#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
ARHGEF10	9639	broad.mit.edu	37	8	1871979	1871979	+	Silent	SNP	G	G	A	rs533238205		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr8:1871979G>A	ENST00000398564.1	+	21	2502	c.2502G>A	c.(2500-2502)acG>acA	p.T834T	ARHGEF10_ENST00000518288.1_Silent_p.T833T|ARHGEF10_ENST00000262112.6_Silent_p.T834T|ARHGEF10_ENST00000520359.1_Silent_p.T771T|ARHGEF10_ENST00000349830.3_Silent_p.T809T			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	834					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGTTCAATACGTTCACCCCTG	0.517																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2497-2499)acG>acA		Rho guanine nucleotide exchange factor (GEF) 10							141.0	109.0	120.0					8																	1871979		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1871979G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2502G>A	8.37:g.1871979G>A						ARHGEF10_ENST00000349830.3_Silent_p.T809T|ARHGEF10_ENST00000520359.1_Silent_p.T771T|ARHGEF10_ENST00000262112.6_Silent_p.T834T|ARHGEF10_ENST00000398564.1_Silent_p.T834T	p.T833T			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	22	2662	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	834					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.2499G>A																																																																																					0.517	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				15	62	0	0	0	1	0	15	62				
PCSK9	255738	broad.mit.edu	37	1	55512217	55512217	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:55512217G>A	ENST00000302118.5	+	3	711	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PCSK9_ENST00000452118.2_Missense_Mutation_p.D141N|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	141					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCCCCATGTCGACTACATCGA	0.602																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(421-423)Gac>Aac		proprotein convertase subtilisin/kexin type 9							96.0	97.0	96.0					1																	55512217		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55512217G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.421G>A	1.37:g.55512217G>A	ENSP00000303208:p.Asp141Asn					PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.D141N	p.D141N	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			3	711	+			141					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.421G>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950807	0.34471	.	.	ENSG00000169174	ENST00000302118;ENST00000452118	T;T	0.72505	-0.66;-0.66	4.73	-1.29	0.09288	Proteinase inhibitor, propeptide (1);Proteinase inhibitor I9, subtilisin propeptide (1);	0.545520	0.16955	N	0.192711	T	0.56702	0.2003	L	0.52573	1.65	0.29736	N	0.837496	P	0.49447	0.924	B	0.38296	0.27	T	0.57470	-0.7806	10	0.56958	D	0.05	-6.3274	8.0311	0.30465	0.1477:0.3988:0.4535:0.0	.	141	Q8NBP7	PCSK9_HUMAN	N	141	ENSP00000303208:D141N;ENSP00000401598:D141N	ENSP00000303208:D141N	D	+	1	0	PCSK9	55284805	0.358000	0.24947	0.023000	0.16930	0.494000	0.33585	1.067000	0.30616	-0.223000	0.09943	0.561000	0.74099	GAC		0.602	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		33	48	0	0	0	1	0	33	48				
WNT9B	7484	broad.mit.edu	37	17	44953734	44953734	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:44953734T>A	ENST00000290015.2	+	4	777	c.724T>A	c.(724-726)Tat>Aat	p.Y242N	WNT9B_ENST00000393461.2_Missense_Mutation_p.Y242N	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	242					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAAACTGCGCTATGACTCGGC	0.647																																						ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(724-726)Tat>Aat		wingless-type MMTV integration site family, member 9B							74.0	65.0	68.0					17																	44953734		2203	4300	6503	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44953734T>A	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.724T>A	17.37:g.44953734T>A	ENSP00000290015:p.Tyr242Asn					WNT9B_ENST00000290015.2_Missense_Mutation_p.Y242N	p.Y242N			O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	777	+			242					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.724T>A	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845141	0.71603	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	D;D	0.83075	-1.68;-1.68	4.56	3.47	0.39725	.	0.065224	0.64402	D	0.000005	D	0.92244	0.7540	H	0.97291	3.975	0.80722	D	1	D;P	0.58268	0.982;0.918	P;P	0.58077	0.832;0.694	D	0.92664	0.6144	10	0.87932	D	0	.	10.2124	0.43150	0.0:0.0787:0.0:0.9213	.	242;242	E7EPC3;O14905	.;WNT9B_HUMAN	N	236;242;242	ENSP00000377105:Y242N;ENSP00000290015:Y242N	ENSP00000290015:Y242N	Y	+	1	0	WNT9B	42308733	1.000000	0.71417	0.990000	0.47175	0.530000	0.34684	6.132000	0.71676	0.784000	0.33661	0.459000	0.35465	TAT		0.647	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		37	46	0	0	0	1	0	37	46				
ILDR1	286676	broad.mit.edu	37	3	121724124	121724124	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:121724124C>T	ENST00000344209.5	-	3	472	c.346G>A	c.(346-348)Gat>Aat	p.D116N	ILDR1_ENST00000273691.3_Missense_Mutation_p.D116N|ILDR1_ENST00000462014.1_Missense_Mutation_p.D128N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D116N|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	116	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGCCGGTAATCTACCCCCAGC	0.652																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(346-348)Gat>Aat		immunoglobulin-like domain containing receptor 1							39.0	38.0	38.0					3																	121724124		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121724124C>T	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.346G>A	3.37:g.121724124C>T	ENSP00000345667:p.Asp116Asn					ILDR1_ENST00000344209.5_Missense_Mutation_p.D116N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D128N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D116N	p.D116N	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	451	-			116			Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.346G>A	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530610	0.85706	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.087482	0.85682	D	0.000000	T	0.63474	0.2514	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71656	0.974;0.922;0.964;0.974	T	0.58847	-0.7564	10	0.36615	T	0.2	-18.4019	17.5361	0.87832	0.0:1.0:0.0:0.0	.	116;116;116;128	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	N	116;116;116;128	ENSP00000273691:D116N;ENSP00000345667:D116N;ENSP00000377251:D116N;ENSP00000419414:D128N	ENSP00000273691:D116N	D	-	1	0	ILDR1	123206814	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.442000	0.80503	2.802000	0.96397	0.563000	0.77884	GAT		0.652	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		13	26	0	0	0	1	0	13	26				
FAM111A	63901	broad.mit.edu	37	11	58920290	58920290	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:58920290T>G	ENST00000528737.1	+	5	3967	c.1149T>G	c.(1147-1149)tgT>tgG	p.C383W	FAM111A_ENST00000420244.1_Missense_Mutation_p.C383W|FAM111A_ENST00000533703.1_Missense_Mutation_p.C383W|FAM111A_ENST00000531147.1_Missense_Mutation_p.C383W|FAM111A_ENST00000361723.3_Missense_Mutation_p.C383W			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	383	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTTTAACTTGTCGGCATGTAA	0.428																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1147-1149)tgT>tgG		family with sequence similarity 111, member A							141.0	139.0	140.0					11																	58920290		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920290T>G	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1149T>G	11.37:g.58920290T>G	ENSP00000434435:p.Cys383Trp					FAM111A_ENST00000361723.3_Missense_Mutation_p.C383W|FAM111A_ENST00000420244.1_Missense_Mutation_p.C383W|FAM111A_ENST00000531147.1_Missense_Mutation_p.C383W|FAM111A_ENST00000533703.1_Missense_Mutation_p.C383W	p.C383W			Q96PZ2	F111A_HUMAN			5	3967	+		all_epithelial(135;0.139)	383					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1149T>G	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137283	0.56936	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	5.73	2.09	0.27110	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.183305	0.48286	D	0.000188	D	0.92087	0.7492	M	0.78049	2.395	0.41594	D	0.98881	D	0.89917	1.0	D	0.91635	0.999	D	0.88894	0.3348	10	0.87932	D	0	-20.7052	3.6444	0.08178	0.1549:0.2552:0.0:0.5899	.	383	Q96PZ2	F111A_HUMAN	W	383	ENSP00000434435:C383W;ENSP00000406683:C383W;ENSP00000355264:C383W;ENSP00000433154:C383W;ENSP00000431631:C383W	ENSP00000355264:C383W	C	+	3	2	FAM111A	58676866	0.051000	0.20477	0.052000	0.19188	0.895000	0.52256	0.057000	0.14279	0.161000	0.19458	0.533000	0.62120	TGT		0.428	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		14	86	0	0	0	1	0	14	86				
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs376509101|rs62639301	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q223Q|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10.0	13.0	12.0					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039779G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A						SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q	p.Q223Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	223			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.669G>A	CCDS34977.1																																																																																				0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	29	0	0	0	1	0	4	29				
F12	2161	broad.mit.edu	37	5	176832137	176832137	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:176832137T>C	ENST00000253496.3	-	6	495	c.447A>G	c.(445-447)atA>atG	p.I149M	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	149	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	TTCTATACCATATCTCATTCT	0.552									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(445-447)atA>atG		coagulation factor XII (Hageman factor)							64.0	66.0	66.0					5																	176832137		2203	4300	6503	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176832137T>C	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.447A>G	5.37:g.176832137T>C	ENSP00000253496:p.Ile149Met						p.I149M	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	495	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	149			Fibronectin type-I.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.447A>G	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	T	5.414	0.261503	0.10239	.	.	ENSG00000131187	ENST00000253496	T	0.43688	0.94	5.86	-8.32	0.00996	Fibronectin, type I (4);	1.030140	0.07709	N	0.941689	T	0.23054	0.0557	L	0.40543	1.245	0.09310	N	0.999998	B	0.26002	0.139	B	0.21917	0.037	T	0.29305	-1.0016	10	0.45353	T	0.12	.	1.2123	0.01907	0.3255:0.3302:0.1455:0.1988	.	149	P00748	FA12_HUMAN	M	149	ENSP00000253496:I149M	ENSP00000253496:I149M	I	-	3	3	F12	176764743	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.164000	0.03135	-0.926000	0.03770	-0.290000	0.09829	ATA		0.552	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			18	35	0	0	0	1	0	18	35				
LIPT1	51601	broad.mit.edu	37	2	99778887	99778887	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:99778887T>C	ENST00000393473.2	+	3	691	c.467T>C	c.(466-468)cTt>cCt	p.L156P	LIPT1_ENST00000393477.3_Missense_Mutation_p.L156P|LIPT1_ENST00000393471.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393474.3_Missense_Mutation_p.L156P|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Missense_Mutation_p.L156P	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	156	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	GACCTTTTACTTGATGGACAG	0.413																																					GBM(84;665 1268 21657 25485 30647)	ENST00000393477.3																			0				large_intestine(6)|lung(1)	7						c.(466-468)cTt>cCt		lipoyltransferase 1	Lipoic Acid(DB00166)						102.0	95.0	98.0					2																	99778887		2203	4300	6503	SO:0001583	missense	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99778887T>C	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.467T>C	2.37:g.99778887T>C	ENSP00000377115:p.Leu156Pro					MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393473.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393474.3_Missense_Mutation_p.L156P|LIPT1_ENST00000340066.1_Missense_Mutation_p.L156P	p.L156P	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN			4	819	+			156					Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	c.467T>C	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847017	0.71603	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000434566	D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.07	5.07	0.68467	Biotin/lipoate A/B protein ligase (1);	0.000000	0.64402	D	0.000001	D	0.97458	0.9168	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98266	1.0501	10	0.87932	D	0	-13.6363	14.1595	0.65438	0.0:0.0:0.0:1.0	.	156	Q9Y234	LIPT_HUMAN	P	156	ENSP00000377115:L156P;ENSP00000377118:L156P;ENSP00000377116:L156P;ENSP00000342071:L156P;ENSP00000377114:L156P;ENSP00000393591:L156P	ENSP00000342071:L156P	L	+	2	0	LIPT1	99145319	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.819000	0.86621	2.129000	0.65627	0.528000	0.53228	CTT		0.413	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		10	58	0	0	0	1	0	10	58				
COL6A2	1292	broad.mit.edu	37	21	47552223	47552223	+	Silent	SNP	C	C	T	rs368164391		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:47552223C>T	ENST00000300527.4	+	28	2921	c.2817C>T	c.(2815-2817)caC>caT	p.H939H		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	939	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGAGGCACGCAGAGCTGT	0.657																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2815-2817)caC>caT		collagen, type VI, alpha 2		C		0,4402		0,0,2201	33.0	35.0	34.0		2817	2.3	0.9	21		34	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous	COL6A2	NM_001849.3		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		939/1020	47552223	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552223C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2817C>T	21.37:g.47552223C>T							p.H939H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2921	+	Breast(49;0.245)		939			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2817C>T	CCDS13728.1																																																																																				0.657	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			13	17	0	0	0	1	0	13	17				
VPS4B	9525	broad.mit.edu	37	18	61067363	61067363	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr18:61067363A>C	ENST00000238497.5	-	7	911	c.708T>G	c.(706-708)atT>atG	p.I236M	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	236					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGAGAGAATCAATTTCATCAA	0.343																																						ENST00000238497.5																			0				breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(706-708)atT>atG		vacuolar protein sorting 4 homolog B (S. cerevisiae)							76.0	79.0	78.0					18																	61067363		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61067363A>C	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.708T>G	18.37:g.61067363A>C	ENSP00000238497:p.Ile236Met					VPS4B_ENST00000591383.1_5'UTR	p.I236M	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN			7	911	-			236					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.708T>G	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.821309	0.71028	.	.	ENSG00000119541	ENST00000238497	D	0.97016	-4.21	5.84	1.04	0.20106	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.89478	3.035	0.80722	D	1	B;B;B	0.31879	0.344;0.344;0.064	P;P;P	0.57776	0.827;0.827;0.719	D	0.96700	0.9517	10	0.87932	D	0	-23.4089	5.0916	0.14711	0.5641:0.0:0.2813:0.1546	.	236;236;236	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	M	236	ENSP00000238497:I236M	ENSP00000238497:I236M	I	-	3	3	VPS4B	59218343	0.453000	0.25721	1.000000	0.80357	0.983000	0.72400	-0.203000	0.09438	0.480000	0.27534	0.482000	0.46254	ATT		0.343	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		26	26	0	0	0	1	0	26	26				
PTPN23	25930	broad.mit.edu	37	3	47452431	47452431	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:47452431C>G	ENST00000265562.4	+	20	3220	c.3143C>G	c.(3142-3144)cCa>cGa	p.P1048R	PTPN23_ENST00000431726.1_Missense_Mutation_p.P922R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1048	His.|Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCATCCCCCACTGGCATAT	0.672																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(3142-3144)cCa>cGa		protein tyrosine phosphatase, non-receptor type 23							25.0	29.0	28.0					3																	47452431		2203	4298	6501	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47452431C>G	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3143C>G	3.37:g.47452431C>G	ENSP00000265562:p.Pro1048Arg					PTPN23_ENST00000431726.1_Missense_Mutation_p.P922R	p.P1048R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	3220	+			1048			His.|Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.3143C>G	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	2.943	-0.218442	0.06101	.	.	ENSG00000076201	ENST00000265562	T	0.02863	4.13	4.48	3.59	0.41128	.	1.497460	0.03868	N	0.275161	T	0.02649	0.0080	N	0.14661	0.345	0.29515	N	0.853959	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42481	-0.9449	10	0.10902	T	0.67	-2.9851	11.4144	0.49943	0.3243:0.6757:0.0:0.0	.	922;1048	B4DST5;Q9H3S7	.;PTN23_HUMAN	R	1048	ENSP00000265562:P1048R	ENSP00000265562:P1048R	P	+	2	0	PTPN23	47427435	0.000000	0.05858	0.198000	0.23420	0.032000	0.12392	0.212000	0.17497	1.063000	0.40649	0.563000	0.77884	CCA		0.672	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		24	28	0	0	0	1	0	24	28				
STAG1	10274	broad.mit.edu	37	3	136323151	136323151	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:136323151C>T	ENST00000383202.2	-	4	553	c.297G>A	c.(295-297)caG>caA	p.Q99Q	STAG1_ENST00000236698.5_Splice_Site_p.Q99Q|STAG1_ENST00000480733.1_Splice_Site_p.Q99Q|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	99					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TAAAATTTACCTGCATTGCAC	0.403																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.e4+1		stromal antigen 1							136.0	133.0	134.0					3																	136323151		2203	4300	6503	SO:0001630	splice_region_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136323151C>T	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.297+1G>A	3.37:g.136323151C>T						STAG1_ENST00000236698.5_Splice_Site_p.Q99_splice|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Splice_Site_p.Q99_splice	p.Q99_splice	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			4	553	-			99					O00539|Q6P275	Splice_Site	SNP	ENST00000383202.2	37	c.297_splice	CCDS3090.1																																																																																				0.403	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	Silent	43	48	0	0	0	1	0	43	48				
MAPK4	5596	broad.mit.edu	37	18	48190668	48190668	+	Missense_Mutation	SNP	C	C	T	rs186595195		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr18:48190668C>T	ENST00000400384.2	+	2	1376	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.R114C(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGACCTGGCACGCCTGCTGGA	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.0					ENST00000400384.2																			1	Substitution - Missense(1)	p.R114C(1)	skin(1)	lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(340-342)Cgc>Tgc		mitogen-activated protein kinase 4							68.0	70.0	69.0					18																	48190668		2198	4296	6494	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190668C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.340C>T	18.37:g.48190668C>T	ENSP00000383234:p.Arg114Cys					MAPK4_ENST00000587823.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C|MAPK4_ENST00000540640.1_Intron	p.R114C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	2	1376	+		Colorectal(6;0.0297)	114			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.340C>T	CCDS42437.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.13	2.443101	0.43326	.	.	ENSG00000141639	ENST00000400384	T	0.45276	0.9	5.87	3.1	0.35709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.374522	0.26522	N	0.023911	T	0.41026	0.1141	M	0.73430	2.235	0.41683	D	0.989308	B;B	0.18863	0.031;0.031	B;B	0.19391	0.025;0.025	T	0.27226	-1.0080	10	0.51188	T	0.08	-13.1557	7.513	0.27585	0.1353:0.7181:0.0:0.1466	.	114;114	Q0VG04;P31152	.;MK04_HUMAN	C	114	ENSP00000383234:R114C	ENSP00000383234:R114C	R	+	1	0	MAPK4	46444666	0.980000	0.34600	0.006000	0.13384	0.992000	0.81027	2.624000	0.46444	0.381000	0.24851	-0.215000	0.12644	CGC		0.612	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		44	55	0	0	0	1	0	44	55				
PTGFRN	5738	broad.mit.edu	37	1	117491980	117491980	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:117491980G>A	ENST00000393203.2	+	4	1146	c.999G>A	c.(997-999)cgG>cgA	p.R333R		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	333	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGTTGGCGCGGCTTGACCGTG	0.577																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(997-999)cgG>cgA		prostaglandin F2 receptor inhibitor							109.0	90.0	97.0					1																	117491980		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117491980G>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.999G>A	1.37:g.117491980G>A							p.R333R	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	4	1146	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	333			Ig-like C2-type 3.		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.999G>A	CCDS890.1																																																																																				0.577	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		42	54	0	0	0	1	0	42	54				
DNAH5	1767	broad.mit.edu	37	5	13865875	13865875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:13865875G>T	ENST00000265104.4	-	27	4361	c.4257C>A	c.(4255-4257)taC>taA	p.Y1419*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1419	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGACACTGTTGTACAGAGTAT	0.353									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4255-4257)taC>taA		dynein, axonemal, heavy chain 5							55.0	57.0	57.0					5																	13865875		2203	4299	6502	SO:0001587	stop_gained	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13865875G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4257C>A	5.37:g.13865875G>T	ENSP00000265104:p.Tyr1419*					CTB-51A17.1_ENST00000503244.1_RNA	p.Y1419*	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			27	4361	-	Lung NSC(4;0.00476)		1419			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.4257C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	45	11.718028	0.99594	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.9	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1935	0.43041	0.3034:0.0:0.6966:0.0	.	.	.	.	X	1419	.	ENSP00000265104:Y1419X	Y	-	3	2	DNAH5	13918875	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.847000	0.55895	0.784000	0.33661	0.650000	0.86243	TAC		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		21	19	1	0	8.10497e-08	1	8.62452e-08	21	19				
ARPP21	10777	broad.mit.edu	37	3	35778809	35778809	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:35778809G>A	ENST00000187397.4	+	16	2055	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	ARPP21_ENST00000444190.1_Silent_p.Q479Q|ARPP21_ENST00000337271.5_Silent_p.Q479Q|ARPP21_ENST00000417925.1_Silent_p.Q499Q|ARPP21_ENST00000458225.1_Silent_p.Q499Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	533	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCCAACAGCAGGTCCAGCCAC	0.647																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1597-1599)caG>caA		cAMP-regulated phosphoprotein, 21kDa							26.0	29.0	28.0					3																	35778809		2198	4286	6484	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35778809G>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1599G>A	3.37:g.35778809G>A						ARPP21_ENST00000458225.1_Silent_p.Q499Q|ARPP21_ENST00000337271.5_Silent_p.Q479Q|ARPP21_ENST00000417925.1_Silent_p.Q499Q|ARPP21_ENST00000444190.1_Silent_p.Q479Q	p.Q533Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			16	2055	+			533			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.1599G>A	CCDS2661.1																																																																																				0.647	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		21	30	0	0	0	1	0	21	30				
AHNAK	79026	broad.mit.edu	37	11	62292206	62292206	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:62292206A>G	ENST00000378024.4	-	5	9957	c.9683T>C	c.(9682-9684)cTt>cCt	p.L3228P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3228					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGGCCTTTAAGATTGAGGTC	0.408																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(9682-9684)cTt>cCt		AHNAK nucleoprotein							138.0	136.0	137.0					11																	62292206		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292206A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9683T>C	11.37:g.62292206A>G	ENSP00000367263:p.Leu3228Pro					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.L3228P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9957	-		Melanoma(852;0.155)	3228					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9683T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	14.83	2.651388	0.47362	.	.	ENSG00000124942	ENST00000378024	T	0.02085	4.46	4.32	4.32	0.51571	.	0.000000	0.24686	U	0.036428	T	0.17066	0.0410	H	0.94620	3.56	0.58432	D	0.999999	D	0.76494	0.999	D	0.68192	0.956	T	0.04664	-1.0935	10	0.45353	T	0.12	-23.0631	13.1503	0.59486	1.0:0.0:0.0:0.0	.	3228	Q09666	AHNK_HUMAN	P	3228	ENSP00000367263:L3228P	ENSP00000367263:L3228P	L	-	2	0	AHNAK	62048782	0.951000	0.32395	0.450000	0.26969	0.590000	0.36582	8.734000	0.91543	1.587000	0.49959	0.254000	0.18369	CTT		0.408	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		99	68	0	0	0	1	0	99	68				
USP53	54532	broad.mit.edu	37	4	120213506	120213506	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:120213506G>A	ENST00000274030.6	+	19	3541	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	USP53_ENST00000450251.1_Missense_Mutation_p.E788K	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACATGTACATGAAGACAATGG	0.328																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(2362-2364)Gaa>Aaa		ubiquitin specific peptidase 53							50.0	45.0	47.0					4																	120213506		1844	4094	5938	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120213506G>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2362G>A	4.37:g.120213506G>A	ENSP00000274030:p.Glu788Lys					USP53_ENST00000274030.6_Missense_Mutation_p.E788K	p.E788K			Q70EK8	UBP53_HUMAN			15	2906	+			788						Missense_Mutation	SNP	ENST00000274030.6	37	c.2362G>A	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269020	0.59540	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.52526	0.66;0.66	5.76	5.76	0.90799	.	0.501216	0.21447	N	0.074400	T	0.56156	0.1966	M	0.61703	1.905	0.36516	D	0.86988	P	0.52463	0.953	P	0.47603	0.551	T	0.65693	-0.6106	10	0.72032	D	0.01	-24.7808	18.5232	0.90962	0.0:0.0:1.0:0.0	.	788	Q70EK8	UBP53_HUMAN	K	788	ENSP00000274030:E788K;ENSP00000409906:E788K	ENSP00000274030:E788K	E	+	1	0	USP53	120432954	0.999000	0.42202	0.119000	0.21687	0.225000	0.24961	4.259000	0.58828	2.880000	0.98712	0.650000	0.86243	GAA		0.328	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		11	12	0	0	0	1	0	11	12				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514946	95514946	+	RNA	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:95514946C>T	ENST00000432432.2	-	0	711				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R201Q(1)									ACTACTGTACCGTCTCAGCCT	0.308																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.R201Q(1)	prostate(1)																																																0							g.chr2:95514946C>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95514946C>T								NR_040113.1						0	711	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.308	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	82	0	0	0	1	0	4	82				
SLAIN2	57606	broad.mit.edu	37	4	48385799	48385799	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:48385799C>A	ENST00000264313.6	+	6	1776	c.1358C>A	c.(1357-1359)gCc>gAc	p.A453D	SLAIN2_ENST00000512093.1_Missense_Mutation_p.A260D	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	453					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CAGGCTTCAGCCAGTAAGTAT	0.353																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.(1357-1359)gCc>gAc		SLAIN motif family, member 2							65.0	62.0	63.0					4																	48385799		1852	4096	5948	SO:0001583	missense	57606					centrosome		g.chr4:48385799C>A	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1358C>A	4.37:g.48385799C>A	ENSP00000264313:p.Ala453Asp					SLAIN2_ENST00000512093.1_Missense_Mutation_p.A260D	p.A453D	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN			6	1776	+			453					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.1358C>A	CCDS47051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.599438|4.599438	0.87055|0.87055	.|.	.|.	ENSG00000109171|ENSG00000109171	ENST00000264313;ENST00000512093|ENST00000510595	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.790707|.	0.11400|.	N|.	0.567925|.	T|T	0.74114|0.74114	0.3674|0.3674	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999994|0.999994	D;P|.	0.53619|.	0.961;0.944|.	P;P|.	0.50617|.	0.483;0.646|.	T|T	0.76756|0.76756	-0.2842|-0.2842	9|6	0.10636|0.87932	T|D	0.68|0	-7.6078|-7.6078	18.912|18.912	0.92489|0.92489	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	123;453|.	Q9H705;Q9P270|.	.;SLAI2_HUMAN|.	D|R	453;260|35	.|.	ENSP00000264313:A453D|ENSP00000424473:S35R	A|S	+|+	2|3	0|2	SLAIN2|SLAIN2	48080556|48080556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.924000|6.924000	0.75823|0.75823	2.525000|2.525000	0.85131|0.85131	0.561000|0.561000	0.74099|0.74099	GCC|AGC		0.353	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		6	12	1	0	0.00116845	1	0.00118269	6	12				
TP53	7157	broad.mit.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(29)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCTCCTGACCTGGAGTCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	p.?(29)|p.0?(8)|p.E258fs*71(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e7+1	Other conserved DNA damage response genes	tumor protein p53							121.0	85.0	97.0					17																	7577498		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577498C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.782+1G>A	17.37:g.7577498C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	915	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	27	55	0	0	0	1	0	27	55				
ZNF77	58492	broad.mit.edu	37	19	2934121	2934121	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:2934121C>T	ENST00000314531.4	-	4	1096	c.1004G>A	c.(1003-1005)tGt>tAt	p.C335Y		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGAGTAACAAGTGAACGC	0.488																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1003-1005)tGt>tAt		zinc finger protein 77							122.0	108.0	113.0					19																	2934121		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934121C>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1004G>A	19.37:g.2934121C>T	ENSP00000319053:p.Cys335Tyr						p.C335Y	NM_021217.2	NP_067040.1	Q15935	ZNF77_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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1096	-			335					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1004G>A	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	1.129	-0.652879	0.03480	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.06371	3.31	3.03	-2.5	0.06384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01765	0.0056	N	0.04320	-0.23	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.45731	-0.9241	9	0.02654	T	1	.	0.3467	0.00342	0.1925:0.2583:0.1902:0.359	.	335	Q15935	ZNF77_HUMAN	Y	129;335	ENSP00000319053:C335Y	ENSP00000319053:C335Y	C	-	2	0	ZNF77	2885121	0.000000	0.05858	0.000000	0.03702	0.784000	0.44337	-2.550000	0.00929	0.014000	0.14944	0.491000	0.48974	TGT		0.488	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		26	7	0	0	0	1	0	26	7				
CNOT4	4850	broad.mit.edu	37	7	135080618	135080618	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr7:135080618C>T	ENST00000315544.5	-	9	1176	c.897G>A	c.(895-897)acG>acA	p.T299T	CNOT4_ENST00000414802.1_Silent_p.T299T|CNOT4_ENST00000451834.1_Silent_p.T296T|CNOT4_ENST00000541284.1_Silent_p.T299T|CNOT4_ENST00000361528.4_Silent_p.T296T|CNOT4_ENST00000423368.2_Silent_p.T299T|CNOT4_ENST00000356162.4_Silent_p.T299T|CNOT4_ENST00000428680.2_Silent_p.T296T	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	299					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTGGTGAAGGCGTATCACTGT	0.368																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(886-888)acG>acA		CCR4-NOT transcription complex, subunit 4							174.0	158.0	163.0					7																	135080618		1896	4114	6010	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135080618C>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.897G>A	7.37:g.135080618C>T						CNOT4_ENST00000361528.4_Silent_p.T296T|CNOT4_ENST00000414802.1_Silent_p.T299T|CNOT4_ENST00000423368.2_Silent_p.T299T|CNOT4_ENST00000451834.1_Silent_p.T296T|CNOT4_ENST00000541284.1_Silent_p.T299T|CNOT4_ENST00000315544.5_Silent_p.T299T|CNOT4_ENST00000356162.4_Silent_p.T299T	p.T296T	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			9	1167	-			299					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.888G>A	CCDS55166.1																																																																																				0.368	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		12	33	0	0	0	1	0	12	33				
NTM	50863	broad.mit.edu	37	11	132180094	132180094	+	Silent	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:132180094A>C	ENST00000374786.1	+	5	1229	c.750A>C	c.(748-750)tcA>tcC	p.S250S	NTM_ENST00000374784.1_Silent_p.S250S|NTM_ENST00000425719.2_Silent_p.S250S|NTM_ENST00000427481.2_Silent_p.S241S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Silent_p.S250S|NTM_ENST00000539799.1_Silent_p.S250S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	250	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAGTCCCCTCAGCAGAATTCC	0.507																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(748-750)tcA>tcC		neurotrimin							164.0	162.0	163.0					11																	132180094		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132180094A>C	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.750A>C	11.37:g.132180094A>C						NTM_ENST00000374791.3_Silent_p.S250S|NTM_ENST00000374784.1_Silent_p.S250S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Silent_p.S250S|NTM_ENST00000427481.2_Silent_p.S241S|NTM_ENST00000539799.1_Silent_p.S250S	p.S250S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			5	1229	+			250			Ig-like C2-type 3.		A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.750A>C	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426470	0.25726	.	.	ENSG00000182667	ENST00000457381	.	.	.	6.07	-12.1	0.00011	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-6.1816	1.6251	0.02721	0.1934:0.3485:0.1776:0.2805	.	.	.	.	P	2	.	.	Q	+	2	0	NTM	131685304	0.000000	0.05858	0.498000	0.27564	0.995000	0.86356	-4.949000	0.00167	-2.158000	0.00788	0.533000	0.62120	CAG		0.507	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		76	78	0	0	0	1	0	76	78				
POLQ	10721	broad.mit.edu	37	3	121260219	121260219	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:121260219T>A	ENST00000264233.5	-	3	579	c.451A>T	c.(451-453)Aaa>Taa	p.K151*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	151	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCTTCTCTTTAGCCACAGAA	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(451-453)Aaa>Taa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							112.0	128.0	122.0					3																	121260219		2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121260219T>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.451A>T	3.37:g.121260219T>A	ENSP00000264233:p.Lys151*						p.K151*	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	3	579	-			151			Helicase ATP-binding.		O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.451A>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	39	7.364750	0.98238	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	.	.	.	5.74	5.74	0.90152	.	0.226724	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0476	0.80731	0.0:0.0:0.0:1.0	.	.	.	.	X	151;286	.	ENSP00000264233:K151X	K	-	1	0	POLQ	122742909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.190000	0.69967	0.460000	0.39030	AAA		0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		47	54	0	0	0	1	0	47	54				
CYP7B1	9420	broad.mit.edu	37	8	65527731	65527731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr8:65527731C>T	ENST00000310193.3	-	4	1082	c.909G>A	c.(907-909)tgG>tgA	p.W303*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	303					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATACATTGCCCAGAACATAG	0.443																																						ENST00000310193.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(907-909)tgG>tgA		cytochrome P450, family 7, subfamily B, polypeptide 1							91.0	83.0	86.0					8																	65527731		2203	4300	6503	SO:0001587	stop_gained	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65527731C>T	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.909G>A	8.37:g.65527731C>T	ENSP00000310721:p.Trp303*					CYP7B1_ENST00000523954.1_5'UTR	p.W303*	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			4	1082	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	303					B2RN07|Q9UNF5	Nonsense_Mutation	SNP	ENST00000310193.3	37	c.909G>A	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	38	7.169508	0.98111	.	.	ENSG00000172817	ENST00000310193	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7769	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000310721:W303X	W	-	3	0	CYP7B1	65690285	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	4.938000	0.63519	2.826000	0.97356	0.655000	0.94253	TGG		0.443	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			4	41	0	0	0	1	0	4	41				
GIMAP4	55303	broad.mit.edu	37	7	150269308	150269308	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr7:150269308C>T	ENST00000255945.2	+	3	325	c.150C>T	c.(148-150)atC>atT	p.I50I	GIMAP4_ENST00000461940.1_Silent_p.I64I|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	50	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.I50>?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAACAGCATCCTTGGCCGGA	0.478																																						ENST00000255945.2																			1	Complex(1)	p.I50>?(1)	skin(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(148-150)atC>atT		GTPase, IMAP family member 4							90.0	88.0	89.0					7																	150269308		2203	4300	6503	SO:0001819	synonymous_variant	55303						GTP binding	g.chr7:150269308C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.150C>T	7.37:g.150269308C>T						GIMAP4_ENST00000461940.1_Silent_p.I64I|GIMAP4_ENST00000494750.1_3'UTR	p.I50I	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	325	+			50						Silent	SNP	ENST00000255945.2	37	c.150C>T	CCDS5904.1																																																																																				0.478	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		19	29	0	0	0	1	0	19	29				
RPS6KA3	6197	broad.mit.edu	37	X	20185863	20185863	+	Silent	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrX:20185863T>C	ENST00000379565.3	-	17	1653	c.1446A>G	c.(1444-1446)gtA>gtG	p.V482V	RPS6KA3_ENST00000379548.4_Silent_p.V452V|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Silent_p.V453V|RPS6KA3_ENST00000544447.1_Silent_p.V454V	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	482	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	CATCATCATATACCTATAAAT	0.274																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.(1444-1446)gtA>gtG		ribosomal protein S6 kinase, 90kDa, polypeptide 3							105.0	114.0	111.0					X																	20185863		2203	4298	6501	SO:0001819	synonymous_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20185863T>C	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1446A>G	X.37:g.20185863T>C						RPS6KA3_ENST00000544447.1_Silent_p.V454V|RPS6KA3_ENST00000379548.4_Silent_p.V452V|RPS6KA3_ENST00000540702.1_Silent_p.V453V|RPS6KA3_ENST00000479809.1_5'UTR	p.V482V	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			17	1653	-			482			Protein kinase 2.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	c.1446A>G	CCDS14197.1																																																																																				0.274	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		3	44	0	0	0	1	0	3	44				
DGKZ	8525	broad.mit.edu	37	11	46397946	46397946	+	Splice_Site	SNP	C	C	T	rs146211585	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:46397946C>T	ENST00000454345.1	+	24	2849	c.2724C>T	c.(2722-2724)gaC>gaT	p.D908D	DGKZ_ENST00000395574.3_Splice_Site_p.D686D|DGKZ_ENST00000528615.1_Splice_Site_p.D498D|DGKZ_ENST00000318201.8_Splice_Site_p.D697D|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000532868.2_Splice_Site_p.D724D|DGKZ_ENST00000421244.2_Splice_Site_p.D720D|DGKZ_ENST00000543978.1_Splice_Site_p.D72D|DGKZ_ENST00000343674.6_Splice_Site_p.D736D|DGKZ_ENST00000456247.2_Splice_Site_p.D719D|DGKZ_ENST00000527911.1_Splice_Site_p.D720D	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	908					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)		GCTTCCTGGACGGTGAGTCTA	0.612																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.e24+1		diacylglycerol kinase, zeta		C	,,,,,,	2,4402	4.2+/-10.8	0,2,2200	134.0	143.0	139.0		2724,2160,2157,2091,2160,2208,2172	-5.6	0.9	11	dbSNP_134	139	1,8597	1.2+/-3.3	0,1,4298	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	,,,,,,	0,3,6498	TT,TC,CC		0.0116,0.0454,0.0231	,,,,,,	908/1118,720/935,719/929,697/907,720/930,736/946,724/934	46397946	3,12999	2202	4299	6501	SO:0001630	splice_region_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.chr11:46397946C>T	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.2725+1C>T	11.37:g.46397946C>T						DGKZ_ENST00000318201.8_Splice_Site_p.D697_splice|DGKZ_ENST00000343674.6_Splice_Site_p.D736_splice|DGKZ_ENST00000532868.2_Splice_Site_p.D724_splice|DGKZ_ENST00000395574.3_Splice_Site_p.D686_splice|DGKZ_ENST00000456247.2_Splice_Site_p.D719_splice|DGKZ_ENST00000528615.1_Splice_Site_p.D498_splice|DGKZ_ENST00000543978.1_Splice_Site_p.D72_splice|DGKZ_ENST00000421244.2_Splice_Site_p.D720_splice|DGKZ_ENST00000527911.1_Splice_Site_p.D720_splice	p.D908_splice	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	24	2849	+			908					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Splice_Site	SNP	ENST00000454345.1	37	c.2725_splice	CCDS41640.1																																																																																				0.612	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	Silent	38	103	0	0	0	1	0	38	103				
MAPK7	5598	broad.mit.edu	37	17	19284178	19284178	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:19284178C>A	ENST00000308406.5	+	4	1042	c.656C>A	c.(655-657)aCt>aAt	p.T219N	MAPK7_ENST00000395604.3_Missense_Mutation_p.T219N|MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000468679.3_5'Flank|B9D1_ENST00000477478.2_5'Flank|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.T80N|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.T219N	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	219	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TACTTCATGACTGAGTATGTG	0.527																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(655-657)aCt>aAt		mitogen-activated protein kinase 7							100.0	85.0	90.0					17																	19284178		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284178C>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.656C>A	17.37:g.19284178C>A	ENSP00000311005:p.Thr219Asn					MAPK7_ENST00000395604.3_Missense_Mutation_p.T219N|MAPK7_ENST00000299612.7_Missense_Mutation_p.T80N|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.T219N	p.T219N	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			4	1042	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		219			Necessary for oligomerization (By similarity).|Protein kinase.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.656C>A	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907779	0.72868	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.88512	2.96	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.87589	0.2489	10	0.87932	D	0	-24.6645	15.5975	0.76599	0.0:1.0:0.0:0.0	.	219	Q13164	MK07_HUMAN	N	219;80;219;219;219	ENSP00000311005:T219N;ENSP00000299612:T80N;ENSP00000412902:T219N;ENSP00000378968:T219N;ENSP00000378966:T219N	ENSP00000299612:T80N	T	+	2	0	MAPK7	19224771	1.000000	0.71417	0.954000	0.39281	0.774000	0.43823	7.592000	0.82676	2.335000	0.79485	0.561000	0.74099	ACT		0.527	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		4	71	1	0	0.00024832	1	0.000257632	4	71				
CDK20	23552	broad.mit.edu	37	9	90584735	90584735	+	Silent	SNP	G	G	A	rs113461285		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:90584735G>A	ENST00000325303.8	-	6	968	c.663C>T	c.(661-663)ggC>ggT	p.G221G	CDK20_ENST00000375883.3_Silent_p.G200G|CDK20_ENST00000336654.5_Silent_p.G213G|CDK20_ENST00000605159.1_Silent_p.G200G|CDK20_ENST00000375871.4_Intron	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						GGTTTGGGGTGCCCAAGATGC	0.577																																						ENST00000375883.3																			0				skin(1)	1						c.(598-600)ggC>ggT		cyclin-dependent kinase 20							99.0	96.0	97.0					9																	90584735		2203	4300	6503	SO:0001819	synonymous_variant	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90584735G>A	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.663C>T	9.37:g.90584735G>A						CDK20_ENST00000325303.8_Silent_p.G221G|CDK20_ENST00000605159.1_Silent_p.G200G|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000336654.5_Silent_p.G213G	p.G200G	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN			5	906	-			221			Protein kinase.		A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Silent	SNP	ENST00000325303.8	37	c.600C>T	CCDS35060.1																																																																																				0.577	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119		43	50	0	0	0	1	0	43	50				
HIST1H2AB	8335	broad.mit.edu	37	6	26033580	26033580	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr6:26033580C>T	ENST00000259791.2	-	1	216	c.217G>A	c.(217-219)Gac>Aac	p.D73N	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	73						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTCTTGTTGTCGCGGGCCGCA	0.647																																						ENST00000259791.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(217-219)Gac>Aac		histone cluster 1, H2ab							59.0	62.0	61.0					6																	26033580		2203	4300	6503	SO:0001583	missense	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033580C>T	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.217G>A	6.37:g.26033580C>T	ENSP00000259791:p.Asp73Asn						p.D73N	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN			1	216	-			73					P28001|Q76P63	Missense_Mutation	SNP	ENST00000259791.2	37	c.217G>A	CCDS4574.1	.	.	.	.	.	.	.	.	.	.	c	28.5	4.922564	0.92319	.	.	ENSG00000137259	ENST00000259791	T	0.67345	-0.26	5.35	5.35	0.76521	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.37136	U	0.002231	T	0.80884	0.4709	.	.	.	0.45227	D	0.998232	D	0.89917	1.0	D	0.91635	0.999	T	0.82754	-0.0301	9	0.72032	D	0.01	.	18.4224	0.90595	0.0:1.0:0.0:0.0	.	73	P04908	H2A1B_HUMAN	N	73	ENSP00000259791:D73N	ENSP00000259791:D73N	D	-	1	0	HIST1H2AB	26141559	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.701000	0.84566	2.648000	0.89879	0.561000	0.74099	GAC		0.647	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		54	54	0	0	0	1	0	54	54				
SOX9	6662	broad.mit.edu	37	17	70120195	70120195	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:70120195G>A	ENST00000245479.2	+	3	1569	c.1197G>A	c.(1195-1197)acG>acA	p.T399T		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	399					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACATCAAGACGGAGCAGCTGA	0.682																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(1195-1197)acG>acA		SRY (sex determining region Y)-box 9							148.0	139.0	142.0					17																	70120195		2203	4300	6503	SO:0001819	synonymous_variant	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70120195G>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1197G>A	17.37:g.70120195G>A							p.T399T	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1569	+		Colorectal(1115;0.245)	399					Q53Y80	Silent	SNP	ENST00000245479.2	37	c.1197G>A	CCDS11689.1																																																																																				0.682	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		10	175	0	0	0	1	0	10	175				
LONRF3	79836	broad.mit.edu	37	X	118109480	118109480	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrX:118109480T>G	ENST00000371628.3	+	1	768	c.737T>G	c.(736-738)cTc>cGc	p.L246R	LONRF3_ENST00000304778.7_Missense_Mutation_p.L246R|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	246							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCGTCGCAACTCCGGCACGAG	0.687																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(736-738)cTc>cGc		LON peptidase N-terminal domain and ring finger 3							15.0	11.0	13.0					X																	118109480		2177	4247	6424	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118109480T>G	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.737T>G	X.37:g.118109480T>G	ENSP00000360690:p.Leu246Arg					LONRF3_ENST00000304778.7_Missense_Mutation_p.L246R|LONRF3_ENST00000371628.3_Missense_Mutation_p.L246R	p.L246R			Q496Y0	LONF3_HUMAN			1	900	+			246					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.737T>G	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.778554	0.70107	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.64085	-0.08;-0.08;-0.08	4.26	4.26	0.50523	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000006	T	0.73682	0.3618	M	0.74647	2.275	0.80722	D	1	D;P	0.55385	0.971;0.919	P;P	0.58266	0.737;0.836	T	0.77501	-0.2564	10	0.72032	D	0.01	-9.6567	12.0456	0.53477	0.0:0.0:0.0:1.0	.	246;246	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	R	246	ENSP00000360691:L246R;ENSP00000307732:L246R;ENSP00000360690:L246R	ENSP00000307732:L246R	L	+	2	0	LONRF3	117993508	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.280000	0.72626	1.702000	0.51228	0.430000	0.28490	CTC		0.687	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		10	0	0	0	0	1	0	10	0				
LINC01410	103352539	broad.mit.edu	37	9	66466226	66466226	+	lincRNA	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:66466226A>G	ENST00000424345.1	+	0	859																											cctagcggagagagagccgga	0.453																																						ENST00000424345.1																			0																																																			0							g.chr9:66466226A>G																													9.37:g.66466226A>G														0	859	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.453	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			3	7	0	0	0	1	0	3	7				
DMBT1	1755	broad.mit.edu	37	10	124339330	124339330	+	Missense_Mutation	SNP	C	C	A	rs568492430	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr10:124339330C>A	ENST00000338354.3	+	10	1022	c.916C>A	c.(916-918)Cat>Aat	p.H306N	DMBT1_ENST00000368956.2_Missense_Mutation_p.H306N|DMBT1_ENST00000368909.3_Missense_Mutation_p.H306N|DMBT1_ENST00000368955.3_Missense_Mutation_p.H306N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.H306N|DMBT1_ENST00000330163.4_Missense_Mutation_p.H306N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	306	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				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)				CTGCTCAGGACATGAGTCCTA	0.607													C|||	10	0.00199681	0.0008	0.0	5008	,	,		18345	0.0		0.005	False		,,,				2504	0.0041				Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			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.(916-918)Cat>Aat		deleted in malignant brain tumors 1							63.0	64.0	64.0					10																	124339330		1890	4107	5997	SO:0001583	missense	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.chr10:124339330C>A		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.916C>A	10.37:g.124339330C>A	ENSP00000342210:p.His306Asn					DMBT1_ENST00000368955.3_Missense_Mutation_p.H306N|DMBT1_ENST00000344338.3_Missense_Mutation_p.H306N|DMBT1_ENST00000368956.2_Missense_Mutation_p.H306N|DMBT1_ENST00000330163.4_Missense_Mutation_p.H306N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.H306N	p.H306N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			10	1022	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	306			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.916C>A		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.271520	0.00257	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	3.94	-0.991	0.10235	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.17238	0.0414	N	0.00493	-1.44	0.09310	N	0.999999	B;B;B;D;B	0.55385	0.002;0.001;0.0;0.971;0.132	B;B;B;P;B	0.58077	0.004;0.003;0.001;0.832;0.18	T	0.06023	-1.0850	9	0.18710	T	0.47	.	0.6102	0.00760	0.366:0.1629:0.122:0.3491	.	306;306;306;306;306	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	N	306	ENSP00000342210:H306N;ENSP00000343175:H306N;ENSP00000327747:H306N;ENSP00000357905:H306N;ENSP00000357951:H306N;ENSP00000357952:H306N	ENSP00000331522:H306N	H	+	1	0	DMBT1	124329320	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.900000	0.01599	-0.010000	0.14271	0.430000	0.28490	CAT		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		6	127	1	0	0.00307968	1	0.00307968	6	127				
SNX29P2	440352	broad.mit.edu	37	16	29339943	29339943	+	lincRNA	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr16:29339943G>A	ENST00000398878.3	+	0	931							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		GCAGGACAGCGAGGTGAGTCA	0.607																																						ENST00000398878.3																			0																																																			0							g.chr16:29339943G>A	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29339943G>A														0	931	+									RNA	SNP	ENST00000398878.3	37																																																																																						0.607	SNX29P2-202	KNOWN	basic	lincRNA	lincRNA		NR_002939		4	2	0	0	0	1	0	4	2				
MYRIP	25924	broad.mit.edu	37	3	40286039	40286039	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:40286039G>A	ENST00000302541.6	+	13	2545	c.2203G>A	c.(2203-2205)Gcg>Acg	p.A735T	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.A646T|MYRIP_ENST00000425621.1_Missense_Mutation_p.A670T|MYRIP_ENST00000539167.1_Missense_Mutation_p.A548T|MYRIP_ENST00000444716.1_Missense_Mutation_p.A735T	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	735	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GACCCATCTGGCGGATCTGGA	0.607																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2203-2205)Gcg>Acg		myosin VIIA and Rab interacting protein							60.0	57.0	58.0					3																	40286039		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40286039G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2203G>A	3.37:g.40286039G>A	ENSP00000301972:p.Ala735Thr					MYRIP_ENST00000425621.1_Missense_Mutation_p.A670T|MYRIP_ENST00000396217.3_Missense_Mutation_p.A646T|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.A548T|MYRIP_ENST00000444716.1_Missense_Mutation_p.A735T	p.A735T	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	13	2545	+			735			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.2203G>A	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143611	0.94603	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.54	4.67	0.58626	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.057956	0.64402	D	0.000002	T	0.55162	0.1903	M	0.62723	1.935	0.45015	D	0.998031	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.87578	0.997;0.998;0.99	T	0.54879	-0.8227	9	.	.	.	.	12.4508	0.55677	0.0817:0.0:0.9183:0.0	.	646;670;735	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	T	735;735;670;646;548	ENSP00000398665:A735T;ENSP00000301972:A735T;ENSP00000389323:A670T;ENSP00000379519:A646T;ENSP00000438297:A548T	.	A	+	1	0	MYRIP	40261043	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	9.318000	0.96334	1.483000	0.48342	0.655000	0.94253	GCG		0.607	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		23	24	0	0	0	1	0	23	24				
ARHGAP5	394	broad.mit.edu	37	14	32562648	32562648	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr14:32562648C>A	ENST00000345122.3	+	2	3088	c.2773C>A	c.(2773-2775)Cat>Aat	p.H925N	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H925N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	925					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCTCAGTATCATCGGCAAAC	0.323																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2773-2775)Cat>Aat		Rho GTPase activating protein 5							86.0	81.0	83.0					14																	32562648		2203	4299	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562648C>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2773C>A	14.37:g.32562648C>A	ENSP00000371897:p.His925Asn					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H925N	p.H925N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3088	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		925					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2773C>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761335	0.49468	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	L	0.36672	1.1	0.80722	D	1	P;P	0.50443	0.935;0.893	P;P	0.55391	0.775;0.601	T	0.01472	-1.1346	10	0.25106	T	0.35	.	20.1225	0.97967	0.0:1.0:0.0:0.0	.	925;925	Q13017-2;Q13017	.;RHG05_HUMAN	N	925	ENSP00000452222:H925N;ENSP00000441692:H925N;ENSP00000371897:H925N;ENSP00000393307:H925N	ENSP00000371897:H925N	H	+	1	0	ARHGAP5	31632399	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.831000	0.97527	0.650000	0.86243	CAT		0.323	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		21	17	1	0	3.62473e-10	1	3.95859e-10	21	17				
TP53	7157	broad.mit.edu	37	17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7578382G>C	ENST00000269305.4	-	5	737	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000420246.2_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	183	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCGCTATCTGAGCAGCGCTC	0.647		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		61	Substitution - Nonsense(33)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)|Substitution - Missense(2)|Insertion - In frame(1)	p.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(1)	lung(14)|upper_aerodigestive_tract(10)|large_intestine(9)|urinary_tract(7)|central_nervous_system(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|stomach(1)|oesophagus(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(547-549)tCa>tGa	Other conserved DNA damage response genes	tumor protein p53							47.0	46.0	47.0					17																	7578382		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578382G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.548C>G	17.37:g.7578382G>C	ENSP00000269305:p.Ser183*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*	p.S183*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	680	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	183		S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.548C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279499	0.59758	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.47	4.49	0.54785	.	0.792587	0.11610	N	0.546873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-5.9105	8.094	0.30818	0.084:0.1611:0.7549:0.0	.	.	.	.	X	183;183;183;183;183;183;172;90;51;90;51	.	ENSP00000269305:S183X	S	-	2	0	TP53	7519107	0.001000	0.12720	0.516000	0.27786	0.577000	0.36160	0.920000	0.28705	1.440000	0.47531	0.563000	0.77884	TCA		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		48	40	0	0	0	1	0	48	40				
CLCNKA	1187	broad.mit.edu	37	1	16357051	16357051	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:16357051C>G	ENST00000331433.4	+	15	1523	c.1504C>G	c.(1504-1506)Ctg>Gtg	p.L502V	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.L459V|CLCNKA_ENST00000375692.1_Missense_Mutation_p.L502V|CLCNKA_ENST00000420078.1_Missense_Mutation_p.L502V			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	502					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACTGCCCGTGCTGATGGCGGT	0.617																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1504-1506)Ctg>Gtg		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						45.0	40.0	42.0					1																	16357051		2203	4297	6500	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16357051C>G		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1504C>G	1.37:g.16357051C>G	ENSP00000332771:p.Leu502Val					CLCNKA_ENST00000439316.2_Missense_Mutation_p.L459V|CLCNKA_ENST00000420078.1_Missense_Mutation_p.L502V|CLCNKA_ENST00000331433.4_Missense_Mutation_p.L502V|CLCNKA_ENST00000464764.1_3'UTR	p.L502V			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	16	1632	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	502					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1504C>G	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383746	0.42308	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	3.89	2.97	0.34412	Chloride channel, core (2);	0.072326	0.56097	D	0.000025	D	0.93739	0.7999	L	0.50919	1.6	0.47819	D	0.999522	P;P;P;P	0.52061	0.95;0.857;0.857;0.857	P;P;P;P	0.55303	0.773;0.597;0.597;0.597	D	0.92222	0.5785	10	0.59425	D	0.04	.	7.3645	0.26766	0.0:0.7289:0.1711:0.1	.	238;459;502;502	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	V	502;502;459;502	ENSP00000364844:L502V;ENSP00000410353:L502V;ENSP00000414445:L459V;ENSP00000332771:L502V	ENSP00000332771:L502V	L	+	1	2	CLCNKA	16229638	0.000000	0.05858	1.000000	0.80357	0.484000	0.33280	-0.766000	0.04725	0.973000	0.38340	0.313000	0.20887	CTG		0.617	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			14	78	0	0	0	1	0	14	78				
ANO4	121601	broad.mit.edu	37	12	101295475	101295475	+	5'UTR	SNP	G	G	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:101295475G>T	ENST00000392977.3	+	0	122				ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.R137L			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCCATCAACGGCGAAGTGTG	0.502										HNSCC(74;0.22)																												ENST00000538618.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(409-411)cGg>cTg		anoctamin 4																																				SO:0001623	5_prime_UTR_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101295475G>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.-89G>T	12.37:g.101295475G>T		HNSCC(74;0.22)				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR	p.R137L			Q32M45	ANO4_HUMAN			4	410	+			0					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.410G>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148548	0.78001	.	.	ENSG00000151572	ENST00000538618	T	0.78481	-1.18	5.45	4.56	0.56223	.	.	.	.	.	T	0.60064	0.2240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55579	-0.8119	6	0.05351	T	0.99	.	10.5871	0.45288	0.1481:0.0:0.8519:0.0	.	.	.	.	L	137	ENSP00000443751:R137L	ENSP00000443751:R137L	R	+	2	0	ANO4	99819606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.414000	0.59802	1.297000	0.44761	0.655000	0.94253	CGG		0.502	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		44	26	1	0	1.52319e-26	1	1.68566e-26	44	26				
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292|rs121909224		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		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.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(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)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	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	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	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"""		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(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	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Tga		phosphatase and tensin homolog							141.0	131.0	134.0					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	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.chr10:89692904C>T	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.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R130*	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	1745	+		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)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.388C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		39	10	0	0	0	1	0	39	10				
RABL6	55684	broad.mit.edu	37	9	139726296	139726296	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:139726296C>A	ENST00000311502.7	+	6	818	c.582C>A	c.(580-582)ttC>ttA	p.F194L	RABL6_ENST00000357466.2_Missense_Mutation_p.F194L|RABL6_ENST00000371675.3_Missense_Mutation_p.F79L|MIR4292_ENST00000585012.1_RNA|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371663.4_Missense_Mutation_p.F194L|RABL6_ENST00000371671.4_Missense_Mutation_p.F194L|RABL6_ENST00000432842.2_Missense_Mutation_p.F156L|RP11-216L13.18_ENST00000471502.1_RNA			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	194	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										TGCGTGACTTCATCGACAACC	0.672																																						ENST00000371675.3																			0											c.(235-237)ttC>ttA		RAB, member RAS oncogene family-like 6							46.0	50.0	49.0					9																	139726296		2117	4221	6338	SO:0001583	missense	55684							g.chr9:139726296C>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.582C>A	9.37:g.139726296C>A	ENSP00000311134:p.Phe194Leu					RABL6_ENST00000357466.2_Missense_Mutation_p.F194L|RABL6_ENST00000311502.7_Missense_Mutation_p.F194L|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.F156L|RABL6_ENST00000371663.4_Missense_Mutation_p.F194L|RABL6_ENST00000371671.4_Missense_Mutation_p.F194L	p.F79L							6	1122	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.237C>A	CCDS48058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.76|12.76	2.033720|2.033720	0.35893|0.35893	.|.	.|.	ENSG00000196642|ENSG00000196642	ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842;ENST00000371675|ENST00000436380;ENST00000425121	T;T;T;T;T|.	0.64803|.	-0.12;-0.1;0.82;0.93;-0.07|.	4.33|4.33	2.41|2.41	0.29592|0.29592	.|.	0.237683|.	0.35615|.	N|.	0.003090|.	T|T	0.41766|0.41766	0.1173|0.1173	N|N	0.21240|0.21240	0.645|0.645	0.43462|0.43462	D|D	0.995666|0.995666	B;B;B;B;B|.	0.17667|.	0.023;0.0;0.0;0.0;0.001|.	B;B;B;B;B|.	0.20955|.	0.032;0.002;0.002;0.001;0.002|.	T|T	0.14587|0.14587	-1.0467|-1.0467	10|5	0.44086|.	T|.	0.13|.	-5.9988|-5.9988	10.4059|10.4059	0.44256|0.44256	0.0:0.8254:0.0:0.1746|0.0:0.8254:0.0:0.1746	.|.	194;194;194;194;194|.	A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4|.	.;.;.;PARF_HUMAN;.|.	L|N	194;194;194;194;194;156;79|151;105	ENSP00000360727:F194L;ENSP00000311134:F194L;ENSP00000350056:F194L;ENSP00000414081:F156L;ENSP00000360740:F79L|.	ENSP00000311134:F194L|.	F|H	+|+	3|1	2|0	C9orf86|C9orf86	138846117|138846117	1.000000|1.000000	0.71417|0.71417	0.836000|0.836000	0.33094|0.33094	0.802000|0.802000	0.45316|0.45316	0.731000|0.731000	0.26058|0.26058	0.935000|0.935000	0.37341|0.37341	0.313000|0.313000	0.20887|0.20887	TTC|CAT		0.672	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		12	16	1	0	4.3838e-07	1	4.60577e-07	12	16				
NOVA1	4857	broad.mit.edu	37	14	26949251	26949251	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr14:26949251C>T	ENST00000344429.5	-	3	382	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	NOVA1_ENST00000547619.1_Missense_Mutation_p.V127M|NOVA1_ENST00000465357.2_Missense_Mutation_p.V127M|NOVA1_ENST00000539517.2_Missense_Mutation_p.V127M|NOVA1_ENST00000574031.1_Missense_Mutation_p.V127M|NOVA1_ENST00000267422.7_Missense_Mutation_p.V5M	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	130					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GTCTTGGCCACATTTTGGGGC	0.438																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(379-381)Gtg>Atg		neuro-oncological ventral antigen 1							197.0	163.0	174.0					14																	26949251		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26949251C>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.379G>A	14.37:g.26949251C>T	ENSP00000342387:p.Val127Met					NOVA1_ENST00000344429.5_Missense_Mutation_p.V127M|NOVA1_ENST00000547619.1_Missense_Mutation_p.V127M|NOVA1_ENST00000465357.2_Missense_Mutation_p.V127M|NOVA1_ENST00000574031.1_Missense_Mutation_p.V127M|NOVA1_ENST00000267422.7_Missense_Mutation_p.V5M	p.V127M	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	3	696	-			130					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000344429.5	37	c.379G>A	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666487	0.29604	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T;T;T	0.47869	1.47;1.49;1.57;1.46;1.41;0.94;0.93;0.86;0.83	5.71	5.71	0.89125	.	0.229939	0.30252	N	0.010046	T	0.32376	0.0827	N	0.08118	0	0.50813	D	0.999892	B;B;P;P	0.49447	0.156;0.149;0.553;0.924	B;B;B;B	0.41764	0.064;0.053;0.146;0.366	T	0.12319	-1.0552	10	0.23302	T	0.38	-26.7679	19.8535	0.96748	0.0:1.0:0.0:0.0	.	127;130;127;127	P51513-2;P51513;D3DS81;P51513-4	.;NOVA1_HUMAN;.;.	M	127;127;5;86;5;5;90;127;127	ENSP00000447391:V127M;ENSP00000438875:V127M;ENSP00000267422:V5M;ENSP00000408914:V86M;ENSP00000299472:V5M;ENSP00000449113:V5M;ENSP00000449185:V90M;ENSP00000342387:V127M;ENSP00000448157:V127M	ENSP00000267422:V5M	V	-	1	0	NOVA1	26019091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.997000	0.57016	2.686000	0.91538	0.585000	0.79938	GTG		0.438	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		13	48	0	0	0	1	0	13	48				
CR1	1378	broad.mit.edu	37	1	207679361	207679361	+	Silent	SNP	C	C	T	rs142605009	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:207679361C>T	ENST00000367049.4	+	2	234	c.234C>T	c.(232-234)tcC>tcT	p.S78S	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Silent_p.S78S|CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000400960.2_Silent_p.S78S|CR1_ENST00000367051.1_Silent_p.S78S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	78	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGTTATTCCGGAAGACCGT	0.483													T|||	4	0.000798722	0.0	0.0029	5008	,	,		18695	0.0		0.002	False		,,,				2504	0.0					ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(232-234)tcC>tcT		complement component (3b/4b) receptor 1 (Knops blood group)		T	,	0,3674		0,0,1837	165.0	153.0	156.0		234,234	-8.3	0.0	1	dbSNP_134	156	3,8153		0,3,4075	no	coding-synonymous,coding-synonymous	CR1	NM_000573.3,NM_000651.4	,	0,3,5912	TT,TC,CC		0.0368,0.0,0.0254	,	78/2040,78/2490	207679361	3,11827	1837	4078	5915	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207679361C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.234C>T	1.37:g.207679361C>T						CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000367051.1_Silent_p.S78S|CR1_ENST00000367052.1_Silent_p.S78S|CR1_ENST00000400960.2_Silent_p.S78S	p.S78S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			2	234	+			78			Sushi 1.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.234C>T	CCDS44308.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	3.533	-0.095346	0.07010	0.0	3.68E-4	ENSG00000203710	ENST00000529814	.	.	.	4.13	-8.26	0.01021	.	.	.	.	.	T	0.11024	0.0269	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11591	-1.0581	4	.	.	.	.	1.5099	0.02494	0.1693:0.3336:0.1682:0.3289	.	.	.	.	L	54	.	.	P	+	2	0	CR1	205745984	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.212000	0.00273	-2.903000	0.00311	-3.477000	0.00034	CCG		0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		15	132	0	0	0	1	0	15	132				
SMARCA2	6595	broad.mit.edu	37	9	2039776	2039776	+	Silent	SNP	A	A	G	rs376509101|rs13296987	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:2039776A>G	ENST00000382203.1	+	4	875	c.666A>G	c.(664-666)caA>caG	p.Q222Q	SMARCA2_ENST00000357248.2_Silent_p.Q222Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q222Q|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Silent_p.Q222Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	222	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcaacagcagcagc	0.637													A|||	80	0.0159744	0.0333	0.0029	5008	,	,		13171	0.001		0.004	False		,,,				2504	0.0297					ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(664-666)caA>caG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							12.0	14.0	13.0					9																	2039776		2197	4275	6472	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039776A>G	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.666A>G	9.37:g.2039776A>G						SMARCA2_ENST00000349721.2_Silent_p.Q222Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q222Q|SMARCA2_ENST00000382194.1_Silent_p.Q222Q	p.Q222Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	875	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	222			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.666A>G	CCDS34977.1																																																																																				0.637	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	31	0	0	0	1	0	4	31				
SYDE2	84144	broad.mit.edu	37	1	85656053	85656053	+	Silent	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:85656053A>G	ENST00000341460.5	-	2	1177	c.1128T>C	c.(1126-1128)ccT>ccC	p.P376P		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	376					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CATCATCCTCAGGAATGGGAT	0.418																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1126-1128)ccT>ccC		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							79.0	78.0	78.0					1																	85656053		2067	4208	6275	SO:0001819	synonymous_variant	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85656053A>G	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1128T>C	1.37:g.85656053A>G							p.P376P	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	1177	-			376					Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	37	c.1128T>C	CCDS44169.1																																																																																				0.418	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			8	16	0	0	0	1	0	8	16				
CHD4	1108	broad.mit.edu	37	12	6697558	6697558	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:6697558A>G	ENST00000357008.2	-	23	3534	c.3371T>C	c.(3370-3372)cTt>cCt	p.L1124P	CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000309577.6_Missense_Mutation_p.L1124P|CHD4_ENST00000544484.1_Missense_Mutation_p.L1121P|CHD4_ENST00000544040.1_Missense_Mutation_p.L1117P	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1124	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCGAGTGGAAAGCAAGAAGCA	0.428																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3370-3372)cTt>cCt		chromodomain helicase DNA binding protein 4							70.0	69.0	69.0					12																	6697558		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6697558A>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3371T>C	12.37:g.6697558A>G	ENSP00000349508:p.Leu1124Pro					CHD4_ENST00000544040.1_Missense_Mutation_p.L1117P|CHD4_ENST00000544484.1_Missense_Mutation_p.L1121P|CHD4_ENST00000357008.2_Missense_Mutation_p.L1124P	p.L1124P			Q14839	CHD4_HUMAN			23	3534	-			1124			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3371T>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735287	0.69189	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.77	5.77	0.91146	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93822	0.8024	H	0.99705	4.715	0.80722	D	1	D;D;D	0.89917	0.976;1.0;0.999	P;D;D	0.97110	0.867;1.0;0.998	D	0.96583	0.9432	10	0.87932	D	0	.	15.7622	0.78091	1.0:0.0:0.0:0.0	.	1124;1124;1117	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	P	1121;1117;1124;1124;1098	ENSP00000440392:L1121P;ENSP00000440542:L1117P;ENSP00000312419:L1124P;ENSP00000349508:L1124P	ENSP00000312419:L1124P	L	-	2	0	CHD4	6567819	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.204000	0.95041	2.206000	0.71126	0.358000	0.22013	CTT		0.428	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		17	54	0	0	0	1	0	17	54				
MALAT1	378938	broad.mit.edu	37	11	65270254	65270254	+	lincRNA	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:65270254G>A	ENST00000534336.1	+	0	5022					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GCATAACCCTGAGATTCTTAC	0.348																																						ENST00000534336.1																			0																				23.0	24.0	23.0					11																	65270254		874	1988	2862			0							g.chr11:65270254G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270254G>A								NR_002819.2						0	5022	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.348	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		6	11	0	0	0	1	0	6	11				
EPHA5	2044	broad.mit.edu	37	4	66356251	66356251	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:66356251G>A	ENST00000273854.3	-	5	1846	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.P416S|EPHA5_ENST00000511294.1_Missense_Mutation_p.P416S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	416	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTTGCCGGGGAAGGTACCTG	0.498										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1246-1248)Ccc>Tcc		EPH receptor A5							121.0	95.0	104.0					4																	66356251		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356251G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1246C>T	4.37:g.66356251G>A	ENSP00000273854:p.Pro416Ser	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.P416S|EPHA5_ENST00000354839.4_Missense_Mutation_p.P416S|EPHA5_ENST00000432638.2_Intron	p.P416S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1846	-			416			Fibronectin type-III 1.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1246C>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090422	0.94149	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.56103	0.48;0.48;0.48	6.08	6.08	0.98989	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000009	T	0.81019	0.4736	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.97110	1.0;0.951;0.999;1.0	D	0.84022	0.0354	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	416;416;416;416	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	416	ENSP00000273854:P416S;ENSP00000346899:P416S;ENSP00000427638:P416S	ENSP00000273854:P416S	P	-	1	0	EPHA5	66038846	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CCC		0.498	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		10	42	0	0	0	1	0	10	42				
SMEK2	57223	broad.mit.edu	37	2	55792098	55792098	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:55792098A>T	ENST00000345102.5	-	14	2316	c.2015T>A	c.(2014-2016)tTc>tAc	p.F672Y	SMEK2_ENST00000407823.3_Missense_Mutation_p.F640Y|SNORA12_ENST00000390873.1_RNA|SMEK2_ENST00000272313.5_Missense_Mutation_p.F587Y	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	672					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAATCCTTTGAATGTCTGAAC	0.313																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1759-1761)tTc>tAc		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							150.0	143.0	145.0					2																	55792098		2200	4298	6498	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55792098A>T	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.2015T>A	2.37:g.55792098A>T	ENSP00000339769:p.Phe672Tyr					SMEK2_ENST00000345102.5_Missense_Mutation_p.F672Y|SMEK2_ENST00000407823.3_Missense_Mutation_p.F640Y	p.F587Y	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		12	2087	-			672					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.1760T>A	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.920258	0.92249	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.41400	1.0;1.0;1.0	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.985;0.996;0.994;0.988	T	0.74668	-0.3588	10	0.87932	D	0	-7.5493	14.926	0.70878	1.0:0.0:0.0:0.0	.	640;672;587;672;106	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9;Q5MIZ7-5	.;P4R3B_HUMAN;.;.;.	Y	587;640;672	ENSP00000272313:F587Y;ENSP00000385912:F640Y;ENSP00000339769:F672Y	ENSP00000272313:F587Y	F	-	2	0	SMEK2	55645602	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.308000	0.96247	2.018000	0.59344	0.533000	0.62120	TTC		0.313	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		6	15	0	0	0	1	0	6	15				
RYR1	6261	broad.mit.edu	37	19	38976497	38976497	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:38976497C>T	ENST00000359596.3	+	34	5202	c.5202C>T	c.(5200-5202)atC>atT	p.I1734I	RYR1_ENST00000355481.4_Silent_p.I1734I|RYR1_ENST00000360985.3_Silent_p.I1734I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1734	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGAATACATCGTGCCCCTCA	0.632																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5200-5202)atC>atT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						72.0	72.0	72.0					19																	38976497		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976497C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5202C>T	19.37:g.38976497C>T						RYR1_ENST00000360985.3_Silent_p.I1734I|RYR1_ENST00000359596.3_Silent_p.I1734I	p.I1734I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5333	+	all_cancers(60;7.91e-06)		1734			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.5202C>T	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			48	56	0	0	0	1	0	48	56				
MT-CO1	4512	broad.mit.edu	37	M	7273	7273	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrM:7273G>A	ENST00000361624.2	+	1	1370	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	MT-ND3_ENST00000361227.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	457					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ATCATCTGTAGGCTCATTCAT	0.428																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1369-1371)gGc>gAc		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:7273G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1370G>A	M.37:g.7273G>A	ENSP00000354499:p.Gly457Asp						p.457_457insD							1	1370	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.1370G>A																																																																																					0.428	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		36	209	0	0	0	1	0	36	209				
SYCP2	10388	broad.mit.edu	37	20	58448922	58448922	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr20:58448922G>A	ENST00000357552.3	-	35	3769	c.3544C>T	c.(3544-3546)Cca>Tca	p.P1182S	SYCP2_ENST00000371001.2_Missense_Mutation_p.P1182S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1182					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAAAACAGTGGTCGTGGAATT	0.338																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3544-3546)Cca>Tca		synaptonemal complex protein 2							113.0	96.0	102.0					20																	58448922		2203	4300	6503	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58448922G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3544C>T	20.37:g.58448922G>A	ENSP00000350162:p.Pro1182Ser					SYCP2_ENST00000371001.2_Missense_Mutation_p.P1182S	p.P1182S			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		35	3769	-	all_lung(29;0.00344)		1182					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3544C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.565770	0.00134	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.12984	2.63;2.63	4.92	-1.17	0.09648	.	1.047900	0.07478	N	0.903389	T	0.04363	0.0120	N	0.03608	-0.345	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.40308	-0.9570	10	0.02654	T	1	0.4225	5.4462	0.16537	0.3514:0.4506:0.1981:0.0	.	1182	Q9BX26	SYCP2_HUMAN	S	1182	ENSP00000360040:P1182S;ENSP00000350162:P1182S	ENSP00000350162:P1182S	P	-	1	0	SYCP2	57882317	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.200000	0.17257	-0.262000	0.09392	-0.251000	0.11542	CCA		0.338	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		9	27	0	0	0	1	0	9	27				
FAM153A	285596	broad.mit.edu	37	5	177156485	177156485	+	Splice_Site	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:177156485C>G	ENST00000440605.3	-	16	986		c.e16+1		FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A											kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGACTTTACCATGTGAACC	0.443																																						ENST00000440605.3																			0				kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11						c.e16+1		family with sequence similarity 153, member A							43.0	48.0	47.0					5																	177156485		2176	4276	6452	SO:0001630	splice_region_variant	285596							g.chr5:177156485C>G	AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"""NY REN 7 antigen"""					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.702+1G>C	5.37:g.177156485C>G						FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000513554.1_Intron		NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	986	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)						A8K0F3|O94852	Splice_Site	SNP	ENST00000440605.3	37		CCDS34305.1	.	.	.	.	.	.	.	.	.	.	N	3.747	-0.052459	0.07362	.	.	ENSG00000170074	ENST00000440977;ENST00000510276;ENST00000440605	.	.	.	1.04	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5733	0.17208	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM153A	177089091	0.135000	0.22499	0.002000	0.10522	0.005000	0.04900	0.771000	0.26633	0.911000	0.36747	0.372000	0.22366	.		0.443	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1	NM_173663	Intron	28	124	0	0	0	1	0	28	124				
CBX5	23468	broad.mit.edu	37	12	54645939	54645939	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:54645939A>T	ENST00000439541.2	-	3	335	c.210T>A	c.(208-210)taT>taA	p.Y70*	CBX5_ENST00000209875.4_Nonsense_Mutation_p.Y70*|CBX5_ENST00000550411.1_Nonsense_Mutation_p.Y70*	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	70	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TCATCTTCTTATACTTTTTCA	0.363																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(208-210)taT>taA		chromobox homolog 5							100.0	103.0	102.0					12																	54645939		2203	4300	6503	SO:0001587	stop_gained	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54645939A>T	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.210T>A	12.37:g.54645939A>T	ENSP00000401009:p.Tyr70*					CBX5_ENST00000550411.1_Nonsense_Mutation_p.Y70*|CBX5_ENST00000439541.2_Nonsense_Mutation_p.Y70*	p.Y70*	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			3	346	-			70			Chromo 1.		B2R8T9	Nonsense_Mutation	SNP	ENST00000439541.2	37	c.210T>A	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	A	34	5.357352	0.95854	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	.	.	.	5.22	1.5	0.22942	.	0.122271	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-8.6843	6.9904	0.24751	0.656:0.0:0.344:0.0	.	.	.	.	X	70	.	ENSP00000209875:Y70X	Y	-	3	2	CBX5	52932206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.616000	0.36933	0.482000	0.27582	0.533000	0.62120	TAT		0.363	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		14	59	0	0	0	1	0	14	59				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	111	0	0	0	1	0	5	111				
KDM4B	23030	broad.mit.edu	37	19	5137981	5137981	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:5137981A>C	ENST00000159111.4	+	18	2668	c.2450A>C	c.(2449-2451)cAc>cCc	p.H817P	KDM4B_ENST00000536461.1_Missense_Mutation_p.H851P	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	817					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGTGGATCCACGTGATCTGT	0.672																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(2449-2451)cAc>cCc		lysine (K)-specific demethylase 4B							48.0	42.0	44.0					19																	5137981		2202	4298	6500	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5137981A>C	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2450A>C	19.37:g.5137981A>C	ENSP00000159111:p.His817Pro					KDM4B_ENST00000536461.1_Missense_Mutation_p.H851P	p.H817P	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			18	2668	+			817					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.2450A>C	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	A	33	5.277021	0.95459	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.42131	0.98;0.98	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.75867	0.3908	H	0.97635	4.045	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.87578	0.997;0.998	D	0.84873	0.0826	10	0.87932	D	0	-41.5844	13.7464	0.62879	1.0:0.0:0.0:0.0	.	851;817	F5GX28;O94953	.;KDM4B_HUMAN	P	817;851	ENSP00000159111:H817P;ENSP00000440495:H851P	ENSP00000159111:H817P	H	+	2	0	KDM4B	5088981	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	8.862000	0.92283	1.666000	0.50821	0.459000	0.35465	CAC		0.672	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		5	13	0	0	0	1	0	5	13				
OR4C3	256144	broad.mit.edu	37	11	48347283	48347283	+	Missense_Mutation	SNP	C	C	G	rs201864172	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:48347283C>G	ENST00000319856.4	+	1	812	c.791C>G	c.(790-792)aCc>aGc	p.T264S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCCCTCTCCACCTGTGGAGCC	0.458																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(790-792)aCc>aGc		olfactory receptor, family 4, subfamily C, member 3							279.0	238.0	252.0					11																	48347283		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347283C>G	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.791C>G	11.37:g.48347283C>G	ENSP00000321419:p.Thr264Ser						p.T264S	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	812	+			237					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.791C>G	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261816	0.80358	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.40476	1.03	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.118204	0.38492	N	0.001669	T	0.72293	0.3442	H	0.96805	3.885	0.46609	D	0.999121	P	0.42296	0.775	P	0.51999	0.687	T	0.80099	-0.1524	10	0.66056	D	0.02	.	17.8871	0.88858	0.0:1.0:0.0:0.0	.	237	Q8NH37	OR4C3_HUMAN	S	264;127	ENSP00000321419:T264S	ENSP00000321419:T264S	T	+	2	0	OR4C3	48303859	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.800000	0.69108	2.829000	0.97493	0.549000	0.68633	ACC		0.458	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		46	39	0	0	0	1	0	46	39				
PRPF8	10594	broad.mit.edu	37	17	1563260	1563260	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:1563260C>T	ENST00000572621.1	-	30	5086	c.4821G>A	c.(4819-4821)gaG>gaA	p.E1607E	PRPF8_ENST00000304992.6_Silent_p.E1607E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1607	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTTGTACTGTCTCAATTTCCA	0.413																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4819-4821)gaG>gaA		pre-mRNA processing factor 8							172.0	143.0	153.0					17																	1563260		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563260C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4821G>A	17.37:g.1563260C>T						PRPF8_ENST00000304992.6_Silent_p.E1607E	p.E1607E			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	30	5086	-			1607					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.4821G>A	CCDS11010.1																																																																																				0.413	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			10	106	0	0	0	1	0	10	106				
CD1B	910	broad.mit.edu	37	1	158298715	158298715	+	Missense_Mutation	SNP	G	G	A	rs202176904		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:158298715G>A	ENST00000368168.3	-	5	1083	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	326					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACTCACCGGCGCCTCATATAC	0.378																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(976-978)Cgc>Tgc		CD1b molecule							83.0	83.0	83.0					1																	158298715		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158298715G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.976C>T	1.37:g.158298715G>A	ENSP00000357150:p.Arg326Cys						p.R326C	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			5	1083	-	all_hematologic(112;0.0378)		326					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.976C>T	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.19|14.19	2.460146|2.460146	0.43736|0.43736	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|T	.|0.01584	.|4.75	4.26|4.26	4.26|4.26	0.50523|0.50523	.|.	.|0.166929	.|0.29046	.|N	.|0.013314	T|T	0.03827|0.03827	0.0108|0.0108	M|M	0.79011|0.79011	2.435|2.435	0.09310|0.09310	N|N	1|1	.|B;D	.|0.89917	.|0.214;1.0	.|B;P	.|0.60886	.|0.037;0.88	T|T	0.16512|0.16512	-1.0400|-1.0400	5|10	.|0.51188	.|T	.|0.08	.|.	12.3598|12.3598	0.55197|0.55197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|326;271	.|P29016;P29016-2	.|CD1B_HUMAN;.	V|C	238|326	.|ENSP00000357150:R326C	.|ENSP00000357150:R326C	A|R	-|-	2|1	0|0	CD1B|CD1B	156565339|156565339	0.005000|0.005000	0.15991|0.15991	0.083000|0.083000	0.20561|0.20561	0.470000|0.470000	0.32858|0.32858	1.700000|1.700000	0.37815|0.37815	2.365000|2.365000	0.80145|0.80145	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.378	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		13	40	0	0	0	1	0	13	40				
C2orf16	84226	broad.mit.edu	37	2	27801239	27801239	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:27801239C>T	ENST00000408964.2	+	1	1851	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	600						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTTCAAATCGTAAAATCTG	0.393																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(1798-1800)atC>atT		chromosome 2 open reading frame 16							56.0	52.0	53.0					2																	27801239		1849	4088	5937	SO:0001819	synonymous_variant	84226							g.chr2:27801239C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1800C>T	2.37:g.27801239C>T							p.I600I	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	1851	+	Acute lymphoblastic leukemia(172;0.155)		600					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.1800C>T	CCDS42666.1																																																																																				0.393	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		12	17	0	0	0	1	0	12	17				
ZNF667	63934	broad.mit.edu	37	19	56953959	56953959	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:56953959C>G	ENST00000504904.3	-	7	1124	c.405G>C	c.(403-405)aaG>aaC	p.K135N	ZNF667_ENST00000292069.6_Missense_Mutation_p.K135N|ZNF667_ENST00000342634.3_Missense_Mutation_p.K263N|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AATGCCCTTTCTTAGGTTTTA	0.393																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(403-405)aaG>aaC		zinc finger protein 667							100.0	106.0	104.0					19																	56953959		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953959C>G		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.405G>C	19.37:g.56953959C>G	ENSP00000439402:p.Lys135Asn					ZNF667_ENST00000292069.6_Missense_Mutation_p.K135N|ZNF667_ENST00000342634.3_Missense_Mutation_p.K263N|ZNF667_ENST00000591790.1_3'UTR	p.K135N			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1124	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	135					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.405G>C	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	3.751	-0.051568	0.07362	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000360227	T;T;T	0.12361	2.69;2.69;2.69	4.98	2.85	0.33270	.	0.511373	0.16535	N	0.210198	T	0.12817	0.0311	L	0.39898	1.24	0.09310	N	1	P;B	0.43542	0.81;0.175	B;B	0.44224	0.444;0.227	T	0.12708	-1.0537	10	0.72032	D	0.01	-3.33	5.2763	0.15651	0.0:0.6512:0.1672:0.1816	.	263;135	E7EPS0;Q5HYK9	.;ZN667_HUMAN	N	263;135;135;9	ENSP00000344699:K263N;ENSP00000439402:K135N;ENSP00000292069:K135N	ENSP00000292069:K135N	K	-	3	2	ZNF667	61645771	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	0.903000	0.28475	0.701000	0.31803	-0.225000	0.12378	AAG		0.393	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		47	50	0	0	0	1	0	47	50				
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(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)				TGCATACAACGCACAGTGGAA	0.413			"""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"""		99	Substitution - Missense(98)|Unknown(1)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(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.(1393-1395)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							260.0	223.0	235.0					4																	153249385		2203	4300	6503	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.chr4:153249385G>A	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.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys					FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C	p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2622	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1393C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.71206	2.165	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	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			55	71	0	0	0	1	0	55	71				
CHD4	1108	broad.mit.edu	37	12	6710697	6710697	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:6710697C>T	ENST00000357008.2	-	6	721		c.e6-1		CHD4_ENST00000309577.6_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						AATGAGGGGTCTGGTGGAGAA	0.438																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.e6-1		chromodomain helicase DNA binding protein 4							206.0	232.0	223.0					12																	6710697		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6710697C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.558-1G>A	12.37:g.6710697C>T						CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site				Q14839	CHD4_HUMAN			6	721	-								Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37		CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633444	0.67015	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2084	0.98285	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6580958	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.445000	0.80570	2.774000	0.95407	0.650000	0.86243	.		0.438	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Intron	130	125	0	0	0	1	0	130	125				
ALMS1	7840	broad.mit.edu	37	2	73613273	73613273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:73613273delC	ENST00000264448.6	+	1	388	c.277delC	c.(277-279)cccfs	p.P94fs	ALMS1_ENST00000377715.1_Frame_Shift_Del_p.P94fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.P94fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	94					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCGCTGTCGCCCCCGCAGCA	0.701																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(277-279)ccfs		Alstrom syndrome 1							7.0	10.0	9.0					2																	73613273		1876	4009	5885	SO:0001589	frameshift_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73613273delC	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.277delC	2.37:g.73613273delC	ENSP00000264448:p.Pro94fs					ALMS1_ENST00000377715.1_Frame_Shift_Del_p.P94fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.P94fs	p.P94fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			1	388	+			94					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Del	DEL	ENST00000264448.6	37	c.277delC	CCDS42697.1																																																																																				0.701	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		2	4						2	4	---	---	---	---
LINC01087	101927994	broad.mit.edu	37	2	132405729	132405730	+	lincRNA	INS	-	-	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:132405729_132405730insG	ENST00000431979.1	+	0	2154									long intergenic non-protein coding RNA 1087																		TTCCCGCACACGTGGTGGCAAA	0.535																																						ENST00000431979.1																			0																																																			0							g.chr2:132405729_132405730insG	BC036114		2q21.1	2013-09-19			ENSG00000224559	ENSG00000224559		"""Long non-coding RNAs"""	49144	non-coding RNA	RNA, long non-coding							Standard	NR_108087		Approved				OTTHUMG00000153621		2.37:g.132405730_132405730dupG														0	2154	+									RNA	INS	ENST00000431979.1	37																																																																																						0.535	LINC01087-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331858.1			2	4						2	4	---	---	---	---
TFP1	100129696	broad.mit.edu	37	3	133423292	133423292	+	RNA	DEL	A	A	-	rs533095507		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:133423292delA	ENST00000460564.1	+	0	381									transferrin pseudogene 1																		GAGCTAGTAGAAAAAAAAAGT	0.383																																						ENST00000460564.1																			0																																																			0							g.chr3:133423292delA	M22375		3q22	2012-10-02	2010-07-20	2010-07-20	ENSG00000242337	ENSG00000242337			11759	pseudogene	pseudogene			"""transferrin pseudogene"""	TFP			Standard	NG_008673		Approved				OTTHUMG00000159751		3.37:g.133423292delA														0	381	+									RNA	DEL	ENST00000460564.1	37																																																																																						0.383	TFP1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357168.1	NG_008673		2	4						2	4	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67589269	67589270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:67589269_67589270insT	ENST00000521381.1	+	10	1873_1874	c.1257_1258insT	c.(1258-1260)ttgfs	p.L420fs	PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.L420fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.L120fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.L420fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.L420fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.L57fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.L150fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	420	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATAATCCCAAATTGGATGTGAA	0.347			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1255-1260)aatggafs		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589269_67589270insT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1259dupT	5.37:g.67589271_67589271dupT	ENSP00000428056:p.Leu420fs	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.G420fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.G57fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.G150fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.G120fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.G420fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.G420fs	p.G420fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1873_1874	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	420			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.1257_1258insT	CCDS3993.1																																																																																				0.347	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		12	14						12	14	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67589588	67589620	+	In_Frame_Del	DEL	GAATATAACACTCAGTTTCAAGAAAAAAGTCGA	GAATATAACACTCAGTTTCAAGAAAAAAGTCGA	-	rs17852841		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:67589588_67589620delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	ENST00000521381.1	+	11	1967_1999	c.1351_1383delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	c.(1351-1383)gaatataacactcagtttcaagaaaaaagtcgadel	p.EYNTQFQEKSR451del	PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYNTQFQEKSR151del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYNTQFQEKSR88del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYNTQFQEKSR181del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	451			E -> K (in dbSNP:rs17852841). {ECO:0000269|PubMed:15489334}.		B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.N453_T454insN(3)|p.H450_E451del(2)|p.Y452_Q455>SGGSRIK(1)|p.Y152N(1)|p.F456_R461>S(1)|p.E451_Y452delEY(1)|p.T454_Q455>Q(1)|p.T454I(1)|p.E462_R465delEYDR(1)|p.Y452N(1)|p.R461*(1)|p.Q187P(1)|p.Q157P(1)|p.453_454insN(1)|p.K459del(1)|p.K459_S460>N(1)|p.?(1)|p.Q457P(1)|p.Q457_R461del(1)|p.S460fs*5(1)|p.T454_D464del(1)|p.G446_Y452>VI(1)|p.E458*(1)|p.0?(1)|p.K459E(1)|p.Q455K(1)|p.F456_R461del(1)|p.Y182N(1)|p.E451_Y452del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAAATTACATGAATATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATGATA	0.27			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		32	Deletion - In frame(9)|Substitution - Missense(9)|Complex - deletion inframe(5)|Insertion - In frame(4)|Substitution - Nonsense(2)|Unknown(1)|Whole gene deletion(1)|Insertion - Frameshift(1)	p.N453_T454insN(3)|p.H450_E451del(2)|p.Y452_Q455>SGGSRIK(1)|p.Y152N(1)|p.F456_R461>S(1)|p.E451_Y452delEY(1)|p.T454_Q455>Q(1)|p.T454I(1)|p.E462_R465delEYDR(1)|p.Y452N(1)|p.R461*(1)|p.Q187P(1)|p.Q157P(1)|p.453_454insN(1)|p.K459del(1)|p.K459_S460>N(1)|p.?(1)|p.Q457P(1)|p.Q457_R461del(1)|p.S460fs*5(1)|p.T454_D464del(1)|p.G446_Y452>VI(1)|p.E458*(1)|p.0?(1)|p.K459E(1)|p.Q455K(1)|p.F456_R461del(1)|p.Y182N(1)|p.E451_Y452del(1)	endometrium(14)|central_nervous_system(5)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1351-1383)del		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589588_67589620delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1351_1383delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	5.37:g.67589588_67589620delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	ENSP00000428056:p.Glu451_Arg461del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYNTQFQEKSR88del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYNTQFQEKSR181del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYNTQFQEKSR151del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYNTQFQEKSR451del	p.EYNTQFQEKSR451del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1967_1999	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	451		E -> K (in dbSNP:rs17852841).			B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1351_1383delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	CCDS3993.1																																																																																				0.270	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		7	32						7	32	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs144629981|rs3045983|rs557874766|rs1047489	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)						1174	0.234425	0.2874	0.2061	5008	,	,		7173	0.0565		0.2535	False		,,,				2504	0.3466				Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(196-204)del	Mismatch excision repair (MMR)	mutS homolog 3			,	1105,2179		342,421,879					,	4.0	1.0		dbSNP_102	4	1941,4615		567,807,1904	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	909,1228,2783	A1A1,A1R,RR		29.6065,33.648,30.9553	,	,		3046,6794				SO:0001651	inframe_deletion	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79950742_79950750delCCCCCAGCT	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.196_204delCCCCCAGCT	5.37:g.79950742_79950750delCCCCCAGCT	ENSP00000265081:p.Pro66_Ala68del					DHFR_ENST00000439211.2_5'UTR	p.PPA66del	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	1	276_284	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	66					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	ENST00000265081.6	37	c.196_204delCCCCCAGCT	CCDS34195.1																																																																																				0.732	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		7	10						7	10	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		8	18						8	18	---	---	---	---
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.49																																						ENST00000550231.1																			0																																																			0							g.chr12:110868215_110868216delGT																													12.37:g.110868225_110868226delGT														0	97	-									RNA	DEL	ENST00000550231.1	37																																																																																						0.490	RP11-478C19.2-001	KNOWN	basic|readthrough_transcript	retained_intron	processed_transcript	OTTHUMT00000404601.1			2	4						2	4	---	---	---	---
AC124997.1	0	broad.mit.edu	37	15	25804996	25804996	+	lincRNA	DEL	C	C	-	rs550135587		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr15:25804996delC	ENST00000422117.1	-	0	167																											CCTGTTGGTGCCCGTGCTCCT	0.587																																						ENST00000422117.1																			0																																																			0							g.chr15:25804996delC																													15.37:g.25804996delC														0	167	-									RNA	DEL	ENST00000422117.1	37																																																																																						0.587	AC124997.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000126738.1			2	4						2	4	---	---	---	---
GOLGA8O	728047	broad.mit.edu	37	15	32743123	32743125	+	In_Frame_Del	DEL	CTT	CTT	-	rs572957836	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr15:32743123_32743125delCTT	ENST00000509311.2	-	8	677_679	c.580_582delAAG	c.(580-582)aagdel	p.K194del	GOLGA8O_ENST00000414865.2_Intron	NM_001277308.1	NP_001264237.1	A6NCC3	GOG8O_HUMAN	golgin A8 family, member O	194						Golgi apparatus (GO:0005794)											CCTGGTTTGCCTTCTTCTTCTCT	0.562														70	0.0139776	0.0174	0.0173	5008	,	,		24431	0.003		0.0189	False		,,,				2504	0.0133					ENST00000509311.2																			0											c.(580-582)del		golgin A8 family, member O																																				SO:0001651	inframe_deletion	728047							g.chr15:32743123_32743125delCTT		CCDS59252.1	15q13.3	2012-10-05			ENSG00000206127	ENSG00000206127			44406	protein-coding gene	gene with protein product							Standard	NM_001277308		Approved		uc031qrg.1	A6NCC3	OTTHUMG00000162878	ENST00000509311.2:c.580_582delAAG	15.37:g.32743129_32743131delCTT	ENSP00000423159:p.Lys194del					GOLGA8O_ENST00000414865.2_Intron	p.K194del	NM_001277308.1	NP_001264237.1					8	677_679	-								A6NHZ1|E7ENU5	In_Frame_Del	DEL	ENST00000509311.2	37	c.580_582delAAG	CCDS59252.1																																																																																				0.562	GOLGA8O-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370931.3			3	4						3	4	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			10	527						10	527	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11065298	11065299	+	RNA	INS	-	-	AGC	rs56754608|rs149703082|rs139771461	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:11065298_11065299insAGC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ataacaaataGAGCAGCATTTC	0.337														2358	0.470847	0.4667	0.4856	5008	,	,		86693	0.4435		0.4801	False		,,,				2504	0.4847					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11065298_11065299insAGC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11065302_11065304dupAGC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.337	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	4						4	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11083997	11083998	+	RNA	INS	-	-	GG	rs60923226|rs201443565|rs564847764|rs370113266		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:11083997_11083998insGG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		atgatttgtgtttgtgtgtttg	0.277																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11083997_11083998insGG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11083997_11083998insGG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.277	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11089518	11089519	+	RNA	INS	-	-	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:11089518_11089519insA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gactctgtctcaaaaaaacaga	0.48																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11089518_11089519insA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11089525_11089525dupA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.480	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	9						8	9	---	---	---	---
