	D;D;D	0.63880	0.992;0.993;0.993	D;D;D	0.74348	0.971;0.983;0.983	D	0.90146	0.4217	10	0.33940	T	0.23	-22.0865	9.2746	0.37692	0.7788:0.0:0.2212:0.0	.	384;384;384	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	L	384;286;384	ENSP00000264657:F384L;ENSP00000373923:F286L;ENSP00000384943:F384L	ENSP00000264657:F384L	F	-	3	2	STAT3	37735179	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.717000	0.37991	1.051000	0.40369	0.533000	0.62120	TTT		0.458	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		36	39	0	0	0	1	0	36	39				
KCNS2	3788	broad.mit.edu	37	8	99441462	99441462	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:99441462C>T	ENST00000287042.4	+	2	1605	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	KCNS2_ENST00000521839.1_Missense_Mutation_p.R419C	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	419					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R419C(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTTTACCGGCGCCAAAAGCA	0.512																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			1	Substitution - Missense(1)	p.R419C(1)	breast(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(1255-1257)Cgc>Tgc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							117.0	116.0	116.0					8																	99441462		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441462C>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1255C>T	8.37:g.99441462C>T	ENSP00000287042:p.Arg419Cys					KCNS2_ENST00000521839.1_Missense_Mutation_p.R419C	p.R419C	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1605	+	Breast(36;2.4e-06)		419					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.1255C>T	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207281	0.39003	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96967	-4.19;-4.19	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	L	0.42245	1.32	0.54753	D	0.999982	D	0.76494	0.999	P	0.48677	0.586	D	0.95816	0.8845	10	0.87932	D	0	.	18.8245	0.92111	0.0:1.0:0.0:0.0	.	419	Q9ULS6	KCNS2_HUMAN	C	419	ENSP00000287042:R419C;ENSP00000430712:R419C	ENSP00000287042:R419C	R	+	1	0	KCNS2	99510638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.061000	0.57485	2.884000	0.98904	0.655000	0.94253	CGC		0.512	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		47	101	0	0	0	1	0	47	101				
DCP2	167227	broad.mit.edu	37	5	112312615	112312615	+	De_novo_Start_InFrame	SNP	G	G	A	rs2416298		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:112312615G>A	ENST00000389063.2	+	0	183				DCP2_ENST00000504961.1_3'UTR|DCP2_ENST00000515408.1_De_novo_Start_InFrame|DCP2_ENST00000543319.1_De_novo_Start_OutOfFrame	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CACTGTTCCTGCTGTGGGTCC	0.682																																						ENST00000543319.1																			0				endometrium(3)|large_intestine(6)|lung(1)	10								decapping mRNA 2							112.0	116.0	114.0					5																	112312615		2202	4300	6502			167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112312615G>A	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853		5.37:g.112312615G>A						DCP2_ENST00000504961.1_3'UTR|DCP2_ENST00000515408.1_De_novo_Start_InFrame|DCP2_ENST00000389063.2_De_novo_Start_InFrame				Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	0	137	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)						C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Translation_Start_Site	SNP	ENST00000389063.2	37		CCDS34210.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647862	0.67358	.	.	ENSG00000172795	ENST00000513585	.	.	.	4.52	3.56	0.40772	.	.	.	.	.	T	0.55878	0.1948	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51020	-0.8758	4	.	.	.	.	6.9943	0.24774	0.144:0.0:0.856:0.0	.	.	.	.	Y	70	.	.	C	+	2	0	DCP2	112340514	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.589000	0.46145	0.974000	0.38366	0.561000	0.74099	TGC		0.682	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		52	86	0	0	0	1	0	52	86				
HIST1H2AL	8332	broad.mit.edu	37	6	27833147	27833147	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:27833147C>T	ENST00000357320.2	+	1	114	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	5						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CGGGACGCGGCAAGCAGGGAG	0.587																																						ENST00000357320.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						c.(13-15)ggC>ggT		histone cluster 1, H2al							83.0	93.0	89.0					6																	27833147		2203	4300	6503	SO:0001819	synonymous_variant	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833147C>T	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.15C>T	6.37:g.27833147C>T							p.G5G	NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN			1	114	+			5					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000357320.2	37	c.15C>T	CCDS4634.1																																																																																				0.587	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		45	76	0	0	0	1	0	45	76				
CD36	948	broad.mit.edu	37	7	80290415	80290415	+	Silent	SNP	C	C	T	rs146796766		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:80290415C>T	ENST00000435819.1	+	8	1002	c.318C>T	c.(316-318)gaC>gaT	p.D106D	CD36_ENST00000432207.1_Silent_p.D106D|CD36_ENST00000538969.1_Silent_p.D106D|CD36_ENST00000534394.1_Silent_p.D30D|CD36_ENST00000544133.1_Silent_p.D106D|CD36_ENST00000309881.7_Silent_p.D106D|CD36_ENST00000447544.2_Silent_p.D106D|CD36_ENST00000433696.2_Silent_p.D106D|CD36_ENST00000394788.3_Silent_p.D106D			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	106	Required for interaction with thrombospondins, THBS1 and THBS2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAACCCAGGACGCTGAGGACA	0.408																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(316-318)gaC>gaT		CD36 molecule (thrombospondin receptor)		C	,,,,	0,4406		0,0,2203	130.0	115.0	120.0		318,318,318,318,318	2.4	0.1	7	dbSNP_134	120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD36	NM_000072.3,NM_001001547.2,NM_001001548.2,NM_001127443.1,NM_001127444.1	,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,	106/473,106/473,106/473,106/473,106/473	80290415	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80290415C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.318C>T	7.37:g.80290415C>T						CD36_ENST00000447544.2_Silent_p.D106D|CD36_ENST00000394788.3_Silent_p.D106D|CD36_ENST00000309881.7_Silent_p.D106D|CD36_ENST00000534394.1_Silent_p.D30D|CD36_ENST00000432207.1_Silent_p.D106D|CD36_ENST00000538969.1_Silent_p.D106D|CD36_ENST00000544133.1_Silent_p.D106D|CD36_ENST00000433696.2_Silent_p.D106D	p.D106D			P16671	CD36_HUMAN			8	1002	+			106			Required for interaction with thrombospondins, THBS1 and THBS2.		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	ENST00000435819.1	37	c.318C>T	CCDS34673.1																																																																																				0.408	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		18	43	0	0	0	1	0	18	43				
APOB	338	broad.mit.edu	37	2	21256329	21256329	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:21256329G>A	ENST00000233242.1	-	9	1093	c.966C>T	c.(964-966)gcC>gcT	p.A322A	APOB_ENST00000399256.4_Silent_p.A322A	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	322	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACAGCTTCGGCCTGCTTTG	0.438																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(964-966)gcC>gcT		apolipoprotein B	Atorvastatin(DB01076)						180.0	172.0	175.0					2																	21256329		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21256329G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.966C>T	2.37:g.21256329G>A						APOB_ENST00000399256.4_Silent_p.A322A	p.A322A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			9	1093	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		322			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.966C>T	CCDS1703.1																																																																																				0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			39	52	0	0	0	1	0	39	52				
FLNA	2316	broad.mit.edu	37	X	153581007	153581007	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:153581007C>T	ENST00000369850.3	-	40	6652	c.6416G>A	c.(6415-6417)cGg>cAg	p.R2139Q	FLNA_ENST00000360319.4_Missense_Mutation_p.R2131Q|FLNA_ENST00000369856.3_Missense_Mutation_p.R272Q|FLNA_ENST00000344736.4_Missense_Mutation_p.R2099Q|FLNA_ENST00000422373.1_Missense_Mutation_p.R2131Q|FLNA_ENST00000498491.1_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2139					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTTTCACCCGGCCCTCGCC	0.617																																						ENST00000422373.1																			0				breast(6)	6						c.(6391-6393)cGg>cAg		filamin A, alpha							35.0	36.0	36.0					X																	153581007		1973	4129	6102	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581007C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6416G>A	X.37:g.153581007C>T	ENSP00000358866:p.Arg2139Gln					FLNA_ENST00000360319.4_Missense_Mutation_p.R2131Q|FLNA_ENST00000344736.4_Missense_Mutation_p.R2099Q|FLNA_ENST00000369856.3_Missense_Mutation_p.R272Q|FLNA_ENST00000369850.3_Missense_Mutation_p.R2139Q	p.R2131Q	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			39	6640	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2139					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.6392G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516131	0.85495	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;T;D	0.86627	-2.13;-2.13;-2.12;-0.87;-2.15	5.64	4.78	0.61160	Immunoglobulin E-set (1);	0.000000	0.64402	D	0.000001	T	0.79358	0.4432	L	0.33485	1.01	0.49687	D	0.999816	P;P;D;D	0.61697	0.95;0.611;0.99;0.99	B;B;B;B	0.37346	0.247;0.08;0.194;0.194	T	0.80091	-0.1527	10	0.52906	T	0.07	.	13.9849	0.64328	0.0:0.9253:0.0:0.0747	.	272;2131;2139;2139	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	Q	2131;2131;2139;272;2099	ENSP00000353467:R2131Q;ENSP00000416926:R2131Q;ENSP00000358866:R2139Q;ENSP00000358872:R272Q;ENSP00000358863:R2099Q	ENSP00000358863:R2099Q	R	-	2	0	FLNA	153234201	0.942000	0.31987	0.995000	0.50966	0.967000	0.64934	7.779000	0.85648	1.153000	0.42468	-0.305000	0.09177	CGG		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			25	37	0	0	0	1	0	25	37				
CSMD3	114788	broad.mit.edu	37	8	113254010	113254010	+	Silent	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:113254010A>G	ENST00000297405.5	-	66	10651	c.10407T>C	c.(10405-10407)ggT>ggC	p.G3469G	CSMD3_ENST00000343508.3_Silent_p.G3429G|CSMD3_ENST00000352409.3_Silent_p.G3399G|CSMD3_ENST00000455883.2_Silent_p.G3300G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3469						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATTTTAGAACCAGCTATGA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10405-10407)ggT>ggC		CUB and Sushi multiple domains 3							105.0	113.0	110.0					8																	113254010		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113254010A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10407T>C	8.37:g.113254010A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.G3429G|CSMD3_ENST00000352409.3_Silent_p.G3399G|CSMD3_ENST00000455883.2_Silent_p.G3300G	p.G3469G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			66	10651	-			3469					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10407T>C	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	47	0	0	0	1	0	26	47				
SLC6A9	6536	broad.mit.edu	37	1	44474144	44474144	+	Silent	SNP	G	G	A	rs200658319		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:44474144G>A	ENST00000360584.2	-	5	881	c.690C>T	c.(688-690)gcC>gcT	p.A230A	SLC6A9_ENST00000372310.3_Silent_p.A157A|SLC6A9_ENST00000372306.3_Silent_p.A157A|SLC6A9_ENST00000537678.1_Silent_p.A92A|SLC6A9_ENST00000357730.2_Silent_p.A176A|SLC6A9_ENST00000372307.3_Silent_p.A92A|SLC6A9_ENST00000475075.2_Silent_p.A46A|SLC6A9_ENST00000492434.2_5'Flank	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	230					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A230A(1)|p.A157A(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGTACACCGGCGCAGTCAT	0.607																																						ENST00000372310.3																			2	Substitution - coding silent(2)	p.A230A(1)|p.A157A(1)	lung(2)	endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(469-471)gcC>gcT		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)	G	,,	1,4405	2.1+/-5.4	0,1,2202	139.0	124.0	129.0		471,528,690	-7.9	0.0	1		129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC6A9	NM_001024845.1,NM_006934.2,NM_201649.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	157/634,176/653,230/707	44474144	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474144G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.690C>T	1.37:g.44474144G>A						SLC6A9_ENST00000372306.3_Silent_p.A157A|SLC6A9_ENST00000475075.2_Silent_p.A46A|SLC6A9_ENST00000372307.3_Silent_p.A92A|SLC6A9_ENST00000360584.2_Silent_p.A230A|SLC6A9_ENST00000537678.1_Silent_p.A92A|SLC6A9_ENST00000357730.2_Silent_p.A176A	p.A157A	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			5	636	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	230					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.471C>T	CCDS41317.1																																																																																				0.607	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		34	58	0	0	0	1	0	34	58				
CD28	940	broad.mit.edu	37	2	204571286	204571286	+	5'UTR	SNP	G	G	A	rs199561889		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:204571286G>A	ENST00000324106.8	+	0	16				CD28_ENST00000374478.4_5'Flank|CD28_ENST00000374481.3_5'UTR|CD28_ENST00000458610.2_Missense_Mutation_p.G14R	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule						apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GTGCCCTAAGGGGATGGTGGC	0.532																																						ENST00000458610.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(40-42)Ggg>Agg		CD28 molecule																																				SO:0001623	5_prime_UTR_variant	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204571286G>A	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.-134G>A	2.37:g.204571286G>A						CD28_ENST00000324106.7_5'UTR|CD28_ENST00000374481.3_5'UTR	p.G14R			P10747	CD28_HUMAN			1	40	+			0					A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.40G>A	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	G	5.636	0.302106	0.10678	.	.	ENSG00000178562	ENST00000458610	.	.	.	5.16	-2.4	0.06583	.	.	.	.	.	T	0.20455	0.0492	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	T	0.31223	-0.9951	5	0.22109	T	0.4	.	5.3204	0.15878	0.5419:0.0:0.3178:0.1403	.	.	.	.	R	14	.	ENSP00000393648:G14R	G	+	1	0	CD28	204279531	0.015000	0.18098	0.000000	0.03702	0.001000	0.01503	-0.324000	0.07986	-0.373000	0.07979	-1.008000	0.02478	GGG		0.532	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		3	9	0	0	0	1	0	3	9				
CHST12	55501	broad.mit.edu	37	7	2473140	2473140	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:2473140G>A	ENST00000258711.6	+	2	1001	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	289					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCTCGGCGCGCGAGGCCTTC	0.652																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(865-867)cGc>cAc		carbohydrate (chondroitin 4) sulfotransferase 12							43.0	45.0	44.0					7																	2473140		2202	4295	6497	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473140G>A	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.866G>A	7.37:g.2473140G>A	ENSP00000258711:p.Arg289His						p.R289H	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	1001	+		Ovarian(82;0.0253)	289					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.866G>A	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183472	0.21870	.	.	ENSG00000136213	ENST00000258711	T	0.74106	-0.81	5.27	4.38	0.52667	.	1.737820	0.03407	N	0.204206	T	0.66626	0.2808	L	0.32530	0.975	0.23673	N	0.997141	P	0.34615	0.459	B	0.19666	0.026	T	0.57825	-0.7744	10	0.48119	T	0.1	-6.0021	13.4009	0.60883	0.0759:0.0:0.9241:0.0	.	289	Q9NRB3	CHSTC_HUMAN	H	289	ENSP00000258711:R289H	ENSP00000258711:R289H	R	+	2	0	CHST12	2439666	0.995000	0.38212	0.794000	0.32065	0.913000	0.54294	2.682000	0.46934	1.221000	0.43506	0.462000	0.41574	CGC		0.652	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		35	35	0	0	0	1	0	35	35				
ITIH3	3699	broad.mit.edu	37	3	52833799	52833799	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:52833799G>A	ENST00000449956.2	+	9	943	c.937G>A	c.(937-939)Gat>Aat	p.D313N	ITIH3_ENST00000416872.2_Missense_Mutation_p.D313N|ITIH3_ENST00000465243.2_3'UTR	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	313	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AATCCTGGAAGATATGCAAGA	0.537																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(937-939)Gat>Aat		inter-alpha-trypsin inhibitor heavy chain 3							55.0	59.0	58.0					3																	52833799		1892	4131	6023	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52833799G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.937G>A	3.37:g.52833799G>A	ENSP00000415769:p.Asp313Asn					ITIH3_ENST00000465243.2_3'UTR|ITIH3_ENST00000416872.2_Missense_Mutation_p.D313N	p.D313N	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	9	943	+			313			VWFA.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.937G>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124393	0.77436	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	D;D	0.83673	-1.75;-1.75	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.043807	0.85682	D	0.000000	D	0.89966	0.6868	M	0.62266	1.93	0.51233	D	0.999913	D;D	0.89917	1.0;0.97	D;D	0.91635	0.999;0.919	D	0.89742	0.3934	10	0.54805	T	0.06	-31.425	17.9616	0.89087	0.0:0.0:1.0:0.0	.	313;313	E7ET33;Q06033	.;ITIH3_HUMAN	N	313;301;308;313;313	ENSP00000413922:D313N;ENSP00000415769:D313N	ENSP00000273291:D308N	D	+	1	0	ITIH3	52808839	1.000000	0.71417	0.111000	0.21465	0.271000	0.26615	6.990000	0.76225	2.775000	0.95449	0.655000	0.94253	GAT		0.537	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		5	15	0	0	0	1	0	5	15				
KIRREL3	84623	broad.mit.edu	37	11	126306737	126306737	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:126306737G>A	ENST00000525144.2	-	12	1770	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	KIRREL3_ENST00000525704.2_Silent_p.S507S|KIRREL3_ENST00000529097.2_Silent_p.S507S|KIRREL3_ENST00000416561.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	507	Ig-like C2-type 5.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S466S(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCTCAGTGTCGGAGCCGAAGC	0.607																																						ENST00000525144.2																			1	Substitution - coding silent(1)	p.S466S(1)	ovary(1)	central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1519-1521)tcC>tcT		kin of IRRE like 3 (Drosophila)							113.0	120.0	117.0					11																	126306737		2195	4297	6492	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126306737G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1521C>T	11.37:g.126306737G>A						KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000525704.2_Silent_p.S507S|KIRREL3_ENST00000529097.2_Silent_p.S507S	p.S507S	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	12	1770	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	507			Ig-like C2-type 5.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1521C>T	CCDS53723.1																																																																																				0.607	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		16	22	0	0	0	1	0	16	22				
GLB1L3	112937	broad.mit.edu	37	11	134179612	134179612	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:134179612G>A	ENST00000431683.2	+	11	1054	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	352					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTTCATGAACGGGGCCACATA	0.483																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1054-1056)Ggg>Agg		galactosidase, beta 1-like 3							79.0	76.0	77.0					11																	134179612		1926	4119	6045	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134179612G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1054G>A	11.37:g.134179612G>A	ENSP00000396615:p.Gly352Arg						p.G352R	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	11	1054	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	352					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1054G>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151499	0.78001	.	.	ENSG00000166105	ENST00000431683	D	0.98649	-5.05	4.76	4.76	0.60689	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.052976	0.85682	D	0.000000	D	0.99515	0.9827	H	0.99225	4.475	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97764	1.0222	10	0.87932	D	0	.	13.4492	0.61161	0.0:0.0:1.0:0.0	.	13;352	Q8NCI6-2;Q8NCI6	.;GLBL3_HUMAN	R	352	ENSP00000396615:G352R	ENSP00000396615:G352R	G	+	1	0	GLB1L3	133684822	1.000000	0.71417	0.057000	0.19452	0.312000	0.27988	5.226000	0.65299	2.619000	0.88677	0.455000	0.32223	GGG		0.483	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		3	12	0	0	0	1	0	3	12				
EPG5	57724	broad.mit.edu	37	18	43437926	43437926	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr18:43437926C>T	ENST00000282041.5	-	42	7368	c.7334G>A	c.(7333-7335)cGa>cAa	p.R2445Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2445					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAGCAGAATTCGAATGACAGA	0.537																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(7333-7335)cGa>cAa		ectopic P-granules autophagy protein 5 homolog (C. elegans)							72.0	74.0	74.0					18																	43437926		1931	4143	6074	SO:0001583	missense	57724				autophagy			g.chr18:43437926C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7334G>A	18.37:g.43437926C>T	ENSP00000282041:p.Arg2445Gln					EPG5_ENST00000585906.1_5'UTR	p.R2445Q	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			42	7368	-			2445					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.7334G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401899	0.62288	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.10573	2.86	5.64	4.77	0.60923	.	.	.	.	.	T	0.13884	0.0336	L	0.59436	1.845	0.40571	D	0.981303	B	0.22480	0.07	B	0.12837	0.008	T	0.02138	-1.1207	9	0.52906	T	0.07	-2.3657	14.3436	0.66643	0.0:0.9288:0.0:0.0712	.	2445	Q9HCE0	EPG5_HUMAN	Q	2445;373;1320	ENSP00000282041:R2445Q	ENSP00000282041:R2445Q	R	-	2	0	EPG5	41691924	0.962000	0.33011	0.859000	0.33776	0.943000	0.58893	2.057000	0.41365	1.388000	0.46506	0.561000	0.74099	CGA		0.537	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		21	34	0	0	0	1	0	21	34				
CYLC1	1538	broad.mit.edu	37	X	83128836	83128836	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:83128836T>A	ENST00000329312.4	+	4	1157	c.1120T>A	c.(1120-1122)Tca>Aca	p.S374T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	374					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGATACTGAATCAGGAGATGC	0.323																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1120-1122)Tca>Aca		cylicin, basic protein of sperm head cytoskeleton 1							33.0	30.0	31.0					X																	83128836		2191	4290	6481	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128836T>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1120T>A	X.37:g.83128836T>A	ENSP00000331556:p.Ser374Thr						p.S374T	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1157	+			374					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1120T>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	10.31	1.314006	0.23908	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.26518	1.73	4.36	3.09	0.35607	.	.	.	.	.	T	0.27629	0.0679	L	0.50333	1.59	0.24690	N	0.99332	P;P	0.50156	0.932;0.932	P;P	0.49561	0.615;0.615	T	0.07481	-1.0770	9	0.30078	T	0.28	.	5.7798	0.18299	0.2405:0.0:0.0:0.7595	.	374;374	P35663;F5H4V5	CYLC1_HUMAN;.	T	374	ENSP00000331556:S374T	ENSP00000331556:S374T	S	+	1	0	CYLC1	83015492	1.000000	0.71417	0.980000	0.43619	0.557000	0.35523	1.331000	0.33793	1.724000	0.51502	0.451000	0.29950	TCA		0.323	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		15	14	0	0	0	1	0	15	14				
C1orf168	199920	broad.mit.edu	37	1	57206384	57206384	+	Silent	SNP	C	C	T	rs140363025		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:57206384C>T	ENST00000343433.6	-	13	1769	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	563										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGTTTTCTTTCGACTTGGTTT	0.363													T|||	1	0.000199681	0.0	0.0	5008	,	,		18005	0.0		0.0	False		,,,				2504	0.001					ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(1687-1689)tcG>tcA		chromosome 1 open reading frame 168		T		0,4406		0,0,2203	106.0	98.0	101.0		1689	-4.9	0.1	1	dbSNP_134	101	1,8595	815.5+/-407.0	0,1,4297	no	coding-synonymous	C1orf168	NM_001004303.4		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		563/729	57206384	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	199920							g.chr1:57206384C>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1689G>A	1.37:g.57206384C>T						C1orf168_ENST00000484327.1_5'UTR	p.S563S	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			13	1769	-			563					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.1689G>A	CCDS30729.1																																																																																				0.363	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		7	13	0	0	0	1	0	7	13				
EPS8L1	54869	broad.mit.edu	37	19	55593930	55593930	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:55593930G>A	ENST00000201647.6	+	12	1230	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	EPS8L1_ENST00000588359.1_Missense_Mutation_p.E46K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E265K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E328K|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E374K|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	392					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACGTGAAAACGAGCTCTGGAC	0.697																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1174-1176)Gag>Aag		EPS8-like 1							10.0	9.0	10.0					19																	55593930		2174	4257	6431	SO:0001583	missense	54869					cytoplasm		g.chr19:55593930G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1174G>A	19.37:g.55593930G>A	ENSP00000201647:p.Glu392Lys					EPS8L1_ENST00000586329.1_Missense_Mutation_p.E374K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E328K|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E265K|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E46K	p.E392K	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1230	+			392					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1174G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016000	0.35606	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.21543	2.0;2.0;2.0	4.05	1.77	0.24775	.	0.844353	0.10478	N	0.669992	T	0.12433	0.0302	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.32382	0.004;0.031;0.334;0.062;0.368	B;B;B;B;B	0.25759	0.002;0.007;0.063;0.027;0.017	T	0.25433	-1.0132	10	0.30854	T	0.27	-3.4601	5.8649	0.18768	0.1111:0.0:0.6999:0.189	.	328;374;139;265;392	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	K	374;392;328;265;46	ENSP00000201647:E392K;ENSP00000437541:E328K;ENSP00000245618:E265K	ENSP00000201647:E392K	E	+	1	0	EPS8L1	60285742	0.000000	0.05858	0.001000	0.08648	0.849000	0.48306	-0.027000	0.12371	0.413000	0.25759	0.561000	0.74099	GAG		0.697	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		6	10	0	0	0	1	0	6	10				
CCDC148	130940	broad.mit.edu	37	2	159215037	159215037	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:159215037T>C	ENST00000283233.5	-	2	384	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	CCDC148_ENST00000409187.1_Missense_Mutation_p.Y33C|CCDC148_ENST00000536771.1_Intron|CCDC148_ENST00000409889.1_Missense_Mutation_p.Y24C	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	24										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TACTGGTTTGTACTTGATGTT	0.328																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(70-72)tAc>tGc		coiled-coil domain containing 148							189.0	172.0	178.0					2																	159215037		2201	4300	6501	SO:0001583	missense	130940							g.chr2:159215037T>C		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.71A>G	2.37:g.159215037T>C	ENSP00000283233:p.Tyr24Cys					CCDC148_ENST00000409187.1_Missense_Mutation_p.Y33C|CCDC148_ENST00000409889.1_Missense_Mutation_p.Y24C|CCDC148_ENST00000536771.1_Intron	p.Y24C	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			2	384	-			24					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.71A>G	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240944	0.39598	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000409889	T;T;T	0.46819	0.86;0.86;0.86	5.52	5.52	0.82312	.	.	.	.	.	T	0.67297	0.2878	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71163	-0.4673	9	0.87932	D	0	-11.6576	13.6243	0.62155	0.0:0.0:0.0:1.0	.	24	Q8NFR7	CC148_HUMAN	C	24;33;24	ENSP00000283233:Y24C;ENSP00000386674:Y33C;ENSP00000386583:Y24C	ENSP00000283233:Y24C	Y	-	2	0	CCDC148	158923283	1.000000	0.71417	0.789000	0.31954	0.038000	0.13279	4.473000	0.60196	2.096000	0.63516	0.528000	0.53228	TAC		0.328	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		10	14	0	0	0	1	0	10	14				
CDH26	60437	broad.mit.edu	37	20	58569315	58569315	+	Silent	SNP	G	G	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr20:58569315G>T	ENST00000244047.5	+	11	1748	c.1437G>T	c.(1435-1437)ccG>ccT	p.P479P	CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000348616.4_Silent_p.P479P|CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26	479	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> L (in dbSNP:rs6071067).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P479P(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCTTCCCACCGCAGACTGCTA	0.517																																						ENST00000348616.4																			2	Substitution - coding silent(2)	p.P479P(2)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1435-1437)ccG>ccT		cadherin 26							86.0	75.0	79.0					20																	58569315		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58569315G>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1437G>T	20.37:g.58569315G>T						CDH26_ENST00000244047.5_Silent_p.P479P|CDH26_ENST00000497614.1_3'UTR	p.P479P	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		11	1737	+	all_lung(29;0.00963)		479		P -> L (in dbSNP:rs6071067).	Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.1437G>T		.	.	.	.	.	.	.	.	.	.	G	3.514	-0.099088	0.07010	.	.	ENSG00000124215	ENST00000370991	.	.	.	4.4	-8.8	0.00817	.	.	.	.	.	T	0.28067	0.0692	.	.	.	0.21020	N	0.99981	.	.	.	.	.	.	T	0.32375	-0.9909	4	.	.	.	.	10.5674	0.45181	0.5324:0.121:0.3466:0.0	.	.	.	.	L	71	.	.	R	+	2	0	CDH26	58002710	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-7.240000	0.00041	-2.175000	0.00771	-1.619000	0.00793	CGC		0.517	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		25	34	1	0	9.04412e-07	1	9.28005e-07	25	34				
AFF3	3899	broad.mit.edu	37	2	100266101	100266101	+	Missense_Mutation	SNP	C	C	T	rs546235334		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:100266101C>T	ENST00000409236.2	-	11	1283	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	AFF3_ENST00000409579.1_Missense_Mutation_p.A416T|AFF3_ENST00000317233.4_Missense_Mutation_p.A391T|AFF3_ENST00000356421.2_Missense_Mutation_p.A416T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	391					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCAGAGAGAGCGCGGAGAGCC	0.363																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1171-1173)Gct>Act		AF4/FMR2 family, member 3							86.0	99.0	94.0					2																	100266101		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100266101C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1171G>A	2.37:g.100266101C>T	ENSP00000387207:p.Ala391Thr					AFF3_ENST00000409579.1_Missense_Mutation_p.A416T|AFF3_ENST00000409236.1_Missense_Mutation_p.A391T|AFF3_ENST00000356421.2_Missense_Mutation_p.A416T	p.A391T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			12	1406	-			391					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1171G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401616	0.25291	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.70045	-0.44;-0.45;-0.45;-0.44	6.08	2.39	0.29439	.	0.707240	0.12274	N	0.483522	T	0.43875	0.1267	N	0.08118	0	0.24121	N	0.995801	B;B;B	0.17268	0.001;0.021;0.007	B;B;B	0.12156	0.003;0.007;0.004	T	0.22103	-1.0226	10	0.20519	T	0.43	.	10.5302	0.44973	0.0:0.7659:0.0:0.2341	.	544;391;416	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	391;416;416;391;391;544;416	ENSP00000317421:A391T;ENSP00000348793:A416T;ENSP00000386834:A416T;ENSP00000387207:A391T	ENSP00000317421:A391T	A	-	1	0	AFF3	99632533	0.183000	0.23186	0.987000	0.45799	0.820000	0.46376	-0.174000	0.09839	0.181000	0.19994	-0.726000	0.03593	GCT		0.363	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		18	60	0	0	0	1	0	18	60				
CHM	1121	broad.mit.edu	37	X	85218875	85218875	+	Missense_Mutation	SNP	G	G	A	rs569919713		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:85218875G>A	ENST00000357749.2	-	5	526	c.497C>T	c.(496-498)gCg>gTg	p.A166V	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.A18V	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	166					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.A166V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TACTTCTAGCGCATTCTCTGG	0.443																																						ENST00000357749.2																			1	Substitution - Missense(1)	p.A166V(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(496-498)gCg>gTg		choroideremia (Rab escort protein 1)							163.0	129.0	141.0					X																	85218875		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85218875G>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.497C>T	X.37:g.85218875G>A	ENSP00000350386:p.Ala166Val					CHM_ENST00000537751.1_Missense_Mutation_p.A18V|CHM_ENST00000467744.1_Intron	p.A166V	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			5	526	-		all_lung(315;5.41e-06)	166					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.497C>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	G	4.636	0.118180	0.08881	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.59906	0.23;0.23	4.5	2.72	0.32119	.	0.772224	0.12628	N	0.452422	T	0.41811	0.1175	L	0.44542	1.39	0.09310	N	1	P	0.35872	0.525	B	0.25140	0.058	T	0.10154	-1.0642	10	0.15499	T	0.54	-7.8514	10.1654	0.42877	0.1693:0.0:0.8307:0.0	.	166	P24386	RAE1_HUMAN	V	166;18	ENSP00000350386:A166V;ENSP00000441728:A18V	ENSP00000350386:A166V	A	-	2	0	CHM	85105531	0.003000	0.15002	0.002000	0.10522	0.143000	0.21401	1.088000	0.30877	0.308000	0.22923	-0.816000	0.03127	GCG		0.443	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		30	49	0	0	0	1	0	30	49				
PLXNB3	5365	broad.mit.edu	37	X	153039479	153039479	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:153039479C>T	ENST00000361971.5	+	20	3559	c.3445C>T	c.(3445-3447)Cgc>Tgc	p.R1149C	SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R759C|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R802C|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1172C	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1149					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAACCCCCGCCTGGCACC	0.687																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3514-3516)Cgc>Tgc		plexin B3							20.0	22.0	21.0					X																	153039479		2191	4266	6457	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039479C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3445C>T	X.37:g.153039479C>T	ENSP00000355378:p.Arg1149Cys					PLXNB3_ENST00000538282.1_Missense_Mutation_p.R759C|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R1149C|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R802C	p.R1172C	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			21	3785	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1149			IPT/TIG 4.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3514C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064796	0.55432	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.68181	5.24;5.2;4.62;-0.31	5.28	5.28	0.74379	.	0.490245	0.23731	N	0.045127	T	0.75488	0.3856	M	0.66939	2.045	0.41099	D	0.985652	D;D;D	0.64830	0.981;0.994;0.981	P;P;P	0.55667	0.608;0.781;0.608	T	0.77509	-0.2561	10	0.49607	T	0.09	.	14.8154	0.70031	0.0:1.0:0.0:0.0	.	802;1172;1149	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	C	1172;1149;802;759	ENSP00000442736:R1172C;ENSP00000355378:R1149C;ENSP00000445569:R802C;ENSP00000441919:R759C	ENSP00000355378:R1149C	R	+	1	0	PLXNB3	152692673	0.001000	0.12720	1.000000	0.80357	0.930000	0.56654	0.637000	0.24659	2.198000	0.70561	0.529000	0.55759	CGC		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			15	34	0	0	0	1	0	15	34				
RHBDL3	162494	broad.mit.edu	37	17	30611720	30611720	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:30611720C>T	ENST00000269051.4	+	3	192	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	RHBDL3_ENST00000538145.1_Missense_Mutation_p.R52W|RHBDL3_ENST00000536287.1_Intron	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	60	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				AGGCAAGTTCCGGAGTCTTCT	0.592																																						ENST00000269051.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(178-180)Cgg>Tgg		rhomboid, veinlet-like 3 (Drosophila)							80.0	72.0	75.0					17																	30611720		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30611720C>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.178C>T	17.37:g.30611720C>T	ENSP00000269051:p.Arg60Trp					RHBDL3_ENST00000536287.1_Intron|RHBDL3_ENST00000538145.1_Missense_Mutation_p.R52W	p.R60W	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN			3	192	+		Breast(31;0.116)|Ovarian(249;0.182)	60			EF-hand 1.		A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.178C>T	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487431	0.63962	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145	T;T;T	0.73047	-0.71;-0.71;0.73	4.59	3.61	0.41365	EF-hand-like domain (1);	0.064498	0.64402	D	0.000010	T	0.80649	0.4663	M	0.75085	2.285	0.80722	D	1	P;D;D	0.89917	0.67;1.0;1.0	B;D;D	0.75484	0.165;0.965;0.986	T	0.80725	-0.1254	10	0.72032	D	0.01	-41.2652	7.9033	0.29746	0.1611:0.7584:0.0:0.0804	.	60;52;60	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	W	60;60;52	ENSP00000394849:R60W;ENSP00000269051:R60W;ENSP00000442092:R52W	ENSP00000269051:R60W	R	+	1	2	RHBDL3	27635833	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	3.000000	0.49481	1.140000	0.42260	0.563000	0.77884	CGG		0.592	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		21	31	0	0	0	1	0	21	31				
PTEN	5728	broad.mit.edu	37	10	89692980	89692980	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:89692980A>G	ENST00000371953.3	+	5	1821	c.464A>G	c.(463-465)tAt>tGt	p.Y155C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	155	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> C (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Y155C(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGATTTCTATGGGGAAGTA	0.373		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		57	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(7)|Unknown(5)	p.0?(37)|p.Y155C(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(3)|endometrium(2)|thyroid(1)|biliary_tract(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM032998	PTEN	M		c.(463-465)tAt>tGt		phosphatase and tensin homolog							55.0	58.0	57.0					10																	89692980		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692980A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.464A>G	10.37:g.89692980A>G	ENSP00000361021:p.Tyr155Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Y155C	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1821	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	155		Y -> C (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.464A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356565	0.82243	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92737	0.7691	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93437	0.6790	9	.	.	.	-9.4319	15.1019	0.72284	1.0:0.0:0.0:0.0	.	155	P60484	PTEN_HUMAN	C	155	ENSP00000361021:Y155C	.	Y	+	2	0	PTEN	89682960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.918000	0.92759	1.953000	0.56701	0.533000	0.62120	TAT		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		42	3	0	0	0	1	0	42	3				
NSF	4905	broad.mit.edu	37	17	44782178	44782178	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:44782178G>A	ENST00000398238.4	+	13	1535	c.1428G>A	c.(1426-1428)acG>acA	p.T476T	NSF_ENST00000575068.1_Silent_p.T471T|NSF_ENST00000225282.8_Silent_p.T382T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	476			T -> M (in dbSNP:rs155733).		exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGCAAGTGACGAGAGGAGACT	0.383																																					Ovarian(25;472 742 1472 36813 50223)	ENST00000398238.4																			0				kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1426-1428)acG>acA		N-ethylmaleimide-sensitive factor							137.0	150.0	146.0					17																	44782178		1888	4129	6017	SO:0001819	synonymous_variant	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44782178G>A		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1428G>A	17.37:g.44782178G>A						NSF_ENST00000225282.8_Silent_p.T382T|NSF_ENST00000575068.1_Silent_p.T471T	p.T476T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	13	1535	+		Melanoma(429;0.203)	476		T -> M (in dbSNP:rs155733).			A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Silent	SNP	ENST00000398238.4	37	c.1428G>A	CCDS42354.1																																																																																				0.383	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		21	34	0	0	0	1	0	21	34				
BFAR	51283	broad.mit.edu	37	16	14743799	14743799	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:14743799G>A	ENST00000261658.2	+	4	884	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	BFAR_ENST00000426842.2_Missense_Mutation_p.E75K|BFAR_ENST00000563971.1_Intron	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	203	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TCTTTACAGGGAAAGGTTTTT	0.493																																						ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(607-609)Gaa>Aaa		bifunctional apoptosis regulator							70.0	69.0	69.0					16																	14743799		2197	4300	6497	SO:0001583	missense	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14743799G>A	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.607G>A	16.37:g.14743799G>A	ENSP00000261658:p.Glu203Lys					BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Missense_Mutation_p.E75K	p.E203K	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			4	884	+			203			SAM.		A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	c.607G>A	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474310	0.84640	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.51574	0.7;0.7	5.35	5.35	0.76521	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.213257	0.47455	D	0.000221	T	0.44973	0.1319	L	0.55743	1.74	0.52501	D	0.999958	B;B	0.25048	0.049;0.117	B;B	0.30179	0.112;0.082	T	0.38178	-0.9673	10	0.07813	T	0.8	.	18.0392	0.89314	0.0:0.0:1.0:0.0	.	75;203	B4DUT0;Q9NZS9	.;BFAR_HUMAN	K	203;75	ENSP00000261658:E203K;ENSP00000400634:E75K	ENSP00000261658:E203K	E	+	1	0	BFAR	14651300	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.742000	0.85008	2.498000	0.84270	0.462000	0.41574	GAA		0.493	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		17	33	0	0	0	1	0	17	33				
MRGPRX3	117195	broad.mit.edu	37	11	18159005	18159005	+	Missense_Mutation	SNP	C	C	T	rs141255495		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:18159005C>T	ENST00000396275.2	+	3	617	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCGCCGTTACGCCTCATCAA	0.547																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(256-258)Cgc>Tgc		MAS-related GPR, member X3		C	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	104.0	99.0	101.0		256	-2.9	0.0	11	dbSNP_134	101	0,8586		0,0,4293	no	missense	MRGPRX3	NM_054031.3	180	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	benign	86/323	18159005	1,12985	2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159005C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.256C>T	11.37:g.18159005C>T	ENSP00000379571:p.Arg86Cys						p.R86C	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	617	+			86					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.256C>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	2.094	-0.407619	0.04832	2.27E-4	0.0	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.09723	2.95;2.95	1.46	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	6.703250	0.00166	N	0.000000	T	0.08223	0.0205	L	0.35487	1.065	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24764	-1.0151	10	0.41790	T	0.15	.	1.5345	0.02542	0.2692:0.4211:0.1589:0.1508	.	86	Q96LB0	MRGX3_HUMAN	C	86	ENSP00000379571:R86C;ENSP00000436242:R86C	ENSP00000379571:R86C	R	+	1	0	MRGPRX3	18115581	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.755000	0.01814	-2.232000	0.00717	-0.719000	0.03609	CGC		0.547	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		45	67	0	0	0	1	0	45	67				
ADCY6	112	broad.mit.edu	37	12	49169177	49169177	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:49169177C>T	ENST00000307885.4	-	10	2583	c.1889G>A	c.(1888-1890)cGt>cAt	p.R630H	ADCY6_ENST00000550422.1_Missense_Mutation_p.R630H|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.R630H	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	630					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ATCGATGGCACGGCTCAGGAA	0.587																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1888-1890)cGt>cAt		adenylate cyclase 6							82.0	72.0	76.0					12																	49169177		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169177C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1889G>A	12.37:g.49169177C>T	ENSP00000311405:p.Arg630His					ADCY6_ENST00000550422.1_Missense_Mutation_p.R630H|ADCY6_ENST00000357869.3_Missense_Mutation_p.R630H|ADCY6_ENST00000552090.1_5'UTR	p.R630H	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			10	2583	-			630					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1889G>A	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742262	0.96873	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.78126	-1.15;-1.15;-1.15	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	D	0.85225	0.5648	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.949	D	0.86025	0.1509	10	0.59425	D	0.04	.	17.614	0.88063	0.0:1.0:0.0:0.0	.	630;630	O43306-2;O43306	.;ADCY6_HUMAN	H	630	ENSP00000350536:R630H;ENSP00000446730:R630H;ENSP00000311405:R630H	ENSP00000311405:R630H	R	-	2	0	ADCY6	47455444	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.695000	0.84257	2.533000	0.85409	0.557000	0.71058	CGT		0.587	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		35	37	0	0	0	1	0	35	37				
RHOXF1	158800	broad.mit.edu	37	X	119249405	119249405	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:119249405C>T	ENST00000217999.2	-	1	442	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	123					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						TTGAGTGTGTCGGAAAACACT	0.577																																						ENST00000217999.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(367-369)cGa>cAa		Rhox homeobox family, member 1							72.0	61.0	65.0					X																	119249405		2203	4296	6499	SO:0001583	missense	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249405C>T		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"""Homeoboxes / PRD class"""	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.368G>A	X.37:g.119249405C>T	ENSP00000217999:p.Arg123Gln					RP4-755D9.1_ENST00000553843.1_RNA	p.R123Q	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN			1	442	-			123					O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	c.368G>A	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	c	0.019	-1.465544	0.01053	.	.	ENSG00000101883	ENST00000217999	D	0.95949	-3.86	2.67	0.178	0.15058	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.82664	0.5086	N	0.03016	-0.435	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.72469	-0.4284	9	0.07325	T	0.83	-4.2574	4.5481	0.12090	0.0:0.3303:0.0:0.6697	.	123	Q8NHV9	RHXF1_HUMAN	Q	123	ENSP00000217999:R123Q	ENSP00000217999:R123Q	R	-	2	0	RHOXF1	119133433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.317000	0.08060	-0.059000	0.13154	-0.513000	0.04457	CGA		0.577	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		37	51	0	0	0	1	0	37	51				
KIAA1217	56243	broad.mit.edu	37	10	24810839	24810839	+	Missense_Mutation	SNP	G	G	A	rs560634485		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:24810839G>A	ENST00000376454.3	+	12	2467	c.2437G>A	c.(2437-2439)Gtc>Atc	p.V813I	KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V733I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V496I|KIAA1217_ENST00000376451.2_Missense_Mutation_p.V496I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V778I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V496I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V496I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V778I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	813					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CATGACAGACGTCCTGACCAT	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18248	0.0		0.0	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1486-1488)Gtc>Atc		KIAA1217							54.0	49.0	51.0					10																	24810839		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24810839G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2437G>A	10.37:g.24810839G>A	ENSP00000365637:p.Val813Ile					KIAA1217_ENST00000458595.1_Missense_Mutation_p.V778I|KIAA1217_ENST00000376454.3_Missense_Mutation_p.V813I|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V778I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V496I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V496I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V733I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V496I	p.V496I			Q5T5P2	SKT_HUMAN			7	1746	+			813					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1486G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237558	0.22711	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.95	-0.774	0.10991	.	1.178920	0.05914	N	0.632317	T	0.34483	0.0899	N	0.25647	0.755	0.18873	N	0.999987	B;B;B;B;B;B;B;B	0.27166	0.17;0.029;0.035;0.004;0.17;0.035;0.086;0.001	B;B;B;B;B;B;B;B	0.16722	0.01;0.007;0.011;0.003;0.016;0.011;0.016;0.003	T	0.22312	-1.0220	10	0.45353	T	0.12	.	10.467	0.44614	0.3708:0.0866:0.5426:0.0	.	778;778;496;496;496;496;813;813	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	I	733;778;778;496;813;778;628;496;496;496;496;496	ENSP00000365645:V733I;ENSP00000365639:V778I;ENSP00000392625:V778I;ENSP00000365637:V813I;ENSP00000365635:V778I;ENSP00000404798:V628I;ENSP00000302343:V496I;ENSP00000379722:V496I;ENSP00000365634:V496I;ENSP00000379723:V496I	ENSP00000302343:V496I	V	+	1	0	KIAA1217	24850845	0.090000	0.21635	0.379000	0.26080	0.396000	0.30629	0.711000	0.25764	-0.760000	0.04677	-1.119000	0.02030	GTC		0.632	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		29	35	0	0	0	1	0	29	35				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	16	0	0	0	1	0	3	16				
OR4C6	219432	broad.mit.edu	37	11	55432696	55432696	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:55432696C>G	ENST00000314259.3	+	1	83	c.54C>G	c.(52-54)aaC>aaG	p.N18K		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCACAGAGAACCTGGAGCTGT	0.383																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(52-54)aaC>aaG		olfactory receptor, family 4, subfamily C, member 6							141.0	132.0	135.0					11																	55432696		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432696C>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.54C>G	11.37:g.55432696C>G	ENSP00000324769:p.Asn18Lys						p.N18K	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	83	+			18					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.54C>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255755	0.22965	.	.	ENSG00000181903	ENST00000314259	T	0.01076	5.37	3.83	-4.27	0.03744	.	0.569265	0.14458	N	0.318362	T	0.01627	0.0052	L	0.58969	1.84	0.09310	N	1	P	0.37176	0.586	B	0.40864	0.342	T	0.27640	-1.0068	10	0.66056	D	0.02	.	7.958	0.30055	0.0:0.5785:0.1238:0.2977	.	18	Q8NH72	OR4C6_HUMAN	K	18	ENSP00000324769:N18K	ENSP00000324769:N18K	N	+	3	2	OR4C6	55189272	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.631000	0.00409	-0.596000	0.05821	-0.406000	0.06334	AAC		0.383	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		33	50	0	0	0	1	0	33	50				
PGS1	9489	broad.mit.edu	37	17	76395556	76395556	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:76395556C>T	ENST00000262764.6	+	5	665	c.639C>T	c.(637-639)aaC>aaT	p.N213N	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Silent_p.N78N|SNORA30_ENST00000363193.1_RNA	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	213					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGCGCTTCAACGAGACCATCG	0.607																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000262764.6																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(637-639)aaC>aaT		phosphatidylglycerophosphate synthase 1							94.0	98.0	97.0					17																	76395556		2148	4240	6388	SO:0001819	synonymous_variant	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76395556C>T		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.639C>T	17.37:g.76395556C>T						PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Silent_p.N78N	p.N213N	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		5	665	+			213					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Silent	SNP	ENST00000262764.6	37	c.639C>T	CCDS42391.1																																																																																				0.607	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		38	60	0	0	0	1	0	38	60				
RPS6KC1	26750	broad.mit.edu	37	1	213302876	213302876	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:213302876C>T	ENST00000366960.3	+	6	629	c.479C>T	c.(478-480)tCc>tTc	p.S160F	RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S148F|RPS6KC1_ENST00000543470.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	160					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTAGGCTTCTCCAGTGACAGT	0.333																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(478-480)tCc>tTc		ribosomal protein S6 kinase, 52kDa, polypeptide 1							113.0	117.0	115.0					1																	213302876		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213302876C>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.479C>T	1.37:g.213302876C>T	ENSP00000355927:p.Ser160Phe					RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S148F|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_5'UTR	p.S160F	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	6	629	+			160					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.479C>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365160	0.82463	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.37584	1.19;1.2	5.53	5.53	0.82687	.	0.062535	0.64402	D	0.000003	T	0.52517	0.1739	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.54536	-0.8279	10	0.87932	D	0	-21.5849	19.4827	0.95016	0.0:1.0:0.0:0.0	.	160;148	Q96S38;B1APS8	KS6C1_HUMAN;.	F	160;148	ENSP00000355927:S160F;ENSP00000355926:S148F	ENSP00000355926:S148F	S	+	2	0	RPS6KC1	211369499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.629000	0.74267	2.601000	0.87937	0.585000	0.79938	TCC		0.333	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		21	43	0	0	0	1	0	21	43				
PCDHB5	26167	broad.mit.edu	37	5	140515028	140515028	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:140515028G>A	ENST00000231134.5	+	1	229	c.12G>A	c.(10-12)gcG>gcA	p.A4A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	4					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGAGACTGCGCTAGCAAAAA	0.463																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(10-12)gcG>gcA									91.0	80.0	84.0					5																	140515028		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515028G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.12G>A	5.37:g.140515028G>A							p.A4A	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	229	+			4					Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.12G>A	CCDS4247.1																																																																																				0.463	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		24	57	0	0	0	1	0	24	57				
ADAT3	113179	broad.mit.edu	37	19	1912242	1912242	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:1912242G>A	ENST00000602400.1	+	2	376	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	SCAMP4_ENST00000409472.1_Intron|ADAT3_ENST00000329478.2_Missense_Mutation_p.V66I|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	50					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGCGCCCGTCCTGGACAA	0.736																																						ENST00000329478.2																			0				breast(1)|kidney(3)|pancreas(1)|skin(2)	7						c.(196-198)Gtc>Atc		adenosine deaminase, tRNA-specific 3							12.0	13.0	12.0					19																	1912242		2182	4266	6448	SO:0001583	missense	113179				tRNA processing		hydrolase activity|zinc ion binding	g.chr19:1912242G>A	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"""tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"""	615302	"""adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"""			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.148G>A	19.37:g.1912242G>A	ENSP00000473571:p.Val50Ile					ADAT3_ENST00000602400.1_Missense_Mutation_p.V50I|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron	p.V66I			Q96EY9	ADAT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	416	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	50						Missense_Mutation	SNP	ENST00000602400.1	37	c.196G>A		.	.	.	.	.	.	.	.	.	.	g	0.014	-1.582125	0.00879	.	.	ENSG00000213638	ENST00000329478;ENST00000454697	.	.	.	4.96	0.854	0.19007	.	0.189861	0.44483	N	0.000454	T	0.20210	0.0486	N	0.20685	0.6	0.22975	N	0.998488	B	0.18461	0.028	B	0.08055	0.003	T	0.30621	-0.9972	9	0.02654	T	1	-33.9264	9.5985	0.39589	0.3943:0.0:0.6057:0.0	.	50	Q96EY9	ADAT3_HUMAN	I	50	.	ENSP00000332448:V50I	V	+	1	0	ADAT3	1863242	0.094000	0.21725	0.010000	0.14722	0.098000	0.18820	0.547000	0.23299	0.088000	0.17205	-0.829000	0.03081	GTC		0.736	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		8	7	0	0	0	1	0	8	7				
AFF2	2334	broad.mit.edu	37	X	147924917	147924917	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:147924917C>A	ENST00000370460.2	+	7	1701	c.1222C>A	c.(1222-1224)Cca>Aca	p.P408T	AFF2_ENST00000370457.5_Missense_Mutation_p.P375T|AFF2_ENST00000370458.1_Missense_Mutation_p.P375T|AFF2_ENST00000342251.3_Missense_Mutation_p.P375T|AFF2_ENST00000286437.5_Missense_Mutation_p.P49T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	408					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAATGACCCAACCACCAG	0.388																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1222-1224)Cca>Aca		AF4/FMR2 family, member 2							139.0	118.0	125.0					X																	147924917		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147924917C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1222C>A	X.37:g.147924917C>A	ENSP00000359489:p.Pro408Thr					AFF2_ENST00000370457.5_Missense_Mutation_p.P375T|AFF2_ENST00000342251.3_Missense_Mutation_p.P375T|AFF2_ENST00000370458.1_Missense_Mutation_p.P375T|AFF2_ENST00000286437.5_Missense_Mutation_p.P49T	p.P408T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			7	1701	+	Acute lymphoblastic leukemia(192;6.56e-05)		408					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1222C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998107	0.74818	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.74	5.74	0.90152	.	0.743246	0.12669	N	0.448953	T	0.68659	0.3025	N	0.25890	0.77	0.51482	D	0.999927	D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.493	D;D;D;D;D;D;B	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.109	T	0.59129	-0.7512	10	0.13108	T	0.6	.	17.0505	0.86517	0.0:1.0:0.0:0.0	.	49;379;375;375;404;408;375	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	T	408;375;375;375;49	ENSP00000359489:P408T;ENSP00000359486:P375T;ENSP00000345459:P375T;ENSP00000359487:P375T;ENSP00000286437:P49T	ENSP00000286437:P49T	P	+	1	0	AFF2	147732609	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	5.133000	0.64764	2.405000	0.81733	0.540000	0.68198	CCA		0.388	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		23	36	1	0	2.21704e-12	1	2.3358e-12	23	36				
DMBT1	1755	broad.mit.edu	37	10	124389946	124389946	+	Nonsense_Mutation	SNP	C	C	T	rs143073434		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:124389946C>T	ENST00000338354.3	+	45	5684	c.5578C>T	c.(5578-5580)Cga>Tga	p.R1860*	DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1850*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1860*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1850*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R580*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R1232*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R1232*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1860	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.		R -> L (in dbSNP:rs7099177).		defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CATTCACTTTCGAAGTGACAT	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		21179	0.001		0.0	False		,,,				2504	0.0				Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5578-5580)Cga>Tga		deleted in malignant brain tumors 1							96.0	91.0	92.0					10																	124389946		1880	4122	6002	SO:0001587	stop_gained	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124389946C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5578C>T	10.37:g.124389946C>T	ENSP00000342210:p.Arg1860*					DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1850*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1860*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R1232*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R1232*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R580*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1850*	p.R1860*			Q9UGM3	DMBT1_HUMAN			45	5684	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1860		R -> L (in dbSNP:rs7099177).	CUB 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.5578C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	41	8.811651	0.98962	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	.	.	.	4.45	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	2.3495	0.04280	0.153:0.5114:0.1495:0.1861	.	.	.	.	X	1860;1989;1860;1860;1860;1860;1232;1850;1232;1232;1860;1850;1232;6;580	.	ENSP00000331522:R1232X	R	+	1	2	DMBT1	124379936	0.001000	0.12720	0.225000	0.23894	0.386000	0.30323	0.080000	0.14802	0.969000	0.38237	-0.136000	0.14681	CGA		0.428	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		42	8	0	0	0	1	0	42	8				
EXOC4	60412	broad.mit.edu	37	7	133692545	133692545	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:133692545A>G	ENST00000253861.4	+	17	2673	c.2644A>G	c.(2644-2646)Acc>Gcc	p.T882A	EXOC4_ENST00000545148.1_Missense_Mutation_p.T492A|EXOC4_ENST00000541309.1_Missense_Mutation_p.T170A|EXOC4_ENST00000539845.1_Missense_Mutation_p.T781A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	882					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCAGAATTTGACCAACATCAC	0.473																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(2644-2646)Acc>Gcc		exocyst complex component 4							77.0	67.0	70.0					7																	133692545		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133692545A>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2644A>G	7.37:g.133692545A>G	ENSP00000253861:p.Thr882Ala					EXOC4_ENST00000541309.1_Missense_Mutation_p.T170A|EXOC4_ENST00000545148.1_Missense_Mutation_p.T492A|EXOC4_ENST00000539845.1_Missense_Mutation_p.T781A	p.T882A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			17	2673	+		Esophageal squamous(399;0.129)	882					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2644A>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798747	0.70567	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.58428	1.81	0.80722	D	1	B;B;P	0.48089	0.05;0.395;0.905	B;B;B	0.39152	0.029;0.167;0.292	T	0.45264	-0.9273	9	0.18276	T	0.48	.	14.7083	0.69208	1.0:0.0:0.0:0.0	.	414;492;882	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	A	882;501;781;492;170	.	ENSP00000253861:T882A	T	+	1	0	EXOC4	133343085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.639000	0.74314	2.078000	0.62432	0.482000	0.46254	ACC		0.473	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		14	26	0	0	0	1	0	14	26				
EXOC3L1	283849	broad.mit.edu	37	16	67219060	67219060	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:67219060G>A	ENST00000314586.6	-	11	1968	c.1728C>T	c.(1726-1728)cgC>cgT	p.R576R	KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	576					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGTTCCGCACGCGCCAGAAGT	0.677																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1726-1728)cgC>cgT		exocyst complex component 3-like 1							34.0	42.0	39.0					16																	67219060		2197	4298	6495	SO:0001819	synonymous_variant	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67219060G>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1728C>T	16.37:g.67219060G>A							p.R576R	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			11	1968	-			576					A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	ENST00000314586.6	37	c.1728C>T	CCDS10832.1																																																																																				0.677	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		51	53	0	0	0	1	0	51	53				
CDC42EP2	10435	broad.mit.edu	37	11	65088659	65088659	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:65088659C>T	ENST00000544348.1	+	2	896	c.290C>T	c.(289-291)cCg>cTg	p.P97L	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.P97L|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.P97L			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	97					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						CGGGAGCTCCCGGACGGCCCA	0.682																																						ENST00000544348.1																			0				lung(1)	1						c.(289-291)cCg>cTg		CDC42 effector protein (Rho GTPase binding) 2							69.0	70.0	70.0					11																	65088659		2201	4297	6498	SO:0001583	missense	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088659C>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.290C>T	11.37:g.65088659C>T	ENSP00000442534:p.Pro97Leu					CDC42EP2_ENST00000533419.1_Missense_Mutation_p.P97L|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.P97L	p.P97L			O14613	BORG1_HUMAN			2	896	+			97					B2RD85|Q9UNS0	Missense_Mutation	SNP	ENST00000544348.1	37	c.290C>T	CCDS8099.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666791	0.29604	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	T;T;T	0.33654	1.4;1.4;1.4	5.23	5.23	0.72850	.	0.266824	0.31685	N	0.007240	T	0.26774	0.0655	L	0.44542	1.39	0.50467	D	0.999879	P	0.44659	0.84	B	0.28553	0.091	T	0.10543	-1.0625	10	0.38643	T	0.18	-24.5734	16.3336	0.83051	0.0:1.0:0.0:0.0	.	97	O14613	BORG1_HUMAN	L	97	ENSP00000279249:P97L;ENSP00000431660:P97L;ENSP00000442534:P97L	ENSP00000279249:P97L	P	+	2	0	CDC42EP2	64845235	0.004000	0.15560	0.956000	0.39512	0.283000	0.27025	2.001000	0.40825	2.720000	0.93068	0.591000	0.81541	CCG		0.682	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		29	44	0	0	0	1	0	29	44				
CCR6	1235	broad.mit.edu	37	6	167550589	167550589	+	Missense_Mutation	SNP	G	G	A	rs545727839		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:167550589G>A	ENST00000341935.5	+	3	1423	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000349984.4_Missense_Mutation_p.E291K|CCR6_ENST00000400926.2_Missense_Mutation_p.E291K	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	291					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTGCCAGAGCGAAAAGCTAAT	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21932	0.0		0.0	False		,,,				2504	0.0					ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(871-873)Gaa>Aaa		chemokine (C-C motif) receptor 6							140.0	135.0	137.0					6																	167550589		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550589G>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.871G>A	6.37:g.167550589G>A	ENSP00000343952:p.Glu291Lys					CCR6_ENST00000349984.4_Missense_Mutation_p.E291K|CCR6_ENST00000400926.2_Missense_Mutation_p.E291K	p.E291K	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1423	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	291					E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.871G>A	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702646	0.15172	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.36878	1.23;1.23;1.23	4.79	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.549678	0.16424	U	0.215042	T	0.18130	0.0435	L	0.52905	1.665	0.09310	N	1	P	0.39480	0.675	B	0.36808	0.233	T	0.02942	-1.1091	10	0.49607	T	0.09	.	14.095	0.65016	0.0:0.4379:0.5621:0.0	.	291	P51684	CCR6_HUMAN	K	291	ENSP00000383715:E291K;ENSP00000343952:E291K;ENSP00000339393:E291K	ENSP00000343952:E291K	E	+	1	0	CCR6	167470579	0.941000	0.31946	0.001000	0.08648	0.004000	0.04260	1.835000	0.39181	0.502000	0.28037	0.655000	0.94253	GAA		0.483	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			35	66	0	0	0	1	0	35	66				
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs56026824|rs113058116	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGTAGATTGTTATTTCGTTTTT	0.416													A|A|AA|insertion	2465	0.492212	0.497	0.4914	5008	,	,		69600	0.4891		0.4891	False		,,,				2504	0.4928					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145116147_145116148insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116148_145116148dupA										O75396	SC22B_HUMAN			0	1233_1234	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	5						3	5	---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220287663	220287664	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:220287663_220287664insA	ENST00000302637.5	+	12	1591_1592	c.1487_1488insA	c.(1486-1491)ttaaaafs	p.LK496fs	IARS2_ENST00000366922.1_Frame_Shift_Ins_p.LK424fs	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	496					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CAGGAATTGTTAAAAAAGGTGA	0.366																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1270-1272)taafs		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)																																			SO:0001589	frameshift_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220287663_220287664insA	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1493dupA	1.37:g.220287669_220287669dupA	ENSP00000303279:p.Leu496fs					IARS2_ENST00000302637.5_Frame_Shift_Ins_p.*496fs	p.*424fs			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	12	1602_1603	+			496					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Frame_Shift_Ins	INS	ENST00000302637.5	37	c.1271_1272insA	CCDS1523.1																																																																																				0.366	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		22	59						22	59	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38592967	38592977	+	Frame_Shift_Del	DEL	GCGGCCTATTC	GCGGCCTATTC	-	rs199473286|rs199473285|rs201559770|rs199473623		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:38592967_38592977delGCGGCCTATTC	ENST00000333535.4	-	28	5035_5045	c.4886_4896delGAATAGGCCGC	c.(4885-4896)cgaataggccgcfs	p.RIGR1629fs	SCN5A_ENST00000443581.1_Frame_Shift_Del_p.RIGR1628fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.RIGR1611fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000413689.1_Frame_Shift_Del_p.RIGR1629fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.RIGR1628fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.RIGR1596fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.RIGR1611fs|SCN5A_ENST00000464652.1_5'Flank			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1629					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.I1630I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCTGAGGATGCGGCCTATTCGGGCCAGGCG	0.592																																						ENST00000413689.1																			2	Substitution - coding silent(2)	p.I1630I(2)	lung(2)	NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM033023	SCN5A	M		c.(4885-4896)cfs		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592967_38592977delGCGGCCTATTC	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4886_4896delGAATAGGCCGC	3.37:g.38592967_38592977delGCGGCCTATTC	ENSP00000328968:p.Arg1629fs					SCN5A_ENST00000455624.2_Frame_Shift_Del_p.RIGR1596fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.RIGR1611fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.RIGR1611fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000333535.4_Frame_Shift_Del_p.RIGR1629fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.RIGR1628fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.RIGR1628fs	p.RIGR1629fs	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5079_5089	-	Medulloblastoma(35;0.163)		1629					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Frame_Shift_Del	DEL	ENST00000333535.4	37	c.4886_4896delGAATAGGCCGC	CCDS46796.1																																																																																				0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		13	116						13	116	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127836020	127836021	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:127836020_127836021delTG	ENST00000525778.1	-	3	2018_2019	c.1273_1274delCA	c.(1273-1275)cagfs	p.Q425fs	SOGA3_ENST00000556132.1_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.Q425fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	425					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TTCCCCGGTCTGGGCGTAGCGG	0.663																																						ENST00000556132.1																			0											c.(1273-1275)gfs		SOGA family member 3																																				SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127836020_127836021delTG	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1273_1274delCA	6.37:g.127836020_127836021delTG	ENSP00000434570:p.Gln425fs					SOGA3_ENST00000481848.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.Q425fs	p.Q425fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			3	2137_2138	-			425						Frame_Shift_Del	DEL	ENST00000525778.1	37	c.1273_1274delCA	CCDS43505.1																																																																																				0.663	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		30	52						30	52	---	---	---	---
ERICH1-AS1	619343	broad.mit.edu	37	8	844731	844732	+	RNA	INS	-	-	G	rs370162676		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:844731_844732insG	ENST00000524139.1	+	0	151				ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA			P0C838	ERAS1_HUMAN	ERICH1 antisense RNA 1																		GGTGGCTGGCAGGGCAGGGTGG	0.713																																						ENST00000524139.1																			0																																																			0							g.chr8:844731_844732insG	BC022082, BC038783		8p23.3	2012-10-12	2012-08-15	2012-04-16	ENSG00000237647	ENSG00000237647		"""Long non-coding RNAs"""	32290	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 68"", ""ERICH1 antisense RNA 1 (non-protein coding)"""	C8orf68			Standard	NR_073397		Approved		uc003wpj.2	P0C838	OTTHUMG00000163635		8.37:g.844734_844734dupG						ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA								0	151	+									RNA	INS	ENST00000524139.1	37																																																																																						0.713	ERICH1-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000374625.1			4	2						4	2	---	---	---	---
CTD-2281E23.3	0	broad.mit.edu	37	8	1197168	1197168	+	lincRNA	DEL	G	G	-	rs67975971		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:1197168delG	ENST00000517950.1	-	0	278																											AGATCAGTGTGGGAGTGATGG	0.592																																						ENST00000517950.1																			0																																																			0							g.chr8:1197168delG																													8.37:g.1197168delG														0	278	-									RNA	DEL	ENST00000517950.1	37																																																																																						0.592	CTD-2281E23.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374676.1			2	4						2	4	---	---	---	---
MIRLET7DHG	158257	broad.mit.edu	37	9	96941099	96941100	+	lincRNA	INS	-	-	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr9:96941099_96941100insA	ENST00000602652.1	+	0	2870				MIRLET7A1_ENST00000362295.2_RNA|MIRLET7DHG_ENST00000416309.2_lincRNA|MIRLET7D_ENST00000362263.1_RNA|MIRLET7F1_ENST00000362202.1_RNA|RP11-2B6.3_ENST00000602703.1_lincRNA																							AGACCAGCAAGAAAAAAAAAAT	0.376																																						ENST00000416309.2																			0																																																			0							g.chr9:96941099_96941100insA																													9.37:g.96941109_96941109dupA						RP11-2B6.3_ENST00000602703.1_lincRNA		NR_046163.1						0	164	-									RNA	INS	ENST00000602652.1	37																																																																																						0.376	RP11-2B6.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467606.1			2	4						2	4	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135946658	135946658	+	Frame_Shift_Del	DEL	C	C	-	rs193922638		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr9:135946658delC	ENST00000372080.4	+	11	1794	c.1778delC	c.(1777-1779)gccfs	p.A593fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.A524fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	590	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACTCCGGGGCCCCCCCCGTG	0.816																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1777-1779)gcfs		carboxyl ester lipase				18,10,1820		7,0,4,1,8,904	2.0	3.0	2.0			1.3	0.0	9		3	49,44,4793		4,1,40,6,31,2361	no	codingComplex	CEL	NM_001807.3		11,1,44,7,39,3265	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9034,1.5152,1.7969			135946658	67,54,6613	1177	3008	4185	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946658delC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1778delC	9.37:g.135946658delC	ENSP00000361151:p.Ala593fs					CEL_ENST00000351304.7_Frame_Shift_Del_p.A524fs	p.A593fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	1794	+			590			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.1778delC	CCDS43896.1																																																																																				0.816	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			2	4						2	4	---	---	---	---
SAPCD2	89958	broad.mit.edu	37	9	139954080	139954080	+	IGR	DEL	T	T	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr9:139954080delT	ENST00000409687.3	-	0	3843				RP11-229P13.22_ENST00000435463.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2							cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											ATTGCTTTAATTTTTTTTAAA	0.418																																						ENST00000435463.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr9:139954080delT	BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961		9.37:g.139954080delT														0	167	+									RNA	DEL	ENST00000409687.3	37		CCDS7027.2																																																																																				0.418	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2	NM_178448		2	4						2	4	---	---	---	---
NET1	10276	broad.mit.edu	37	10	5496339	5496341	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:5496339_5496341delCTC	ENST00000355029.4	+	9	1022_1024	c.880_882delCTC	c.(880-882)ctcdel	p.L294del	NET1_ENST00000380359.3_In_Frame_Del_p.L240del|NET1_ENST00000542715.1_In_Frame_Del_p.L113del	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	294	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L240I(1)|p.L294I(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAGCGATGTCTCGAGTCTCCCT	0.433																																						ENST00000355029.4																			2	Substitution - Missense(2)	p.L240I(1)|p.L294I(1)	large_intestine(2)	breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(880-882)del		neuroepithelial cell transforming 1																																				SO:0001651	inframe_deletion	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5496339_5496341delCTC	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.880_882delCTC	10.37:g.5496339_5496341delCTC	ENSP00000347134:p.Leu294del					NET1_ENST00000380359.3_In_Frame_Del_p.L240del|NET1_ENST00000542715.1_In_Frame_Del_p.L113del	p.L294del	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			9	1022_1024	+			294			DH.		Q12773|Q96D82|Q99903|Q9UEN6	In_Frame_Del	DEL	ENST00000355029.4	37	c.880_882delCTC	CCDS41483.1																																																																																				0.433	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		22	27						22	27	---	---	---	---
DGKZ	8525	broad.mit.edu	37	11	46388900	46388900	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:46388900delC	ENST00000454345.1	+	3	913	c.788delC	c.(787-789)gccfs	p.A263fs	DGKZ_ENST00000343674.6_Frame_Shift_Del_p.A91fs|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000395574.3_Frame_Shift_Del_p.A40fs|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000532868.2_Frame_Shift_Del_p.A79fs|DGKZ_ENST00000318201.8_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000456247.2_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000527911.1_Frame_Shift_Del_p.A74fs	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	263					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACCCCTGGGGCCCCGTGCAGC	0.662																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(787-789)gcfs		diacylglycerol kinase, zeta							26.0	30.0	29.0					11																	46388900		2194	4297	6491	SO:0001589	frameshift_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46388900delC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.788delC	11.37:g.46388900delC	ENSP00000412178:p.Ala263fs					DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Frame_Shift_Del_p.A40fs|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000532868.2_Frame_Shift_Del_p.A79fs|DGKZ_ENST00000318201.8_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000421244.2_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000456247.2_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000343674.6_Frame_Shift_Del_p.A91fs|DGKZ_ENST00000527911.1_Frame_Shift_Del_p.A74fs	p.A263fs	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	3	913	+			263					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Frame_Shift_Del	DEL	ENST00000454345.1	37	c.788delC	CCDS41640.1																																																																																				0.662	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		21	29						21	29	---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG	rs570843986	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:2062350_2062351insTGG	ENST00000280665.6	-	7	834_835	c.755_756insCCA	c.(754-756)cag>caCCAg	p.251_252insH	DCP1B_ENST00000540622.1_In_Frame_Ins_p.125_126insH|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251	Poly-Gln.			H -> HQ (in Ref. 1; AAN62764, 2; BAB71118 and 4; AAH15368/AAH43437). {ECO:0000305}.	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55																																						ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)cca>cCCAca		decapping mRNA 1B																																				SO:0001652	inframe_insertion	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350_2062351insTGG	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.753_755dupCCA	12.37:g.2062354_2062356dupTGG	ENSP00000280665:p.His251_His251dup					DCP1B_ENST00000540622.1_In_Frame_Ins_p.126_127insT|DCP1B_ENST00000397173.4_In_Frame_Ins_p.150_151insT|DCP1B_ENST00000541700.1_5'UTR	p.252_253insT	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	834_835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	In_Frame_Ins	INS	ENST00000280665.6	37	c.755_756insCCA	CCDS31727.1																																																																																				0.550	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		22	34						22	34	---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99641543	99641544	+	In_Frame_Ins	INS	-	-	CTC			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr14:99641543_99641544insCTC	ENST00000357195.3	-	4	1638_1639	c.1629_1630insGAG	c.(1627-1632)gagctg>gagGAGctg	p.543_544insE	BCL11B_ENST00000443726.2_In_Frame_Ins_p.349_350insE|BCL11B_ENST00000345514.2_In_Frame_Ins_p.472_473insE	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543	Glu-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCCAGTAGCAGctcctcctcct	0.698			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1414-1419)gatgct>gaGAGtgct		B-cell CLL/lymphoma 11B (zinc finger protein)																																				SO:0001652	inframe_insertion	64919					nucleus	zinc ion binding	g.chr14:99641543_99641544insCTC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1627_1629dupGAG	14.37:g.99641550_99641552dupCTC	ENSP00000349723:p.Glu543_Glu543dup					BCL11B_ENST00000443726.2_In_Frame_Ins_p.349_349D>ES|BCL11B_ENST00000357195.3_In_Frame_Ins_p.543_543D>ES	p.472_472D>ES	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1682_1683	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	543					Q9H162	In_Frame_Ins	INS	ENST00000357195.3	37	c.1416_1417insGAG	CCDS9950.1																																																																																				0.698	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		3	5						3	5	---	---	---	---
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T	rs372975149		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402				U8_ENST00000384701.1_RNA	NR_026859.1				ULK4 pseudogene 3																		TGCCTCAAAAGTTTTTTTTTTT	0.297																																						ENST00000568486.1																			0																																																			0							g.chr15:30406088_30406089insT	BC023564		15q13.2	2014-03-20	2013-09-12	2011-11-25	ENSG00000178081	ENSG00000178081			15777	pseudogene	pseudogene			"""family with sequence similarity 7, member A3"", ""unc-51-like kinase 4 (C. elegans) pseudogene 3"""	FAM7A3		11829490	Standard	NR_026859		Approved	D-X	uc001zdk.3		OTTHUMG00000175637		15.37:g.30406099_30406099dupT								NR_026859.1						0	402	+									RNA	INS	ENST00000568486.1	37																																																																																						0.297	ULK4P3-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000430688.1			4	8						4	8	---	---	---	---
SPIRE2	84501	broad.mit.edu	37	16	89895123	89895123	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89895123delG	ENST00000378247.3	+	1	208	c.165delG	c.(163-165)ccgfs	p.P55fs	SPIRE2_ENST00000564878.1_Intron|SPIRE2_ENST00000563972.1_Frame_Shift_Del_p.P55fs|SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.P55fs	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	55	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGGGCTCGCCGGGCCGGCGCC	0.781																																						ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(163-165)ccfs		spire-type actin nucleation factor 2							3.0	4.0	4.0					16																	89895123		1584	3199	4783	SO:0001589	frameshift_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89895123delG	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.165delG	16.37:g.89895123delG	ENSP00000367494:p.Pro55fs					SPIRE2_ENST00000564878.1_Intron|SPIRE2_ENST00000563972.1_Frame_Shift_Del_p.P55fs|SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.P55fs	p.P55fs	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	1	208	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	55			KIND.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Frame_Shift_Del	DEL	ENST00000378247.3	37	c.165delG	CCDS32516.1																																																																																				0.781	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		2	4						2	4	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129149592	129149592	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:129149592delG	ENST00000218147.7	+	4	3041	c.2844delG	c.(2842-2844)cagfs	p.Q948fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.Q948fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.Q948fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.Q948fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	948					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAATGAATCAGGGGCCTGAGG	0.577																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2842-2844)cafs		BCL6 corepressor-like 1							62.0	58.0	60.0					X																	129149592		2203	4300	6503	SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149592delG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2844delG	X.37:g.129149592delG	ENSP00000218147:p.Gln948fs					BCORL1_ENST00000218147.7_Frame_Shift_Del_p.Q948fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.Q948fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.Q948fs	p.Q948fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	2888	+			948					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.2844delG	CCDS14616.1																																																																																				0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		39	79						39	79	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129190033	129190034	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:129190033_129190034delTG	ENST00000218147.7	+	13	5255_5256	c.5058_5059delTG	c.(5056-5061)actgtgfs	p.V1687fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.V1557fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.V1687fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.V1761fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1687					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCTCTGAGACTGTGGAGCTGGT	0.619																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(5056-5061)actgfs		BCL6 corepressor-like 1																																				SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129190033_129190034delTG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5058_5059delTG	X.37:g.129190035_129190036delTG	ENSP00000218147:p.Val1687fs					BCORL1_ENST00000218147.7_Frame_Shift_Del_p.TV1686fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.TV1760fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.TV1556fs	p.TV1686fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			12	5102_5103	+			1686					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.5058_5059delTG	CCDS14616.1																																																																																				0.619	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		26	67						26	67	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	155						7	155	---	---	---	---
