#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
KRT75	9119	broad.mit.edu	37	12	52826917	52826917	+	Silent	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:52826917C>T	ENST00000252245.5	-	2	838	c.618G>A	c.(616-618)gaG>gaA	p.E206E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	206	Coil 1B.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCGTCGGAGCTCACTGGTAT	0.552																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(616-618)gaG>gaA		keratin 75							113.0	111.0	112.0					12																	52826917		2203	4300	6503	SO:0001819	synonymous_variant	9119					keratin filament	structural molecule activity	g.chr12:52826917C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.618G>A	12.37:g.52826917C>T							p.E206E	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	2	838	-			206			Coil 1B.|Rod.		B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	c.618G>A	CCDS8827.1																																																																																				0.552	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		50	68	0	0	0	1	0	50	68				
HIVEP2	3097	broad.mit.edu	37	6	143091825	143091825	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr6:143091825T>C	ENST00000367604.1	-	4	4690	c.4051A>G	c.(4051-4053)Aca>Gca	p.T1351A	HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1351A|HIVEP2_ENST00000367603.2_Missense_Mutation_p.T1351A			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAAATGCTTGTGTACATGACA	0.498																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(4051-4053)Aca>Gca		human immunodeficiency virus type I enhancer binding protein 2							80.0	78.0	79.0					6																	143091825		1999	4176	6175	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091825T>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4051A>G	6.37:g.143091825T>C	ENSP00000356576:p.Thr1351Ala					HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1351A|HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1351A	p.T1351A	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4793	-			1351					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.4051A>G	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075124	0.76415	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.08896	3.04;3.04;3.04	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01127	-1.1443	10	0.87932	D	0	-18.7622	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1351	P31629	ZEP2_HUMAN	A	1351	ENSP00000356576:T1351A;ENSP00000356575:T1351A;ENSP00000012134:T1351A	ENSP00000012134:T1351A	T	-	1	0	HIVEP2	143133518	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	ACA		0.498	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			5	73	0	0	0	1	0	5	73				
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	rs373153121		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:179463526C>T	ENST00000591111.1	-	241	52212	c.51988G>A	c.(51988-51990)Gtg>Atg	p.V17330M	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18971M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(56911-56913)Gtg>Atg		titin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3760		0,0,1880	151.0	150.0	151.0		29716,49207,30091,30292	5.2	1.0	2		151	2,8190		0,2,4094	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,2,5974	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9906/26927,16403/33424,10031/27052,10098/27119	179463526	2,11950	1880	4096	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463526C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51988G>A	2.37:g.179463526C>T	ENSP00000465570:p.Val17330Met					TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000456053.1_RNA	p.V18971M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	57135	-			17330			Fibronectin type-III 37.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.56911G>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929785	0.34096	0.0	2.44E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62097	0.2400	L	0.35593	1.075	0.43719	D	0.996196	P;P;P;D	0.89917	0.841;0.841;0.841;1.0	B;B;P;D	0.67382	0.408;0.408;0.572;0.951	T	0.66436	-0.5924	9	0.87932	D	0	.	15.6409	0.77001	0.0:0.9338:0.0:0.0662	.	9906;10031;10098;17330	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16403;9906;10098;10031;9904	ENSP00000343764:V16403M;ENSP00000434586:V9906M;ENSP00000340554:V10098M;ENSP00000352154:V10031M	ENSP00000340554:V10098M	V	-	1	0	TTN	179171771	0.996000	0.38824	1.000000	0.80357	0.927000	0.56198	2.547000	0.45786	1.547000	0.49401	0.650000	0.86243	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		73	96	0	0	0	1	0	73	96				
AUTS2	26053	broad.mit.edu	37	7	70231294	70231294	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr7:70231294A>G	ENST00000342771.4	+	9	1984	c.1663A>G	c.(1663-1665)Atc>Gtc	p.I555V	AUTS2_ENST00000406775.2_Missense_Mutation_p.I555V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	555										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCACCGCCATCATGCCGAC	0.617																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1663-1665)Atc>Gtc		autism susceptibility candidate 2							223.0	205.0	211.0					7																	70231294		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70231294A>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1663A>G	7.37:g.70231294A>G	ENSP00000344087:p.Ile555Val					AUTS2_ENST00000406775.2_Missense_Mutation_p.I555V	p.I555V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	9	1984	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	555					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1663A>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.716852	0.30413	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.10573	2.86;2.86	5.56	4.34	0.51931	.	0.279181	0.38663	N	0.001612	T	0.08935	0.0221	L	0.38175	1.15	0.80722	D	1	P;P	0.46395	0.877;0.877	B;B	0.38712	0.28;0.28	T	0.24048	-1.0171	9	.	.	.	-10.0145	12.309	0.54918	0.8588:0.1412:0.0:0.0	.	555;555	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	V	555	ENSP00000385263:I555V;ENSP00000344087:I555V	.	I	+	1	0	AUTS2	69869230	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.814000	0.69208	2.114000	0.64651	0.459000	0.35465	ATC		0.617	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			27	32	0	0	0	1	0	27	32				
CDKN2C	1031	broad.mit.edu	37	1	51439739	51439739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:51439739G>T	ENST00000262662.1	+	4	2338	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.E102*|CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.E102*			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	102					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGAGGATAATGAAGGGAACCT	0.532			D		"""glioma, MM"""																																Melanoma(47;50 1155 4767 22863 47597)	ENST00000262662.1				Rec	yes		1	1p32	1031	D	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""			"""O, L"""			"""glioma, MM"""		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(304-306)Gaa>Taa		cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)							83.0	76.0	78.0					1																	51439739		2203	4300	6503	SO:0001587	stop_gained	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439739G>T	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.304G>T	1.37:g.51439739G>T	ENSP00000262662:p.Glu102*					CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.E102*|CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.E102*	p.E102*			P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	4	2338	+			102					Q8TB83	Nonsense_Mutation	SNP	ENST00000262662.1	37	c.304G>T	CCDS555.1	.	.	.	.	.	.	.	.	.	.	G	38	7.107102	0.98066	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	.	.	.	5.83	5.83	0.93111	.	0.427176	0.26496	N	0.024047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-4.9408	20.1338	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000262662:E102X	E	+	1	0	CDKN2C	51212327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.282000	0.65615	2.770000	0.95276	0.655000	0.94253	GAA		0.532	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		29	9	1	0	4.22769e-11	1	4.33339e-11	29	9				
OR1G1	8390	broad.mit.edu	37	17	3029996	3029996	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:3029996T>C	ENST00000328890.2	-	1	879	c.850A>G	c.(850-852)Atg>Gtg	p.M284V		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	284					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GGATTCAACATTGGAGTTACC	0.428																																					Colon(127;1481 1654 8243 19426 50557)	ENST00000328890.2																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(850-852)Atg>Gtg		olfactory receptor, family 1, subfamily G, member 1							85.0	79.0	81.0					17																	3029996		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3029996T>C	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.850A>G	17.37:g.3029996T>C	ENSP00000331545:p.Met284Val						p.M284V	NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN			1	879	-			284					Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.850A>G	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018928	0.35606	.	.	ENSG00000183024	ENST00000328890	T	0.36878	1.23	4.64	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.27205	0.0667	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	9	0.66056	D	0.02	.	4.5681	0.12196	0.0:0.2713:0.3368:0.3919	.	284	P47890	OR1G1_HUMAN	V	284	ENSP00000331545:M284V	ENSP00000331545:M284V	M	-	1	0	OR1G1	2976746	0.000000	0.05858	0.125000	0.21846	0.873000	0.50193	-1.679000	0.01940	0.016000	0.14998	0.427000	0.28365	ATG		0.428	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			4	63	0	0	0	1	0	4	63				
AGPAT9	84803	broad.mit.edu	37	4	84519288	84519288	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:84519288G>A	ENST00000395226.2	+	11	1299	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	AGPAT9_ENST00000264409.4_Missense_Mutation_p.A361T	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	361					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GACCAGCTGGGCCATCGTCTG	0.453																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(1081-1083)Gcc>Acc		1-acylglycerol-3-phosphate O-acyltransferase 9							123.0	109.0	114.0					4																	84519288		2203	4300	6503	SO:0001583	missense	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84519288G>A	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1081G>A	4.37:g.84519288G>A	ENSP00000378651:p.Ala361Thr					AGPAT9_ENST00000264409.4_Missense_Mutation_p.A361T	p.A361T	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN			11	1299	+		Hepatocellular(203;0.114)	361					Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	c.1081G>A	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956033	0.92726	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.50277	0.75;0.75	5.62	5.62	0.85841	.	0.046754	0.85682	D	0.000000	T	0.63757	0.2538	M	0.89163	3.01	0.80722	D	1	P	0.47191	0.891	P	0.46452	0.517	T	0.67169	-0.5738	10	0.33141	T	0.24	-12.7927	19.6718	0.95914	0.0:0.0:1.0:0.0	.	361	Q53EU6	GPAT3_HUMAN	T	361	ENSP00000378651:A361T;ENSP00000264409:A361T	ENSP00000264409:A361T	A	+	1	0	AGPAT9	84738312	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.835000	0.99442	2.639000	0.89480	0.557000	0.71058	GCC		0.453	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		32	50	0	0	0	1	0	32	50				
ATP5B	506	broad.mit.edu	37	12	57037371	57037371	+	Splice_Site	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:57037371C>T	ENST00000262030.3	-	5	658	c.608G>A	c.(607-609)gGg>gAg	p.G203E	ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Splice_Site_p.G203E|SNORD59A_ENST00000384304.1_RNA	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	203					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAAAAAGCCCTATAAGAGG	0.393																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e5-1		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							53.0	52.0	52.0					12																	57037371		2203	4300	6503	SO:0001630	splice_region_variant	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57037371C>T	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.608-1G>A	12.37:g.57037371C>T						ATP5B_ENST00000552919.1_Splice_Site_p.G203_splice	p.G203_splice	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			5	658	-			203					A8K4X0|Q14283	Splice_Site	SNP	ENST00000262030.3	37	c.607_splice	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.196681|5.196681	0.94960|0.94960	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020;ENST00000553007|ENST00000552959	T;T;T;D|.	0.86230|.	-1.34;-1.34;-1.34;-2.09|.	5.95|5.95	5.95|5.95	0.96441|0.96441	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91372|.	0.7278|.	H|H	0.98996|0.98996	4.395|4.395	0.80722|0.80722	D|D	1|1	P|.	0.50369|.	0.934|.	P|.	0.54590|.	0.756|.	D|.	0.94208|.	0.7456|.	10|.	0.87932|.	D|.	0|.	.|.	19.1503|19.1503	0.93485|0.93485	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	203|.	P06576|.	ATPB_HUMAN|.	E|X	203;203;142;104|139	ENSP00000262030:G203E;ENSP00000450297:G203E;ENSP00000446677:G142E;ENSP00000447571:G104E|.	ENSP00000262030:G203E|.	G|W	-|-	2|3	0|0	ATP5B|ATP5B	55323638|55323638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.688000|7.688000	0.84153|0.84153	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GGG|TGG		0.393	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686	Missense_Mutation	27	42	0	0	0	1	0	27	42				
MAN1A1	4121	broad.mit.edu	37	6	119510998	119510998	+	Silent	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr6:119510998G>A	ENST00000368468.3	-	10	1818	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	459					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.I459I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCCACTCTGCGATATAAGTTA	0.498																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			2	Substitution - coding silent(2)	p.I459I(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1375-1377)atC>atT		mannosidase, alpha, class 1A, member 1							73.0	68.0	70.0					6																	119510998		2203	4300	6503	SO:0001819	synonymous_variant	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119510998G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1377C>T	6.37:g.119510998G>A							p.I459I	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	10	1818	-		all_epithelial(87;0.173)	459					E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	ENST00000368468.3	37	c.1377C>T	CCDS5122.1																																																																																				0.498	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		7	50	0	0	0	1	0	7	50				
CASKIN2	57513	broad.mit.edu	37	17	73498194	73498194	+	Silent	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:73498194T>C	ENST00000321617.3	-	18	3547	c.2961A>G	c.(2959-2961)tcA>tcG	p.S987S	CASKIN2_ENST00000433559.2_Silent_p.S905S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	987	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAACAGTGTCTGATTCCGTGA	0.677																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2959-2961)tcA>tcG		CASK interacting protein 2							23.0	33.0	29.0					17																	73498194		2176	4261	6437	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498194T>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2961A>G	17.37:g.73498194T>C						CASKIN2_ENST00000433559.2_Silent_p.S905S	p.S987S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3547	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		987			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2961A>G	CCDS11723.1																																																																																				0.677	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		18	22	0	0	0	1	0	18	22				
UBE2W	55284	broad.mit.edu	37	8	74737473	74737473	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr8:74737473T>C	ENST00000602593.1	-	3	171	c.119A>G	c.(118-120)gAc>gGc	p.D40G	RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.D40G|UBE2W_ENST00000517608.1_Missense_Mutation_p.D69G|UBE2W_ENST00000419880.3_Missense_Mutation_p.D80G|UBE2W_ENST00000453587.2_Missense_Mutation_p.D40G|UBE2W_ENST00000602969.1_Missense_Mutation_p.D51G			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	40					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			ACCTTCCATGTCTACAATCCA	0.373																																					Pancreas(14;490 592 20090 21022 23311)	ENST00000517608.1																			0				kidney(1)|lung(1)	2						c.(205-207)gAc>gGc		ubiquitin-conjugating enzyme E2W (putative)							37.0	34.0	35.0					8																	74737473		1817	4079	5896	SO:0001583	missense	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74737473T>C	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"""Ubiquitin-conjugating enzymes E2"""	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.119A>G	8.37:g.74737473T>C	ENSP00000473561:p.Asp40Gly					UBE2W_ENST00000419880.3_Missense_Mutation_p.D80G|UBE2W_ENST00000453587.2_Missense_Mutation_p.D40G|RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.D40G|UBE2W_ENST00000602593.1_Missense_Mutation_p.D40G|UBE2W_ENST00000602969.1_Missense_Mutation_p.D51G	p.D69G			Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		3	206	-	Breast(64;0.0311)		40					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Missense_Mutation	SNP	ENST00000602593.1	37	c.206A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.32|16.32	3.089812|3.089812	0.55968|0.55968	.|.	.|.	ENSG00000104343|ENSG00000104343	ENST00000453587;ENST00000517608;ENST00000419880|ENST00000523278	T|.	0.36340|.	1.26|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.39517|0.39517	0.1081|0.1081	N|N	0.10733|0.10733	0.035|0.035	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.12156|.	0.005;0.004;0.007|.	T|T	0.34329|0.34329	-0.9833|-0.9833	10|5	0.32370|.	T|.	0.25|.	-7.7464|-7.7464	15.1964|15.1964	0.73092|0.73092	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	40;51;40|.	Q96B02;Q96B02-2;C9JJH0|.	UBE2W_HUMAN;.;.|.	G|A	40;40;51|36	ENSP00000403764:D40G|.	ENSP00000397453:D51G|.	D|T	-|-	2|1	0|0	UBE2W|UBE2W	74900027|74900027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.739000|7.739000	0.84976|0.84976	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.373	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		6	2	0	0	0	1	0	6	2				
SEMA7A	8482	broad.mit.edu	37	15	74708176	74708176	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:74708176C>T	ENST00000261918.4	-	8	1500	c.952G>A	c.(952-954)Gac>Aac	p.D318N	SEMA7A_ENST00000542748.1_Missense_Mutation_p.D153N|SEMA7A_ENST00000543145.2_Missense_Mutation_p.D304N	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	318	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						ACCCTGGTGTCCCTCCACTGG	0.592																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(952-954)Gac>Aac		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							96.0	78.0	84.0					15																	74708176		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74708176C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.952G>A	15.37:g.74708176C>T	ENSP00000261918:p.Asp318Asn					SEMA7A_ENST00000542748.1_Missense_Mutation_p.D153N|SEMA7A_ENST00000543145.2_Missense_Mutation_p.D304N	p.D318N	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			8	1500	-			318			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.952G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130696	0.56828	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.24151	1.87;1.87;1.87	4.8	2.78	0.32641	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.426837	0.26788	N	0.022495	T	0.10035	0.0246	N	0.17248	0.465	0.44024	D	0.996746	P;P	0.44734	0.705;0.842	B;B	0.36378	0.143;0.223	T	0.19257	-1.0311	10	0.02654	T	1	-31.0823	8.116	0.30944	0.1549:0.7598:0.0:0.0852	.	304;318	F5H1S0;O75326	.;SEM7A_HUMAN	N	318;304;153	ENSP00000261918:D318N;ENSP00000438966:D304N;ENSP00000441493:D153N	ENSP00000261918:D318N	D	-	1	0	SEMA7A	72495229	0.850000	0.29656	0.979000	0.43373	0.929000	0.56500	1.281000	0.33214	1.139000	0.42245	0.655000	0.94253	GAC		0.592	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		8	22	0	0	0	1	0	8	22				
NTRK3	4916	broad.mit.edu	37	15	88576211	88576211	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:88576211T>C	ENST00000360948.2	-	13	1623	c.1462A>G	c.(1462-1464)Atc>Gtc	p.I488V	NTRK3_ENST00000355254.2_Missense_Mutation_p.I488V|NTRK3_ENST00000317501.3_Missense_Mutation_p.I488V|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000357724.2_Missense_Mutation_p.I480V|NTRK3_ENST00000540489.2_Missense_Mutation_p.I488V|NTRK3_ENST00000394480.2_Missense_Mutation_p.I488V|NTRK3_ENST00000558676.1_Missense_Mutation_p.I480V|NTRK3_ENST00000542733.2_Missense_Mutation_p.I390V|NTRK3_ENST00000557856.1_Missense_Mutation_p.I480V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	488					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCGTGGTGATGCCGTGGTTG	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1462-1464)Atc>Gtc		neurotrophic tyrosine kinase, receptor, type 3							101.0	63.0	76.0					15																	88576211		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576211T>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1462A>G	15.37:g.88576211T>C	ENSP00000354207:p.Ile488Val	TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Missense_Mutation_p.I488V|NTRK3_ENST00000360948.2_Missense_Mutation_p.I488V|NTRK3_ENST00000357724.2_Missense_Mutation_p.I480V|NTRK3_ENST00000317501.3_Missense_Mutation_p.I488V|NTRK3_ENST00000542733.2_Missense_Mutation_p.I390V|NTRK3_ENST00000558676.1_Missense_Mutation_p.I480V|NTRK3_ENST00000355254.2_Missense_Mutation_p.I488V|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Missense_Mutation_p.I480V	p.I488V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1783	-			488					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1462A>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.407938	0.42715	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73047	-0.71;-0.67;-0.67;-0.71;-0.59;0.14;0.14	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	N	0.22421	0.69	0.58432	D	0.999995	B;B;B;B;B;B	0.30406	0.048;0.144;0.008;0.278;0.135;0.014	B;B;B;B;B;B	0.27500	0.022;0.037;0.007;0.053;0.08;0.007	T	0.58736	-0.7584	10	0.45353	T	0.12	.	13.9137	0.63883	0.0:0.0:0.0:1.0	.	390;480;480;488;488;488	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	V	488;488;480;488;390;488;488	ENSP00000377990:I488V;ENSP00000354207:I488V;ENSP00000350356:I480V;ENSP00000347397:I488V;ENSP00000437773:I390V;ENSP00000444673:I488V;ENSP00000318328:I488V	ENSP00000318328:I488V	I	-	1	0	NTRK3	86377215	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.776000	0.68924	2.061000	0.61500	0.528000	0.53228	ATC		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				18	13	0	0	0	1	0	18	13				
KLHL10	317719	broad.mit.edu	37	17	40001799	40001799	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:40001799T>C	ENST00000293303.4	+	3	1259	c.1106T>C	c.(1105-1107)gTg>gCg	p.V369A	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	369					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGGCATCAGGTGGCCCCGATG	0.438																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1105-1107)gTg>gCg		kelch-like family member 10							103.0	102.0	103.0					17																	40001799		1965	4147	6112	SO:0001583	missense	317719					cytoplasm		g.chr17:40001799T>C	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1106T>C	17.37:g.40001799T>C	ENSP00000293303:p.Val369Ala						p.V369A	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	1259	+		Breast(137;0.000162)	369					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1106T>C	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174246	0.78452	.	.	ENSG00000161594	ENST00000293303	T	0.78924	-1.22	6.17	6.17	0.99709	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.65498	2.005	0.58432	D	0.999996	P;P	0.48089	0.905;0.901	B;P	0.53224	0.416;0.721	T	0.82896	-0.0230	9	.	.	.	.	15.6463	0.77055	0.0:0.0:0.0:1.0	.	363;369	B4DXV2;Q6JEL2	.;KLH10_HUMAN	A	369	ENSP00000293303:V369A	.	V	+	2	0	KLHL10	37255325	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.436000	0.80404	2.371000	0.80710	0.533000	0.62120	GTG		0.438	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		38	74	0	0	0	1	0	38	74				
ZFHX4	79776	broad.mit.edu	37	8	77761931	77761931	+	Missense_Mutation	SNP	G	G	C	rs368967335	byFrequency	TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr8:77761931G>C	ENST00000521891.2	+	8	4277	c.3829G>C	c.(3829-3831)Gag>Cag	p.E1277Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1251Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1232Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1232Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGACTGTGTGGAGAAGCTGCT	0.428										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(3829-3831)Gag>Cag		zinc finger homeobox 4							73.0	67.0	69.0					8																	77761931		2008	4197	6205	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77761931G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3829G>C	8.37:g.77761931G>C	ENSP00000430497:p.Glu1277Gln	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1232Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1232Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1251Q	p.E1277Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		8	4277	+			1232					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3829G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533819	0.64972	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.76;0.74;0.73	4.38	4.38	0.52667	.	0.000000	0.42548	U	0.000690	T	0.43743	0.1261	L	0.39566	1.225	0.80722	D	1	B;B;B	0.30281	0.18;0.275;0.275	B;B;B	0.37422	0.127;0.249;0.249	T	0.25710	-1.0124	10	0.14656	T	0.56	.	17.4736	0.87653	0.0:0.0:1.0:0.0	.	1232;1232;1277	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	1277;1277;1232;1232;1251	ENSP00000430497:E1277Q;ENSP00000399605:E1232Q;ENSP00000050961:E1232Q;ENSP00000430848:E1251Q	ENSP00000050961:E1232Q	E	+	1	0	ZFHX4	77924486	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.756000	0.85195	2.417000	0.82017	0.555000	0.69702	GAG		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	32	0	0	0	1	0	3	32				
SMARCD2	6603	broad.mit.edu	37	17	61911857	61911857	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:61911857G>A	ENST00000448276.2	-	7	1163	c.898C>T	c.(898-900)Ctc>Ttc	p.L300F	SMARCD2_ENST00000323347.10_Missense_Mutation_p.L252F|SMARCD2_ENST00000225742.9_Missense_Mutation_p.L225F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	300					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						ATGAGCAGGAGGGTGCACTTG	0.602											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(898-900)Ctc>Ttc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							157.0	152.0	153.0					17																	61911857		2033	4202	6235	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61911857G>A	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.898C>T	17.37:g.61911857G>A	ENSP00000392617:p.Leu300Phe		OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1057	SMARCD2_ENST00000225742.9_Missense_Mutation_p.L225F|SMARCD2_ENST00000323347.10_Missense_Mutation_p.L252F	p.L300F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			7	1163	-			300					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.898C>T	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	9.763	1.170598	0.21621	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T;T	0.75260	0.81;-0.92;0.81	5.53	4.56	0.56223	SWIB/MDM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	0.982;1.0;1.0	P;D;D	0.78314	0.608;0.991;0.991	T	0.79065	-0.1956	10	0.72032	D	0.01	-29.2791	6.9807	0.24702	0.0845:0.0:0.7414:0.174	.	252;263;300	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	F	300;242;263;252	ENSP00000392617:L300F;ENSP00000225742:L242F;ENSP00000318451:L252F	ENSP00000225742:L242F	L	-	1	0	SMARCD2	59265589	0.774000	0.28592	1.000000	0.80357	0.629000	0.37895	1.120000	0.31271	1.559000	0.49555	-0.195000	0.12781	CTC		0.602	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		41	83	0	0	0	1	0	41	83				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	47	0	0	0	1	0	32	47				
ACSL6	23305	broad.mit.edu	37	5	131309076	131309076	+	Silent	SNP	G	G	A	rs373328179		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:131309076G>A	ENST00000379240.1	-	12	1164	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	ACSL6_ENST00000379246.1_Silent_p.H348H|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000543479.1_Silent_p.H337H|ACSL6_ENST00000296869.4_Silent_p.H362H|ACSL6_ENST00000379244.1_Silent_p.H337H|ACSL6_ENST00000379249.3_Silent_p.H337H|ACSL6_ENST00000431707.1_Silent_p.H317H|ACSL6_ENST00000379264.2_Silent_p.H362H|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000379272.2_Silent_p.H352H|ACSL6_ENST00000544770.1_Silent_p.H246H			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	337					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACGCCCTCCGTGGCAATAGA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20373	0.001		0.0	False		,,,				2504	0.0					ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1084-1086)caC>caT		acyl-CoA synthetase long-chain family member 6		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	82.0	70.0	74.0		1086,981,1011,1044,,1086	-11.4	0.3	5		74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	ACSL6	NM_001009185.2,NM_001205247.1,NM_001205248.1,NM_001205250.1,NM_001205251.1,NM_015256.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	362/723,327/688,337/698,348/709,,362/723	131309076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131309076G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1011C>T	5.37:g.131309076G>A						ACSL6_ENST00000431707.1_Silent_p.H317H|ACSL6_ENST00000379249.3_Silent_p.H337H|ACSL6_ENST00000379246.1_Silent_p.H348H|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000544770.1_Silent_p.H246H|ACSL6_ENST00000296869.4_Silent_p.H362H|ACSL6_ENST00000543479.1_Silent_p.H337H|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379240.1_Silent_p.H337H|ACSL6_ENST00000379272.2_Silent_p.H352H|ACSL6_ENST00000379244.1_Silent_p.H337H	p.H362H	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1194	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	337					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	37	c.1086C>T																																																																																					0.552	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		21	14	0	0	0	1	0	21	14				
FAM71B	153745	broad.mit.edu	37	5	156593091	156593091	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:156593091C>T	ENST00000302938.4	-	1	184	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	30						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTACAATTGTCGTTGCAGGTC	0.403																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(88-90)cGa>cAa		family with sequence similarity 71, member B							137.0	131.0	133.0					5																	156593091		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156593091C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.89G>A	5.37:g.156593091C>T	ENSP00000305596:p.Arg30Gln						p.R30Q	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	184	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	30					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.89G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	6.047	0.377072	0.11466	.	.	ENSG00000170613	ENST00000302938	T	0.04970	3.52	4.67	2.9	0.33743	.	0.174270	0.35151	N	0.003414	T	0.02929	0.0087	N	0.12887	0.27	0.09310	N	1	P	0.35600	0.511	B	0.23419	0.046	T	0.44877	-0.9299	10	0.38643	T	0.18	-3.3554	8.0345	0.30484	0.0:0.8053:0.0:0.1947	.	30	Q8TC56	FA71B_HUMAN	Q	30	ENSP00000305596:R30Q	ENSP00000305596:R30Q	R	-	2	0	FAM71B	156525669	0.000000	0.05858	0.004000	0.12327	0.097000	0.18754	0.218000	0.17622	0.663000	0.31027	-0.143000	0.13931	CGA		0.403	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		8	128	0	0	0	1	0	8	128				
HAO2	51179	broad.mit.edu	37	1	119934802	119934802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:119934802C>T	ENST00000325945.3	+	6	914	c.841C>T	c.(841-843)Cga>Tga	p.R281*	HAO2_ENST00000361035.4_Nonsense_Mutation_p.R294*	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	281	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.R281*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGGCGGGGTCCGAACTGGCAA	0.527																																						ENST00000361035.4																			1	Substitution - Nonsense(1)	p.R281*(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(880-882)Cga>Tga		hydroxyacid oxidase 2 (long chain)							150.0	141.0	144.0					1																	119934802		2203	4300	6503	SO:0001587	stop_gained	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119934802C>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.841C>T	1.37:g.119934802C>T	ENSP00000316339:p.Arg281*					HAO2_ENST00000325945.3_Nonsense_Mutation_p.R281*	p.R294*	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	7	1163	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	281	LGA -> HED (in Ref. 2; AAF14000).		FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Nonsense_Mutation	SNP	ENST00000325945.3	37	c.880C>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626756	0.96671	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	.	.	.	6.07	0.452	0.16634	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.9401	9.9385	0.41565	0.4639:0.4741:0.0:0.062	.	.	.	.	X	294;281	.	.	R	+	1	2	HAO2	119736325	1.000000	0.71417	0.191000	0.23289	0.697000	0.40408	1.796000	0.38794	0.094000	0.17404	0.655000	0.94253	CGA		0.527	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		24	4	0	0	0	1	0	24	4				
MYL5	4636	broad.mit.edu	37	4	672778	672778	+	Missense_Mutation	SNP	G	G	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:672778G>C	ENST00000400159.2	+	3	248	c.143G>C	c.(142-144)gGc>gCc	p.G48A	MYL5_ENST00000505477.1_Missense_Mutation_p.G7A|MYL5_ENST00000511290.1_Missense_Mutation_p.G7A|MYL5_ENST00000506838.1_Missense_Mutation_p.G7A	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of muscle contraction (GO:0006937)	muscle myosin complex (GO:0005859)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(1)|kidney(1)|lung(1)	3						AACCGAGATGGCTTCATTGAC	0.627																																						ENST00000506838.1																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(19-21)gGc>gCc		myosin, light chain 5, regulatory							108.0	117.0	114.0					4																	672778		2195	4299	6494	SO:0001583	missense	4636				regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr4:672778G>C		CCDS43197.1	4p16	2013-01-10	2006-09-29		ENSG00000215375	ENSG00000215375		"""Myosins / Light chain"", ""EF-hand domain containing"""	7586	protein-coding gene	gene with protein product		160782	"""myosin, light polypeptide 5, regulatory"""			1284596	Standard	NM_002477		Approved		uc003gav.3	Q02045	OTTHUMG00000159971	ENST00000400159.2:c.143G>C	4.37:g.672778G>C	ENSP00000383023:p.Gly48Ala					MYL5_ENST00000505477.1_Missense_Mutation_p.G7A|MYL5_ENST00000400159.2_Missense_Mutation_p.G48A|MYL5_ENST00000511290.1_Missense_Mutation_p.G7A	p.G7A			Q02045	MYL5_HUMAN			4	2544	+			48					Q8IXL8	Missense_Mutation	SNP	ENST00000400159.2	37	c.20G>C	CCDS43197.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469368	0.84533	.	.	ENSG00000215375	ENST00000506838;ENST00000505477;ENST00000511290;ENST00000400159;ENST00000507804	D;D;D;D;T	0.86097	-2.07;-2.07;-2.07;-2.0;-1.42	4.57	4.57	0.56435	EF-hand-like domain (1);	0.000000	0.31199	U	0.008061	D	0.94565	0.8249	H	0.99545	4.62	0.41617	D	0.98894	D	0.53885	0.963	P	0.54100	0.742	D	0.97011	0.9736	10	0.87932	D	0	.	14.8516	0.70300	0.0:0.0:1.0:0.0	.	48	Q02045	MYL5_HUMAN	A	7;7;7;48;53	ENSP00000427153:G7A;ENSP00000423118:G7A;ENSP00000425162:G7A;ENSP00000383023:G48A;ENSP00000427317:G53A	ENSP00000383023:G48A	G	+	2	0	MYL5	662778	1.000000	0.71417	0.204000	0.23530	0.865000	0.49528	8.557000	0.90700	2.084000	0.62774	0.591000	0.81541	GGC		0.627	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358570.2	NM_002477		27	66	0	0	0	1	0	27	66				
RPL26L1	51121	broad.mit.edu	37	5	172395514	172395514	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:172395514A>G	ENST00000521476.1	+	3	345	c.221A>G	c.(220-222)tAc>tGc	p.Y74C	RPL26L1_ENST00000519239.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000519974.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000265100.2_Missense_Mutation_p.Y74C			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	74					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCCAGGTGTACAGAAAGAAA	0.478																																						ENST00000521476.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(220-222)tAc>tGc		ribosomal protein L26-like 1							201.0	185.0	191.0					5																	172395514		2203	4300	6503	SO:0001583	missense	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172395514A>G	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.221A>G	5.37:g.172395514A>G	ENSP00000428223:p.Tyr74Cys					RPL26L1_ENST00000265100.2_Missense_Mutation_p.Y74C|RPL26L1_ENST00000519974.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000519239.1_Missense_Mutation_p.Y74C	p.Y74C			Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	345	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	74					B3KY82|D3DQM0	Missense_Mutation	SNP	ENST00000521476.1	37	c.221A>G	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073621	0.76415	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519156	.	.	.	4.58	3.36	0.38483	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	H	0.96208	3.785	0.80722	D	1	P	0.52463	0.953	P	0.62382	0.901	D	0.86643	0.1893	9	0.66056	D	0.02	.	10.5786	0.45242	0.9224:0.0:0.0776:0.0	.	74	Q9UNX3	RL26L_HUMAN	C	74	.	ENSP00000265100:Y74C	Y	+	2	0	RPL26L1	172328120	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	6.885000	0.75606	0.841000	0.35020	0.533000	0.62120	TAC		0.478	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		5	174	0	0	0	1	0	5	174				
TDRD7	23424	broad.mit.edu	37	9	100204054	100204054	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr9:100204054G>A	ENST00000355295.4	+	6	1047	c.752G>A	c.(751-753)gGc>gAc	p.G251D	TDRD7_ENST00000422139.2_Missense_Mutation_p.G177D	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	251	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CATAACAATGGCATTTGGATA	0.343																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(751-753)gGc>gAc		tudor domain containing 7							94.0	92.0	92.0					9																	100204054		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100204054G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.752G>A	9.37:g.100204054G>A	ENSP00000347444:p.Gly251Asp					TDRD7_ENST00000422139.2_Missense_Mutation_p.G177D	p.G251D	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			6	1047	+		Acute lymphoblastic leukemia(62;0.158)	251			Lotus/OST-HTH 2.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.752G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185973	0.78789	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.45668	0.89;0.92	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63686	-0.6581	10	0.87932	D	0	-20.1432	14.4582	0.67431	0.0:0.0:1.0:0.0	.	251	Q8NHU6	TDRD7_HUMAN	D	251;177	ENSP00000347444:G251D;ENSP00000413608:G177D	ENSP00000347444:G251D	G	+	2	0	TDRD7	99243875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.959000	0.76031	2.675000	0.91044	0.655000	0.94253	GGC		0.343	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		28	55	0	0	0	1	0	28	55				
PCDH7	5099	broad.mit.edu	37	4	30921804	30921804	+	Silent	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:30921804G>A	ENST00000543491.1	+	2	3204	c.3204G>A	c.(3202-3204)gtG>gtA	p.V1068V	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTTCTGTTGTGAGTCAGCCTC	0.428																																						ENST00000543491.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3202-3204)gtG>gtA		protocadherin 7							80.0	85.0	83.0					4																	30921804		2061	4206	6267	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30921804G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3204G>A	4.37:g.30921804G>A						PCDH7_ENST00000509925.1_3'UTR	p.V1068V			O60245	PCDH7_HUMAN			2	3204	+			0					O60246|O60247|Q4W5C4	Silent	SNP	ENST00000543491.1	37	c.3204G>A	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866300	0.17250	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	T	0.77011	0.4068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74150	-0.3758	4	.	.	.	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	.	.	.	K	758	.	.	E	+	1	0	PCDH7	30530902	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.351000	0.73022	2.788000	0.95919	0.650000	0.86243	GAG		0.428	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		19	39	0	0	0	1	0	19	39				
PYGL	5836	broad.mit.edu	37	14	51382685	51382685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr14:51382685C>T	ENST00000216392.7	-	10	1429	c.1097G>A	c.(1096-1098)tGg>tAg	p.W366*	PYGL_ENST00000532462.1_Nonsense_Mutation_p.W366*|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Nonsense_Mutation_p.W332*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	366					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGTGAGCTCCCATGCCTGGGG	0.632																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1096-1098)tGg>tAg		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						79.0	72.0	74.0					14																	51382685		2203	4300	6503	SO:0001587	stop_gained	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51382685C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1097G>A	14.37:g.51382685C>T	ENSP00000216392:p.Trp366*					PYGL_ENST00000544180.2_Nonsense_Mutation_p.W332*|PYGL_ENST00000532462.1_Nonsense_Mutation_p.W366*	p.W366*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			10	1429	-	all_epithelial(31;0.00825)|Breast(41;0.148)		366					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Nonsense_Mutation	SNP	ENST00000216392.7	37	c.1097G>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	41	8.610155	0.98884	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	8.8246	18.7902	0.91971	0.0:1.0:0.0:0.0	.	.	.	.	X	366;332;366	.	ENSP00000216392:W366X	W	-	2	0	PYGL	50452435	1.000000	0.71417	0.998000	0.56505	0.546000	0.35178	7.750000	0.85110	2.752000	0.94435	0.655000	0.94253	TGG		0.632	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		23	32	0	0	0	1	0	23	32				
RASGRP1	10125	broad.mit.edu	37	15	38793398	38793398	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:38793398G>T	ENST00000310803.5	-	13	1806	c.1629C>A	c.(1627-1629)aaC>aaA	p.N543K	RASGRP1_ENST00000561180.1_Missense_Mutation_p.N594K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N508K|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000450598.2_Missense_Mutation_p.N508K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N495K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.N508K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	543					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTCTTGGAAGTTGTGAGGAA	0.522																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1627-1629)aaC>aaA		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							90.0	90.0	90.0					15																	38793398		1925	4148	6073	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38793398G>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1629C>A	15.37:g.38793398G>T	ENSP00000310244:p.Asn543Lys					RASGRP1_ENST00000558164.1_Missense_Mutation_p.N508K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.N508K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N508K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N495K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.N594K	p.N543K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	13	1806	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	543					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.1629C>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355160	0.61293	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159	D;D;D	0.92545	-3.06;-3.06;-3.06	5.29	3.41	0.39046	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.91492	0.7314	L	0.27944	0.81	0.58432	D	0.999993	P;D;D;D	0.67145	0.939;0.985;0.996;0.995	P;D;D;D	0.70487	0.735;0.944;0.969;0.962	D	0.90557	0.4513	10	0.87932	D	0	-31.9235	8.4606	0.32925	0.2954:0.0:0.7046:0.0	.	508;508;543;508	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	K	543;508;508;508;495	ENSP00000310244:N543K;ENSP00000388540:N508K;ENSP00000444762:N495K	ENSP00000310244:N543K	N	-	3	2	RASGRP1	36580690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.300000	0.51834	0.796000	0.33947	0.655000	0.94253	AAC		0.522	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		25	34	1	0	4.72057e-08	1	4.72057e-08	25	34				
FUBP1	8880	broad.mit.edu	37	1	78429797	78429797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:78429797G>A	ENST00000370768.2	-	12	1072	c.991C>T	c.(991-993)Cga>Tga	p.R331*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.R331*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.R352*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	331	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGTTGACATCGGTCTGGAGGT	0.323			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(991-993)Cga>Tga		far upstream element (FUSE) binding protein 1							234.0	227.0	229.0					1																	78429797		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78429797G>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.991C>T	1.37:g.78429797G>A	ENSP00000359804:p.Arg331*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.R331*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.R352*	p.R331*			Q96AE4	FUBP1_HUMAN			12	1078	-			331			KH 3.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.991C>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135069	0.94517	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.81	0.557	0.17260	.	0.052464	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-14.5785	16.917	0.86154	0.0:0.0:0.1913:0.8087	.	.	.	.	X	330;331;331;330;352	.	ENSP00000294623:R330X	R	-	1	2	FUBP1	78202385	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	0.942000	0.29017	0.025000	0.15241	0.650000	0.86243	CGA		0.323	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		48	18	0	0	0	1	0	48	18				
ARHGAP25	9938	broad.mit.edu	37	2	69046419	69046419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:69046419C>T	ENST00000295381.3	+	9	1584	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*	ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.R382*|ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.R83*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.R350*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.R390*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.R383*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	389					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGAAGACCTCCGAATTTCTAG	0.532																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1165-1167)Cga>Tga		Rho GTPase activating protein 25							93.0	89.0	91.0					2																	69046419		2203	4300	6503	SO:0001587	stop_gained	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046419C>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1165C>T	2.37:g.69046419C>T	ENSP00000295381:p.Arg389*					ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.R83*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.R382*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.R390*|ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.R350*	p.R389*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			9	1584	+			389					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Nonsense_Mutation	SNP	ENST00000295381.3	37	c.1165C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.532791	0.97641	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	.	.	.	5.22	-1.09	0.09904	.	1.129380	0.06436	N	0.725123	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	0.0831	0.00033	0.2508:0.2151:0.2234:0.3107	.	.	.	.	X	389;390;350;382;383;383;383;374;83	.	ENSP00000295381:R389X	R	+	1	2	ARHGAP25	68899923	0.000000	0.05858	0.000000	0.03702	0.717000	0.41224	-0.419000	0.07071	-0.092000	0.12417	-0.251000	0.11542	CGA		0.532	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		36	48	0	0	0	1	0	36	48				
MAPKBP1	23005	broad.mit.edu	37	15	42107938	42107938	+	Silent	SNP	G	G	A	rs143874014		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:42107938G>A	ENST00000456763.2	+	13	1648	c.1452G>A	c.(1450-1452)tcG>tcA	p.S484S	MAPKBP1_ENST00000221214.6_Silent_p.S361S|MAPKBP1_ENST00000514566.1_Silent_p.S478S|MAPKBP1_ENST00000457542.2_Silent_p.S478S|MAPKBP1_ENST00000260357.7_Silent_p.S317S	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	484										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCATCCGCTCGGTGTGTGTCA	0.597																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1432-1434)tcG>tcA		mitogen-activated protein kinase binding protein 1		G	,	0,4406		0,0,2203	82.0	71.0	74.0		1452,1434	-1.0	1.0	15	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MAPKBP1	NM_001128608.1,NM_014994.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	484/1515,478/1509	42107938	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42107938G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1452G>A	15.37:g.42107938G>A						MAPKBP1_ENST00000514566.1_Silent_p.S478S|MAPKBP1_ENST00000456763.2_Silent_p.S484S|MAPKBP1_ENST00000260357.7_Silent_p.S317S|MAPKBP1_ENST00000221214.6_Silent_p.S361S	p.S478S	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	12	1720	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	484					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.1434G>A	CCDS45239.1																																																																																				0.597	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		18	19	0	0	0	1	0	18	19				
PLA2G4E	123745	broad.mit.edu	37	15	42298316	42298316	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:42298316C>T	ENST00000399518.3	-	4	883	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.V104M	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	115	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AACTCTAGCACGTTCTAGGGG	0.507																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(397-399)Gtg>Atg		phospholipase A2, group IVE							122.0	124.0	123.0					15																	42298316		2086	4226	6312	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42298316C>T		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.397G>A	15.37:g.42298316C>T	ENSP00000382434:p.Val133Met					PLA2G4E_ENST00000413860.2_Missense_Mutation_p.V104M	p.V133M	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	4	883	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	115			C2.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.397G>A	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298110	0.60086	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.41065	1.01;2.89	5.66	3.6	0.41247	.	0.173268	0.29286	U	0.012599	T	0.54029	0.1833	M	0.69358	2.11	0.34580	D	0.714372	D	0.61697	0.99	P	0.60117	0.869	T	0.65569	-0.6136	10	0.87932	D	0	-5.6365	7.528	0.27666	0.0:0.6507:0.0:0.3493	.	104	C9JK77	.	M	133;104	ENSP00000382434:V133M;ENSP00000413897:V104M	ENSP00000382434:V133M	V	-	1	0	PLA2G4E	40085608	0.069000	0.21087	0.786000	0.31890	0.973000	0.67179	0.254000	0.18314	0.625000	0.30304	0.563000	0.77884	GTG		0.507	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		25	39	0	0	0	1	0	25	39				
PCDHA2	56146	broad.mit.edu	37	5	140176522	140176522	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:140176522C>T	ENST00000526136.1	+	1	1973	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A658V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A658V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	658	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAACCAGCGTTGACAGCC	0.662																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1972-1974)gCg>gTg																																						SO:0001583	missense	0							g.chr5:140176522C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1973C>T	5.37:g.140176522C>T	ENSP00000431748:p.Ala658Val					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A658V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A658V|PCDHA1_ENST00000394633.3_Intron	p.A658V	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1973	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1973C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	5.092	0.202555	0.09652	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53206	0.63;0.63;0.63	3.91	2.06	0.26882	Cadherin (4);Cadherin-like (1);	1.311660	0.06097	U	0.664734	T	0.37598	0.1009	L	0.31926	0.97	0.09310	N	1	B;B;B	0.21452	0.056;0.04;0.056	B;B;B	0.21708	0.022;0.036;0.022	T	0.31223	-0.9951	10	0.44086	T	0.13	.	6.4388	0.21839	0.3208:0.5932:0.0:0.0861	.	658;658;658	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	658	ENSP00000430584:A658V;ENSP00000367372:A658V;ENSP00000431748:A658V	ENSP00000367372:A658V	A	+	2	0	PCDHA2	140156706	0.001000	0.12720	0.019000	0.16419	0.005000	0.04900	1.480000	0.35464	0.239000	0.21243	-0.151000	0.13558	GCG		0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		42	65	0	0	0	1	0	42	65				
PLEKHG6	55200	broad.mit.edu	37	12	6425456	6425456	+	Silent	SNP	C	C	T			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:6425456C>T	ENST00000396988.3	+	7	872	c.642C>T	c.(640-642)agC>agT	p.S214S	PLEKHG6_ENST00000011684.7_Silent_p.S214S|PLEKHG6_ENST00000536531.1_Silent_p.S214S|PLEKHG6_ENST00000449001.2_Silent_p.S182S	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	214	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATGTCCCCAGCCTGATTCGAA	0.622																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(544-546)agC>agT		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							37.0	36.0	36.0					12																	6425456		2178	4246	6424	SO:0001819	synonymous_variant	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6425456C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.642C>T	12.37:g.6425456C>T						PLEKHG6_ENST00000396988.3_Silent_p.S214S|PLEKHG6_ENST00000011684.7_Silent_p.S214S|PLEKHG6_ENST00000536531.1_Silent_p.S214S	p.S182S	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			6	1040	+			214			DH.		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	ENST00000396988.3	37	c.546C>T	CCDS8541.1																																																																																				0.622	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		5	0	0	0	0	1	0	5	0				
CHPF2	54480	broad.mit.edu	37	7	150932567	150932567	+	Missense_Mutation	SNP	C	C	T	rs56366346	byFrequency	TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr7:150932567C>T	ENST00000035307.2	+	2	2210	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	CHPF2_ENST00000495645.1_Missense_Mutation_p.R225W|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	233					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCTGTTGTCACGGAGTCTCCT	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		16335	0.001		0.001	False		,,,				2504	0.0					ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(697-699)Cgg>Tgg		chondroitin polymerizing factor 2							94.0	88.0	90.0					7																	150932567		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150932567C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.697C>T	7.37:g.150932567C>T	ENSP00000035307:p.Arg233Trp					CHPF2_ENST00000495645.1_Missense_Mutation_p.R225W	p.R233W	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			2	2210	+			233					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.697C>T	CCDS34779.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.9	4.580036	0.86645	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.39229	1.09;1.09	5.85	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.70026	-0.4985	10	0.87932	D	0	-28.1056	16.8326	0.85948	0.1369:0.8631:0.0:0.0	rs56366346	233;225	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	W	225;233;233	ENSP00000418914:R225W;ENSP00000035307:R233W	ENSP00000035307:R233W	R	+	1	2	CHPF2	150563500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.066000	0.71185	2.767000	0.95098	0.655000	0.94253	CGG		0.602	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		42	68	0	0	0	1	0	42	68				
KIF15	56992	broad.mit.edu	37	3	44879796	44879796	+	Silent	SNP	T	T	C			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr3:44879796T>C	ENST00000326047.4	+	27	3350	c.3201T>C	c.(3199-3201)caT>caC	p.H1067H	KIF15_ENST00000425755.1_Silent_p.H702H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1067					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACCTGGCTCATGCCACTGAGC	0.468																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(3199-3201)caT>caC		kinesin family member 15							62.0	65.0	64.0					3																	44879796		2203	4300	6503	SO:0001819	synonymous_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44879796T>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3201T>C	3.37:g.44879796T>C						KIF15_ENST00000425755.1_Silent_p.H702H	p.H1067H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	27	3350	+			1067					Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	37	c.3201T>C	CCDS33744.1																																																																																				0.468	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			19	22	0	0	0	1	0	19	22				
CPXCR1	53336	broad.mit.edu	37	X	88008826	88008826	+	Silent	SNP	A	A	G			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chrX:88008826A>G	ENST00000276127.4	+	3	670	c.411A>G	c.(409-411)tcA>tcG	p.S137S	CPXCR1_ENST00000373111.1_Silent_p.S137S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	137							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTTCAACTTCATGGAGAGTCC	0.388																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(409-411)tcA>tcG		CPX chromosome region, candidate 1							52.0	46.0	48.0					X																	88008826		2203	4300	6503	SO:0001819	synonymous_variant	53336					intracellular	zinc ion binding	g.chrX:88008826A>G	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.411A>G	X.37:g.88008826A>G						CPXCR1_ENST00000373111.1_Silent_p.S137S	p.S137S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	670	+			137					B2R9F9|D3DTE7|Q96RS3	Silent	SNP	ENST00000276127.4	37	c.411A>G	CCDS14458.1																																																																																				0.388	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		26	9	0	0	0	1	0	26	9				
FBXO2	26232	broad.mit.edu	37	1	11710604	11710604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:11710604delC	ENST00000354287.4	-	2	651	c.310delG	c.(310-312)gagfs	p.E106fs	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	106					cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCCTCCTCCACGCCGCCC	0.697																																						ENST00000354287.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(310-312)agfs		F-box protein 2							17.0	20.0	19.0					1																	11710604		2195	4294	6489	SO:0001589	frameshift_variant	26232				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	g.chr1:11710604delC	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.310delG	1.37:g.11710604delC	ENSP00000346240:p.Glu106fs						p.E106fs	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	2	651	-	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	106					B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Frame_Shift_Del	DEL	ENST00000354287.4	37	c.310delG	CCDS130.1																																																																																				0.697	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1	NM_012168		2	4						2	4	---	---	---	---
CCT7	10574	broad.mit.edu	37	2	73474935	73474936	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:73474935_73474936insAA	ENST00000258091.5	+	7	805_806	c.664_665insAA	c.(664-666)tacfs	p.Y222fs	CCT7_ENST00000538797.1_Frame_Shift_Ins_p.Y94fs|CCT7_ENST00000539919.1_Frame_Shift_Ins_p.Y178fs|CCT7_ENST00000398422.2_Frame_Shift_Ins_p.Y18fs|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Frame_Shift_Ins_p.Y135fs|CCT7_ENST00000537131.1_Frame_Shift_Ins_p.Y122fs	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	222					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GACTTTCTCTTACGCTGGGTTT	0.381																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(532-534)cgcfs		chaperonin containing TCP1, subunit 7 (eta)																																				SO:0001589	frameshift_variant	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73474935_73474936insAA	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	Exception_encountered	2.37:g.73474935_73474936insAA	ENSP00000258091:p.Tyr222fs					CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Frame_Shift_Ins_p.R135fs|CCT7_ENST00000537131.1_Frame_Shift_Ins_p.R122fs|CCT7_ENST00000398422.2_Frame_Shift_Ins_p.R18fs|CCT7_ENST00000538797.1_Frame_Shift_Ins_p.R94fs|CCT7_ENST00000258091.5_Frame_Shift_Ins_p.R222fs	p.R178fs	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			8	903_904	+			222					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Frame_Shift_Ins	INS	ENST00000258091.5	37	c.532_533insAA	CCDS46336.1																																																																																				0.381	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			25	40						25	40	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37051937	37051937	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:37051937delG	ENST00000282516.8	+	41	7510	c.7011delG	c.(7009-7011)aagfs	p.K2337fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2337fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2337					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCGGAACAAGGCTGATCAGC	0.318																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7009-7011)aafs		Nipped-B homolog (Drosophila)							84.0	89.0	87.0					5																	37051937		2203	4300	6503	SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051937delG	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7011delG	5.37:g.37051937delG	ENSP00000282516:p.Lys2337fs					NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2337fs	p.K2337fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7510	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2337					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.7011delG	CCDS3920.1																																																																																				0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		36	54						36	54	---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169695476	169695476	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:169695476delG	ENST00000046794.5	-	8	1149	c.534delC	c.(532-534)cccfs	p.P178fs	LCP2_ENST00000521416.1_5'Flank	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	178					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTTTCCCAGAGGGGGGCCGGT	0.652											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(532-534)ccfs		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)							2.0	2.0	2.0					5																	169695476		1282	3176	4458	SO:0001589	frameshift_variant	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169695476delG		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.534delC	5.37:g.169695476delG	ENSP00000046794:p.Pro178fs		OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1879		p.P178fs	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	8	1149	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	178					A8KA25|Q53XV4	Frame_Shift_Del	DEL	ENST00000046794.5	37	c.534delC	CCDS47339.1																																																																																				0.652	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		2	4						2	4	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr7:100369721delT	ENST00000348028.3	+	0	5590				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ctctaaattcttttttttttt	0.532																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369721delT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369721delT						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.532	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
RP11-274B21.1	0	broad.mit.edu	37	7	128210234	128210235	+	RNA	INS	-	-	TT	rs577759783|rs57917869	byFrequency	TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr7:128210234_128210235insTT	ENST00000605862.1	+	0	189																											agttttagttcttTTTTTTTTT	0.441																																						ENST00000605862.1																			0																																																			0							g.chr7:128210234_128210235insTT																													7.37:g.128210243_128210244dupTT														0	189	+									RNA	INS	ENST00000605862.1	37																																																																																						0.441	RP11-274B21.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468355.1			3	5						3	5	---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37440681	37440682	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr9:37440681_37440682delAG	ENST00000307750.4	-	2	2055_2056	c.1867_1868delCT	c.(1867-1869)ctgfs	p.L623fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TGTCAAAGTCAGAAAAGTTTTG	0.47																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(1867-1869)gfs		zinc finger and BTB domain containing 5																																				SO:0001589	frameshift_variant	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37440681_37440682delAG	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1867_1868delCT	9.37:g.37440681_37440682delAG	ENSP00000307604:p.Leu623fs						p.L623fs	NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	2055_2056	-			623						Frame_Shift_Del	DEL	ENST00000307750.4	37	c.1867_1868delCT	CCDS6610.1																																																																																				0.470	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		32	65						32	65	---	---	---	---
AC002331.1	0	broad.mit.edu	37	16	26599065	26599068	+	lincRNA	DEL	ACAG	ACAG	-	rs71134607|rs142408431	byFrequency	TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr16:26599065_26599068delACAG	ENST00000443373.1	-	0	104																											ACATACAGACacagacagacagac	0.353																																						ENST00000443373.1																			0																																																			0							g.chr16:26599065_26599068delACAG																													16.37:g.26599073_26599076delACAG														0	104	-									RNA	DEL	ENST00000443373.1	37																																																																																						0.353	AC002331.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000133457.1			2	4						2	4	---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6524258	6524259	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:6524258_6524259delCA	ENST00000361413.3	-	7	1522_1523	c.1164_1165delTG	c.(1162-1167)agtgaafs	p.SE388fs	KIAA0753_ENST00000589033.1_5'Flank|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.SE89fs|KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.SE89fs	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	388						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CTCCGAATTTCACTGAAACATT	0.441																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1162-1167)agaafs		KIAA0753																																				SO:0001589	frameshift_variant	9851					centrosome		g.chr17:6524258_6524259delCA		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1164_1165delTG	17.37:g.6524258_6524259delCA	ENSP00000355250:p.Ser388fs					KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.SE89fs|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.SE89fs	p.SE388fs	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	7	1522_1523	-			388					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Frame_Shift_Del	DEL	ENST00000361413.3	37	c.1164_1165delTG	CCDS42247.1																																																																																				0.441	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		43	79						43	79	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42794540	42794550	+	Frame_Shift_Del	DEL	TTCCTCCTCAG	TTCCTCCTCAG	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr19:42794540_42794550delTTCCTCCTCAG	ENST00000575354.2	+	10	1660_1670	c.1620_1630delTTCCTCCTCAG	c.(1618-1632)gcttcctcctcagccfs	p.ASSSA540fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.ASSSA1449fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.ASSSA540fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	540	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCGCCTGCTTCCTCCTCAGCCTCGGCAGC	0.687			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4345-4359)gcccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794540_42794550delTTCCTCCTCAG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1620_1630delTTCCTCCTCAG	19.37:g.42794540_42794550delTTCCTCCTCAG	ENSP00000458663:p.Ala540fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.ASSSA540fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.ASSSA540fs	p.ASSSA1449fs			Q96RK0	CIC_HUMAN			11	4415_4425	+		Prostate(69;0.00682)	540					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.4347_4357delTTCCTCCTCAG	CCDS12601.1																																																																																				0.687	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			26	11						26	11	---	---	---	---
FERMT1	55612	broad.mit.edu	37	20	6078223	6078223	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr20:6078223delA	ENST00000217289.4	-	7	1693	c.905delT	c.(904-906)ttafs	p.L302fs	FERMT1_ENST00000536936.1_Frame_Shift_Del_p.L45fs	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	302	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AATTTCTTCTAAGAGAATGGC	0.403																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17	GRCh37	CM040274	FERMT1	M		c.(904-906)tafs		fermitin family member 1							144.0	136.0	138.0					20																	6078223		2203	4300	6503	SO:0001589	frameshift_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6078223delA	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.905delT	20.37:g.6078223delA	ENSP00000217289:p.Leu302fs					FERMT1_ENST00000536936.1_Frame_Shift_Del_p.L45fs	p.L302fs	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			7	1693	-			302			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Frame_Shift_Del	DEL	ENST00000217289.4	37	c.905delT	CCDS13098.1																																																																																				0.403	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		43	54						43	54	---	---	---	---
