#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
MT-CO1	4512	broad.mit.edu	37	M	6320	6320	+	Silent	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chrM:6320T>C	ENST00000361624.2	+	1	417	c.417T>C	c.(415-417)ccT>ccC	p.P139P	MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	139					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TACTCCCACCCTGGAGCCTCC	0.502																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(415-417)ccT>ccC		mitochondrially encoded cytochrome c oxidase I																																				SO:0001819	synonymous_variant	4512							g.chrM:6320T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.417T>C	M.37:g.6320T>C							p.139_139insP							1	417	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.417T>C																																																																																					0.502	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		7	38	0	0	0	0.307466	0	7	38				
CDC42BPA	8476	broad.mit.edu	37	1	227216783	227216783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:227216783C>T	ENST00000366769.3	-	29	5193	c.3902G>A	c.(3901-3903)tGt>tAt	p.C1301Y	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.C1281Y|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.C1301Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.C1314Y|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.C1336Y|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.C1220Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.C1273Y	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TACGGTTTGACACCCTTTAGT	0.468																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(3901-3903)tGt>tAt		CDC42 binding protein kinase alpha (DMPK-like)							67.0	55.0	59.0					1																	227216783		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227216783C>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3902G>A	1.37:g.227216783C>T	ENSP00000355731:p.Cys1301Tyr					CDC42BPA_ENST00000366767.3_Missense_Mutation_p.C1220Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.C1273Y|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.C1336Y|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.C1301Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.C1281Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.C1314Y	p.C1301Y	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			29	5193	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1314			CNH.			Missense_Mutation	SNP	ENST00000366769.3	37	c.3902G>A	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394074	0.83011	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04;3.04;3.04	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;1.0;0.999;1.0;1.0;0.999	T	0.31724	-0.9933	10	0.87932	D	0	.	19.3729	0.94495	0.0:1.0:0.0:0.0	.	1281;1273;616;198;1220;1301;1336;503	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.;.	Y	1301;1220;1301;1336;1273;616;1281;1314	ENSP00000355731:C1301Y;ENSP00000355729:C1220Y;ENSP00000335341:C1301Y;ENSP00000355728:C1336Y;ENSP00000355726:C1273Y;ENSP00000443275:C1281Y;ENSP00000355727:C1314Y	ENSP00000335341:C1301Y	C	-	2	0	CDC42BPA	225283406	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.665000	0.90641	0.585000	0.79938	TGT		0.468	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		5	51	0	0	0	0.184627	0	5	51				
FIGNL1	63979	broad.mit.edu	37	7	50514941	50514941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:50514941C>G	ENST00000419119.1	-	2	1598	c.45G>C	c.(43-45)caG>caC	p.Q15H	FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q15H|FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q15H|FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q15H|FIGNL1_ENST00000435566.1_Missense_Mutation_p.Q15H			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	15					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AGTAATTCTTCTGCCATTCAC	0.413																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(43-45)caG>caC		fidgetin-like 1							49.0	41.0	44.0					7																	50514941		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514941C>G	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.45G>C	7.37:g.50514941C>G	ENSP00000410811:p.Gln15His					FIGNL1_ENST00000435566.1_Missense_Mutation_p.Q15H|FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q15H|FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q15H|FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q15H	p.Q15H			Q6PIW4	FIGL1_HUMAN			2	1598	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	15					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.45G>C	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595055	0.66219	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000435566;ENST00000436590;ENST00000422854;ENST00000440350;ENST00000420829;ENST00000448788	T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.36	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	M	0.70275	2.135	0.49915	D	0.999836	D	0.71674	0.998	P	0.60789	0.879	T	0.44757	-0.9307	10	0.87932	D	0	-11.9296	10.8226	0.46614	0.0:0.8529:0.0:0.1471	.	15	Q6PIW4	FIGL1_HUMAN	H	15	ENSP00000349356:Q15H;ENSP00000378924:Q15H;ENSP00000399997:Q15H;ENSP00000410811:Q15H;ENSP00000394070:Q15H;ENSP00000403012:Q15H;ENSP00000388471:Q15H	ENSP00000349356:Q15H	Q	-	3	2	FIGNL1	50482435	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.600000	0.61083	1.366000	0.46076	0.563000	0.77884	CAG		0.413	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		13	26	0	0	0	0.457914	0	13	26				
PLA2G4F	255189	broad.mit.edu	37	15	42442333	42442333	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:42442333C>G	ENST00000382396.4	-	10	978	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.E298Q			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	298					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGAGCCACCTCCTGGCCCTGA	0.617																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(892-894)Gag>Cag		phospholipase A2, group IVF							82.0	73.0	76.0					15																	42442333		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42442333C>G		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.892G>C	15.37:g.42442333C>G	ENSP00000371833:p.Glu298Gln					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.E298Q	p.E298Q	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	10	983	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	298					Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.892G>C	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615821	0.28801	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.01438	4.89;4.95	4.7	3.75	0.43078	Lysophospholipase, catalytic domain (1);	0.441758	0.18956	N	0.126528	T	0.01287	0.0042	L	0.39020	1.185	0.80722	D	1	B;B	0.21381	0.055;0.055	B;B	0.12837	0.008;0.008	T	0.54470	-0.8289	10	0.15499	T	0.54	-21.3764	6.1725	0.20424	0.0:0.6871:0.2031:0.1099	.	85;298	A2RRC4;Q68DD2	.;PA24F_HUMAN	Q	294;298;298;298;298	ENSP00000380442:E298Q;ENSP00000371833:E298Q	ENSP00000290497:E294Q	E	-	1	0	PLA2G4F	40229625	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	1.166000	0.31834	1.061000	0.40601	0.655000	0.94253	GAG		0.617	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		3	37	0	0	0	0.150653	0	3	37				
FOXG1	2290	broad.mit.edu	37	14	29237058	29237058	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:29237058G>C	ENST00000313071.4	+	1	772	c.573G>C	c.(571-573)atG>atC	p.M191I	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.M191I|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	191					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CGCTCATCATGATGGCCATCC	0.617																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(571-573)atG>atC		forkhead box G1							40.0	41.0	40.0					14																	29237058		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237058G>C		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.573G>C	14.37:g.29237058G>C	ENSP00000339004:p.Met191Ile					FOXG1_ENST00000313071.4_Missense_Mutation_p.M191I	p.M191I			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	942	+			191					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.573G>C	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360962	0.82353	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95238	-3.65;-3.65	3.09	3.09	0.35607	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.94729	0.8299	L	0.33710	1.025	0.80722	D	1	D	0.60160	0.987	D	0.71656	0.974	D	0.94990	0.8133	10	0.72032	D	0.01	.	13.7386	0.62833	0.0:0.0:1.0:0.0	.	191	P55316	FOXG1_HUMAN	I	191	ENSP00000371975:M191I;ENSP00000339004:M191I	ENSP00000339004:M191I	M	+	3	0	FOXG1	28306809	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.437000	0.66544	1.265000	0.44215	0.298000	0.19748	ATG		0.617	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			4	40	0	0	0	0.150653	0	4	40				
TECPR1	25851	broad.mit.edu	37	7	97861158	97861158	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:97861158G>T	ENST00000447648.2	-	13	2231	c.1932C>A	c.(1930-1932)gaC>gaA	p.D644E	TECPR1_ENST00000379795.3_Missense_Mutation_p.D645E|TECPR1_ENST00000542604.1_Missense_Mutation_p.D574E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	644	PH.				autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGGATGCTGTCCCGGACGC	0.657																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1930-1932)gaC>gaA		tectonin beta-propeller repeat containing 1							85.0	96.0	92.0					7																	97861158		2090	4208	6298	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97861158G>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1932C>A	7.37:g.97861158G>T	ENSP00000404923:p.Asp644Glu					TECPR1_ENST00000542604.1_Missense_Mutation_p.D574E|TECPR1_ENST00000379795.3_Missense_Mutation_p.D645E	p.D644E			Q7Z6L1	TCPR1_HUMAN			13	2231	-			644			PH.		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.1932C>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361948	0.82353	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.36340	1.31;1.31;1.26	5.25	4.35	0.52113	Pleckstrin homology domain (1);	0.048492	0.85682	D	0.000000	T	0.56031	0.1958	M	0.66939	2.045	0.35456	D	0.796103	D;D	0.89917	1.0;1.0	D;D	0.74023	0.974;0.982	T	0.67122	-0.5750	10	0.59425	D	0.04	-46.3347	13.3356	0.60516	0.078:0.0:0.922:0.0	.	574;644	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	E	644;645;574	ENSP00000404923:D644E;ENSP00000369121:D645E;ENSP00000441121:D574E	ENSP00000369121:D645E	D	-	3	2	TECPR1	97699094	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.595000	0.54016	2.459000	0.83118	0.655000	0.94253	GAC		0.657	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		6	126	1	0	0.0293803	0.248553	0.0301112	6	126				
GAP43	2596	broad.mit.edu	37	3	115395104	115395104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:115395104C>T	ENST00000305124.6	+	2	641	c.275C>T	c.(274-276)cCa>cTa	p.P92L	GAP43_ENST00000393780.3_Missense_Mutation_p.P128L	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	92					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAAGCAGCCCCAGCCACTGGC	0.602																																						ENST00000393780.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(382-384)cCa>cTa		growth associated protein 43							49.0	51.0	50.0					3																	115395104		2203	4300	6503	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395104C>T		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.275C>T	3.37:g.115395104C>T	ENSP00000305010:p.Pro92Leu					GAP43_ENST00000305124.6_Missense_Mutation_p.P92L	p.P128L	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	851	+			92					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.383C>T	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533156	0.45073	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.44083	0.93;0.93	4.74	4.74	0.60224	Neuromodulin (GAP-43), C-terminal (1);	0.279965	0.35870	N	0.002939	T	0.45935	0.1367	L	0.54323	1.7	0.54753	D	0.99998	P;B	0.40578	0.722;0.324	B;B	0.42319	0.383;0.119	T	0.52434	-0.8576	10	0.66056	D	0.02	-0.0453	17.9099	0.88930	0.0:1.0:0.0:0.0	.	128;92	A8K0Y4;P17677	.;NEUM_HUMAN	L	92;128	ENSP00000305010:P92L;ENSP00000377372:P128L	ENSP00000305010:P92L	P	+	2	0	GAP43	116877794	0.103000	0.21917	0.919000	0.36401	0.014000	0.08584	3.252000	0.51461	2.444000	0.82710	0.655000	0.94253	CCA		0.602	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		6	47	0	0	0	0.335167	0	6	47				
NKD1	85407	broad.mit.edu	37	16	50667326	50667326	+	Silent	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:50667326C>A	ENST00000268459.3	+	10	1271	c.1047C>A	c.(1045-1047)ccC>ccA	p.P349P		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	349					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGAGGTCCCCCAAGGCCCAGG	0.667																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(1045-1047)ccC>ccA		naked cuticle homolog 1 (Drosophila)							46.0	54.0	51.0					16																	50667326		2198	4300	6498	SO:0001819	synonymous_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667326C>A	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1047C>A	16.37:g.50667326C>A							p.P349P	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1271	+		all_cancers(37;0.229)	349					B2RC39|Q8WZ08	Silent	SNP	ENST00000268459.3	37	c.1047C>A	CCDS10743.1																																																																																				0.667	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			6	59	1	0	5.18039e-06	0.278610	5.61663e-06	6	59				
AP1G1	164	broad.mit.edu	37	16	71768545	71768545	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:71768545G>C	ENST00000299980.4	-	22	2775	c.2334C>G	c.(2332-2334)atC>atG	p.I778M	AP1G1_ENST00000433195.2_Missense_Mutation_p.I801M|AP1G1_ENST00000564155.1_Missense_Mutation_p.I203M|AP1G1_ENST00000569748.1_Missense_Mutation_p.I778M|AP1G1_ENST00000393512.3_Missense_Mutation_p.I781M|AP1G1_ENST00000423132.2_Missense_Mutation_p.I781M	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	778	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGACTTGTGTGATGGTCCCCG	0.453																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(2332-2334)atC>atG		adaptor-related protein complex 1, gamma 1 subunit							262.0	260.0	261.0					16																	71768545		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71768545G>C	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2334C>G	16.37:g.71768545G>C	ENSP00000299980:p.Ile778Met					AP1G1_ENST00000569748.1_Missense_Mutation_p.I778M|AP1G1_ENST00000564155.1_Missense_Mutation_p.I203M|AP1G1_ENST00000423132.2_Missense_Mutation_p.I781M|AP1G1_ENST00000433195.2_Missense_Mutation_p.I801M|AP1G1_ENST00000393512.3_Missense_Mutation_p.I781M	p.I778M	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			22	2775	-		Ovarian(137;0.125)	778			GAE.		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.2334C>G	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831739	0.50845	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.74	3.67	0.42095	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.045925	0.85682	D	0.000000	T	0.52885	0.1762	M	0.69248	2.105	0.58432	D	0.999993	B;B;B	0.30021	0.015;0.265;0.012	B;B;B	0.43018	0.106;0.405;0.073	T	0.56619	-0.7949	10	0.56958	D	0.05	-10.3468	8.5879	0.33668	0.1353:0.0:0.7397:0.125	.	778;801;781	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	M	778;781;781;801;304	ENSP00000299980:I778M;ENSP00000377148:I781M;ENSP00000409153:I781M;ENSP00000403259:I801M	ENSP00000299980:I778M	I	-	3	3	AP1G1	70326046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.424000	0.59868	1.433000	0.47394	0.655000	0.94253	ATC		0.453	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			13	193	0	0	0	0.435327	0	13	193				
LAMA5	3911	broad.mit.edu	37	20	60888187	60888187	+	Missense_Mutation	SNP	C	C	T	rs200879732	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr20:60888187C>T	ENST00000252999.3	-	65	8978	c.8912G>A	c.(8911-8913)cGg>cAg	p.R2971Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2971	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGACACGAGCCGCAGCTCCTG	0.652													.|||	2	0.000399361	0.0	0.0	5008	,	,		14825	0.001		0.0	False		,,,				2504	0.001					ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(8911-8913)cGg>cAg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						31.0	30.0	30.0					20																	60888187		2192	4289	6481	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60888187C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8912G>A	20.37:g.60888187C>T	ENSP00000252999:p.Arg2971Gln						p.R2971Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		65	8978	-	Breast(26;1.57e-08)		2971			Laminin G-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.8912G>A	CCDS33502.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	16.13	3.034758	0.54896	.	.	ENSG00000130702	ENST00000252999	T	0.55234	0.53	4.36	4.36	0.52297	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.060905	0.64402	U	0.000008	T	0.63768	0.2539	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	T	0.59380	-0.7465	10	0.12766	T	0.61	.	16.4913	0.84201	0.0:1.0:0.0:0.0	.	2971	O15230	LAMA5_HUMAN	Q	2971	ENSP00000252999:R2971Q	ENSP00000252999:R2971Q	R	-	2	0	LAMA5	60321582	0.999000	0.42202	0.968000	0.41197	0.013000	0.08279	4.479000	0.60236	1.963000	0.57068	0.550000	0.68814	CGG		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		14	7	0	0	0	0.457914	0	14	7				
TCHH	7062	broad.mit.edu	37	1	152085245	152085245	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:152085245C>T	ENST00000368804.1	-	2	447	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	150					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCTCCCTCAGCTAGCTCC	0.582																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(448-450)Gag>Aag		trichohyalin							220.0	222.0	221.0					1																	152085245		2073	4212	6285	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085245C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.448G>A	1.37:g.152085245C>T	ENSP00000357794:p.Glu150Lys						p.E150K	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	447	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		150					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.448G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	8.356	0.831925	0.16820	.	.	ENSG00000159450	ENST00000368804	T	0.04809	3.55	5.01	2.1	0.27182	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	P	0.43094	0.799	B	0.36845	0.234	T	0.35500	-0.9786	9	0.09084	T	0.74	-6.2154	6.6655	0.23039	0.0:0.6853:0.1478:0.1669	.	150	Q07283	TRHY_HUMAN	K	150	ENSP00000357794:E150K	ENSP00000357794:E150K	E	-	1	0	TCHH	150351869	0.030000	0.19436	0.973000	0.42090	0.192000	0.23643	0.745000	0.26259	0.288000	0.22398	0.552000	0.68991	GAG		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		41	184	0	0	0	0.847076	0	41	184				
DNAH2	146754	broad.mit.edu	37	17	7734557	7734557	+	Silent	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:7734557C>A	ENST00000572933.1	+	80	13844	c.12384C>A	c.(12382-12384)acC>acA	p.T4128T	DNAH2_ENST00000389173.2_Silent_p.T4128T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4128					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCACAAACCCTCTTTGATA	0.557																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12382-12384)acC>acA		dynein, axonemal, heavy chain 2							129.0	134.0	132.0					17																	7734557		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734557C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12384C>A	17.37:g.7734557C>A						DNAH2_ENST00000389173.2_Silent_p.T4128T	p.T4128T			Q9P225	DYH2_HUMAN			80	13844	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4128					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12384C>A	CCDS32551.1																																																																																				0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		54	118	1	0	1.0331e-37	0.870114	1.18892e-37	54	118				
PCDHB7	56129	broad.mit.edu	37	5	140553835	140553835	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:140553835C>T	ENST00000231137.3	+	1	1593	c.1419C>T	c.(1417-1419)gtC>gtT	p.V473V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	473	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGCAGTGTCAGCGCCACAG	0.637																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1417-1419)gtC>gtT									106.0	105.0	106.0					5																	140553835		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553835C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1419C>T	5.37:g.140553835C>T							p.V473V	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1593	+			473			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1419C>T	CCDS4249.1																																																																																				0.637	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		6	85	0	0	0	0.278610	0	6	85				
USP15	9958	broad.mit.edu	37	12	62715321	62715321	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:62715321G>C	ENST00000280377.5	+	5	610	c.552G>C	c.(550-552)atG>atC	p.M184I	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.M184I|USP15_ENST00000353364.3_Missense_Mutation_p.M184I|USP15_ENST00000312635.6_Missense_Mutation_p.M184I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	184					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACAAATACATGAGTAACACAT	0.328																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(550-552)atG>atC		ubiquitin specific peptidase 15							79.0	79.0	79.0					12																	62715321		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62715321G>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.552G>C	12.37:g.62715321G>C	ENSP00000280377:p.Met184Ile					USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.M184I|USP15_ENST00000312635.6_Missense_Mutation_p.M184I|USP15_ENST00000353364.3_Missense_Mutation_p.M184I	p.M184I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	5	610	+			184					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.552G>C	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.23|18.23	3.577129|3.577129	0.65878|0.65878	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836;ENST00000546694|ENST00000549237	T;T;T|.	0.18960|.	2.19;2.18;2.2|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.091715|.	0.85682|.	D|.	0.000000|.	T|.	0.73249|.	0.3563|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P;P|.	0.51791|.	0.913;0.948;0.549|.	P;P;B|.	0.54460|.	0.571;0.753;0.335|.	T|.	0.69401|.	-0.5155|.	9|.	.|.	.|.	.|.	-11.4891|-11.4891	19.7406|19.7406	0.96230|0.96230	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	184;184;184|.	Q9Y4E8;Q9Y4E8-2;Q9H8G9|.	UBP15_HUMAN;.;.|.	I|S	184;184;184;184;130;63|180	ENSP00000258123:M184I;ENSP00000280377:M184I;ENSP00000377264:M184I|.	.|.	M|X	+|+	3|2	0|2	USP15|USP15	61001588|61001588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.776000|9.776000	0.99001|0.99001	2.659000|2.659000	0.90383|0.90383	0.650000|0.650000	0.86243|0.86243	ATG|TGA		0.328	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		6	42	0	0	0	0.217242	0	6	42				
AOC3	8639	broad.mit.edu	37	17	41003847	41003847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:41003847C>T	ENST00000308423.2	+	1	647	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	163					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TCATGGAGGCCCCCTGCCCTA	0.617																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(487-489)Ccc>Tcc		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						30.0	30.0	30.0					17																	41003847		2187	4284	6471	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41003847C>T	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.487C>T	17.37:g.41003847C>T	ENSP00000312326:p.Pro163Ser						p.P163S	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	647	+		Breast(137;0.000143)	163					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.487C>T	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426858	0.25726	.	.	ENSG00000131471	ENST00000308423	T	0.01821	4.62	4.25	4.25	0.50352	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (2);	0.470248	0.22684	N	0.056912	T	0.02494	0.0076	M	0.70595	2.14	0.80722	D	1	B	0.28512	0.214	B	0.17433	0.018	T	0.48210	-0.9055	10	0.16420	T	0.52	.	9.5072	0.39053	0.1665:0.6912:0.1423:0.0	.	163	Q16853	AOC3_HUMAN	S	163	ENSP00000312326:P163S	ENSP00000312326:P163S	P	+	1	0	AOC3	38257373	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	3.476000	0.53143	2.361000	0.80049	0.491000	0.48974	CCC		0.617	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		11	37	0	0	0	0.387290	0	11	37				
TRIP11	9321	broad.mit.edu	37	14	92471271	92471271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:92471271C>T	ENST00000267622.4	-	11	3422	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1017					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTCCGTTTCAGCTTTAGAT	0.303			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3049-3051)Gaa>Aaa		thyroid hormone receptor interactor 11							45.0	47.0	47.0					14																	92471271		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471271C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3049G>A	14.37:g.92471271C>T	ENSP00000267622:p.Glu1017Lys						p.E1017K	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3422	-			1017					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3049G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803144	0.50315	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.05996	3.36	5.91	5.03	0.67393	.	0.101660	0.64402	N	0.000003	T	0.10981	0.0268	L	0.34521	1.04	0.49483	D	0.999797	D;P	0.56521	0.976;0.944	P;P	0.52424	0.698;0.69	T	0.10200	-1.0640	10	0.39692	T	0.17	.	15.1107	0.72355	0.0:0.9324:0.0:0.0676	.	753;1017	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	1017;753	ENSP00000267622:E1017K	ENSP00000267622:E1017K	E	-	1	0	TRIP11	91541024	1.000000	0.71417	0.667000	0.29798	0.184000	0.23303	7.773000	0.85462	1.525000	0.49052	-0.259000	0.10710	GAA		0.303	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			6	63	0	0	0	0.217242	0	6	63				
FOXO1	2308	broad.mit.edu	37	13	41134162	41134162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:41134162C>T	ENST00000379561.5	-	2	1850	c.1466G>A	c.(1465-1467)aGc>aAc	p.S489N	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	489	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CAGAACCCGGCTGTTGGGCTG	0.522																																						ENST00000379561.5																		PAX7/FOXO1(197)|PAX3/FOXO1(749)	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20						c.(1465-1467)aGc>aAc		forkhead box O1							60.0	57.0	58.0					13																	41134162		2203	4300	6503	SO:0001583	missense	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41134162C>T		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1466G>A	13.37:g.41134162C>T	ENSP00000368880:p.Ser489Asn						p.S489N	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	1850	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	489					O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	c.1466G>A	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424473	0.25639	.	.	ENSG00000150907	ENST00000379561	D	0.93659	-3.26	6.02	5.18	0.71444	.	0.366915	0.34652	N	0.003791	D	0.88757	0.6523	L	0.31926	0.97	0.32466	N	0.543525	B	0.02656	0.0	B	0.04013	0.001	D	0.86157	0.1591	10	0.25751	T	0.34	-23.4182	14.2556	0.66051	0.0:0.9291:0.0:0.0709	.	489	Q12778	FOXO1_HUMAN	N	489	ENSP00000368880:S489N	ENSP00000368880:S489N	S	-	2	0	FOXO1	40032162	1.000000	0.71417	0.996000	0.52242	0.563000	0.35712	2.902000	0.48703	1.551000	0.49450	0.655000	0.94253	AGC		0.522	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		12	79	0	0	0	0.411799	0	12	79				
PRIM2	5558	broad.mit.edu	37	6	57398239	57398239	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:57398239G>T	ENST00000607273.1	+	10	1029	c.942G>T	c.(940-942)aaG>aaT	p.K314N	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	314					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TATTTCTGAAGGGCATTGGTT	0.388																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(940-942)aaG>aaT		primase, DNA, polypeptide 2 (58kDa)							224.0	207.0	213.0					6																	57398239		1962	4161	6123	SO:0001583	missense	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57398239G>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.942G>T	6.37:g.57398239G>T	ENSP00000475738:p.Lys314Asn					PRIM2_ENST00000389488.2_3'UTR	p.K314N	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	10	1029	+			314					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37	c.942G>T																																																																																					0.388	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		11	106	1	0	3.07112e-06	0.387290	3.34736e-06	11	106				
KMT2C	58508	broad.mit.edu	37	7	151859794	151859794	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:151859794G>C	ENST00000262189.6	-	43	11086	c.10868C>G	c.(10867-10869)tCa>tGa	p.S3623*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S3623*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3623					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATGGGGAGTTGATGGAGCCTT	0.448																																						ENST00000355193.2																			0											c.(10867-10869)tCa>tGa		lysine (K)-specific methyltransferase 2C							91.0	83.0	86.0					7																	151859794		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151859794G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10868C>G	7.37:g.151859794G>C	ENSP00000262189:p.Ser3623*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S3623*	p.S3623*							43	11086	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.10868C>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	21.215047|21.215047	0.99938|0.99938	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|.	.|.	.|.	4.99|4.99	4.11|4.11	0.48088|0.48088	.|.	.|0.000000	.|0.34750	.|N	.|0.003715	T|.	0.72495|.	0.3467|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75628|.	-0.3252|.	4|.	.|0.62326	.|D	.|0.03	.|.	13.2593|13.2593	0.60097|0.60097	0.0756:0.0:0.9244:0.0|0.0756:0.0:0.9244:0.0	.|.	.|.	.|.	.|.	M|X	1128|3623;3623;209	.|.	.|ENSP00000262189:S3623X	I|S	-|-	3|2	3|0	MLL3|MLL3	151490727|151490727	1.000000|1.000000	0.71417|0.71417	0.825000|0.825000	0.32803|0.32803	0.977000|0.977000	0.68977|0.68977	7.448000|7.448000	0.80631|0.80631	1.333000|1.333000	0.45449|0.45449	0.650000|0.650000	0.86243|0.86243	ATC|TCA		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			12	56	0	0	0	0.387290	0	12	56				
CCDC176	80127	broad.mit.edu	37	14	74523883	74523883	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:74523883C>T	ENST00000394009.3	+	11	1623	c.1500C>T	c.(1498-1500)acC>acT	p.T500T	ALDH6A1_ENST00000553458.1_3'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000492247.2_Silent_p.T44T|CCDC176_ENST00000553773.1_Silent_p.T225T	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	500					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											TCTTCATCACCCAGCAAATTG	0.393																																						ENST00000394009.3																			0											c.(1498-1500)acC>acT		coiled-coil domain containing 176							82.0	81.0	81.0					14																	74523883		2203	4300	6503	SO:0001819	synonymous_variant	80127							g.chr14:74523883C>T	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1500C>T	14.37:g.74523883C>T						CCDC176_ENST00000553773.1_Silent_p.T225T|ALDH6A1_ENST00000553458.1_3'UTR|CCDC176_ENST00000492247.2_Silent_p.T44T|AC005484.5_ENST00000492026.1_RNA	p.T500T	NM_025057.2	NP_079333.2					11	1623	+								Q0P604|Q9H5P8	Silent	SNP	ENST00000394009.3	37	c.1500C>T	CCDS32119.2																																																																																				0.393	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		15	81	0	0	0	0.457914	0	15	81				
ATP5F1	515	broad.mit.edu	37	1	111996851	111996851	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:111996851G>C	ENST00000369722.3	+	3	702	c.96G>C	c.(94-96)agG>agC	p.R32S	ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_Intron	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	32					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGCAACAAGGACCTTTCATA	0.418																																						ENST00000369722.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(94-96)agG>agC		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1							94.0	89.0	91.0					1																	111996851		2203	4300	6503	SO:0001583	missense	515				ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	g.chr1:111996851G>C	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.96G>C	1.37:g.111996851G>C	ENSP00000358737:p.Arg32Ser					ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_Intron	p.R32S	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	702	+		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	32					Q9BQ68|Q9BRU8	Missense_Mutation	SNP	ENST00000369722.3	37	c.96G>C	CCDS836.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041175	0.35989	.	.	ENSG00000116459	ENST00000369722	T	0.32988	1.43	4.79	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	M	0.76328	2.33	0.80722	D	1	D;D	0.57257	0.979;0.979	P;P	0.47528	0.549;0.549	T	0.05194	-1.0900	10	0.22706	T	0.39	.	10.1457	0.42762	0.2338:0.0:0.7662:0.0	.	32;32	Q08ET0;P24539	.;AT5F1_HUMAN	S	32	ENSP00000358737:R32S	ENSP00000358737:R32S	R	+	3	2	ATP5F1	111798374	0.993000	0.37304	0.999000	0.59377	0.051000	0.14879	1.033000	0.30191	1.145000	0.42336	0.467000	0.42956	AGG		0.418	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	NM_001688		9	71	0	0	0	0.307466	0	9	71				
TSLP	85480	broad.mit.edu	37	5	110408586	110408586	+	Splice_Site	SNP	A	A	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:110408586A>G	ENST00000344895.3	+	2	371	c.172A>G	c.(172-174)Acc>Gcc	p.T58A	TSLP_ENST00000420978.2_Splice_Site_p.T58A|TSLP_ENST00000379706.4_5'Flank	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	58						extracellular space (GO:0005615)				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTCTTCCAGACCAAAAGTAC	0.478																																						ENST00000420978.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						c.e3-1		thymic stromal lymphopoietin							109.0	98.0	102.0					5																	110408586		2202	4300	6502	SO:0001630	splice_region_variant	85480					extracellular space	cytokine activity	g.chr5:110408586A>G	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.172-1A>G	5.37:g.110408586A>G						TSLP_ENST00000344895.3_Splice_Site_p.T58_splice	p.T58_splice			Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	3	1594	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	58					Q8IW99	Splice_Site	SNP	ENST00000344895.3	37	c.171_splice	CCDS4101.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276272	0.40294	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	4.68	0.66	0.17868	.	1.298570	0.05363	N	0.533967	T	0.35682	0.0940	N	0.24115	0.695	0.41241	D	0.986644	B	0.27882	0.192	B	0.20384	0.029	T	0.07328	-1.0778	8	.	.	.	0.0065	7.2114	0.25935	0.7121:0.0:0.2879:0.0	.	58	Q969D9	TSLP_HUMAN	A	58	.	.	T	+	1	0	TSLP	110436485	0.143000	0.22626	0.099000	0.21106	0.158000	0.22134	0.237000	0.17985	0.015000	0.14971	-0.290000	0.09829	ACC		0.478	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035	Missense_Mutation	3	77	0	0	0	0.115264	0	3	77				
LRP8	7804	broad.mit.edu	37	1	53736921	53736921	+	Silent	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:53736921G>C	ENST00000306052.6	-	7	1205	c.1104C>G	c.(1102-1104)ctC>ctG	p.L368L	RP4-784A16.1_ENST00000432653.1_RNA|LRP8_ENST00000347547.2_Silent_p.L198L|LRP8_ENST00000354412.3_Silent_p.L239L|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.L368L	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	368	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCTGGTCCAGGAGCTGGAAGC	0.577																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1102-1104)ctC>ctG		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							95.0	85.0	89.0					1																	53736921		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53736921G>C	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1104C>G	1.37:g.53736921G>C						LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.L368L|LRP8_ENST00000354412.3_Silent_p.L239L|LRP8_ENST00000347547.2_Silent_p.L198L	p.L368L	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			7	1205	-			368			EGF-like 1.		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.1104C>G	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	6.629	0.484572	0.12641	.	.	ENSG00000157193	ENST00000475501	.	.	.	5.38	0.122	0.14702	.	.	.	.	.	T	0.51227	0.1662	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39251	-0.9623	4	.	.	.	.	5.5998	0.17347	0.4703:0.2392:0.2905:0.0	.	.	.	.	C	57	.	.	S	-	2	0	LRP8	53509509	0.994000	0.37717	0.997000	0.53966	0.779000	0.44077	0.598000	0.24074	0.131000	0.18576	-0.140000	0.14226	TCC		0.577	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		7	109	0	0	0	0.387290	0	7	109				
MYH13	8735	broad.mit.edu	37	17	10248844	10248844	+	Silent	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:10248844G>T	ENST00000418404.3	-	13	1516	c.1353C>A	c.(1351-1353)acC>acA	p.T451T	MYH13_ENST00000252172.4_Silent_p.T451T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	451	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGCTGCTTGGTGTCCAGCT	0.512																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1351-1353)acC>acA		myosin, heavy chain 13, skeletal muscle							176.0	167.0	170.0					17																	10248844		2203	4297	6500	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248844G>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1353C>A	17.37:g.10248844G>T						MYH13_ENST00000570743.1_Silent_p.T451T|MYH13_ENST00000252172.4_Silent_p.T451T	p.T451T			Q9UKX3	MYH13_HUMAN			13	1516	-			451			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.1353C>A	CCDS45613.1																																																																																				0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		24	88	1	0	1.74807e-11	0.750413	1.96777e-11	24	88				
CABLES2	81928	broad.mit.edu	37	20	60966046	60966046	+	Missense_Mutation	SNP	C	C	T	rs576077601		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr20:60966046C>T	ENST00000279101.5	-	10	1426	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	473					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGGGTGAGGCGCCTGTAATG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17744	0.0		0.0	False		,,,				2504	0.0					ENST00000279101.5																			0				endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11						c.(1417-1419)cGc>cAc		Cdk5 and Abl enzyme substrate 2							99.0	96.0	97.0					20																	60966046		2203	4300	6503	SO:0001583	missense	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60966046C>T	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1418G>A	20.37:g.60966046C>T	ENSP00000279101:p.Arg473His						p.R473H	NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		10	1426	-	Breast(26;2.05e-08)		473					Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	c.1418G>A	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133035	0.94517	.	.	ENSG00000149679	ENST00000370560;ENST00000279101	T	0.61980	0.06	5.43	4.48	0.54585	.	0.051760	0.85682	D	0.000000	T	0.79191	0.4404	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82579	-0.0387	10	0.87932	D	0	-37.051	15.5475	0.76118	0.1394:0.8606:0.0:0.0	.	473	Q9BTV7	CABL2_HUMAN	H	261;473	ENSP00000279101:R473H	ENSP00000279101:R473H	R	-	2	0	CABLES2	60399441	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.353000	0.79414	1.278000	0.44430	0.655000	0.94253	CGC		0.612	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		24	71	0	0	0	0.654019	0	24	71				
IGSF10	285313	broad.mit.edu	37	3	151166371	151166371	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:151166371C>T	ENST00000282466.3	-	4	1397	c.1398G>A	c.(1396-1398)agG>agA	p.R466R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	466	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTTCACTGGCCTCATCTCTG	0.453																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1396-1398)agG>agA		immunoglobulin superfamily, member 10							228.0	204.0	212.0					3																	151166371		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166371C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1398G>A	3.37:g.151166371C>T							p.R466R	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1397	-			466			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.1398G>A	CCDS3160.1																																																																																				0.453	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		33	162	0	0	0	0.740014	0	33	162				
NCK2	8440	broad.mit.edu	37	2	106498121	106498121	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:106498121G>A	ENST00000233154.4	+	4	1006	c.564G>A	c.(562-564)ctG>ctA	p.L188L	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.L188L	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	188					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GCGCCTCGCTGAGCAATGGCC	0.647																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(562-564)ctG>ctA		NCK adaptor protein 2							58.0	64.0	62.0					2																	106498121		2203	4300	6503	SO:0001819	synonymous_variant	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498121G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.564G>A	2.37:g.106498121G>A						NCK2_ENST00000393349.2_Silent_p.L188L|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	p.L188L	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			4	1006	+			188					D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	c.564G>A	CCDS33266.1																																																																																				0.647	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		12	94	0	0	0	0.479597	0	12	94				
KMT2C	58508	broad.mit.edu	37	7	151859737	151859737	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:151859737G>C	ENST00000262189.6	-	43	11143	c.10925C>G	c.(10924-10926)tCt>tGt	p.S3642C	KMT2C_ENST00000355193.2_Missense_Mutation_p.S3642C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3642					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCAGGAGTAGAGGTAGTTTC	0.532																																						ENST00000355193.2																			0											c.(10924-10926)tCt>tGt		lysine (K)-specific methyltransferase 2C							111.0	106.0	108.0					7																	151859737		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151859737G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10925C>G	7.37:g.151859737G>C	ENSP00000262189:p.Ser3642Cys					KMT2C_ENST00000262189.6_Missense_Mutation_p.S3642C	p.S3642C							43	11143	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.10925C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886043	0.51908	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.90563	-1.99;-1.92;-2.69	5.51	5.51	0.81932	.	0.000000	0.44902	D	0.000409	D	0.94971	0.8373	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.94982	0.8126	10	0.66056	D	0.02	.	19.4545	0.94882	0.0:0.0:1.0:0.0	.	3642;2703;3642	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	C	3642;3642;228	ENSP00000262189:S3642C;ENSP00000347325:S3642C;ENSP00000410411:S228C	ENSP00000262189:S3642C	S	-	2	0	MLL3	151490670	1.000000	0.71417	0.976000	0.42696	0.648000	0.38561	9.467000	0.97671	2.590000	0.87494	0.650000	0.86243	TCT		0.532	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			22	75	0	0	0	0.608945	0	22	75				
TGFBR2	7048	broad.mit.edu	37	3	30729917	30729917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:30729917G>A	ENST00000295754.5	+	6	1820	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E505K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAAGGTGCGGGAGCACCCCTG	0.507																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1438-1440)Gag>Aag		transforming growth factor, beta receptor II (70/80kDa)							126.0	118.0	121.0					3																	30729917		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30729917G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1438G>A	3.37:g.30729917G>A	ENSP00000295754:p.Glu480Lys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.E505K	p.E480K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			6	1820	+			480			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1438G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332121	0.95733	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93247	-3.19;-3.19	5.38	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	L	0.45698	1.435	0.80722	D	1	D;P	0.69078	0.997;0.955	D;D	0.73380	0.98;0.925	D	0.95119	0.8245	10	0.62326	D	0.03	.	14.2619	0.66090	0.0722:0.0:0.9278:0.0	.	480;505	P37173;D2JYI1	TGFR2_HUMAN;.	K	480;505;310	ENSP00000295754:E480K;ENSP00000351905:E505K	ENSP00000295754:E480K	E	+	1	0	TGFBR2	30704921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.833000	0.86765	1.404000	0.46819	0.591000	0.81541	GAG		0.507	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			15	68	0	0	0	0.457914	0	15	68				
CPNE9	151835	broad.mit.edu	37	3	9747714	9747714	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:9747714G>C	ENST00000383832.3	+	7	534	c.344G>C	c.(343-345)gGa>gCa	p.G115A	CPNE9_ENST00000383831.3_Missense_Mutation_p.G115A	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	115						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GAGGTGATTGGAGGCCAGGGC	0.587																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(343-345)gGa>gCa		copine family member IX							59.0	66.0	64.0					3																	9747714		2025	4195	6220	SO:0001583	missense	151835							g.chr3:9747714G>C		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.344G>C	3.37:g.9747714G>C	ENSP00000373343:p.Gly115Ala					CPNE9_ENST00000383831.3_Missense_Mutation_p.G115A	p.G115A	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			7	534	+	Medulloblastoma(99;0.227)		115					A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.344G>C	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026909	0.54683	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.38560	1.13;1.13	4.28	4.28	0.50868	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	M	0.64567	1.98	0.58432	D	0.999996	B	0.12013	0.005	B	0.21546	0.035	T	0.37641	-0.9697	10	0.32370	T	0.25	.	16.5434	0.84408	0.0:0.0:1.0:0.0	.	115	Q8IYJ1	CPNE9_HUMAN	A	115	ENSP00000373343:G115A;ENSP00000373342:G115A	ENSP00000373342:G115A	G	+	2	0	CPNE9	9722714	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.083000	0.94067	2.208000	0.71279	0.655000	0.94253	GGA		0.587	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		4	44	0	0	0	0.184627	0	4	44				
RASA2	5922	broad.mit.edu	37	3	141231006	141231006	+	Splice_Site	SNP	T	T	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:141231006T>A	ENST00000452898.1	+	2	170	c.135T>A	c.(133-135)tgT>tgA	p.C45*	RASA2_ENST00000286364.3_Splice_Site_p.C45*	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	45	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGCCAACAGGTGAAGCAAAAA	0.323																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.e2-1		RAS p21 protein activator 2							62.0	65.0	64.0					3																	141231006		2203	4299	6502	SO:0001630	splice_region_variant	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141231006T>A	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.134-1T>A	3.37:g.141231006T>A						RASA2_ENST00000452898.1_Splice_Site_p.C45_splice	p.C45_splice			Q15283	RASA2_HUMAN			2	170	+			45			C2 1.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Splice_Site	SNP	ENST00000452898.1	37	c.133_splice		.	.	.	.	.	.	.	.	.	.	T	25.7	4.663519	0.88251	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	.	.	.	5.37	4.22	0.49857	.	0.216872	0.38720	U	0.001594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	9.7555	0.40500	0.0:0.0827:0.0:0.9173	.	.	.	.	X	45	.	ENSP00000286364:C45X	C	+	3	2	RASA2	142713696	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.030000	0.49720	2.033000	0.60031	0.533000	0.62120	TGT		0.323	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506	Nonsense_Mutation	15	45	0	0	0	0.457914	0	15	45				
ITGA10	8515	broad.mit.edu	37	1	145538042	145538042	+	Silent	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:145538042C>A	ENST00000369304.3	+	22	2896	c.2721C>A	c.(2719-2721)gtC>gtA	p.V907V	ITGA10_ENST00000538811.1_Silent_p.V776V|ITGA10_ENST00000539363.1_Silent_p.V764V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	907					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAGCCAGGTCTTCGTGAAGC	0.527																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2719-2721)gtC>gtA		integrin, alpha 10							181.0	169.0	173.0					1																	145538042		2203	4300	6503	SO:0001819	synonymous_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145538042C>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2721C>A	1.37:g.145538042C>A						ITGA10_ENST00000538811.1_Silent_p.V776V|ITGA10_ENST00000539363.1_Silent_p.V764V	p.V907V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			22	2896	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		907					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	c.2721C>A	CCDS918.1																																																																																				0.527	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		54	174	1	0	1.38658e-30	0.870114	1.58686e-30	54	174				
KDM4B	23030	broad.mit.edu	37	19	5047507	5047507	+	Silent	SNP	C	C	T	rs567936662		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:5047507C>T	ENST00000159111.4	+	6	671	c.453C>T	c.(451-453)atC>atT	p.I151I	KDM4B_ENST00000381759.4_Silent_p.I151I|KDM4B_ENST00000536461.1_Silent_p.I151I|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	151	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGTGGAACATCGGGAGCCTCC	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16315	0.0		0.0	False		,,,				2504	0.0					ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(451-453)atC>atT		lysine (K)-specific demethylase 4B							51.0	48.0	49.0					19																	5047507		2203	4300	6503	SO:0001819	synonymous_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5047507C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.453C>T	19.37:g.5047507C>T						KDM4B_ENST00000381759.4_Silent_p.I151I|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Silent_p.I151I	p.I151I	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			6	671	+			151			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.453C>T	CCDS12138.1																																																																																				0.662	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		5	59	0	0	0	0.217242	0	5	59				
B4GALT7	11285	broad.mit.edu	37	5	177036573	177036573	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:177036573G>A	ENST00000029410.5	+	6	972	c.861G>A	c.(859-861)ctG>ctA	p.L287L	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	287					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGAGGCCTGAACACTGTGA	0.612																																						ENST00000029410.5																			0				endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7						c.(859-861)ctG>ctA		xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7							122.0	115.0	117.0					5																	177036573		2203	4300	6503	SO:0001819	synonymous_variant	11285				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity	g.chr5:177036573G>A	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.861G>A	5.37:g.177036573G>A							p.L287L	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	972	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	287					B3KN39|Q9UHN2	Silent	SNP	ENST00000029410.5	37	c.861G>A	CCDS4429.1																																																																																				0.612	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		23	125	0	0	0	0.624587	0	23	125				
CRKL	1399	broad.mit.edu	37	22	21304053	21304053	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:21304053G>A	ENST00000354336.3	+	3	1341	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	278	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GTGGGAAGGCGAAGTGAACGG	0.453																																					Pancreas(85;3 1441 23889 42519 42763)	ENST00000354336.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14						c.(832-834)Gaa>Aaa		v-crk avian sarcoma virus CT10 oncogene homolog-like							198.0	188.0	191.0					22																	21304053		2203	4300	6503	SO:0001583	missense	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21304053G>A		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.832G>A	22.37:g.21304053G>A	ENSP00000346300:p.Glu278Lys						p.E278K	NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		3	1341	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	278			SH3 2.		A8KA44|D3DX35	Missense_Mutation	SNP	ENST00000354336.3	37	c.832G>A	CCDS13785.1	.	.	.	.	.	.	.	.	.	.	G	36	5.903208	0.97087	.	.	ENSG00000099942	ENST00000354336	T	0.30714	1.52	5.31	5.31	0.75309	Src homology-3 domain (2);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.43757	1.38	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.43621	-0.9380	10	0.56958	D	0.05	.	16.4745	0.84128	0.0:0.0:1.0:0.0	.	278	P46109	CRKL_HUMAN	K	278	ENSP00000346300:E278K	ENSP00000346300:E278K	E	+	1	0	CRKL	19634053	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.869000	0.99810	2.485000	0.83878	0.591000	0.81541	GAA		0.453	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		18	218	0	0	0	0.520397	0	18	218				
NUTF2	10204	broad.mit.edu	37	16	67899106	67899106	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:67899106G>C	ENST00000219169.4	+	2	356	c.73G>C	c.(73-75)Gat>Cat	p.D25H	NUTF2_ENST00000569436.2_Missense_Mutation_p.D25H|NUTF2_ENST00000568396.2_Missense_Mutation_p.D25H	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	25	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		ATTTGATAATGATAGAACCCA	0.483																																						ENST00000219169.4																			0				kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(73-75)Gat>Cat		nuclear transport factor 2							78.0	68.0	71.0					16																	67899106		2198	4300	6498	SO:0001583	missense	10204				protein transport	cytosol|nuclear pore	protein binding|transporter activity	g.chr16:67899106G>C	U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.73G>C	16.37:g.67899106G>C	ENSP00000219169:p.Asp25His					NUTF2_ENST00000569436.2_Missense_Mutation_p.D25H|NUTF2_ENST00000568396.2_Missense_Mutation_p.D25H	p.D25H	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)	2	356	+		Ovarian(137;0.0563)	25			NTF2.		B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	c.73G>C	CCDS10848.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016725	0.93404	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.42	5.42	0.78866	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.047505	0.85682	D	0.000000	D	0.86339	0.5909	M	0.92219	3.285	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;P	0.97110	1.0;0.882	D	0.89215	0.3567	9	0.66056	D	0.02	-6.5573	18.0088	0.89217	0.0:0.0:1.0:0.0	.	25;25	B4DEQ2;P61970	.;NTF2_HUMAN	H	25	.	ENSP00000219169:D25H	D	+	1	0	NUTF2	66456607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.992000	0.70609	2.557000	0.86248	0.555000	0.69702	GAT		0.483	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1			5	36	0	0	0	0.217242	0	5	36				
AHNAK2	113146	broad.mit.edu	37	14	105412495	105412495	+	Missense_Mutation	SNP	G	G	A	rs374657511		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:105412495G>A	ENST00000333244.5	-	7	9412	c.9293C>T	c.(9292-9294)aCg>aTg	p.T3098M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3098						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGGGGCCGTCACGTCCGT	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9292-9294)aCg>aTg		AHNAK nucleoprotein 2							117.0	112.0	113.0					14																	105412495		1912	4100	6012	SO:0001583	missense	113146					nucleus		g.chr14:105412495G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9293C>T	14.37:g.105412495G>A	ENSP00000353114:p.Thr3098Met					AHNAK2_ENST00000557457.1_Intron	p.T3098M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9412	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3098					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9293C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	4.172	0.030391	0.08101	.	.	ENSG00000185567	ENST00000333244	T	0.00753	5.74	3.5	0.422	0.16457	.	.	.	.	.	T	0.00608	0.0020	L	0.42744	1.35	0.09310	N	1	P	0.40000	0.698	B	0.25614	0.062	T	0.49560	-0.8927	9	0.48119	T	0.1	.	2.4815	0.04588	0.2023:0.3768:0.3061:0.1148	.	3098	Q8IVF2	AHNK2_HUMAN	M	3098	ENSP00000353114:T3098M	ENSP00000353114:T3098M	T	-	2	0	AHNAK2	104483540	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.342000	0.00505	0.101000	0.17610	-0.642000	0.03964	ACG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		40	236	0	0	0	0.870114	0	40	236				
MTTP	4547	broad.mit.edu	37	4	100532392	100532392	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:100532392T>C	ENST00000265517.5	+	13	2065	c.1862T>C	c.(1861-1863)aTa>aCa	p.I621T	MTTP_ENST00000457717.1_Missense_Mutation_p.I621T|MTTP_ENST00000511045.1_Missense_Mutation_p.I648T|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	621	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	ACTGGCTACATAGAACGTATG	0.433																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(1861-1863)aTa>aCa		microsomal triglyceride transfer protein	Hesperetin(DB01094)						169.0	156.0	160.0					4																	100532392		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532392T>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1862T>C	4.37:g.100532392T>C	ENSP00000265517:p.Ile621Thr					MTTP_ENST00000265517.5_Missense_Mutation_p.I621T|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.I648T	p.I621T	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	14	2118	+			621			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.1862T>C	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811160	0.50527	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.61859	0.07;0.08;0.08	5.84	5.84	0.93424	Lipid transport protein, N-terminal (1);	0.462143	0.28114	N	0.016549	T	0.53174	0.1780	L	0.51422	1.61	0.39509	D	0.968327	B;B	0.27559	0.072;0.181	B;B	0.21708	0.023;0.036	T	0.52749	-0.8534	10	0.40728	T	0.16	-16.2574	16.2167	0.82231	0.0:0.0:0.0:1.0	.	648;621	E9PBP6;P55157	.;MTP_HUMAN	T	648;621;621	ENSP00000427679:I648T;ENSP00000400821:I621T;ENSP00000265517:I621T	ENSP00000265517:I621T	I	+	2	0	MTTP	100751415	1.000000	0.71417	0.998000	0.56505	0.680000	0.39746	6.742000	0.74843	2.231000	0.72958	0.533000	0.62120	ATA		0.433	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			15	89	0	0	0	0.500413	0	15	89				
RALGPS1	9649	broad.mit.edu	37	9	129937010	129937010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:129937010G>A	ENST00000259351.5	+	11	1126	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	RALGPS1_ENST00000373436.1_Missense_Mutation_p.E287K|RALGPS1_ENST00000373434.1_Missense_Mutation_p.E287K|RALGPS1_ENST00000394022.3_Missense_Mutation_p.E287K|RALGPS1_ENST00000424082.2_Missense_Mutation_p.E287K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	287	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCAGAATCGAACCAGGAAG	0.463																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(859-861)Gaa>Aaa		Ral GEF with PH domain and SH3 binding motif 1							160.0	145.0	150.0					9																	129937010		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129937010G>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.859G>A	9.37:g.129937010G>A	ENSP00000259351:p.Glu287Lys					RALGPS1_ENST00000394022.3_Missense_Mutation_p.E287K|RALGPS1_ENST00000373436.1_Missense_Mutation_p.E287K|RALGPS1_ENST00000424082.2_Missense_Mutation_p.E287K|RALGPS1_ENST00000373434.1_Missense_Mutation_p.E287K	p.E287K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			11	1126	+			287			Ras-GEF.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.859G>A	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403391	0.96051	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373436;ENST00000373434	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.23	5.23	0.72850	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.998;0.999;1.0	D	0.84829	0.0801	10	0.87932	D	0	.	17.9805	0.89139	0.0:0.0:1.0:0.0	.	287;287;287;287	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	K	287	ENSP00000259351:E287K;ENSP00000415630:E287K;ENSP00000377590:E287K;ENSP00000362535:E287K;ENSP00000362533:E287K	ENSP00000259351:E287K	E	+	1	0	RALGPS1	128976831	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.613000	0.90913	2.716000	0.92895	0.655000	0.94253	GAA		0.463	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		14	190	0	0	0	0.435327	0	14	190				
FSCN3	29999	broad.mit.edu	37	7	127235925	127235925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:127235925C>T	ENST00000265825.5	+	2	928	c.709C>T	c.(709-711)Cca>Tca	p.P237S	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.P103S	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	237						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CATGTTATATCCACAGGGCAC	0.582																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(709-711)Cca>Tca		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							135.0	108.0	117.0					7																	127235925		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235925C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.709C>T	7.37:g.127235925C>T	ENSP00000265825:p.Pro237Ser					FSCN3_ENST00000420086.2_Missense_Mutation_p.P103S	p.P237S	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	928	+			237					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.709C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179965	0.38511	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.56776	1.33;0.44	5.44	3.6	0.41247	Actin cross-linking (1);	0.192843	0.37348	N	0.002135	T	0.47192	0.1432	M	0.64997	1.995	0.41927	D	0.990544	P;P	0.36222	0.544;0.518	B;B	0.33339	0.162;0.115	T	0.40346	-0.9568	10	0.29301	T	0.29	-9.9759	12.7728	0.57432	0.0:0.6473:0.3527:0.0	.	103;237	B4DU68;Q9NQT6	.;FSCN3_HUMAN	S	237;103	ENSP00000265825:P237S;ENSP00000412243:P103S	ENSP00000265825:P237S	P	+	1	0	FSCN3	127023161	0.985000	0.35326	0.983000	0.44433	0.863000	0.49368	3.263000	0.51546	0.737000	0.32582	-0.172000	0.13284	CCA		0.582	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		29	86	0	0	0	0.693898	0	29	86				
HCAR3	8843	broad.mit.edu	37	12	123200775	123200775	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:123200775C>G	ENST00000528880.2	-	1	664	c.510G>C	c.(508-510)caG>caC	p.Q170H	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	170					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	CAGTGCCATTCTGGATCAGCA	0.522																																						ENST00000528880.2																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(508-510)caG>caC		hydroxycarboxylic acid receptor 3	Mepenzolate(DB04843)|Niacin(DB00627)						102.0	96.0	98.0					12																	123200775		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200775C>G	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.510G>C	12.37:g.123200775C>G	ENSP00000436714:p.Gln170His					HCAR1_ENST00000356987.2_Intron	p.Q170H	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN			1	664	-			170					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.510G>C	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	C	0.323	-0.960855	0.02249	.	.	ENSG00000255398	ENST00000528880	T	0.72942	-0.7	3.41	-4.44	0.03557	.	.	.	.	.	T	0.45094	0.1325	N	0.11255	0.115	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.25012	-1.0144	9	0.41790	T	0.15	.	6.3419	0.21327	0.0:0.3834:0.4122:0.2044	.	170	E9PI97	.	H	170	ENSP00000436714:Q170H	ENSP00000436714:Q170H	Q	-	3	2	HCAR3	121766728	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-1.712000	0.01885	-0.717000	0.04955	0.184000	0.17185	CAG		0.522	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		12	70	0	0	0	0.387290	0	12	70				
TINF2	26277	broad.mit.edu	37	14	24711353	24711353	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:24711353C>T	ENST00000267415.7	-	1	527	c.186G>A	c.(184-186)aaG>aaA	p.K62K	TINF2_ENST00000540705.1_Silent_p.K62K|TINF2_ENST00000399423.4_Silent_p.K62K|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000558566.1_Silent_p.K62K|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000559019.1_Silent_p.K62K	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	62					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		ATACCTTGGCCTTTAGGCCCA	0.562									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome		OREG0022621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399423.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(184-186)aaG>aaA		TERF1 (TRF1)-interacting nuclear factor 2							55.0	60.0	59.0					14																	24711353		1987	4180	6167	SO:0001819	synonymous_variant	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24711353C>T	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.186G>A	14.37:g.24711353C>T			OREG0022621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	TINF2_ENST00000267415.7_Silent_p.K62K|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000540705.1_Silent_p.K62K|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000559019.1_Silent_p.K62K|TINF2_ENST00000558566.1_Silent_p.K62K	p.K62K	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	1	516	-			62					B3W5Q7|Q9H904|Q9UHC2	Silent	SNP	ENST00000267415.7	37	c.186G>A	CCDS41936.1																																																																																				0.562	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			21	88	0	0	0	0.592651	0	21	88				
DGKZ	8525	broad.mit.edu	37	11	46389294	46389294	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:46389294G>A	ENST00000454345.1	+	4	1055	c.930G>A	c.(928-930)atG>atA	p.M310I	DGKZ_ENST00000318201.8_Missense_Mutation_p.M121I|DGKZ_ENST00000532868.2_Missense_Mutation_p.M125I|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Missense_Mutation_p.M87I|DGKZ_ENST00000456247.2_Missense_Mutation_p.M121I|DGKZ_ENST00000343674.6_Missense_Mutation_p.M138I|DGKZ_ENST00000527911.1_Missense_Mutation_p.M121I|DGKZ_ENST00000421244.2_Missense_Mutation_p.M121I	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	310					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TAGCCAGGATGCTGGTGAGTG	0.642											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(928-930)atG>atA		diacylglycerol kinase, zeta							104.0	86.0	92.0					11																	46389294		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46389294G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.930G>A	11.37:g.46389294G>A	ENSP00000412178:p.Met310Ile		OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	DGKZ_ENST00000527911.1_Missense_Mutation_p.M121I|DGKZ_ENST00000456247.2_Missense_Mutation_p.M121I|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.M121I|DGKZ_ENST00000395574.3_Missense_Mutation_p.M87I|DGKZ_ENST00000532868.2_Missense_Mutation_p.M125I|DGKZ_ENST00000343674.6_Missense_Mutation_p.M138I|DGKZ_ENST00000318201.8_Missense_Mutation_p.M121I|DGKZ_ENST00000528615.1_Intron	p.M310I	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	4	1055	+			310					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.930G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692571	0.30052	.	.	ENSG00000149091	ENST00000343674;ENST00000525242;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	D;T;T;T;D;T;T;T;T	0.83591	-1.74;2.77;2.82;3.76;-1.74;2.65;2.77;1.92;3.04	5.16	5.16	0.70880	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.346611	0.37437	N	0.002090	T	0.74642	0.3743	N	0.14661	0.345	0.28724	N	0.902884	B;B;B;B;B;B;B;B;P;B	0.51933	0.004;0.054;0.004;0.001;0.002;0.001;0.001;0.053;0.949;0.001	B;B;B;B;B;B;B;B;P;B	0.51229	0.005;0.021;0.005;0.002;0.002;0.005;0.005;0.015;0.663;0.004	T	0.66622	-0.5877	10	0.16896	T	0.51	.	11.1665	0.48545	0.0:0.1372:0.7206:0.1422	.	121;86;87;121;310;121;121;87;87;138	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	I	138;1;87;86;121;121;121;121;310;31	ENSP00000343065:M138I;ENSP00000378941:M87I;ENSP00000436273:M86I;ENSP00000436291:M121I;ENSP00000395684:M121I;ENSP00000391021:M121I;ENSP00000320340:M121I;ENSP00000412178:M310I;ENSP00000435763:M31I	ENSP00000320340:M121I	M	+	3	0	DGKZ	46345870	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.301000	0.33447	2.588000	0.87417	0.555000	0.69702	ATG		0.642	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		7	18	0	0	0	0.278610	0	7	18				
INPP5B	3633	broad.mit.edu	37	1	38352663	38352663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:38352663C>T	ENST00000373026.1	-	11	1268	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	INPP5B_ENST00000458109.2_Missense_Mutation_p.R106Q|INPP5B_ENST00000373027.1_Missense_Mutation_p.R179Q|INPP5B_ENST00000373023.2_Missense_Mutation_p.R423Q|INPP5B_ENST00000467066.1_5'UTR|SNORA63_ENST00000516639.1_RNA|INPP5B_ENST00000373024.3_Missense_Mutation_p.R343Q|RNU6-584P_ENST00000410350.1_RNA			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	423	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCAACCAGTCGGATAAGCTT	0.453																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(1267-1269)cGa>cAa		inositol polyphosphate-5-phosphatase, 75kDa							104.0	100.0	102.0					1																	38352663		1897	4127	6024	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38352663C>T	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1268G>A	1.37:g.38352663C>T	ENSP00000362117:p.Arg423Gln					INPP5B_ENST00000373024.3_Missense_Mutation_p.R343Q|INPP5B_ENST00000373026.1_Missense_Mutation_p.R423Q|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000458109.2_Missense_Mutation_p.R106Q|INPP5B_ENST00000373027.1_Missense_Mutation_p.R179Q	p.R423Q	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			12	1361	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	423					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.1268G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.248761	0.95305	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59	5.47	5.47	0.80525	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.94548	0.8244	N	0.13168	0.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95231	0.8342	10	0.48119	T	0.1	.	19.3388	0.94332	0.0:1.0:0.0:0.0	.	423;343	P32019;P32019-2	I5P2_HUMAN;.	Q	179;423;423;423;343;106	ENSP00000362118:R179Q;ENSP00000362114:R423Q;ENSP00000362117:R423Q;ENSP00000362115:R343Q;ENSP00000397748:R106Q	ENSP00000362114:R423Q	R	-	2	0	INPP5B	38125250	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	7.818000	0.86416	2.553000	0.86117	0.655000	0.94253	CGA		0.453	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		8	77	0	0	0	0.335167	0	8	77				
PRKG2	5593	broad.mit.edu	37	4	82056396	82056396	+	Silent	SNP	T	T	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:82056396T>A	ENST00000395578.1	-	14	1805	c.1689A>T	c.(1687-1689)gcA>gcT	p.A563A	PRKG2_ENST00000418486.2_Silent_p.A534A|PRKG2_ENST00000545647.1_Silent_p.A143A|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.A563A			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GGTAATCAAATGCTTCTGTCA	0.388																																						ENST00000395578.1																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1687-1689)gcA>gcT		protein kinase, cGMP-dependent, type II							139.0	133.0	135.0					4																	82056396		2203	4300	6503	SO:0001819	synonymous_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82056396T>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1689A>T	4.37:g.82056396T>A						PRKG2_ENST00000264399.1_Silent_p.A563A|PRKG2_ENST00000418486.2_Silent_p.A534A|PRKG2_ENST00000545647.1_Silent_p.A143A|PRKG2_ENST00000509169.1_5'UTR	p.A563A			Q13237	KGP2_HUMAN			14	1805	-			563			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	c.1689A>T	CCDS3589.1																																																																																				0.388	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		12	61	0	0	0	0.435327	0	12	61				
MAP3K19	80122	broad.mit.edu	37	2	135756548	135756548	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:135756548G>C	ENST00000375845.3	-	5	364	c.334C>G	c.(334-336)Caa>Gaa	p.Q112E	MAP3K19_ENST00000392917.3_Missense_Mutation_p.Q112E|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.Q112E|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q129E|MAP3K19_ENST00000392918.3_Missense_Mutation_p.Q112E	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	112							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GCCCATTCTTGAAGCGATGAG	0.443																																						ENST00000375845.3																			0											c.(334-336)Caa>Gaa		mitogen-activated protein kinase kinase kinase 19							100.0	99.0	99.0					2																	135756548		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135756548G>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.334C>G	2.37:g.135756548G>C	ENSP00000365005:p.Gln112Glu					MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q129E|MAP3K19_ENST00000392917.3_Missense_Mutation_p.Q112E|MAP3K19_ENST00000375844.3_Missense_Mutation_p.Q112E|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.Q112E	p.Q112E	NM_025052.3	NP_079328.3					5	364	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.334C>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410833	0.25465	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952	T;T;T;T;T	0.71934	-0.6;-0.58;-0.61;-0.53;1.76	5.25	2.21	0.28008	.	1.926650	0.03010	N	0.149293	T	0.60983	0.2311	L	0.54323	1.7	0.09310	N	0.999996	B;P;B;P;B;B	0.40794	0.039;0.729;0.065;0.729;0.065;0.435	B;B;B;B;B;B	0.35770	0.025;0.21;0.056;0.21;0.056;0.078	T	0.48990	-0.8985	10	0.02654	T	1	.	7.9298	0.29895	0.0:0.3029:0.5147:0.1825	.	112;112;112;129;112;112	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	E	112;112;112;112;129;84	ENSP00000365005:Q112E;ENSP00000365004:Q112E;ENSP00000376650:Q112E;ENSP00000376649:Q112E;ENSP00000376647:Q129E	ENSP00000365004:Q112E	Q	-	1	0	YSK4	135473018	0.000000	0.05858	0.003000	0.11579	0.057000	0.15508	0.396000	0.20867	0.781000	0.33589	0.650000	0.86243	CAA		0.443	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		9	61	0	0	0	0.307466	0	9	61				
CDKN2A	1029	broad.mit.edu	37	9	21970901	21970901	+	Splice_Site	SNP	C	C	T	rs45476696		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:21970901C>T	ENST00000304494.5	-	2	727	c.457G>A	c.(457-459)Gac>Aac	p.D153N	CDKN2A_ENST00000578845.2_Splice_Site_p.D102N|CDKN2A_ENST00000446177.1_Splice_Site_p.E153K|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000497750.1_Missense_Mutation_p.G102S|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000479692.2_Splice_Site_p.V102I|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000498124.1_Splice_Site_p.E153K|CDKN2A_ENST00000494262.1_Splice_Site_p.D102N|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site_p.D102N|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	153					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|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 cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(16)|p.D153N(1)|p.0(1)|p.E153K(1)|p.D153Y(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTCCTCACCTGAGGGACCT	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000497750.1		17																	1335	Whole gene deletion(1316)|Unknown(16)|Substitution - Missense(3)	p.0?(1315)|p.?(16)|p.D153N(1)|p.0(1)|p.E153K(1)|p.D153Y(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|breast(31)|kidney(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CS972842	CDKN2A	S	rs45476696	c.(304-306)Ggt>Agt		cyclin-dependent kinase inhibitor 2A							34.0	35.0	34.0					9																	21970901		2203	4300	6503	SO:0001630	splice_region_variant	1029				cell cycle arrest|cell cycle checkpoint|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|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21970901C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.457+1G>A	9.37:g.21970901C>T		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Splice_Site_p.E153_splice|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_Splice_Site_p.E153_splice|CDKN2A_ENST00000578845.2_Splice_Site_p.D102_splice|CDKN2A_ENST00000494262.1_Splice_Site_p.D102_splice|CDKN2A_ENST00000304494.5_Splice_Site_p.D153_splice|CDKN2A_ENST00000479692.2_Splice_Site_p.V102_splice|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site_p.D102_splice|CDKN2A_ENST00000579122.1_Intron	p.G102S			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	378	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.304G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.26|10.26	1.301003|1.301003	0.23650|0.23650	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494|ENST00000446177	T|T	0.78126|0.76578	-1.15|-1.03	4.21|4.21	3.31|3.31	0.37934|0.37934	.|.	.|.	.|.	.|.	.|.	T|T	0.75140|0.75140	0.3809|0.3809	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	B|.	0.13594|.	0.008|.	B|.	0.12156|.	0.007|.	T|T	0.74266|0.74266	-0.3721|-0.3721	9|7	0.66056|0.48119	D|T	0.02|0.1	.|.	9.7139|9.7139	0.40263|0.40263	0.2066:0.7934:0.0:0.0|0.2066:0.7934:0.0:0.0	rs45476696|rs45476696	153|.	P42771|.	CD2A1_HUMAN|.	N|K	153|153	ENSP00000307101:D153N|ENSP00000394932:E153K	ENSP00000307101:D153N|ENSP00000394932:E153K	D|E	-|-	1|1	0|0	CDKN2A|CDKN2A	21960901|21960901	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.015000|0.015000	0.08874|0.08874	3.892000|3.892000	0.56235|0.56235	1.376000|1.376000	0.46267|0.46267	-0.122000|-0.122000	0.15005|0.15005	GAC|GAA		0.597	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Missense_Mutation	8	40	0	0	0	0.307466	0	8	40				
UBR5	51366	broad.mit.edu	37	8	103291308	103291308	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:103291308G>A	ENST00000520539.1	-	43	6736	c.6130C>T	c.(6130-6132)Ctg>Ttg	p.L2044L	UBR5_ENST00000220959.4_Silent_p.L2044L|UBR5_ENST00000521922.1_Silent_p.L2038L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2044	Pro-rich.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTTCAGCCAGAGGCACTTCA	0.433																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6130-6132)Ctg>Ttg		ubiquitin protein ligase E3 component n-recognin 5							93.0	92.0	93.0					8																	103291308		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103291308G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6130C>T	8.37:g.103291308G>A						UBR5_ENST00000220959.4_Silent_p.L2044L|UBR5_ENST00000521922.1_Silent_p.L2038L	p.L2044L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		43	6736	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2044			Pro-rich.		B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.6130C>T	CCDS34933.1																																																																																				0.433	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		7	106	0	0	0	0.248553	0	7	106				
MFSD3	113655	broad.mit.edu	37	8	145737627	145737627	+	IGR	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:145737627C>G	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Missense_Mutation_p.E1046Q	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCCTTCTCCTCAGCGGTCAAG	0.637																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(3136-3138)Gag>Cag	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							34.0	38.0	37.0					8																	145737627		2047	4202	6249	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737627C>G		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737627C>G						RECQL4_ENST00000532237.1_5'UTR	p.E1046Q	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		19	3177	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1046						Missense_Mutation	SNP	ENST00000301327.4	37	c.3136G>C	CCDS6431.1																																																																																				0.637	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		10	42	0	0	0	0.335167	0	10	42				
ASB18	401036	broad.mit.edu	37	2	237150090	237150090	+	Intron	SNP	C	C	T	rs144206102	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:237150090C>T	ENST00000409749.3	-	2	205				ASB18_ENST00000330842.6_Missense_Mutation_p.R25K|AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GGACCCTGCTCTAGCTTGAGG	0.537																																						ENST00000330842.6																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(73-75)aGa>aAa		ankyrin repeat and SOCS box containing 18							41.0	41.0	41.0					2																	237150090		1925	4138	6063	SO:0001627	intron_variant	401036				intracellular signal transduction			g.chr2:237150090C>T	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.206-45G>A	2.37:g.237150090C>T						ASB18_ENST00000409749.3_Intron|AC079135.1_ENST00000415226.1_RNA	p.R25K			Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	168	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	0					B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	c.74G>A	CCDS46548.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.291153	0.00248	.	.	ENSG00000182177	ENST00000330842	T	0.36878	1.23	4.76	-0.634	0.11516	.	0.972438	0.08400	N	0.951633	T	0.19927	0.0479	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28038	-1.0056	8	.	.	.	.	5.6809	0.17776	0.1124:0.1996:0.5386:0.1494	.	25	Q6ZVZ8-2	.	K	25	ENSP00000329970:R25K	.	R	-	2	0	ASB18	236814829	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.489000	0.06490	-0.128000	0.11641	-0.764000	0.03450	AGA		0.537	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		3	25	0	0	0	0.115264	0	3	25				
ZNF518A	9849	broad.mit.edu	37	10	97920007	97920007	+	RNA	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr10:97920007G>A	ENST00000534948.1	+	0	4785							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGATGTCCGTGAAACATTTGG	0.388																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							53.0	52.0	52.0					10																	97920007		1849	4088	5937			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97920007G>A	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97920007G>A										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	4785	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.388	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		5	48	0	0	0	0.217242	0	5	48				
MAP3K7	6885	broad.mit.edu	37	6	91226264	91226264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:91226264C>T	ENST00000369329.3	-	17	1938	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E566K|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E247K	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	593					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.E566K(1)|p.E593K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGATGACCTCTAGTTGTTTT	0.378																																						ENST00000369329.3																			2	Substitution - Missense(2)	p.E566K(1)|p.E593K(1)	lung(2)	endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(1777-1779)Gag>Aag		mitogen-activated protein kinase kinase kinase 7							143.0	140.0	141.0					6																	91226264		2203	4299	6502	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91226264C>T	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1777G>A	6.37:g.91226264C>T	ENSP00000358335:p.Glu593Lys					MAP3K7_ENST00000369332.3_Missense_Mutation_p.E566K|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E247K|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_3'UTR	p.E593K	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	17	1938	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	593					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.1777G>A	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729229	0.69074	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369320	T;T	0.79749	-1.27;-1.3	5.4	5.4	0.78164	.	0.090906	0.85682	D	0.000000	T	0.71091	0.3299	L	0.57536	1.79	0.80722	D	1	P;B	0.40731	0.728;0.034	B;B	0.32980	0.156;0.01	T	0.78175	-0.2306	10	0.72032	D	0.01	.	19.5343	0.95242	0.0:1.0:0.0:0.0	.	566;593	O43318-2;O43318	.;M3K7_HUMAN	K	566;593;247	ENSP00000358338:E566K;ENSP00000358335:E593K	ENSP00000358326:E247K	E	-	1	0	MAP3K7	91282985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.849000	0.62882	2.684000	0.91462	0.650000	0.86243	GAG		0.378	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		19	95	0	0	0	0.624587	0	19	95				
ZNF750	79755	broad.mit.edu	37	17	80788944	80788944	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:80788944C>G	ENST00000269394.3	-	2	2220	c.1387G>C	c.(1387-1389)Gaa>Caa	p.E463Q	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.E64Q|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	463					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGTAGGCATTCTGTGCTTTTC	0.522																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1387-1389)Gaa>Caa		zinc finger protein 750							109.0	107.0	108.0					17																	80788944		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80788944C>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1387G>C	17.37:g.80788944C>G	ENSP00000269394:p.Glu463Gln					TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.E64Q	p.E463Q	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	2220	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	463					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.1387G>C	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086090	0.36855	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.13657	2.57	4.58	3.61	0.41365	.	0.198975	0.34652	N	0.003798	T	0.19927	0.0479	M	0.62723	1.935	0.09310	N	1	P	0.44429	0.835	P	0.46208	0.507	T	0.04320	-1.0960	9	.	.	.	-15.8003	11.5452	0.50690	0.0:0.9122:0.0:0.0878	.	463	Q32MQ0	ZN750_HUMAN	Q	463;64	ENSP00000269394:E463Q	.	E	-	1	0	ZNF750	78382233	0.504000	0.26123	0.001000	0.08648	0.002000	0.02628	3.671000	0.54576	1.060000	0.40578	0.563000	0.77884	GAA		0.522	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		29	216	0	0	0	0.706142	0	29	216				
DNAJC6	9829	broad.mit.edu	37	1	65845131	65845131	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:65845131A>G	ENST00000395325.3	+	5	576	c.419A>G	c.(418-420)aAc>aGc	p.N140S	DNAJC6_ENST00000371069.4_Missense_Mutation_p.N197S|DNAJC6_ENST00000263441.7_Missense_Mutation_p.N127S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	140	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGTCTGCACAACCTTTTTGCT	0.453																																						ENST00000395325.3																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						c.(418-420)aAc>aGc		DnaJ (Hsp40) homolog, subfamily C, member 6							192.0	181.0	185.0					1																	65845131		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65845131A>G	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.419A>G	1.37:g.65845131A>G	ENSP00000378735:p.Asn140Ser					DNAJC6_ENST00000263441.7_Missense_Mutation_p.N127S|DNAJC6_ENST00000371069.4_Missense_Mutation_p.N197S	p.N140S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			5	576	+			140			Phosphatase tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.419A>G	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913140	0.72983	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98437	-4.93;-4.93;-4.93	5.41	5.41	0.78517	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.89312	0.6679	N	0.08118	0	0.80722	D	1	B;B;B	0.30634	0.103;0.062;0.288	B;B;B	0.22152	0.038;0.01;0.031	D	0.89895	0.4040	10	0.11182	T	0.66	.	15.6124	0.76737	1.0:0.0:0.0:0.0	.	197;140;127	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	S	127;140;197	ENSP00000263441:N127S;ENSP00000378735:N140S;ENSP00000360108:N197S	ENSP00000263441:N127S	N	+	2	0	DNAJC6	65617719	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.761000	0.91691	2.272000	0.75746	0.459000	0.35465	AAC		0.453	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			8	137	0	0	0	0.278610	0	8	137				
SYT2	127833	broad.mit.edu	37	1	202569513	202569513	+	Silent	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:202569513G>C	ENST00000367267.1	-	7	1083	c.891C>G	c.(889-891)ctC>ctG	p.L297L	SYT2_ENST00000367268.4_Silent_p.L297L	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	297	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCATCTTCTTGAGGTTCTTAG	0.617											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367267.1																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(889-891)ctC>ctG		synaptotagmin II	Botulinum Toxin Type B(DB00042)						90.0	89.0	89.0					1																	202569513		2203	4300	6503	SO:0001819	synonymous_variant	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202569513G>C	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.891C>G	1.37:g.202569513G>C			OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2130	SYT2_ENST00000367268.4_Silent_p.L297L	p.L297L	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		7	1083	-			297			C2 2.|Phospholipid binding (By similarity).		Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	c.891C>G	CCDS1427.1																																																																																				0.617	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		12	121	0	0	0	0.411799	0	12	121				
CDKN2A	1029	broad.mit.edu	37	9	21970900	21970900	+	Splice_Site	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:21970900C>T	ENST00000304494.5	-	2	728		c.e2+1		CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000497750.1_Missense_Mutation_p.G102D|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|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 cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(12)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCAGTCCTCACCTGAGGGACC	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000497750.1		17																	1328	Whole gene deletion(1316)|Unknown(12)	p.0?(1315)|p.?(12)|p.0(1)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(45)|ovary(33)|breast(31)|kidney(29)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CS041518|CS941435	CDKN2A	S		c.(304-306)gGt>gAt		cyclin-dependent kinase inhibitor 2A							34.0	35.0	34.0					9																	21970900		2203	4300	6503	SO:0001630	splice_region_variant	1029				cell cycle arrest|cell cycle checkpoint|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|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21970900C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.457+1G>A	9.37:g.21970900C>T		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000579122.1_Intron	p.G102D			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	379	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.305G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	8.051	0.765979	0.15983	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3509	0.55146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21960900	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	1.477000	0.35431	2.630000	0.89119	0.655000	0.94253	.		0.597	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Intron	8	40	0	0	0	0.307466	0	8	40				
INTS4L1	285905	broad.mit.edu	37	7	64643382	64643382	+	RNA	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:64643382C>T	ENST00000587624.1	+	0	789							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		AGAGGCTCTTCATGAACTCTT	0.383																																						ENST00000587624.1																			0																																																			285905							g.chr7:64643382C>T			7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64643382C>T														0	789	+									RNA	SNP	ENST00000587624.1	37																																																																																						0.383	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	pseudogene	OTTHUMT00000460821.1	XR_041315		21	24	0	0	0	0.654019	0	21	24				
SOGA1	140710	broad.mit.edu	37	20	35443718	35443718	+	Silent	SNP	G	G	C	rs367609865		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr20:35443718G>C	ENST00000357779.3	-	5	1739	c.1413C>G	c.(1411-1413)ctC>ctG	p.L471L	SOGA1_ENST00000456801.2_Silent_p.L312L|SOGA1_ENST00000279034.6_Silent_p.L471L|SOGA1_ENST00000237536.4_Silent_p.L709L			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	471					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.L709L(3)|p.L471L(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGCATGGATGAGCTTGGTGT	0.637																																						ENST00000237536.4																			4	Substitution - coding silent(4)	p.L709L(3)|p.L471L(1)	lung(4)	endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2125-2127)ctC>ctG		suppressor of glucose, autophagy associated 1							44.0	49.0	47.0					20																	35443718		2203	4300	6503	SO:0001819	synonymous_variant	140710							g.chr20:35443718G>C	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1413C>G	20.37:g.35443718G>C						SOGA1_ENST00000357779.3_Silent_p.L471L|SOGA1_ENST00000279034.5_Silent_p.L471L|SOGA1_ENST00000456801.2_Silent_p.L312L	p.L709L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2468	-			471					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.2127C>G																																																																																					0.637	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		24	46	0	0	0	0.624587	0	24	46				
ZBTB43	23099	broad.mit.edu	37	9	129595320	129595320	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:129595320G>C	ENST00000373464.4	+	3	796	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	ZBTB43_ENST00000449886.1_Missense_Mutation_p.E178Q|ZBTB43_ENST00000373457.1_Missense_Mutation_p.E178Q	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	178					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(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGAAAATGAAGAGGAGAGCAC	0.532																																						ENST00000373464.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(532-534)Gag>Cag		zinc finger and BTB domain containing 43							41.0	44.0	43.0					9																	129595320		2203	4300	6503	SO:0001583	missense	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595320G>C	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.532G>C	9.37:g.129595320G>C	ENSP00000362563:p.Glu178Gln					ZBTB43_ENST00000373457.1_Missense_Mutation_p.E178Q|ZBTB43_ENST00000449886.1_Missense_Mutation_p.E178Q	p.E178Q	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN			3	796	+			178					Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	c.532G>C	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460877	0.43736	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000450858;ENST00000373457	T;T;T;T	0.59224	2.55;2.55;0.28;2.55	5.61	5.61	0.85477	.	0.079393	0.52532	D	0.000070	T	0.45034	0.1322	N	0.24115	0.695	0.40447	D	0.980108	P	0.50943	0.94	B	0.38378	0.272	T	0.44877	-0.9299	10	0.33940	T	0.23	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	178	O43298	ZBT43_HUMAN	Q	178	ENSP00000390344:E178Q;ENSP00000362563:E178Q;ENSP00000412145:E178Q;ENSP00000362556:E178Q	ENSP00000362556:E178Q	E	+	1	0	ZBTB43	128635141	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.347000	0.59373	2.809000	0.96659	0.555000	0.69702	GAG		0.532	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		7	64	0	0	0	0.248553	0	7	64				
OR8B4	283162	broad.mit.edu	37	11	124294096	124294096	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:124294096G>C	ENST00000356130.3	-	1	693	c.672C>G	c.(670-672)atC>atG	p.I224M		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GAATACAGAGGATGTTGGAGA	0.458																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(670-672)atC>atG		olfactory receptor, family 8, subfamily B, member 4							82.0	74.0	77.0					11																	124294096		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294096G>C	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.672C>G	11.37:g.124294096G>C	ENSP00000348449:p.Ile224Met						p.I224M	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	693	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	224					B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.672C>G	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	11.32	1.603285	0.28534	.	.	ENSG00000198657	ENST00000356130	T	0.00274	8.35	4.14	-0.533	0.11887	GPCR, rhodopsin-like superfamily (1);	0.120679	0.37136	N	0.002229	T	0.00608	0.0020	M	0.93594	3.435	0.09310	N	1	D	0.64830	0.994	D	0.73708	0.981	T	0.51052	-0.8754	10	0.87932	D	0	.	1.9027	0.03271	0.5063:0.1425:0.2066:0.1446	.	224	Q96RC9	OR8B4_HUMAN	M	224	ENSP00000348449:I224M	ENSP00000348449:I224M	I	-	3	3	OR8B4	123799306	0.005000	0.15991	0.923000	0.36655	0.575000	0.36095	-0.270000	0.08584	-0.069000	0.12931	0.655000	0.94253	ATC		0.458	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		4	38	0	0	0	0.150653	0	4	38				
FAT4	79633	broad.mit.edu	37	4	126238826	126238826	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:126238826C>G	ENST00000394329.3	+	1	1273	c.1260C>G	c.(1258-1260)atC>atG	p.I420M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	420	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGCCTAATCAAGGTGGCCA	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(1258-1260)atC>atG		FAT atypical cadherin 4							35.0	38.0	37.0					4																	126238826		2034	4196	6230	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238826C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1260C>G	4.37:g.126238826C>G	ENSP00000377862:p.Ile420Met		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.I420M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	1273	+			420			Cadherin 4.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1260C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319640	0.41096	.	.	ENSG00000196159	ENST00000394329	T	0.61040	0.14	4.55	1.64	0.23874	Cadherin (4);Cadherin-like (1);	0.000000	0.34853	U	0.003622	T	0.69646	0.3134	M	0.70787	2.145	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.68996	-0.5262	10	0.87932	D	0	.	7.7849	0.29087	0.1359:0.701:0.0:0.163	.	420	Q6V0I7	FAT4_HUMAN	M	420	ENSP00000377862:I420M	ENSP00000377862:I420M	I	+	3	3	FAT4	126458276	0.997000	0.39634	0.997000	0.53966	0.953000	0.61014	0.601000	0.24119	0.541000	0.28827	-0.268000	0.10319	ATC		0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	30	0	0	0	0.248553	0	7	30				
MED18	54797	broad.mit.edu	37	1	28657231	28657231	+	Missense_Mutation	SNP	G	G	A	rs372363876		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:28657231G>A	ENST00000373842.4	+	2	267	c.58G>A	c.(58-60)Gag>Aag	p.E20K	MED18_ENST00000398997.2_Missense_Mutation_p.E20K|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	20						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TAACATGATGGAGTACCTGTT	0.483																																						ENST00000373842.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(58-60)Gag>Aag		mediator complex subunit 18							156.0	134.0	141.0					1																	28657231		2203	4300	6503	SO:0001583	missense	54797				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding	g.chr1:28657231G>A	BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"""mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"""			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.58G>A	1.37:g.28657231G>A	ENSP00000362948:p.Glu20Lys					MED18_ENST00000398997.2_Missense_Mutation_p.E20K|MED18_ENST00000479574.1_3'UTR	p.E20K	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)	2	267	+		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)	20					D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	c.58G>A	CCDS322.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595644	0.96602	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.45	5.45	0.79879	Mediator complex, subunit Med18, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	T	0.80444	0.4624	M	0.78456	2.415	0.39885	D	0.973685	D	0.76494	0.999	D	0.83275	0.996	D	0.83473	0.0060	9	0.87932	D	0	-22.7389	18.05	0.89344	0.0:0.0:1.0:0.0	.	20	Q9BUE0	MED18_HUMAN	K	20	.	ENSP00000362948:E20K	E	+	1	0	MED18	28529818	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.714000	0.91412	2.563000	0.86464	0.655000	0.94253	GAG		0.483	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		7	34	0	0	0	0.248553	0	7	34				
SCIN	85477	broad.mit.edu	37	7	12691524	12691524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:12691524C>T	ENST00000297029.5	+	15	2119	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000519209.1_Missense_Mutation_p.S426F|SCIN_ENST00000445618.2_Missense_Mutation_p.S426F	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	673	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCTCTGAAGTCTGGTAAGCTC	0.368																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(2017-2019)tCt>tTt		scinderin							123.0	112.0	115.0					7																	12691524		1854	4101	5955	SO:0001583	missense	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12691524C>T	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.2018C>T	7.37:g.12691524C>T	ENSP00000297029:p.Ser673Phe					SCIN_ENST00000519209.1_Missense_Mutation_p.S426F|SCIN_ENST00000445618.2_Missense_Mutation_p.S426F	p.S673F	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	15	2119	+			673			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.2018C>T	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132389	0.77662	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.55760	0.5;0.5;0.5	5.74	5.74	0.90152	Gelsolin domain (1);	0.055957	0.64402	D	0.000001	T	0.67942	0.2947	L	0.43152	1.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.66110	-0.6005	10	0.49607	T	0.09	-12.8966	19.9254	0.97100	0.0:1.0:0.0:0.0	.	673	Q9Y6U3	ADSV_HUMAN	F	673;426;426	ENSP00000297029:S673F;ENSP00000430997:S426F;ENSP00000390189:S426F	ENSP00000297029:S673F	S	+	2	0	SCIN	12658049	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.648000	0.46647	2.710000	0.92621	0.655000	0.94253	TCT		0.368	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		5	12	0	0	0	0.278610	0	5	12				
ZNF214	7761	broad.mit.edu	37	11	7022446	7022446	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:7022446C>G	ENST00000278314.4	-	3	783	c.468G>C	c.(466-468)atG>atC	p.M156I	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.M156I	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.M156I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTGAACCACTCATGTAGATTT	0.383																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			1	Substitution - Missense(1)	p.M156I(1)	urinary_tract(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(466-468)atG>atC		zinc finger protein 214							115.0	117.0	116.0					11																	7022446		2201	4295	6496	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022446C>G	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.468G>C	11.37:g.7022446C>G	ENSP00000278314:p.Met156Ile					ZNF214_ENST00000536068.1_Missense_Mutation_p.M156I	p.M156I	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	783	-			156					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.468G>C	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	1.158	-0.644563	0.03531	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.05447	3.44;3.44	4.29	0.121	0.14695	.	0.747211	0.11560	N	0.551809	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47420	-0.9119	10	0.19590	T	0.45	.	2.6151	0.04902	0.1508:0.523:0.1472:0.179	.	156	Q9UL59	ZN214_HUMAN	I	156	ENSP00000278314:M156I;ENSP00000445373:M156I	ENSP00000278314:M156I	M	-	3	0	ZNF214	6979022	0.000000	0.05858	0.002000	0.10522	0.513000	0.34164	-0.225000	0.09151	0.161000	0.19458	-0.175000	0.13238	ATG		0.383	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			35	124	0	0	0	0.769981	0	35	124				
FMOD	2331	broad.mit.edu	37	1	203316668	203316668	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:203316668G>A	ENST00000354955.4	-	2	1194	c.731C>T	c.(730-732)tCa>tTa	p.S244L	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	244					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCAAGAGCTGAGGGCAGCCC	0.587																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(730-732)tCa>tTa		fibromodulin							96.0	92.0	93.0					1																	203316668		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316668G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.731C>T	1.37:g.203316668G>A	ENSP00000347041:p.Ser244Leu					FMOD_ENST00000464898.1_5'UTR	p.S244L	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1194	-			244					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.731C>T	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	8.552	0.875779	0.17395	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04758	3.56	5.18	3.3	0.37823	.	0.456519	0.22534	N	0.058811	T	0.04679	0.0127	L	0.52011	1.625	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.35025	-0.9805	10	0.30078	T	0.28	-19.0046	4.1558	0.10260	0.25:0.1795:0.5705:0.0	.	244	Q06828	FMOD_HUMAN	L	231;244	ENSP00000347041:S244L	ENSP00000347041:S244L	S	-	2	0	FMOD	201583291	0.000000	0.05858	0.869000	0.34112	0.773000	0.43773	-0.092000	0.11129	1.190000	0.43042	0.655000	0.94253	TCA		0.587	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		18	162	0	0	0	0.557998	0	18	162				
ZFYVE19	84936	broad.mit.edu	37	15	41099536	41099536	+	5'UTR	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:41099536C>G	ENST00000355341.4	+	0	250				ZFYVE19_ENST00000564258.1_5'UTR|DNAJC17_ENST00000220496.4_Intron|ZFYVE19_ENST00000570108.1_Nonsense_Mutation_p.S17*|ZFYVE19_ENST00000336455.5_Nonsense_Mutation_p.S17*|ZFYVE19_ENST00000299173.10_5'Flank	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19						abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCAGACCTCTCAAGATCAGCC	0.622																																						ENST00000336455.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(49-51)tCa>tGa		zinc finger, FYVE domain containing 19							162.0	121.0	135.0					15																	41099536		2203	4300	6503	SO:0001623	5_prime_UTR_variant	84936						zinc ion binding	g.chr15:41099536C>G	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.-252C>G	15.37:g.41099536C>G						ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000355341.4_5'UTR|ZFYVE19_ENST00000570108.1_Nonsense_Mutation_p.S17*|DNAJC17_ENST00000220496.4_Intron	p.S17*	NM_032850.4	NP_116239.3	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	1	105	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	0					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Nonsense_Mutation	SNP	ENST00000355341.4	37	c.50C>G	CCDS42025.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805783	0.90623	.	.	ENSG00000166140	ENST00000336455	.	.	.	4.42	2.53	0.30540	.	.	.	.	.	.	.	.	.	.	.	0.21064	N	0.999798	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.6401	0.33972	0.0:0.8144:0.0:0.1856	.	.	.	.	X	17	.	ENSP00000337824:S17X	S	+	2	0	ZFYVE19	38886828	0.001000	0.12720	0.001000	0.08648	0.122000	0.20287	0.952000	0.29149	0.794000	0.33899	0.655000	0.94253	TCA		0.622	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		4	25	0	0	0	0.184627	0	4	25				
SYNM	23336	broad.mit.edu	37	15	99672808	99672808	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:99672808G>A	ENST00000336292.6	+	5	4360	c.4240G>A	c.(4240-4242)Gaa>Aaa	p.E1414K	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1415	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAAACCTCTGAACACATTGC	0.527																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4240-4242)Gaa>Aaa		synemin, intermediate filament protein							214.0	210.0	211.0					15																	99672808		2012	4194	6206	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672808G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4240G>A	15.37:g.99672808G>A	ENSP00000336775:p.Glu1414Lys					SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	p.E1414K	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4360	+			1415			Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.4240G>A		.	.	.	.	.	.	.	.	.	.	G	18.26	3.584426	0.65992	.	.	ENSG00000182253	ENST00000336292	D	0.85088	-1.94	5.38	4.47	0.54385	.	.	.	.	.	T	0.79644	0.4481	.	.	.	0.46586	D	0.999113	P	0.43431	0.807	B	0.35182	0.197	T	0.80874	-0.1187	8	0.66056	D	0.02	.	12.8333	0.57759	0.0782:0.0:0.9218:0.0	.	1415	O15061	SYNEM_HUMAN	K	1414	ENSP00000336775:E1414K	ENSP00000336775:E1414K	E	+	1	0	SYNM	97490331	0.119000	0.22226	0.005000	0.12908	0.036000	0.12997	2.094000	0.41719	1.258000	0.44101	0.557000	0.71058	GAA		0.527	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		29	249	0	0	0	0.706142	0	29	249				
FAT3	120114	broad.mit.edu	37	11	92577526	92577526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:92577526C>A	ENST00000298047.6	+	18	11010	c.10993C>A	c.(10993-10995)Cac>Aac	p.H3665N	FAT3_ENST00000533797.1_5'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.H3515N|FAT3_ENST00000409404.2_Missense_Mutation_p.H3665N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3665					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGTGGGGCTGCACATGCATGG	0.587										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10993-10995)Cac>Aac		FAT atypical cadherin 3							53.0	57.0	56.0					11																	92577526		2143	4256	6399	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577526C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10993C>A	11.37:g.92577526C>A	ENSP00000298047:p.His3665Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_5'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.H3665N|FAT3_ENST00000525166.1_Missense_Mutation_p.H3515N	p.H3665N			Q8TDW7	FAT3_HUMAN			18	11010	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3665					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10993C>A		.	.	.	.	.	.	.	.	.	.	C	27.0	4.787915	0.90367	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52754	0.65;0.65;0.65	5.94	5.94	0.96194	.	.	.	.	.	T	0.70587	0.3241	M	0.82517	2.595	0.80722	D	1	D;D	0.64830	0.994;0.989	P;P	0.59761	0.827;0.863	T	0.73363	-0.4006	9	0.72032	D	0.01	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	3665;3665	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	N	3665;3665;3515	ENSP00000298047:H3665N;ENSP00000387040:H3665N;ENSP00000432586:H3515N	ENSP00000298047:H3665N	H	+	1	0	FAT3	92217174	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.885000	0.63142	2.816000	0.96949	0.561000	0.74099	CAC		0.587	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	80	1	0	0.00024832	0.150653	0.00026368	4	80				
SCN3A	6328	broad.mit.edu	37	2	165949010	165949010	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:165949010C>G	ENST00000360093.3	-	27	5052	c.4561G>C	c.(4561-4563)Gat>Cat	p.D1521H	SCN3A_ENST00000540861.1_Missense_Mutation_p.D4H|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1521H|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1472H|SCN3A_ENST00000465043.1_5'UTR|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1521					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTACAAAATCAAAGACCATT	0.353																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4561-4563)Gat>Cat		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						104.0	90.0	95.0					2																	165949010		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165949010C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4561G>C	2.37:g.165949010C>G	ENSP00000353206:p.Asp1521His					SCN3A_ENST00000540861.1_Missense_Mutation_p.D4H|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1521H|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1472H|SCN3A_ENST00000465043.1_5'UTR	p.D1521H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			27	5052	-			1521					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4561G>C		.	.	.	.	.	.	.	.	.	.	C	27.8	4.863649	0.91511	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.97232	-4.12;-4.12;-4.05;-4.3	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	H	0.94423	3.535	0.80722	D	1	D;P;D	0.89917	1.0;0.952;0.999	D;P;P	0.91635	0.999;0.822;0.86	D	0.99167	1.0863	10	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1472;1472;1521	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	H	1521;1521;1472;4	ENSP00000353206:D1521H;ENSP00000283254:D1521H;ENSP00000386726:D1472H;ENSP00000439920:D4H	ENSP00000283254:D1521H	D	-	1	0	SCN3A	165657256	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.776000	0.85560	2.894000	0.99253	0.591000	0.81541	GAT		0.353	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		16	56	0	0	0	0.479597	0	16	56				
MED29	55588	broad.mit.edu	37	19	39880720	39880720	+	5'Flank	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:39880720G>A	ENST00000599213.2	+	0	0				PAF1_ENST00000221266.7_Silent_p.F43F|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Silent_p.F53F|PAF1_ENST00000595564.1_Silent_p.F43F			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGTTCTGGTCGAAGGGGTAGG	0.532																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(157-159)ttC>ttT		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							157.0	153.0	154.0					19																	39880720		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39880720G>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880720G>A	Exception_encountered					PAF1_ENST00000595564.1_Silent_p.F43F|PAF1_ENST00000221266.7_Silent_p.F43F	p.F53F	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		3	489	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		53					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.159C>T		.	.	.	.	.	.	.	.	.	.	g	17.88	3.496272	0.64186	.	.	ENSG00000006712	ENST00000416728	.	.	.	5.64	-4.46	0.03536	.	.	.	.	.	T	0.30008	0.0751	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	T	0.37103	-0.9720	5	0.21014	T	0.42	-16.7299	11.6103	0.51055	0.6929:0.0:0.3071:0.0	.	.	.	.	L	41	.	ENSP00000396412:S41L	S	-	2	0	PAF1	44572560	0.210000	0.23517	0.961000	0.40146	0.994000	0.84299	-0.473000	0.06615	-0.514000	0.06488	0.651000	0.88453	TCG		0.532	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		4	106	0	0	0	0.150653	0	4	106				
DYNC1H1	1778	broad.mit.edu	37	14	102508999	102508999	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:102508999C>T	ENST00000360184.4	+	69	12591	c.12427C>T	c.(12427-12429)Cgc>Tgc	p.R4143C	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4143	AAA 6. {ECO:0000250}.		R -> C. {ECO:0000269|PubMed:23033978}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCGTGCGGGCCGCATCTTTGT	0.582																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12427-12429)Cgc>Tgc		dynein, cytoplasmic 1, heavy chain 1							81.0	68.0	72.0					14																	102508999		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102508999C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12427C>T	14.37:g.102508999C>T	ENSP00000348965:p.Arg4143Cys					RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	p.R4143C	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			69	12591	+			4143			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12427C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466982	0.63625	.	.	ENSG00000197102	ENST00000360184	T	0.08896	3.04	6.07	5.18	0.71444	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.23476	-1.0187	10	0.38643	T	0.18	.	11.1204	0.48287	0.1282:0.8057:0.0:0.0661	.	4143	Q14204	DYHC1_HUMAN	C	4143	ENSP00000348965:R4143C	ENSP00000348965:R4143C	R	+	1	0	DYNC1H1	101578752	1.000000	0.71417	0.920000	0.36463	0.036000	0.12997	5.918000	0.69996	1.577000	0.49804	0.655000	0.94253	CGC		0.582	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		7	63	0	0	0	0.278610	0	7	63				
B4GALNT3	283358	broad.mit.edu	37	12	675230	675230	+	IGR	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:675230G>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000433832.2_Silent_p.L14L|NINJ2_ENST00000397265.3_Silent_p.L43L|NINJ2_ENST00000305108.4_Silent_p.L96L|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000542920.1_Silent_p.L14L	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACCGCCTTCAGCCGCATGGCG	0.612																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(286-288)Ctg>Ttg		ninjurin 2							145.0	99.0	115.0					12																	675230		2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:675230G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675230G>A						NINJ2_ENST00000433832.2_Silent_p.L14L|NINJ2_ENST00000542920.1_Silent_p.L14L|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000397265.3_Silent_p.L43L	p.L96L	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		2	566	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		50					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.286C>T	CCDS8504.1																																																																																				0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		12	43	0	0	0	0.387290	0	12	43				
CTNND2	1501	broad.mit.edu	37	5	11364901	11364901	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:11364901G>A	ENST00000304623.8	-	8	1468	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	CTNND2_ENST00000511377.1_Missense_Mutation_p.R336C|CTNND2_ENST00000359640.2_Missense_Mutation_p.R427C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R90C|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	427					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGATAGACGCGGTCTTCATAG	0.622																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1279-1281)Cgc>Tgc		catenin (cadherin-associated protein), delta 2							52.0	56.0	55.0					5																	11364901		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364901G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1279C>T	5.37:g.11364901G>A	ENSP00000307134:p.Arg427Cys					CTNND2_ENST00000511377.1_Missense_Mutation_p.R336C|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R90C|CTNND2_ENST00000359640.2_Missense_Mutation_p.R427C|CTNND2_ENST00000495388.2_5'UTR	p.R427C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			8	1468	-			427					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1279C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424387	0.83667	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	D;D;D;D	0.90197	-2.39;-2.63;-2.39;-2.08	5.47	4.52	0.55395	.	0.000000	0.64402	D	0.000008	D	0.93301	0.7865	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.93188	0.6580	10	0.87932	D	0	-11.6988	10.9741	0.47456	0.0:0.0:0.5842:0.4157	.	90;427	B4DRK2;Q9UQB3	.;CTND2_HUMAN	C	427;427;336;90;167	ENSP00000307134:R427C;ENSP00000352661:R427C;ENSP00000426510:R336C;ENSP00000426887:R90C	ENSP00000307134:R427C	R	-	1	0	CTNND2	11417901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.469000	0.60169	2.581000	0.87130	0.655000	0.94253	CGC		0.622	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		16	49	0	0	0	0.500413	0	16	49				
HIP1	3092	broad.mit.edu	37	7	75192564	75192564	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:75192564C>T	ENST00000336926.6	-	10	833	c.807G>A	c.(805-807)ttG>ttA	p.L269L	HIP1_ENST00000434438.2_Silent_p.L269L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	269					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACAGATCTTTCAACCTAGGGG	0.602			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(805-807)ttG>ttA		huntingtin interacting protein 1							64.0	58.0	60.0					7																	75192564		2203	4300	6503	SO:0001819	synonymous_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75192564C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.807G>A	7.37:g.75192564C>T						HIP1_ENST00000434438.2_Silent_p.L269L	p.L269L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			10	833	-			269					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	c.807G>A	CCDS34669.1																																																																																				0.602	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		6	65	0	0	0	0.217242	0	6	65				
FARP2	9855	broad.mit.edu	37	2	242407683	242407683	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:242407683C>T	ENST00000264042.3	+	18	2192	c.2022C>T	c.(2020-2022)ctC>ctT	p.L674L		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	674	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACTTGCCTCTCAACACGTTCC	0.567																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(2020-2022)ctC>ctT		FERM, RhoGEF and pleckstrin domain protein 2							114.0	97.0	103.0					2																	242407683		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242407683C>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2022C>T	2.37:g.242407683C>T							p.L674L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	18	2192	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	674			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.2022C>T	CCDS33424.1																																																																																				0.567	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			9	53	0	0	0	0.335167	0	9	53				
OC90	729330	broad.mit.edu	37	8	133051056	133051056	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:133051056C>G	ENST00000443356.2	-	8	695	c.609G>C	c.(607-609)ttG>ttC	p.L203F	OC90_ENST00000254627.3_Missense_Mutation_p.L203F|OC90_ENST00000262283.5_Missense_Mutation_p.L399F|OC90_ENST00000603859.1_Missense_Mutation_p.L203F			Q02509	OC90_HUMAN	otoconin 90	203					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGTGTTGTCAAGTCTTCCT	0.527																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(1195-1197)ttG>ttC		otoconin 90							87.0	92.0	90.0					8																	133051056		1916	4122	6038	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133051056C>G	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.609G>C	8.37:g.133051056C>G	ENSP00000390050:p.Leu203Phe					OC90_ENST00000254627.3_Missense_Mutation_p.L203F|OC90_ENST00000443356.2_Missense_Mutation_p.L203F|OC90_ENST00000603859.1_Missense_Mutation_p.L203F	p.L399F			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		11	1296	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		203			Phospholipase A2-like 3.		B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.1197G>C		.	.	.	.	.	.	.	.	.	.	C	11.47	1.648426	0.29336	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.34472	1.36;1.4;1.37	3.78	-0.475	0.12104	.	1.820550	0.03241	N	0.180416	T	0.37073	0.0990	L	0.29908	0.895	0.09310	N	1	P;P	0.51240	0.731;0.943	P;P	0.52109	0.549;0.69	T	0.28235	-1.0050	10	0.62326	D	0.03	1.0323	5.3044	0.15795	0.0:0.4849:0.316:0.1991	.	203;203	Q02509-2;Q02509	.;OC90_HUMAN	F	203;203;399	ENSP00000254627:L203F;ENSP00000390050:L203F;ENSP00000262283:L399F	ENSP00000254627:L203F	L	-	3	2	RP11-240B13.2;OC90	133120238	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.049000	0.14099	0.070000	0.16634	0.561000	0.74099	TTG		0.527	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		4	36	0	0	0	0.150653	0	4	36				
PDK4	5166	broad.mit.edu	37	7	95224335	95224335	+	Splice_Site	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:95224335C>T	ENST00000005178.5	-	2	469	c.272G>A	c.(271-273)tGg>tAg	p.W91*	AC002451.3_ENST00000416502.1_RNA|AC002451.3_ENST00000432265.1_RNA	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	91					cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CACCACTTACCAGCTTTTAAC	0.388																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.e2+1		pyruvate dehydrogenase kinase, isozyme 4							105.0	110.0	108.0					7																	95224335		2203	4300	6503	SO:0001630	splice_region_variant	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95224335C>T	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.272+1G>A	7.37:g.95224335C>T							p.W91_splice	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		2	469	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		91						Splice_Site	SNP	ENST00000005178.5	37	c.272_splice	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	37	6.551969	0.97658	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3609	0.94438	0.0:1.0:0.0:0.0	.	.	.	.	X	91;55	.	ENSP00000005178:W91X	W	-	2	0	PDK4	95062271	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	TGG		0.388	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612	Nonsense_Mutation	16	125	0	0	0	0.520397	0	16	125				
DICER1	23405	broad.mit.edu	37	14	95562276	95562276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:95562276G>A	ENST00000526495.1	-	25	5272	c.4981C>T	c.(4981-4983)Cac>Tac	p.H1661Y	DICER1_ENST00000343455.3_Missense_Mutation_p.H1661Y|DICER1_ENST00000527414.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000556045.1_Missense_Mutation_p.H559Y|DICER1_ENST00000393063.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000541352.1_Missense_Mutation_p.H1661Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1661					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GATATAAGGTGATTCAGTGTT	0.378			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(4981-4983)Cac>Tac		dicer 1, ribonuclease type III							119.0	120.0	120.0					14																	95562276		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95562276G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4981C>T	14.37:g.95562276G>A	ENSP00000437256:p.His1661Tyr					DICER1_ENST00000343455.3_Missense_Mutation_p.H1661Y|DICER1_ENST00000393063.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000527414.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000541352.1_Missense_Mutation_p.H1661Y|DICER1_ENST00000556045.1_Missense_Mutation_p.H559Y	p.H1661Y			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5272	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1661					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.4981C>T	CCDS9931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.315812|3.315812	0.60524|0.60524	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352|ENST00000532939	T;T;T;T;D;T|.	0.86769|.	0.36;0.36;0.36;0.36;-2.17;0.65|.	5.78|5.78	4.9|4.9	0.64082|0.64082	.|.	0.105642|.	0.64402|.	D|.	0.000005|.	T|T	0.73079|0.73079	0.3541|0.3541	M|M	0.72118|0.72118	2.19|2.19	0.58432|0.58432	D|D	0.999999|0.999999	B;D;D|.	0.71674|.	0.037;0.998;0.985|.	B;D;D|.	0.74674|.	0.052;0.984;0.923|.	T|T	0.73616|0.73616	-0.3926|-0.3926	10|5	0.02654|.	T|.	1|.	-26.2863|-26.2863	15.0569|15.0569	0.71921|0.71921	0.068:0.0:0.932:0.0|0.068:0.0:0.932:0.0	.|.	559;1661;1661|.	B3KRG4;E0AD28;Q9UPY3|.	.;.;DICER_HUMAN|.	Y|L	1661;1661;1661;1661;559;1661|339	ENSP00000343745:H1661Y;ENSP00000437256:H1661Y;ENSP00000376783:H1661Y;ENSP00000435681:H1661Y;ENSP00000451041:H559Y;ENSP00000444719:H1661Y|.	ENSP00000343745:H1661Y|.	H|S	-|-	1|2	0|0	DICER1|DICER1	94632029|94632029	1.000000|1.000000	0.71417|0.71417	0.884000|0.884000	0.34674|0.34674	0.966000|0.966000	0.64601|0.64601	7.537000|7.537000	0.82033|0.82033	1.452000|1.452000	0.47756|0.47756	-0.143000|-0.143000	0.13931|0.13931	CAC|TCA		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			20	126	0	0	0	0.575678	0	20	126				
TP53BP1	7158	broad.mit.edu	37	15	43730581	43730581	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:43730581G>C	ENST00000263801.3	-	16	3369	c.3117C>G	c.(3115-3117)atC>atG	p.I1039M	TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1044M|TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1044M|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1044M	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1039					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGGCTTCACAGATACAGCTCA	0.398								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(3115-3117)atC>atG	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							86.0	81.0	83.0					15																	43730581		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43730581G>C	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3117C>G	15.37:g.43730581G>C	ENSP00000263801:p.Ile1039Met					TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1044M|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1044M|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1044M	p.I1039M	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	16	3369	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1039					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.3117C>G	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	6.780	0.512819	0.12944	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.10477	3.69;3.69;3.69;3.69;2.87	5.15	3.08	0.35506	.	0.621797	0.15138	N	0.278423	T	0.11153	0.0272	L	0.43152	1.355	0.27723	N	0.945055	B;B;B;B	0.15930	0.01;0.009;0.015;0.015	B;B;B;B	0.18871	0.016;0.01;0.023;0.023	T	0.12167	-1.0558	10	0.54805	T	0.06	-0.2091	11.311	0.49364	0.0:0.3564:0.6436:0.0	.	1044;1039;1044;1044	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	M	1039;1044;1044;1044;1004	ENSP00000263801:I1039M;ENSP00000371475:I1044M;ENSP00000371470:I1044M;ENSP00000393497:I1044M;ENSP00000388028:I1004M	ENSP00000263801:I1039M	I	-	3	3	TP53BP1	41517873	1.000000	0.71417	0.795000	0.32087	0.047000	0.14425	1.297000	0.33400	1.265000	0.44215	0.609000	0.83330	ATC		0.398	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			15	71	0	0	0	0.500413	0	15	71				
LDHA	3939	broad.mit.edu	37	11	18422455	18422455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:18422455C>T	ENST00000422447.3	+	4	589	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	LDHA_ENST00000540430.1_Missense_Mutation_p.R135C|LDHA_ENST00000542179.1_Missense_Mutation_p.R106C|LDHA_ENST00000396222.2_Missense_Mutation_p.R106C|LDHA_ENST00000430553.2_Intron|LDHA_ENST00000227157.4_Missense_Mutation_p.R106C|LDHA_ENST00000379412.5_Missense_Mutation_p.R106C	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	106					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						GGGAGAAAGCCGTCTTAATTT	0.413																																						ENST00000422447.3																			0				central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						c.(316-318)Cgt>Tgt		lactate dehydrogenase A	NADH(DB00157)						105.0	88.0	94.0					11																	18422455		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18422455C>T	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.316C>T	11.37:g.18422455C>T	ENSP00000395337:p.Arg106Cys					LDHA_ENST00000542179.1_Missense_Mutation_p.R106C|LDHA_ENST00000396222.2_Missense_Mutation_p.R106C|LDHA_ENST00000540430.1_Missense_Mutation_p.R135C|LDHA_ENST00000430553.2_Intron|LDHA_ENST00000227157.4_Missense_Mutation_p.R106C|LDHA_ENST00000379412.5_Missense_Mutation_p.R106C	p.R106C	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN			4	589	+			106					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.316C>T	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198723	0.94997	.	.	ENSG00000134333	ENST00000422447;ENST00000543445;ENST00000396222;ENST00000541620;ENST00000445376;ENST00000227157;ENST00000478970;ENST00000495052;ENST00000540430;ENST00000379412;ENST00000542179	D;D;D;D;D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24	5.03	5.03	0.67393	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.055571	0.85682	D	0.000000	D	0.98966	0.9648	H	0.96301	3.8	0.80722	D	1	D;B;D;P	0.69078	0.996;0.276;0.997;0.928	D;B;P;D	0.68621	0.959;0.103;0.854;0.934	D	0.99100	1.0843	10	0.59425	D	0.04	-6.2485	18.9123	0.92490	0.0:1.0:0.0:0.0	.	135;79;106;106	B7Z5E3;B4DJI1;F8W819;P00338	.;.;.;LDHA_HUMAN	C	106;106;106;78;79;106;106;106;135;106;106	ENSP00000395337:R106C;ENSP00000440161:R106C;ENSP00000379524:R106C;ENSP00000227157:R106C;ENSP00000441241:R106C;ENSP00000446415:R106C;ENSP00000445175:R135C;ENSP00000368722:R106C;ENSP00000445331:R106C	ENSP00000227157:R106C	R	+	1	0	LDHA	18379031	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.739000	0.68622	2.771000	0.95319	0.561000	0.74099	CGT		0.413	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		4	52	0	0	0	0.184627	0	4	52				
BAI3	577	broad.mit.edu	37	6	69684692	69684692	+	Silent	SNP	G	G	T	rs139424513		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:69684692G>T	ENST00000370598.1	+	9	2384	c.1563G>T	c.(1561-1563)tcG>tcT	p.S521S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	521					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTGATGTCGATGGTGTGGA	0.413																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1561-1563)tcG>tcT		brain-specific angiogenesis inhibitor 3							115.0	110.0	112.0					6																	69684692		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69684692G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1563G>T	6.37:g.69684692G>T							p.S521S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			9	2384	+		all_lung(197;0.212)	521					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.1563G>T	CCDS4968.1																																																																																				0.413	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			3	33	1	0	0.004672	0.115264	0.00481216	3	33				
CYP4A22	284541	broad.mit.edu	37	1	47614372	47614372	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:47614372C>G	ENST00000371891.3	+	12	1494	c.1463C>G	c.(1462-1464)cCc>cGc	p.P488R	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P390R|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	488						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCAGGATCCCCATCCCCATG	0.557																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1462-1464)cCc>cGc		cytochrome P450, family 4, subfamily A, polypeptide 22							120.0	113.0	116.0					1																	47614372		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47614372C>G		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1463C>G	1.37:g.47614372C>G	ENSP00000360958:p.Pro488Arg					CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P390R|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.P488R	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			12	1494	+			488					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1463C>G	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	15.91	2.973815	0.53720	.	.	ENSG00000162365	ENST00000371890;ENST00000371891	T;T	0.69561	-0.41;-0.4	1.83	1.83	0.25207	.	0.052368	0.85682	D	0.000000	T	0.73713	0.3622	L	0.46614	1.455	0.34460	D	0.701597	D	0.89917	1.0	D	0.79784	0.993	T	0.81191	-0.1045	10	0.87932	D	0	.	11.9763	0.53094	0.0:1.0:0.0:0.0	.	488	Q5TCH4	CP4AM_HUMAN	R	390;488	ENSP00000360957:P390R;ENSP00000360958:P488R	ENSP00000360957:P390R	P	+	2	0	CYP4A22	47386959	0.406000	0.25344	0.009000	0.14445	0.435000	0.31806	2.722000	0.47269	1.014000	0.39417	0.405000	0.27470	CCC		0.557	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		23	148	0	0	0	0.624587	0	23	148				
LRRK2	120892	broad.mit.edu	37	12	40745387	40745387	+	Missense_Mutation	SNP	G	G	A	rs201271001		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:40745387G>A	ENST00000298910.7	+	44	6486	c.6428G>A	c.(6427-6429)cGc>cAc	p.R2143H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2143			R -> H (in PARK8). {ECO:0000269|PubMed:18213618}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.R2150H(1)|p.R2143H(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGACGAGACGCATTTTATTA	0.398																																						ENST00000298910.7																			2	Substitution - Missense(2)	p.R2150H(1)|p.R2143H(1)	lung(2)	NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	GRCh37	CM081689	LRRK2	M		c.(6427-6429)cGc>cAc		leucine-rich repeat kinase 2		G	HIS/ARG	0,4406		0,0,2203	68.0	67.0	67.0		6428	-4.2	0.0	12		67	2,8598	2.2+/-6.3	0,2,4298	no	missense	LRRK2	NM_198578.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	2143/2528	40745387	2,13004	2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40745387G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6428G>A	12.37:g.40745387G>A	ENSP00000298910:p.Arg2143His						p.R2143H	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			44	6486	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2143		R -> H (in PARK8).			A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6428G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	1.383	-0.582783	0.03827	0.0	2.33E-4	ENSG00000188906	ENST00000298910	T	0.71579	-0.58	6.06	-4.2	0.03823	.	0.511877	0.24012	N	0.042362	T	0.29684	0.0741	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.41142	-0.9525	10	0.10902	T	0.67	.	7.7691	0.28997	0.6174:0.0:0.2892:0.0934	.	2143;2143	Q17RV3;Q5S007	.;LRRK2_HUMAN	H	2143	ENSP00000298910:R2143H	ENSP00000298910:R2143H	R	+	2	0	LRRK2	39031654	0.071000	0.21146	0.002000	0.10522	0.114000	0.19823	0.496000	0.22499	-1.025000	0.03334	-2.154000	0.00331	CGC		0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		13	53	0	0	0	0.457914	0	13	53				
SMOC1	64093	broad.mit.edu	37	14	70418890	70418890	+	Silent	SNP	C	C	G	rs373582517		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:70418890C>G	ENST00000381280.4	+	2	388	c.135C>G	c.(133-135)ctC>ctG	p.L45L	SMOC1_ENST00000361956.3_Silent_p.L45L|SMOC1_ENST00000555917.1_3'UTR	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	45	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGCAACCTCCACTGCTCCA	0.522																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(133-135)ctC>ctG		SPARC related modular calcium binding 1							131.0	120.0	124.0					14																	70418890		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70418890C>G	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.135C>G	14.37:g.70418890C>G						SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.L45L	p.L45L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	2	388	+			45			Kazal-like.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.135C>G	CCDS9798.1																																																																																				0.522	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			26	94	0	0	0	0.681144	0	26	94				
PRSS36	146547	broad.mit.edu	37	16	31151714	31151714	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:31151714G>A	ENST00000268281.4	-	14	2248	c.2190C>T	c.(2188-2190)tcC>tcT	p.S730S	PRSS36_ENST00000418068.2_Intron|PRSS36_ENST00000569305.1_Silent_p.S725S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	730	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GTGTCAAGATGGAGACAGCAG	0.592																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(2188-2190)tcC>tcT		protease, serine, 36							83.0	83.0	83.0					16																	31151714		2197	4300	6497	SO:0001819	synonymous_variant	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31151714G>A	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2190C>T	16.37:g.31151714G>A						PRSS36_ENST00000569305.1_Silent_p.S725S|PRSS36_ENST00000418068.2_Intron	p.S730S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			14	2248	-			730			Peptidase S1 3.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	ENST00000268281.4	37	c.2190C>T	CCDS32436.1																																																																																				0.592	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		6	63	0	0	0	0.248553	0	6	63				
SNHG14	104472715	broad.mit.edu	37	15	25307553	25307553	+	RNA	SNP	G	G	A	rs540078148		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:25307553G>A	ENST00000549804.2	+	0	397				SNORD116-6_ENST00000384711.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNHG14_ENST00000384733.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TCATACCGTCGTTCTCATCAG	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20262	0.0		0.0	False		,,,				2504	0.0					ENST00000549804.2																			0																				180.0	161.0	167.0					15																	25307553		876	1991	2867			104472715							g.chr15:25307553G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25307553G>A						SNORD116-5_ENST00000384462.1_RNA								0	397	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.498	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			10	90	0	0	0	0.335167	0	10	90				
SLC45A4	57210	broad.mit.edu	37	8	142228641	142228641	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:142228641G>A	ENST00000024061.3	-	4	1252	c.945C>T	c.(943-945)gcC>gcT	p.A315A	SLC45A4_ENST00000517878.1_Silent_p.A366A|SLC45A4_ENST00000519067.1_Silent_p.A315A|SLC45A4_ENST00000433583.2_Silent_p.A308A	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCTCCTTGGCGGCTTCCTTGA	0.622																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(943-945)gcC>gcT		solute carrier family 45, member 4							41.0	45.0	44.0					8																	142228641		2201	4299	6500	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142228641G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.945C>T	8.37:g.142228641G>A						SLC45A4_ENST00000517878.1_Silent_p.A366A|SLC45A4_ENST00000024061.3_Silent_p.A315A|SLC45A4_ENST00000433583.2_Silent_p.A308A	p.A315A			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1248	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		366					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.945C>T	CCDS34948.1																																																																																				0.622	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		22	83	0	0	0	0.740014	0	22	83				
NR6A1	2649	broad.mit.edu	37	9	127289143	127289143	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:127289143G>A	ENST00000487099.2	-	8	1273	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	NR6A1_ENST00000344523.4_Silent_p.L371L|NR6A1_ENST00000416460.2_Silent_p.L367L|NR6A1_ENST00000373584.3_Silent_p.L368L	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	372					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AGAGGTAGATGAGCCGCTCGA	0.493																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(1114-1116)ctC>ctT		nuclear receptor subfamily 6, group A, member 1							158.0	132.0	141.0					9																	127289143		2203	4300	6503	SO:0001819	synonymous_variant	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127289143G>A	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1116C>T	9.37:g.127289143G>A						NR6A1_ENST00000373584.3_Silent_p.L368L|NR6A1_ENST00000344523.4_Silent_p.L371L|NR6A1_ENST00000416460.2_Silent_p.L367L	p.L372L	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			8	1273	-			372					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Silent	SNP	ENST00000487099.2	37	c.1116C>T	CCDS35137.1																																																																																				0.493	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			11	146	0	0	0	0.361761	0	11	146				
IL17RE	132014	broad.mit.edu	37	3	9945094	9945094	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:9945094C>A	ENST00000383814.3	+	2	251	c.146C>A	c.(145-147)aCt>aAt	p.T49N	IL17RE_ENST00000454190.2_Missense_Mutation_p.T49N|IL17RE_ENST00000421412.1_Missense_Mutation_p.T82N|IL17RE_ENST00000295980.3_Missense_Mutation_p.T49N	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	49					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GACAGTTTCACTGGTGAGTCG	0.512																																						ENST00000454190.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21						c.(145-147)aCt>aAt		interleukin 17 receptor E							109.0	92.0	97.0					3																	9945094		2203	4300	6503	SO:0001583	missense	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9945094C>A	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.146C>A	3.37:g.9945094C>A	ENSP00000373325:p.Thr49Asn					IL17RE_ENST00000295980.3_Missense_Mutation_p.T49N|IL17RE_ENST00000421412.1_Missense_Mutation_p.T82N|IL17RE_ENST00000383814.3_Missense_Mutation_p.T49N	p.T49N	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	2	231	+			49					B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	ENST00000383814.3	37	c.146C>A	CCDS2589.1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079675	0.20309	.	.	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000454992	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.58	4.78	0.342	0.15996	.	1.207730	0.05950	N	0.638676	T	0.12603	0.0306	L	0.44542	1.39	0.09310	N	1	P;P;B	0.39157	0.662;0.662;0.244	B;B;B	0.37304	0.246;0.246;0.037	T	0.32719	-0.9896	10	0.45353	T	0.12	2.6514	6.2164	0.20658	0.0:0.4923:0.0:0.5077	.	49;49;49	Q8NFR9-3;Q8NFR9-5;Q8NFR9	.;.;I17RE_HUMAN	N	82;49;49;49;49	ENSP00000404916:T82N;ENSP00000295980:T49N;ENSP00000373325:T49N;ENSP00000388086:T49N;ENSP00000400768:T49N	ENSP00000295980:T49N	T	+	2	0	IL17RE	9920094	0.012000	0.17670	0.150000	0.22450	0.529000	0.34654	0.259000	0.18405	0.193000	0.20303	-0.258000	0.10820	ACT		0.512	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		10	38	1	0	1.61879e-10	0.411799	1.81234e-10	10	38				
DLC1	10395	broad.mit.edu	37	8	12957657	12957657	+	Missense_Mutation	SNP	C	C	T	rs140340878		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:12957657C>T	ENST00000276297.4	-	9	2598	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q	DLC1_ENST00000520226.1_Missense_Mutation_p.R219Q|DLC1_ENST00000512044.2_Missense_Mutation_p.R327Q|DLC1_ENST00000358919.2_Missense_Mutation_p.R293Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	730	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCCTCTTTCGTACCATGGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18540	0.0		0.001	False		,,,				2504	0.0					ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2188-2190)cGa>cAa		deleted in liver cancer 1		C	GLN/ARG,GLN/ARG,GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	84.0	67.0	73.0		656,878,2189	3.8	1.0	8	dbSNP_134	73	21,8579	15.3+/-51.7	0,21,4279	yes	missense,missense,missense	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	43,43,43	0,25,6478	TT,TC,CC		0.2442,0.0908,0.1922	possibly-damaging,possibly-damaging,possibly-damaging	219/1018,293/1092,730/1529	12957657	25,12981	2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957657C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2189G>A	8.37:g.12957657C>T	ENSP00000276297:p.Arg730Gln					DLC1_ENST00000512044.2_Missense_Mutation_p.R327Q|DLC1_ENST00000520226.1_Missense_Mutation_p.R219Q|DLC1_ENST00000358919.2_Missense_Mutation_p.R293Q	p.R730Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2598	-			730					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2189G>A	CCDS5989.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	15.38	2.817532	0.50633	9.08E-4	0.002442	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.05925	3.62;3.39;3.38;3.37	4.71	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	M	0.63428	1.95	0.80722	D	1	P;B;D	0.89917	0.895;0.328;1.0	B;B;D	0.83275	0.295;0.018;0.996	T	0.00277	-1.1854	10	0.38643	T	0.18	.	13.8763	0.63655	0.0:0.9222:0.0:0.0778	.	730;327;293	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	Q	730;293;327;219	ENSP00000276297:R730Q;ENSP00000351797:R293Q;ENSP00000422595:R327Q;ENSP00000428028:R219Q	ENSP00000276297:R730Q	R	-	2	0	DLC1	13002028	0.999000	0.42202	0.978000	0.43139	0.997000	0.91878	4.775000	0.62346	2.614000	0.88457	0.561000	0.74099	CGA		0.612	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		6	71	0	0	0	0.248553	0	6	71				
SMYD3	64754	broad.mit.edu	37	1	246498710	246498710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:246498710G>A	ENST00000388985.4	-	3	294	c.295C>T	c.(295-297)Cca>Tca	p.P99S	SMYD3_ENST00000541742.1_Missense_Mutation_p.P40S|SMYD3_ENST00000490107.1_Missense_Mutation_p.P40S|SMYD3_ENST00000403792.3_Missense_Mutation_p.P99S			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	99	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ACGGAGTCTGGAGGATATCTG	0.408																																						ENST00000490107.1																			0				breast(3)|large_intestine(5)|lung(8)|skin(1)	17						c.(118-120)Cca>Tca		SET and MYND domain containing 3							167.0	167.0	167.0					1																	246498710		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246498710G>A	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.295C>T	1.37:g.246498710G>A	ENSP00000373637:p.Pro99Ser					SMYD3_ENST00000403792.3_Missense_Mutation_p.P99S|SMYD3_ENST00000388985.4_Missense_Mutation_p.P99S|SMYD3_ENST00000541742.1_Missense_Mutation_p.P40S	p.P40S	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	3	334	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	99					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.118C>T	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551076	0.45383	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000388985;ENST00000453676;ENST00000403792;ENST00000455277	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.41	5.41	0.78517	SET domain (2);	0.353984	0.28398	N	0.015493	T	0.17066	0.0410	L	0.31207	0.915	0.53005	D	0.999966	D	0.58268	0.982	P	0.49752	0.621	T	0.03184	-1.1063	10	0.20519	T	0.43	-6.8895	18.557	0.91089	0.0:0.0:1.0:0.0	.	99	Q9H7B4	SMYD3_HUMAN	S	40;40;99;40;99;40	ENSP00000444184:P40S;ENSP00000419184:P40S;ENSP00000373637:P99S;ENSP00000408122:P40S;ENSP00000385380:P99S	ENSP00000373637:P99S	P	-	1	0	SMYD3	244565333	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	4.578000	0.60929	2.704000	0.92352	0.655000	0.94253	CCA		0.408	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		28	105	0	0	0	0.740014	0	28	105				
BCL6B	255877	broad.mit.edu	37	17	6930330	6930330	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:6930330C>A	ENST00000293805.5	+	8	1339	c.1247C>A	c.(1246-1248)aCc>aAc	p.T416N		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	416					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						CCTTGCCCTACCTGCGGAACC	0.647																																						ENST00000293805.5																			0				skin(1)	1						c.(1246-1248)aCc>aAc		B-cell CLL/lymphoma 6, member B							62.0	73.0	69.0					17																	6930330		2127	4269	6396	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6930330C>A	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1247C>A	17.37:g.6930330C>A	ENSP00000293805:p.Thr416Asn						p.T416N	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			8	1339	+			416					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.1247C>A	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888177	0.33348	.	.	ENSG00000161940	ENST00000293805;ENST00000537931	T	0.07800	3.16	4.63	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.111913	0.64402	D	0.000013	T	0.14787	0.0357	L	0.41124	1.26	0.38384	D	0.945228	D	0.61697	0.99	D	0.64410	0.925	T	0.07195	-1.0785	10	0.35671	T	0.21	.	6.9768	0.24679	0.0:0.7979:0.0:0.2021	.	416	Q8N143	BCL6B_HUMAN	N	416;12	ENSP00000293805:T416N	ENSP00000293805:T416N	T	+	2	0	BCL6B	6871054	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	1.584000	0.36589	1.164000	0.42652	-0.251000	0.11542	ACC		0.647	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		3	62	1	0	0.000602214	0.184627	0.000629727	3	62				
TSPAN10	83882	broad.mit.edu	37	17	79612251	79612251	+	RNA	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:79612251G>A	ENST00000572675.1	+	0	270				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTCCCTGCTGGGGCTGCTGG	0.662																																						ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10							37.0	42.0	40.0					17																	79612251		1921	4130	6051			83882					integral to membrane		g.chr17:79612251G>A	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612251G>A						TSPAN10_ENST00000572675.1_RNA		NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	360	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q8N548	RNA	SNP	ENST00000572675.1	37																																																																																						0.662	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		19	73	0	0	0	0.557998	0	19	73				
PRUNE2	158471	broad.mit.edu	37	9	79325493	79325493	+	Missense_Mutation	SNP	T	T	C	rs184556479		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:79325493T>C	ENST00000376718.3	-	8	1820	c.1697A>G	c.(1696-1698)cAt>cGt	p.H566R	PRUNE2_ENST00000428286.1_Missense_Mutation_p.H207R	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	566					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCTCATCATGTTCCACAAG	0.473																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(619-621)cAt>cGt		prune homolog 2 (Drosophila)							48.0	42.0	43.0					9																	79325493		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325493T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1697A>G	9.37:g.79325493T>C	ENSP00000365908:p.His566Arg					PRUNE2_ENST00000376718.3_Missense_Mutation_p.H566R	p.H207R			Q8WUY3	PRUN2_HUMAN			8	1820	-			566					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.620A>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	4.845	0.157109	0.09236	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.43688	0.94;0.94	5.71	4.57	0.56435	.	0.247389	0.29145	N	0.013001	T	0.25082	0.0609	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.15052	0.012	T	0.04255	-1.0965	10	0.62326	D	0.03	-9.2449	11.9441	0.52918	0.865:0.0:0.0:0.135	.	566	Q8WUY3	PRUN2_HUMAN	R	566;207;565	ENSP00000365908:H566R;ENSP00000397425:H207R	ENSP00000365908:H566R	H	-	2	0	PRUNE2	78515313	1.000000	0.71417	0.996000	0.52242	0.121000	0.20230	4.003000	0.57061	0.986000	0.38683	-0.339000	0.08088	CAT		0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		23	35	0	0	0	0.608945	0	23	35				
CELSR2	1952	broad.mit.edu	37	1	109795151	109795151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:109795151G>A	ENST00000271332.3	+	1	2511	c.2450G>A	c.(2449-2451)cGa>cAa	p.R817Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	817	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGTTCCTGCGAGACTCCTAC	0.552																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(2449-2451)cGa>cAa		cadherin, EGF LAG seven-pass G-type receptor 2							116.0	105.0	109.0					1																	109795151		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795151G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2450G>A	1.37:g.109795151G>A	ENSP00000271332:p.Arg817Gln						p.R817Q	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2511	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	817			Cadherin 7.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2450G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	10.27	1.302622	0.23736	.	.	ENSG00000143126	ENST00000271332	T	0.01725	4.67	4.62	4.62	0.57501	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.00695	0.0023	N	0.00760	-1.21	0.23988	N	0.996252	D	0.89917	1.0	D	0.68192	0.956	T	0.54873	-0.8228	9	0.02654	T	1	.	18.0666	0.89392	0.0:0.0:1.0:0.0	.	817	Q9HCU4	CELR2_HUMAN	Q	817	ENSP00000271332:R817Q	ENSP00000271332:R817Q	R	+	2	0	CELSR2	109596674	0.998000	0.40836	0.991000	0.47740	0.937000	0.57800	7.750000	0.85110	2.589000	0.87451	0.555000	0.69702	CGA		0.552	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		10	79	0	0	0	0.335167	0	10	79				
C17orf70	80233	broad.mit.edu	37	17	79517287	79517287	+	Silent	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:79517287G>T	ENST00000327787.8	-	3	1279	c.1233C>A	c.(1231-1233)ccC>ccA	p.P411P	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Silent_p.P260P			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	411					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CATGCGTCCTGGGAGACGCGG	0.607																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(778-780)ccC>ccA		chromosome 17 open reading frame 70							59.0	67.0	64.0					17																	79517287		2179	4258	6437	SO:0001819	synonymous_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79517287G>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1233C>A	17.37:g.79517287G>T						C17orf70_ENST00000327787.8_Silent_p.P411P	p.P260P	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	1305	-	all_neural(118;0.0878)|Melanoma(429;0.242)		411					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	37	c.780C>A	CCDS32765.2																																																																																				0.607	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		27	101	1	0	1.7367e-05	0.706142	1.87309e-05	27	101				
TRIM61	391712	broad.mit.edu	37	4	165891361	165891361	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:165891361C>T	ENST00000329314.5	-	0	406					NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TCTACTGCCACGAACACTTCA	0.418																																						ENST00000329314.5																			0				NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5								tripartite motif containing 61																																						391712					intracellular	zinc ion binding	g.chr4:165891361C>T		CCDS34093.1	4q32.3	2013-01-09	2011-01-25			ENSG00000183439		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24339	protein-coding gene	gene with protein product			"""ring finger protein 35"", ""tripartite motif-containing 61"""	RNF35			Standard	NM_001012414		Approved		uc003iqw.3	Q5EBN2			4.37:g.165891361C>T								NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN		GBM - Glioblastoma multiforme(119;0.155)	0	406	-	all_hematologic(180;0.221)	Prostate(90;0.109)							Translation_Start_Site	SNP	ENST00000329314.5	37		CCDS34093.1																																																																																				0.418	TRIM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364331.1	XM_373038		2	2	0	0	0	0.115264	0	2	2				
TTC33	23548	broad.mit.edu	37	5	40747015	40747015	+	Missense_Mutation	SNP	C	C	T	rs142188985		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:40747015C>T	ENST00000337702.4	-	2	258	c.106G>A	c.(106-108)Gat>Aat	p.D36N	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	36										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTCCCTTCATCGTTGTCAACT	0.443																																						ENST00000337702.4																			0				NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(106-108)Gat>Aat		tetratricopeptide repeat domain 33							113.0	96.0	102.0					5																	40747015		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40747015C>T	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.106G>A	5.37:g.40747015C>T	ENSP00000338533:p.Asp36Asn					TTC33_ENST00000503936.2_5'UTR	p.D36N	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN			2	258	-			36					B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.106G>A	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	C	8.590	0.884399	0.17467	.	.	ENSG00000113638	ENST00000337702	T	0.32988	1.43	5.65	4.69	0.59074	.	0.345812	0.32884	N	0.005540	T	0.14743	0.0356	N	0.14661	0.345	0.25448	N	0.988036	B	0.25743	0.133	B	0.16722	0.016	T	0.23976	-1.0173	10	0.07482	T	0.82	-5.6906	9.79	0.40699	0.0:0.7857:0.1359:0.0784	.	36	Q6PID6	TTC33_HUMAN	N	36	ENSP00000338533:D36N	ENSP00000338533:D36N	D	-	1	0	TTC33	40782772	0.926000	0.31397	0.283000	0.24790	0.077000	0.17291	2.472000	0.45136	1.226000	0.43582	0.655000	0.94253	GAT		0.443	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		3	32	0	0	0	0.184627	0	3	32				
COL14A1	7373	broad.mit.edu	37	8	121174684	121174684	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:121174684G>A	ENST00000297848.3	+	4	495	c.225G>A	c.(223-225)ctG>ctA	p.L75L	COL14A1_ENST00000309791.4_Silent_p.L75L|COL14A1_ENST00000247781.3_Silent_p.L75L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Silent_p.L75L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTAACCAGCTGAATCTGCAGA	0.313																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(223-225)ctG>ctA		collagen, type XIV, alpha 1							70.0	70.0	70.0					8																	121174684		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121174684G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.225G>A	8.37:g.121174684G>A						COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.L75L|COL14A1_ENST00000537875.1_Silent_p.L75L|COL14A1_ENST00000247781.3_Silent_p.L75L	p.L75L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		4	495	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		75			Fibronectin type-III 1.			Silent	SNP	ENST00000297848.3	37	c.225G>A	CCDS34938.1																																																																																				0.313	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		5	57	0	0	0	0.217242	0	5	57				
TOP3B	8940	broad.mit.edu	37	22	22313587	22313587	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:22313587C>G	ENST00000398793.2	-	16	2256	c.1822G>C	c.(1822-1824)Gag>Cag	p.E608Q	TOP3B_ENST00000357179.5_Missense_Mutation_p.E608Q	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	608					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AAAGACACCTCCATCAACTCA	0.602																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(1822-1824)Gag>Cag		topoisomerase (DNA) III beta							111.0	95.0	101.0					22																	22313587		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22313587C>G	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1822G>C	22.37:g.22313587C>G	ENSP00000381773:p.Glu608Gln					TOP3B_ENST00000357179.5_Missense_Mutation_p.E608Q	p.E608Q	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	16	2256	-	Colorectal(54;0.105)		608					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.1822G>C	CCDS13797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.264614|4.264614	0.80358|0.80358	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000357179;ENST00000398793|ENST00000457270	T;T|.	0.25749|.	1.78;1.78|.	5.1|5.1	5.1|5.1	0.69264|0.69264	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81884|0.81884	0.4917|0.4917	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	B;B;B|.	0.34161|.	0.096;0.096;0.439|.	B;B;B|.	0.32762|.	0.046;0.057;0.152|.	T|T	0.82898|0.82898	-0.0229|-0.0229	10|5	0.56958|.	D|.	0.05|.	.|.	18.692|18.692	0.91586|0.91586	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	153;608;608|.	B3KU89;O95985;O95985-2|.	.;TOP3B_HUMAN;.|.	Q|C	608|402	ENSP00000349705:E608Q;ENSP00000381773:E608Q|.	ENSP00000349705:E608Q|.	E|W	-|-	1|3	0|0	TOP3B|TOP3B	20643587|20643587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	7.235000|7.235000	0.78143|0.78143	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.602	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		6	83	0	0	0	0.248553	0	6	83				
ANKRD10	55608	broad.mit.edu	37	13	111558412	111558412	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:111558412G>A	ENST00000267339.2	-	3	557	c.423C>T	c.(421-423)atC>atT	p.I141I	ANKRD10_ENST00000375758.5_Silent_p.I141I|ANKRD10_ENST00000489973.2_5'UTR|ANKRD10_ENST00000310847.4_Silent_p.I141I	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	141										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CAAGGGCACTGATGCATTCTA	0.433																																						ENST00000375758.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(421-423)atC>atT		ankyrin repeat domain 10							63.0	47.0	53.0					13																	111558412		2203	4300	6503	SO:0001819	synonymous_variant	55608							g.chr13:111558412G>A	AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.423C>T	13.37:g.111558412G>A						ANKRD10_ENST00000489973.2_5'UTR|ANKRD10_ENST00000310847.4_Silent_p.I141I|ANKRD10_ENST00000267339.2_Silent_p.I141I	p.I141I			Q9NXR5	ANR10_HUMAN	all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)		3	557	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		141					Q5VW12|Q9BV12	Silent	SNP	ENST00000267339.2	37	c.423C>T	CCDS9520.1																																																																																				0.433	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1			3	14	0	0	0	0.184627	0	3	14				
IGHV3-49	28423	broad.mit.edu	37	14	107013028	107013028	+	RNA	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:107013028G>A	ENST00000390625.2	-	0	346									immunoglobulin heavy variable 3-49																		TTGAGATGGTGAATCTGCCTT	0.498																																						ENST00000390625.2																			0																				136.0	131.0	133.0					14																	107013028		1955	4142	6097			28423							g.chr14:107013028G>A	M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107013028G>A														0	346	-									RNA	SNP	ENST00000390625.2	37																																																																																						0.498	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324613.1	NG_001019		25	94	0	0	0	0.681144	0	25	94				
MUSK	4593	broad.mit.edu	37	9	113562840	113562840	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:113562840A>C	ENST00000374448.4	+	15	2316	c.2182A>C	c.(2182-2184)Acc>Ccc	p.T728P	MUSK_ENST00000189978.5_Missense_Mutation_p.T728P|MUSK_ENST00000416899.2_Missense_Mutation_p.T720P	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	728	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGATTTAGCCACCAGGAACTG	0.522																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(2158-2160)Acc>Ccc		muscle, skeletal, receptor tyrosine kinase							147.0	147.0	147.0					9																	113562840		1973	4163	6136	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113562840A>C	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2182A>C	9.37:g.113562840A>C	ENSP00000363571:p.Thr728Pro					MUSK_ENST00000189978.5_Missense_Mutation_p.T728P|MUSK_ENST00000374448.4_Missense_Mutation_p.T728P	p.T720P			O15146	MUSK_HUMAN			13	2284	+			728			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.2158A>C	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057670	0.76074	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.35605	1.3	5.45	4.29	0.51040	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	N	0.20530	0.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44982	-0.9292	10	0.87932	D	0	.	12.2326	0.54497	0.858:0.142:0.0:0.0	.	728	O15146	MUSK_HUMAN	P	734;728;728;642;642;726	ENSP00000363571:T728P	ENSP00000189978:T734P	T	+	1	0	MUSK	112602661	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.419000	0.80179	0.962000	0.38057	0.528000	0.53228	ACC		0.522	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				81	323	0	0	0	0.870114	0	81	323				
NEO1	4756	broad.mit.edu	37	15	73581580	73581580	+	Splice_Site	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:73581580G>A	ENST00000339362.5	+	26	4189		c.e26+1		NEO1_ENST00000261908.6_Splice_Site|NEO1_ENST00000558964.1_Splice_Site|NEO1_ENST00000560262.1_Splice_Site			Q92859	NEO1_HUMAN	neogenin 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCACCCCAGCGTAAGTAGAAG	0.458																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.e26+1		neogenin 1							133.0	88.0	103.0					15																	73581580		2198	4297	6495	SO:0001630	splice_region_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73581580G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3742+1G>A	15.37:g.73581580G>A						NEO1_ENST00000560262.1_Splice_Site|NEO1_ENST00000261908.6_Splice_Site|NEO1_ENST00000558964.1_Splice_Site				Q92859	NEO1_HUMAN			26	4189	+								B7ZKM9|B7ZKN0|O00340|Q17RX1	Splice_Site	SNP	ENST00000339362.5	37		CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361073	0.82353	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEO1	71368633	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.444000	0.97578	2.572000	0.86782	0.655000	0.94253	.		0.458	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	Intron	4	27	0	0	0	0.150653	0	4	27				
FREM2	341640	broad.mit.edu	37	13	39266631	39266631	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:39266631A>T	ENST00000280481.7	+	1	5366	c.5150A>T	c.(5149-5151)cAc>cTc	p.H1717L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1717					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAAGGCAACCACAGCATCACT	0.428																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(5149-5151)cAc>cTc		FRAS1 related extracellular matrix protein 2							118.0	116.0	117.0					13																	39266631		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266631A>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5150A>T	13.37:g.39266631A>T	ENSP00000280481:p.His1717Leu						p.H1717L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	5366	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1717					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.5150A>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.395731	0.25205	.	.	ENSG00000150893	ENST00000280481	T	0.40476	1.03	4.91	4.91	0.64330	.	0.345032	0.34750	N	0.003702	T	0.30978	0.0782	L	0.33668	1.02	0.41091	D	0.985591	B	0.18968	0.032	B	0.22753	0.041	T	0.10989	-1.0606	10	0.25751	T	0.34	.	10.1514	0.42796	0.921:0.0:0.079:0.0	.	1717	Q5SZK8	FREM2_HUMAN	L	1717	ENSP00000280481:H1717L	ENSP00000280481:H1717L	H	+	2	0	FREM2	38164631	0.998000	0.40836	1.000000	0.80357	0.651000	0.38670	3.507000	0.53371	1.977000	0.57605	0.533000	0.62120	CAC		0.428	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		8	91	0	0	0	0.307466	0	8	91				
CASC1	55259	broad.mit.edu	37	12	25272139	25272139	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:25272139C>G	ENST00000320267.9	-	11	1399	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.E400Q|CASC1_ENST00000545133.1_Missense_Mutation_p.E381Q|CASC1_ENST00000354189.5_Missense_Mutation_p.E504Q|CASC1_ENST00000537577.1_Missense_Mutation_p.E328Q|CASC1_ENST00000395987.3_Missense_Mutation_p.E446Q	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	440										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCATGAACCTCAAGTGTGACC	0.373																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1510-1512)Gag>Cag		cancer susceptibility candidate 1							116.0	106.0	109.0					12																	25272139		2203	4300	6503	SO:0001583	missense	55259							g.chr12:25272139C>G	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1318G>C	12.37:g.25272139C>G	ENSP00000313141:p.Glu440Gln					CASC1_ENST00000537577.1_Missense_Mutation_p.E328Q|CASC1_ENST00000545133.1_Missense_Mutation_p.E381Q|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.E446Q|CASC1_ENST00000320267.9_Missense_Mutation_p.E440Q|CASC1_ENST00000395990.2_Missense_Mutation_p.E400Q	p.E504Q	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		12	1545	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		440					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1510G>C	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.372|3.372	-0.128131|-0.128131	0.06753|0.06753	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246|ENST00000556006	T;T;T;T;T|.	0.46063|.	0.88;1.48;1.48;0.91;0.91|.	5.34|5.34	-8.69|-8.69	0.00855|0.00855	Casc1 domain (1);|.	0.976263|.	0.08470|.	N|.	0.941068|.	T|.	0.30665|.	0.0772|.	L|L	0.41356|0.41356	1.27|1.27	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.25719|.	0.024;0.052;0.132;0.064;0.052|.	B;B;B;B;B|.	0.19946|.	0.011;0.015;0.027;0.025;0.015|.	T|.	0.36065|.	-0.9763|.	10|.	0.12430|.	T|.	0.62|.	-0.3063|-0.3063	8.2559|8.2559	0.31756|0.31756	0.0:0.2331:0.3191:0.4477|0.0:0.2331:0.3191:0.4477	.|.	328;381;504;440;446|.	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;.;CASC1_HUMAN;.|.	Q|S	504;446;440;400;328;446;381;250|276	ENSP00000346126:E504Q;ENSP00000379310:E446Q;ENSP00000313141:E440Q;ENSP00000379313:E400Q;ENSP00000437373:E381Q|.	ENSP00000313141:E440Q|.	E|X	-|-	1|2	0|2	CASC1|CASC1	25163406|25163406	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.216000|0.216000	0.24613|0.24613	-2.621000|-2.621000	0.00878|0.00878	-1.505000|-1.505000	0.01807|0.01807	-0.182000|-0.182000	0.12963|0.12963	GAG|TGA		0.373	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		5	68	0	0	0	0.184627	0	5	68				
CNOT8	9337	broad.mit.edu	37	5	154250259	154250259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:154250259C>T	ENST00000517876.1	+	5	826	c.350C>T	c.(349-351)gCt>gTt	p.A117V	CNOT8_ENST00000521583.1_Missense_Mutation_p.A11V|CNOT8_ENST00000520671.1_Missense_Mutation_p.A11V|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000523698.1_Missense_Mutation_p.A11V|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000403027.2_Missense_Mutation_p.A117V|CNOT8_ENST00000521450.1_Missense_Mutation_p.A11V|CNOT8_ENST00000285896.6_Missense_Mutation_p.A117V			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	117					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATCTCCTTGCTAACTCAGGA	0.418																																					NSCLC(140;1804 1895 27149 29895 35312)	ENST00000517876.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(349-351)gCt>gTt		CCR4-NOT transcription complex, subunit 8							160.0	147.0	151.0					5																	154250259		2203	4300	6503	SO:0001583	missense	9337				negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:154250259C>T	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.350C>T	5.37:g.154250259C>T	ENSP00000430493:p.Ala117Val					CNOT8_ENST00000521450.1_Missense_Mutation_p.A11V|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000521583.1_Missense_Mutation_p.A11V|CNOT8_ENST00000520671.1_Missense_Mutation_p.A11V|CNOT8_ENST00000523698.1_Missense_Mutation_p.A11V|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000403027.2_Missense_Mutation_p.A117V|CNOT8_ENST00000285896.6_Missense_Mutation_p.A117V	p.A117V			Q9UFF9	CNOT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	826	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	117					B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP	ENST00000517876.1	37	c.350C>T	CCDS4329.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522677	0.64747	.	.	ENSG00000155508	ENST00000523698;ENST00000517876;ENST00000520472;ENST00000519211;ENST00000519903;ENST00000521450;ENST00000403027;ENST00000517568;ENST00000285896;ENST00000542339;ENST00000520671;ENST00000521583	T;T;T;T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.54	5.54	0.83059	Ribonuclease H-like (1);	0.101939	0.64402	D	0.000002	T	0.22244	0.0536	N	0.22421	0.69	0.80722	D	1	B	0.15141	0.012	B	0.15870	0.014	T	0.02617	-1.1133	10	0.48119	T	0.1	-9.835	19.4804	0.95007	0.0:1.0:0.0:0.0	.	117	Q9UFF9	CNOT8_HUMAN	V	11;117;117;117;11;11;117;117;117;94;11;11	ENSP00000428565:A11V;ENSP00000430493:A117V;ENSP00000430215:A117V;ENSP00000429108:A117V;ENSP00000428359:A11V;ENSP00000431034:A11V;ENSP00000384747:A117V;ENSP00000428090:A117V;ENSP00000285896:A117V;ENSP00000428305:A11V;ENSP00000429882:A11V	ENSP00000285896:A117V	A	+	2	0	CNOT8	154230452	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.663000	0.54518	2.600000	0.87896	0.555000	0.69702	GCT		0.418	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779		22	75	0	0	0	0.608945	0	22	75				
KIF18B	146909	broad.mit.edu	37	17	43009571	43009571	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:43009571C>A	ENST00000593135.1	-	10	1339	c.1242G>T	c.(1240-1242)caG>caT	p.Q414H	KIF18B_ENST00000438933.2_Missense_Mutation_p.Q426H|KIF18B_ENST00000339151.4_Missense_Mutation_p.Q426H|KIF18B_ENST00000590129.1_Missense_Mutation_p.Q435H|KIF18B_ENST00000587309.1_Missense_Mutation_p.Q426H	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	435	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGGTGCAGGGCTGGCTGGGAG	0.657																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(1276-1278)caG>caT		kinesin family member 18B							18.0	21.0	20.0					17																	43009571		1898	4102	6000	SO:0001583	missense	146909							g.chr17:43009571C>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1242G>T	17.37:g.43009571C>A	ENSP00000465992:p.Gln414His					KIF18B_ENST00000438933.2_Missense_Mutation_p.Q426H|KIF18B_ENST00000339151.4_Missense_Mutation_p.Q426H|KIF18B_ENST00000593135.1_Missense_Mutation_p.Q414H|KIF18B_ENST00000590129.1_Missense_Mutation_p.Q435H	p.Q426H	NM_001264573.1	NP_001251503.1					10	1301	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.1278G>T	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	16.90	3.251194	0.59212	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.64618	-0.11;-0.11	5.86	4.89	0.63831	.	.	.	.	.	T	0.72716	0.3495	M	0.65975	2.015	0.24219	N	0.995442	D;P;D	0.63880	0.989;0.928;0.993	P;P;P	0.58873	0.781;0.641;0.847	T	0.64394	-0.6418	9	0.56958	D	0.05	.	11.0852	0.48082	0.0:0.915:0.0:0.085	.	435;423;435	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	H	426	ENSP00000412798:Q426H;ENSP00000341466:Q426H	ENSP00000341466:Q426H	Q	-	3	2	KIF18B	40365097	0.964000	0.33143	0.468000	0.27192	0.619000	0.37552	1.266000	0.33039	1.484000	0.48361	0.655000	0.94253	CAG		0.657	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		3	17	1	0	0.00024832	0.150653	0.00026368	3	17				
BARHL1	56751	broad.mit.edu	37	9	135462894	135462894	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:135462894C>T	ENST00000263610.2	+	2	1258	c.645C>T	c.(643-645)ctC>ctT	p.L215L	BARHL1_ENST00000542090.1_Silent_p.L215L	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	215					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCGCCTCGCTCAACCTCACCG	0.647																																						ENST00000263610.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)	8						c.(643-645)ctC>ctT		BarH-like homeobox 1							27.0	23.0	25.0					9																	135462894		2202	4300	6502	SO:0001819	synonymous_variant	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135462894C>T	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.645C>T	9.37:g.135462894C>T						BARHL1_ENST00000542090.1_Silent_p.L215L	p.L215L	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	2	1258	+			215					Q5T6V2|Q9NY88	Silent	SNP	ENST00000263610.2	37	c.645C>T	CCDS6950.1																																																																																				0.647	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2			4	22	0	0	0	0.150653	0	4	22				
SEPT3	55964	broad.mit.edu	37	22	42377740	42377740	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:42377740C>G	ENST00000396426.3	+	2	357	c.102C>G	c.(100-102)atC>atG	p.I34M	SEPT3_ENST00000396425.3_Missense_Mutation_p.I34M|SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000328414.8_Missense_Mutation_p.I34M|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000291236.11_Intron	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	34					cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CCATGAGCATCAACTCCAACC	0.587																																						ENST00000396425.3																			0				breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(100-102)atC>atG		septin 3							102.0	77.0	85.0					22																	42377740		2203	4300	6503	SO:0001583	missense	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42377740C>G	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.102C>G	22.37:g.42377740C>G	ENSP00000379704:p.Ile34Met					SEPT3_ENST00000291236.11_Intron|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000396426.3_Missense_Mutation_p.I34M|SEPT3_ENST00000328414.8_Missense_Mutation_p.I34M|SEPT3_ENST00000406029.1_Intron	p.I34M	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN			2	233	+			34					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	c.102C>G	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842962	0.32606	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000328414;ENST00000396425	T;T;T	0.56275	0.47;0.61;0.61	5.6	5.6	0.85130	.	0.304180	0.35555	N	0.003121	T	0.40619	0.1124	L	0.36672	1.1	0.36960	D	0.893305	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.40997	-0.9533	10	0.44086	T	0.13	.	8.4883	0.33084	0.0:0.7427:0.141:0.1163	.	34;34	Q9UH03-2;Q9UH03	.;SEPT3_HUMAN	M	21;34;34;34	ENSP00000391416:I21M;ENSP00000379704:I34M;ENSP00000379703:I34M	ENSP00000332866:I34M	I	+	3	3	SEPT3	40707686	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.829000	0.27449	2.811000	0.96726	0.557000	0.71058	ATC		0.587	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		4	41	0	0	0	0.150653	0	4	41				
CPVL	54504	broad.mit.edu	37	7	29111497	29111497	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:29111497G>A	ENST00000409850.1	-	13	1402	c.756C>T	c.(754-756)ttC>ttT	p.F252F	CPVL_ENST00000396276.3_Silent_p.F252F|CPVL_ENST00000265394.5_Silent_p.F252F			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	252						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTTGGTACAGGAATTCTGCAT	0.428																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(754-756)ttC>ttT		carboxypeptidase, vitellogenic-like							120.0	108.0	112.0					7																	29111497		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29111497G>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.756C>T	7.37:g.29111497G>A						CPVL_ENST00000396276.3_Silent_p.F252F|CPVL_ENST00000265394.5_Silent_p.F252F	p.F252F			Q9H3G5	CPVL_HUMAN			13	1402	-			252					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.756C>T	CCDS5419.1																																																																																				0.428	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		40	63	0	0	0	0.853193	0	40	63				
HTR6	3362	broad.mit.edu	37	1	19992662	19992662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:19992662C>T	ENST00000289753.1	+	1	883	c.416C>T	c.(415-417)aCg>aTg	p.T139M		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	139					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CTGCGCATGACGCCCCTGCGT	0.687																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(415-417)aCg>aTg		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						56.0	49.0	51.0					1																	19992662		2203	4300	6503	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992662C>T	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.416C>T	1.37:g.19992662C>T	ENSP00000289753:p.Thr139Met						p.T139M	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	883	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	139					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.416C>T	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224445	0.79576	.	.	ENSG00000158748	ENST00000289753	T	0.45668	0.89	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76955	0.4060	H	0.98199	4.17	0.41713	D	0.989465	D	0.89917	1.0	D	0.97110	1.0	D	0.86820	0.2004	9	.	.	.	.	15.2597	0.73613	0.0:1.0:0.0:0.0	.	139	P50406	5HT6R_HUMAN	M	139	ENSP00000289753:T139M	.	T	+	2	0	HTR6	19865249	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	4.783000	0.62403	2.019000	0.59389	0.485000	0.47835	ACG		0.687	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		8	75	0	0	0	0.278610	0	8	75				
MLXIP	22877	broad.mit.edu	37	12	122622100	122622100	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:122622100C>G	ENST00000319080.7	+	12	2249	c.2117C>G	c.(2116-2118)tCa>tGa	p.S706*	MLXIP_ENST00000538698.1_Nonsense_Mutation_p.S313*					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AACAACTGCTCAGGGAAATCC	0.567																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(2116-2118)tCa>tGa		MLX interacting protein							110.0	114.0	113.0					12																	122622100		1969	4145	6114	SO:0001587	stop_gained	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122622100C>G	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2117C>G	12.37:g.122622100C>G	ENSP00000312834:p.Ser706*					MLXIP_ENST00000538698.1_Nonsense_Mutation_p.S313*	p.S706*			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	12	2249	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	706						Nonsense_Mutation	SNP	ENST00000319080.7	37	c.2117C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.946903|10.946903	0.99493|0.99493	.|.	.|.	ENSG00000175727|ENSG00000175727	ENST00000542417|ENST00000319080;ENST00000538698;ENST00000539039;ENST00000366272	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.485924	.|0.21583	.|N	.|0.072218	T|.	0.74222|.	0.3688|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73827|.	-0.3860|.	4|.	.|0.45353	.|T	.|0.12	.|.	17.2176|17.2176	0.86948|0.86948	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	42|706;313;313;177	.|.	.|ENSP00000312834:S706X	Q|S	+|+	1|2	0|0	MLXIP|MLXIP	121188053|121188053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.684000|5.684000	0.68197|0.68197	2.504000|2.504000	0.84457|0.84457	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.567	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		13	136	0	0	0	0.435327	0	13	136				
SDHAP1	255812	broad.mit.edu	37	3	195711456	195711456	+	RNA	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:195711456G>A	ENST00000427841.1	-	0	491					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AGAGCCTCCCGCCCATCACCG	0.562																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195711456G>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711456G>A								NR_003264.2						0	491	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.562	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			9	52	0	0	0	0.335167	0	9	52				
PODN	127435	broad.mit.edu	37	1	53537247	53537247	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:53537247G>A	ENST00000312553.5	+	3	504	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	PODN_ENST00000371500.3_Missense_Mutation_p.R147Q|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000471210.1_3'UTR|PODN_ENST00000395871.2_Intron	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	118					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGCTCTCCCGGCTGCACCGG	0.637																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(439-441)cGg>cAg		podocan							48.0	45.0	46.0					1																	53537247		2202	4300	6502	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53537247G>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.497G>A	1.37:g.53537247G>A	ENSP00000308315:p.Arg166Gln					PODN_ENST00000471210.1_3'UTR|PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.R166Q	p.R147Q	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			5	781	+			118					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.440G>A	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606209	0.87157	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.56941	0.43;0.43	5.18	5.18	0.71444	.	0.055186	0.64402	D	0.000002	T	0.54062	0.1835	N	0.21282	0.65	0.80722	D	1	D;P	0.65815	0.995;0.87	P;B	0.59115	0.852;0.355	T	0.43426	-0.9392	10	0.17832	T	0.49	.	17.6222	0.88085	0.0:0.0:1.0:0.0	.	147;166	Q7Z5L7-2;Q7Z5L7-3	.;.	Q	147;166	ENSP00000360555:R147Q;ENSP00000308315:R166Q	ENSP00000308315:R166Q	R	+	2	0	PODN	53309835	0.988000	0.35896	0.993000	0.49108	0.973000	0.67179	5.272000	0.65559	2.688000	0.91661	0.655000	0.94253	CGG		0.637	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		4	16	0	0	0	0.184627	0	4	16				
TPD52L1	7164	broad.mit.edu	37	6	125569434	125569434	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr6:125569434G>A	ENST00000534000.1	+	4	587	c.291G>A	c.(289-291)aaG>aaA	p.K97K	TPD52L1_ENST00000392482.2_Silent_p.K68K|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.K97K|TPD52L1_ENST00000528193.1_Silent_p.K97K|TPD52L1_ENST00000368388.2_Silent_p.K97K|TPD52L1_ENST00000368402.5_Silent_p.K97K|TPD52L1_ENST00000304877.13_Silent_p.K97K|TPD52L1_ENST00000534199.1_Silent_p.K68K|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000532429.1_Silent_p.K68K|TPD52L1_ENST00000524679.1_Silent_p.K68K	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	97					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTAGCTACAAGAAAACACATG	0.413																																						ENST00000534000.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(289-291)aaG>aaA		tumor protein D52-like 1							103.0	94.0	97.0					6																	125569434		2203	4300	6503	SO:0001819	synonymous_variant	7164				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125569434G>A	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.291G>A	6.37:g.125569434G>A						TPD52L1_ENST00000368402.5_Silent_p.K97K|TPD52L1_ENST00000532429.1_Silent_p.K68K|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.K97K|TPD52L1_ENST00000368388.2_Silent_p.K97K|TPD52L1_ENST00000392482.2_Silent_p.K68K|TPD52L1_ENST00000534199.1_Silent_p.K68K|TPD52L1_ENST00000524679.1_Silent_p.K68K|TPD52L1_ENST00000528193.1_Silent_p.K97K|TPD52L1_ENST00000304877.13_Silent_p.K97K	p.K97K	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	4	587	+			97					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Silent	SNP	ENST00000534000.1	37	c.291G>A	CCDS5130.1																																																																																				0.413	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			5	17	0	0	0	0.217242	0	5	17				
MRPL35	51318	broad.mit.edu	37	2	86433353	86433353	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:86433353C>T	ENST00000337109.4	+	2	202	c.168C>T	c.(166-168)tcC>tcT	p.S56S	MRPL35_ENST00000254644.8_Silent_p.S56S|MRPL35_ENST00000409180.1_Silent_p.S56S|MRPL35_ENST00000605125.1_Silent_p.S56S	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	56					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						TTGTTTCCTCCACTCCCAGAC	0.423																																						ENST00000337109.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						c.(166-168)tcC>tcT		mitochondrial ribosomal protein L35							127.0	124.0	125.0					2																	86433353		2203	4298	6501	SO:0001819	synonymous_variant	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86433353C>T	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.168C>T	2.37:g.86433353C>T						MRPL35_ENST00000409180.1_Silent_p.S56S|MRPL35_ENST00000254644.8_Silent_p.S56S|MRPL35_ENST00000605125.1_Silent_p.S56S	p.S56S	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN			2	202	+			56					A6NKV6|B2RB93|Q658U7|Q8WWA2	Silent	SNP	ENST00000337109.4	37	c.168C>T	CCDS1988.1																																																																																				0.423	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	NM_016622		20	127	0	0	0	0.592651	0	20	127				
CAMTA1	23261	broad.mit.edu	37	1	7737774	7737774	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:7737774C>T	ENST00000303635.7	+	11	3102	c.2895C>T	c.(2893-2895)caC>caT	p.H965H	CAMTA1_ENST00000439411.2_Silent_p.H965H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	965					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTCCCAGCACGACTGGCTGT	0.557			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2893-2895)caC>caT		calmodulin binding transcription activator 1							91.0	82.0	85.0					1																	7737774		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7737774C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2895C>T	1.37:g.7737774C>T						CAMTA1_ENST00000439411.2_Silent_p.H965H	p.H965H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	11	3102	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	965					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2895C>T	CCDS30576.1																																																																																				0.557	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		19	66	0	0	0	0.557998	0	19	66				
SEC61A2	55176	broad.mit.edu	37	10	12197928	12197928	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr10:12197928G>C	ENST00000298428.9	+	7	703	c.614G>C	c.(613-615)aGa>aCa	p.R205T	SEC61A2_ENST00000304267.8_Missense_Mutation_p.R205T|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379033.3_Missense_Mutation_p.R183T|SEC61A2_ENST00000379020.4_Missense_Mutation_p.R205T	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	205					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AACACTGGCAGAGGTACATCG	0.522																																						ENST00000379033.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(547-549)aGa>aCa		Sec61 alpha 2 subunit (S. cerevisiae)							195.0	163.0	174.0					10																	12197928		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12197928G>C	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.614G>C	10.37:g.12197928G>C	ENSP00000298428:p.Arg205Thr					SEC61A2_ENST00000379020.4_Missense_Mutation_p.R205T|SEC61A2_ENST00000304267.8_Missense_Mutation_p.R205T|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.R205T	p.R183T	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			6	695	+		Renal(717;0.228)	205					A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.548G>C	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.151000|4.151000	0.78001|0.78001	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000419021|ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|SecY subunit domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78984|0.78984	0.4370|0.4370	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23806	.|0.05;0.091;0.007	.|B;B;B	.|0.29663	.|0.055;0.101;0.105	T|T	0.77019|0.77019	-0.2743|-0.2743	5|9	.|0.52906	.|T	.|0.07	-9.1809|-9.1809	19.2577|19.2577	0.93952|0.93952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|183;205;205	.|F8W773;Q9H9S3-2;Q9H9S3	.|.;.;S61A2_HUMAN	H|T	86|183;205;205;205	.|.	.|ENSP00000298428:R205T	Q|R	+|+	3|2	2|0	SEC61A2|SEC61A2	12237934|12237934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.835000|9.835000	0.99442|0.99442	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.522	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		15	83	0	0	0	0.500413	0	15	83				
VAV2	7410	broad.mit.edu	37	9	136671217	136671217	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:136671217G>A	ENST00000371850.3	-	9	853	c.822C>T	c.(820-822)ctC>ctT	p.L274L	VAV2_ENST00000406606.3_Silent_p.L269L|VAV2_ENST00000371851.1_Silent_p.L269L	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	274	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCTTGAAATCGAGGAAGACCT	0.587																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(805-807)ctC>ctT		vav 2 guanine nucleotide exchange factor							55.0	43.0	47.0					9																	136671217		2201	4300	6501	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136671217G>A		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.822C>T	9.37:g.136671217G>A						VAV2_ENST00000406606.3_Silent_p.L269L|VAV2_ENST00000371850.3_Silent_p.L274L	p.L269L			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	8	1132	-			274			DH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.807C>T	CCDS48053.1																																																																																				0.587	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			4	36	0	0	0	0.184627	0	4	36				
TP53	7157	broad.mit.edu	37	17	7579912	7579912	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:7579912T>C	ENST00000269305.4	-	2	190	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TP53_ENST00000413465.2_Start_Codon_SNP_p.M1V|TP53_ENST00000359597.4_Start_Codon_SNP_p.M1V|TP53_ENST00000455263.2_Start_Codon_SNP_p.M1V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Start_Codon_SNP_p.M1V|TP53_ENST00000420246.2_Start_Codon_SNP_p.M1V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	1	Interaction with HRMT1L2.|Transcription activation (acidic).				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCTCCTCCATGGCAGTGACC	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		8	Whole gene deletion(8)	p.0?(8)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|stomach(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(1-3)Atg>Gtg	Other conserved DNA damage response genes	tumor protein p53							44.0	40.0	41.0					17																	7579912		2202	4300	6502	SO:0001582	initiator_codon_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579912T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1A>G	17.37:g.7579912T>C	ENSP00000269305:p.Met1Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Start_Codon_SNP_p.M1V|TP53_ENST00000269305.4_Start_Codon_SNP_p.M1V|TP53_ENST00000359597.4_Start_Codon_SNP_p.M1V|TP53_ENST00000445888.2_Start_Codon_SNP_p.M1V|TP53_ENST00000413465.2_Start_Codon_SNP_p.M1V	p.M1V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	2	133	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	1			Interaction with HRMT1L2.|Transcription activation (acidic).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Translation_Start_Site	SNP	ENST00000269305.4	37	c.1A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467220	0.26335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99405	-5.37;-5.84;-5.51;-5.83;-5.83;-5.51;-5.73;-4.25;-2.33	5.2	5.2	0.72013	.	0.086219	0.46442	D	0.000291	D	0.99381	0.9782	.	.	.	0.80722	D	1	P;B;P;B;B;B;P	0.43578	0.462;0.256;0.811;0.378;0.298;0.298;0.779	B;B;P;B;B;B;B	0.60789	0.065;0.058;0.879;0.067;0.036;0.036;0.351	D	0.98448	1.0590	9	0.87932	D	0	-13.5233	11.7475	0.51828	0.0:0.0:0.0:1.0	.	1;1;1;1;1;1;1	E7EMR6;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	1	ENSP00000410739:M1V;ENSP00000352610:M1V;ENSP00000269305:M1V;ENSP00000398846:M1V;ENSP00000391127:M1V;ENSP00000391478:M1V;ENSP00000423862:M1V;ENSP00000424104:M1V;ENSP00000426252:M1V	ENSP00000269305:M1V	M	-	1	0	TP53	7520637	0.995000	0.38212	0.891000	0.34965	0.435000	0.31806	3.031000	0.49728	2.106000	0.64143	0.459000	0.35465	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	8	18	0	0	0	0.307466	0	8	18				
SLC25A32	81034	broad.mit.edu	37	8	104417026	104417026	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:104417026G>A	ENST00000297578.4	-	3	535	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SLC25A32_ENST00000543107.1_Intron|SLC25A32_ENST00000523701.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	123					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CTGAGACAAGGTATTCTGTTG	0.333																																						ENST00000297578.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9						c.(367-369)taC>taT		solute carrier family 25 (mitochondrial folate carrier), member 32	Folic Acid(DB00158)						145.0	117.0	126.0					8																	104417026		2203	4300	6503	SO:0001819	synonymous_variant	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104417026G>A	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.369C>T	8.37:g.104417026G>A						SLC25A32_ENST00000543107.1_Intron	p.Y123Y	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		3	535	-			123					Q96JZ6|Q96SU7	Silent	SNP	ENST00000297578.4	37	c.369C>T	CCDS6300.1																																																																																				0.333	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		6	52	0	0	0	0.278610	0	6	52				
ADAM17	6868	broad.mit.edu	37	2	9676833	9676833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:9676833C>T	ENST00000310823.3	-	3	537	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	ADAM17_ENST00000497134.1_Missense_Mutation_p.V119M	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	119					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TAACCAACCACGTGTCCAGTG	0.428																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(355-357)Gtg>Atg		ADAM metallopeptidase domain 17							178.0	154.0	162.0					2																	9676833		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9676833C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.355G>A	2.37:g.9676833C>T	ENSP00000309968:p.Val119Met					ADAM17_ENST00000497134.1_Missense_Mutation_p.V119M	p.V119M	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	3	537	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		119					O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.355G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530816	0.85706	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.17054	2.3;2.3	5.42	5.42	0.78866	Peptidase M12B, propeptide (1);	0.058549	0.64402	D	0.000002	T	0.45397	0.1340	M	0.78637	2.42	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.997;1.0;0.997	D;P;D;P	0.68943	0.961;0.889;0.961;0.889	T	0.45948	-0.9226	10	0.87932	D	0	.	19.2137	0.93767	0.0:1.0:0.0:0.0	.	119;119;119;119	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	M	119	ENSP00000309968:V119M;ENSP00000418728:V119M	ENSP00000309968:V119M	V	-	1	0	ADAM17	9594284	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.944000	0.70219	2.529000	0.85273	0.585000	0.79938	GTG		0.428	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			7	57	0	0	0	0.278610	0	7	57				
PCDHB12	56124	broad.mit.edu	37	5	140589072	140589072	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:140589072A>T	ENST00000239450.2	+	1	782	c.593A>T	c.(592-594)aAg>aTg	p.K198M	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	198	Cadherin 2. {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(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCTGGACAAGGCGCTGGAT	0.488																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(592-594)aAg>aTg									66.0	66.0	66.0					5																	140589072		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589072A>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.593A>T	5.37:g.140589072A>T	ENSP00000239450:p.Lys198Met					PCDHB12_ENST00000541609.1_Intron	p.K198M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	782	+			198			Cadherin 2.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.593A>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.248734	0.22880	.	.	ENSG00000120328	ENST00000239450	T	0.57436	0.4	4.29	3.09	0.35607	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73156	0.3551	M	0.93241	3.395	0.42909	D	0.994258	D	0.64830	0.994	D	0.64687	0.928	T	0.73458	-0.3976	9	0.87932	D	0	.	5.7643	0.18217	0.7403:0.1712:0.0885:0.0	.	198	Q9Y5F1	PCDBC_HUMAN	M	198	ENSP00000239450:K198M	ENSP00000239450:K198M	K	+	2	0	PCDHB12	140569256	0.002000	0.14202	0.005000	0.12908	0.001000	0.01503	1.701000	0.37825	0.596000	0.29794	-0.438000	0.05819	AAG		0.488	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		14	56	0	0	0	0.479597	0	14	56				
HDAC5	10014	broad.mit.edu	37	17	42155928	42155928	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:42155928G>A	ENST00000393622.2	-	26	3600	c.3269C>T	c.(3268-3270)gCc>gTc	p.A1090V	HDAC5_ENST00000336057.5_Missense_Mutation_p.A1005V|HDAC5_ENST00000586802.1_Missense_Mutation_p.A1090V|HDAC5_ENST00000225983.6_Missense_Mutation_p.A1091V	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1090					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CGACAGCAAGGCCATGGCGCT	0.692																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(3271-3273)gCc>gTc		histone deacetylase 5							78.0	89.0	85.0					17																	42155928		2203	4299	6502	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42155928G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.3269C>T	17.37:g.42155928G>A	ENSP00000377244:p.Ala1090Val					HDAC5_ENST00000586802.1_Missense_Mutation_p.A1090V|HDAC5_ENST00000336057.5_Missense_Mutation_p.A1005V|HDAC5_ENST00000393622.2_Missense_Mutation_p.A1090V	p.A1091V			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	26	3595	-		Breast(137;0.00637)|Prostate(33;0.0313)	1090					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.3272C>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	36	5.750573	0.96890	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.60548	0.18;0.18;0.71	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.78422	-0.2210	10	0.72032	D	0.01	-16.5325	17.8498	0.88742	0.0:0.0:1.0:0.0	.	1005;1091;1090	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	V	1091;1090;1005	ENSP00000225983:A1091V;ENSP00000377244:A1090V;ENSP00000337290:A1005V	ENSP00000225983:A1091V	A	-	2	0	HDAC5	39511454	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.504000	0.84457	0.655000	0.94253	GCC		0.692	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		16	143	0	0	0	0.592651	0	16	143				
RUNX1T1	862	broad.mit.edu	37	8	93029589	93029589	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:93029589G>T	ENST00000523629.1	-	3	545	c.91C>A	c.(91-93)Cgt>Agt	p.R31S	RUNX1T1_ENST00000360348.2_5'UTR|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R42S|RUNX1T1_ENST00000520724.1_5'UTR|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R4S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R4S|RUNX1T1_ENST00000521553.1_5'UTR|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R31S|RUNX1T1_ENST00000422361.2_5'UTR	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	31		Breakpoint for translocation to form AML1-MTG8 in AML-M2.			fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCAGTACGATCTGGAGGA	0.448																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(91-93)Cgt>Agt		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							139.0	115.0	123.0					8																	93029589		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93029589G>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.91C>A	8.37:g.93029589G>T	ENSP00000428543:p.Arg31Ser					RUNX1T1_ENST00000521553.1_5'UTR|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R31S|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R4S|RUNX1T1_ENST00000422361.2_5'UTR|RUNX1T1_ENST00000360348.2_5'UTR|RUNX1T1_ENST00000520724.1_5'UTR|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R42S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R4S	p.R31S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		3	545	-			31				Breakpoint for translocation to form AML1-MTG8 in AML-M2.	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.91C>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219892	0.79464	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000436581;ENST00000518844;ENST00000518992;ENST00000519847;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520583;ENST00000523168;ENST00000518823;ENST00000518317;ENST00000521375;ENST00000520974;ENST00000518954;ENST00000519061;ENST00000520428	T;T;T;T;T;T	0.46819	1.45;1.43;1.45;1.48;1.43;0.86	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	L	0.34521	1.04	0.80722	D	1	P;P;P	0.41080	0.723;0.737;0.489	B;B;B	0.42386	0.386;0.163;0.28	T	0.44922	-0.9296	10	0.66056	D	0.02	-13.1669	20.5632	0.99335	0.0:0.0:1.0:0.0	.	42;31;4	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	S	31;4;31;42;4;31;31;31;31;4;31;31;4;4;31;31;31;4;31	ENSP00000428543:R31S;ENSP00000379520:R4S;ENSP00000265814:R31S;ENSP00000402257:R42S;ENSP00000430728:R4S;ENSP00000431094:R31S	ENSP00000265814:R31S	R	-	1	0	RUNX1T1	93098765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.937000	0.99478	0.650000	0.86243	CGT		0.448	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		9	66	1	0	3.86212e-05	0.361761	4.14373e-05	9	66				
FAM27L	284123	broad.mit.edu	37	17	21826393	21826393	+	lincRNA	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:21826393C>A	ENST00000426869.3	+	0	576					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		TCTGTCCTCCCTCTTACTCTG	0.547																																						ENST00000426869.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14								family with sequence similarity 27-like																																						284123							g.chr17:21826393C>A	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21826393C>A								NR_028336.1					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	0	576	+									RNA	SNP	ENST00000426869.3	37																																																																																						0.547	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		5	7	1	0	0.000602214	0.184627	0.000629727	5	7				
GYPB	2994	broad.mit.edu	37	4	144920591	144920591	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr4:144920591G>C	ENST00000502664.1	-	3	199	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	GYPB_ENST00000513128.1_Missense_Mutation_p.Q17E|GYPB_ENST00000429670.2_Missense_Mutation_p.Q50E|GYPB_ENST00000510196.2_5'UTR|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000283126.7_Missense_Mutation_p.Q50E	NM_002100.4	NP_002091	P06028	GLPB_HUMAN	glycophorin B (MNS blood group)	50						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TGGACAAGTTGTCCCGTTTCT	0.328																																						ENST00000283126.7																			0				breast(1)|large_intestine(2)|skin(1)	4						c.(148-150)Caa>Gaa		glycophorin B (MNS blood group)							50.0	55.0	53.0					4																	144920591		2184	4300	6484	SO:0001583	missense	2994							g.chr4:144920591G>C		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000502664.1:c.148C>G	4.37:g.144920591G>C	ENSP00000427690:p.Gln50Glu					GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000513128.1_Missense_Mutation_p.Q17E|GYPB_ENST00000502664.1_Missense_Mutation_p.Q50E|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000429670.2_Missense_Mutation_p.Q50E	p.Q50E							3	203	-	all_hematologic(180;0.158)							B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000502664.1	37	c.148C>G	CCDS54809.1	.	.	.	.	.	.	.	.	.	.	G	8.550	0.875232	0.17395	.	.	ENSG00000250361	ENST00000283126;ENST00000502664;ENST00000513128;ENST00000429670	T;T;T;T	0.16073	2.37;2.37;2.37;3.35	1.92	-0.0594	0.13793	.	0.195258	0.25427	N	0.030753	T	0.09730	0.0239	.	.	.	0.09310	N	1	P	0.46952	0.887	B	0.39152	0.292	T	0.20840	-1.0263	9	0.51188	T	0.08	.	3.1177	0.06380	0.1861:0.2853:0.5287:0.0	.	50	E2QBW7	.	E	50;50;17;50	ENSP00000283126:Q50E;ENSP00000427690:Q50E;ENSP00000425244:Q17E;ENSP00000394200:Q50E	ENSP00000283126:Q50E	Q	-	1	0	GYPB	145140041	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.045000	0.12003	-0.046000	0.13446	0.298000	0.19748	CAA		0.328	GYPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364791.1	NM_002100		5	6	0	0	0	0.184627	0	5	6				
TCHH	7062	broad.mit.edu	37	1	152080820	152080820	+	Missense_Mutation	SNP	C	C	T	rs199684586	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:152080820C>T	ENST00000368804.1	-	2	4872	c.4873G>A	c.(4873-4875)Gaa>Aaa	p.E1625K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1625	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGCTGTTCGTCTTCGCGG	0.597																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4873-4875)Gaa>Aaa		trichohyalin							70.0	70.0	70.0					1																	152080820		1921	4133	6054	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080820C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4873G>A	1.37:g.152080820C>T	ENSP00000357794:p.Glu1625Lys						p.E1625K	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4872	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1625			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4873G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496465	0.26861	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	4.17	-0.19	0.13256	.	.	.	.	.	T	0.01061	0.0035	L	0.39397	1.21	0.09310	N	1	B	0.28760	0.221	B	0.22753	0.041	T	0.46652	-0.9176	9	0.07325	T	0.83	.	4.0988	0.10004	0.0:0.3247:0.3764:0.2989	.	1625	Q07283	TRHY_HUMAN	K	1625	ENSP00000357794:E1625K	ENSP00000357794:E1625K	E	-	1	0	TCHH	150347444	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.127000	0.15790	0.395000	0.25257	0.467000	0.42956	GAA		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		14	99	0	0	0	0.435327	0	14	99				
CNOT3	4849	broad.mit.edu	37	19	54656252	54656252	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:54656252G>T	ENST00000406403.1	+	14	3396	c.1793G>T	c.(1792-1794)gGt>gTt	p.G598V	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.G598V|CNOT3_ENST00000358389.3_Missense_Mutation_p.G417V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	598	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGTCGCTGGGTGTCTGTCCA	0.632																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1792-1794)gGt>gTt		CCR4-NOT transcription complex, subunit 3							67.0	72.0	70.0					19																	54656252		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54656252G>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1793G>T	19.37:g.54656252G>T	ENSP00000383954:p.Gly598Val					CNOT3_ENST00000358389.3_Missense_Mutation_p.G417V|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.G598V	p.G598V			O75175	CNOT3_HUMAN			14	3396	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		598			Pro-rich.		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.1793G>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975140	0.74360	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403	T;T	0.51325	0.71;0.71	4.32	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;0.982;0.996	P;D;P;P	0.91635	0.834;0.999;0.834;0.896	T	0.67734	-0.5594	10	0.72032	D	0.01	-22.3066	11.6459	0.51261	0.0902:0.0:0.9098:0.0	.	598;417;598;522	B7Z6J7;O75175-3;O75175;Q6ZMJ6	.;.;CNOT3_HUMAN;.	V	598;417;598	ENSP00000221232:G598V;ENSP00000383954:G598V	ENSP00000221232:G598V	G	+	2	0	CNOT3	59348064	1.000000	0.71417	0.586000	0.28679	0.909000	0.53808	8.845000	0.92153	0.938000	0.37419	0.655000	0.94253	GGT		0.632	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		8	83	1	0	3.09899e-07	0.307466	3.43221e-07	8	83				
MINOS1	440574	broad.mit.edu	37	1	19950057	19950057	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:19950057C>G	ENST00000322753.6	+	3	258	c.202C>G	c.(202-204)Cta>Gta	p.L68V	MINOS1-NBL1_ENST00000602662.1_Intron|MINOS1_ENST00000486890.1_3'UTR	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	MIC10_HUMAN	mitochondrial inner membrane organizing system 1	68						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)											TCCATATCTTCTACATGGAAA	0.388																																						ENST00000322753.6																			0											c.(202-204)Cta>Gta		mitochondrial inner membrane organizing system 1							129.0	125.0	127.0					1																	19950057		2203	4300	6503	SO:0001583	missense	440574					integral to membrane|mitochondrion		g.chr1:19950057C>G	AK094318	CCDS30620.1, CCDS72719.1	1p36.13	2013-10-11	2011-10-04	2011-10-04	ENSG00000173436	ENSG00000173436			32068	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 151"""	C1orf151		21944719	Standard	NM_001032363		Approved	RP5-1056L3.2, FLJ36999, MIO10	uc021ohu.1	Q5TGZ0	OTTHUMG00000002712	ENST00000322753.6:c.202C>G	1.37:g.19950057C>G	ENSP00000325562:p.Leu68Val					MINOS1-NBL1_ENST00000602662.1_Intron|MINOS1_ENST00000486890.1_3'UTR	p.L68V	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	CA151_HUMAN			3	258	+			68					Q96G68	Missense_Mutation	SNP	ENST00000322753.6	37	c.202C>G	CCDS30620.1	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016734	0.19355	.	.	ENSG00000173436	ENST00000322753	.	.	.	5.74	3.7	0.42460	.	0.246767	0.34338	N	0.004042	T	0.45216	0.1331	.	.	.	0.42899	D	0.994227	B	0.28350	0.208	B	0.20384	0.029	T	0.43261	-0.9402	8	0.38643	T	0.18	-2.3899	13.0207	0.58784	0.0:0.6904:0.3096:0.0	.	68	Q5TGZ0	MOS1_HUMAN	V	68	.	ENSP00000325562:L68V	L	+	1	2	C1orf151	19822644	0.991000	0.36638	1.000000	0.80357	0.713000	0.41058	1.399000	0.34566	1.365000	0.46057	0.655000	0.94253	CTA		0.388	MINOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007697.2	NM_001032363		16	133	0	0	0	0.500413	0	16	133				
PYDC1	260434	broad.mit.edu	37	16	31228221	31228221	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr16:31228221C>T	ENST00000302964.3	-	1	459	c.129G>A	c.(127-129)gcG>gcA	p.A43A	PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	43	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCTGCCCGAGCGCGCCCCGCG	0.647																																						ENST00000302964.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(127-129)gcG>gcA		PYD (pyrin domain) containing 1							64.0	59.0	61.0					16																	31228221		2197	4300	6497	SO:0001819	synonymous_variant	260434				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding	g.chr16:31228221C>T		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.129G>A	16.37:g.31228221C>T						TRIM72_ENST00000322122.3_Intron	p.A43A	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN			1	459	-			43			DAPIN.		B2R8L4|Q8NFP8	Silent	SNP	ENST00000302964.3	37	c.129G>A	CCDS10710.1																																																																																				0.647	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		5	64	0	0	0	0.184627	0	5	64				
CCDC183	84960	broad.mit.edu	37	9	139701235	139701235	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:139701235C>T	ENST00000338005.6	+	12	1340	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000311502.7_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		435										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCAACACCCTCGATTTGAACA	0.632																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(1303-1305)ctC>ctT		KIAA1984							41.0	47.0	45.0					9																	139701235		2129	4243	6372	SO:0001819	synonymous_variant	84960							g.chr9:139701235C>T																												ENST00000338005.6:c.1305C>T	9.37:g.139701235C>T						KIAA1984-AS1_ENST00000414656.1_RNA	p.L435L	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	12	1340	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	435					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	ENST00000338005.6	37	c.1305C>T	CCDS43906.1																																																																																				0.632	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			4	80	0	0	0	0.184627	0	4	80				
PCYOX1L	78991	broad.mit.edu	37	5	148745675	148745675	+	Missense_Mutation	SNP	G	G	T	rs551655169		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:148745675G>T	ENST00000274569.4	+	4	703	c.641G>T	c.(640-642)cGg>cTg	p.R214L	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.R124L	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	214					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTCCTGCGGGCCAGCTAT	0.597																																					Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(370-372)cGg>cTg		prenylcysteine oxidase 1 like							43.0	41.0	42.0					5																	148745675		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148745675G>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.641G>T	5.37:g.148745675G>T	ENSP00000274569:p.Arg214Leu					PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R214L	p.R124L			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	950	+			214					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.371G>T	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292132	0.95546	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.16457	2.34;2.34	5.18	5.18	0.71444	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	M	0.74881	2.28	0.80722	D	1	D;D	0.58620	0.983;0.961	P;P	0.60068	0.868;0.815	T	0.20438	-1.0275	10	0.51188	T	0.08	-30.0131	19.0548	0.93059	0.0:0.0:1.0:0.0	.	124;214	E7EVZ5;Q8NBM8	.;PCYXL_HUMAN	L	214;124	ENSP00000274569:R214L;ENSP00000428512:R124L	ENSP00000274569:R214L	R	+	2	0	PCYOX1L	148725868	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.779000	0.99018	2.593000	0.87608	0.561000	0.74099	CGG		0.597	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		10	35	1	0	0.000673444	0.361761	0.000700654	10	35				
CTTN	2017	broad.mit.edu	37	11	70281210	70281210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:70281210G>T	ENST00000301843.8	+	18	1801	c.1595G>T	c.(1594-1596)gGg>gTg	p.G532V	CTTN_ENST00000538675.1_Missense_Mutation_p.G216V|CTTN_ENST00000376561.3_Missense_Mutation_p.G495V|CTTN_ENST00000346329.3_Missense_Mutation_p.G495V	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	532	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGGTGGCGCGGGGTGTGCAAG	0.617																																						ENST00000346329.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1483-1485)gGg>gTg		cortactin							67.0	61.0	63.0					11																	70281210		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70281210G>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1595G>T	11.37:g.70281210G>T	ENSP00000301843:p.Gly532Val					CTTN_ENST00000376561.3_Missense_Mutation_p.G495V|CTTN_ENST00000538675.1_Missense_Mutation_p.G216V|CTTN_ENST00000301843.8_Missense_Mutation_p.G532V	p.G495V	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	17	1792	+			532	I -> Y (in Ref. 1; AAA58455).		SH3.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.1484G>T	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235849	0.58886	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.60040	0.22;0.22;0.56;0.56;0.56	5.82	4.9	0.64082	Src homology-3 domain (5);	0.177531	0.50627	D	0.000101	T	0.80401	0.4616	M	0.88241	2.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85125	0.0971	10	0.87932	D	0	-40.2824	17.0527	0.86524	0.0:0.127:0.873:0.0	.	216;495;532;495	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	V	495;532;495;216;189	ENSP00000317189:G495V;ENSP00000301843:G532V;ENSP00000365745:G495V;ENSP00000439762:G216V;ENSP00000431421:G189V	ENSP00000301843:G532V	G	+	2	0	CTTN	69958858	1.000000	0.71417	0.837000	0.33122	0.134000	0.20937	9.579000	0.98204	1.443000	0.47586	0.655000	0.94253	GGG		0.617	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		17	62	1	0	0.160694	0.520397	0.163876	17	62				
LHX8	431707	broad.mit.edu	37	1	75622625	75622625	+	Silent	SNP	T	T	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:75622625T>G	ENST00000294638.5	+	9	1522	c.858T>G	c.(856-858)ccT>ccG	p.P286P	LHX8_ENST00000356261.3_Silent_p.P276P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	286					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ACGTCAGTCCTAATCACTCAT	0.512																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(856-858)ccT>ccG		LIM homeobox 8							294.0	261.0	272.0					1																	75622625		2203	4300	6503	SO:0001819	synonymous_variant	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622625T>G	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.858T>G	1.37:g.75622625T>G						LHX8_ENST00000356261.3_Silent_p.P276P	p.P286P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			9	1522	+			286					E9PGE3	Silent	SNP	ENST00000294638.5	37	c.858T>G	CCDS30756.1																																																																																				0.512	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		22	114	0	0	0	0.608945	0	22	114				
ZNF418	147686	broad.mit.edu	37	19	58438294	58438294	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:58438294C>A	ENST00000396147.1	-	4	1546	c.1255G>T	c.(1255-1257)Ggt>Tgt	p.G419C	ZNF418_ENST00000425570.3_Missense_Mutation_p.G440C|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.G419C|ZNF418_ENST00000599852.1_Missense_Mutation_p.G334C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCAGTGTGACCTCGCTGATGG	0.463																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(1255-1257)Ggt>Tgt		zinc finger protein 418							159.0	162.0	161.0					19																	58438294		2203	4300	6503	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438294C>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1255G>T	19.37:g.58438294C>A	ENSP00000379451:p.Gly419Cys					ZNF418_ENST00000425570.3_Missense_Mutation_p.G440C|ZNF418_ENST00000595830.1_Missense_Mutation_p.G419C|ZNF418_ENST00000599852.1_Missense_Mutation_p.G334C|ZNF418_ENST00000600989.1_Intron	p.G419C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1546	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	419					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1255G>T	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	18.88	3.718514	0.68844	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07908	3.15;3.15	2.36	-4.73	0.03259	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	N	0.16201	0.385	0.20821	N	0.999848	P	0.47191	0.891	P	0.54499	0.754	T	0.20438	-1.0275	9	0.72032	D	0.01	.	6.7188	0.23318	0.0:0.1514:0.2587:0.5898	.	419	Q8TF45	ZN418_HUMAN	C	419;440;385	ENSP00000379451:G419C;ENSP00000407039:G440C	ENSP00000379451:G419C	G	-	1	0	ZNF418	63130106	.	.	0.012000	0.15200	0.872000	0.50106	.	.	-1.616000	0.01572	-0.738000	0.03535	GGT		0.463	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		31	151	1	0	6.00712e-18	0.760397	6.83684e-18	31	151				
MT-ND2	4536	broad.mit.edu	37	M	2620	2620	+	5'Flank	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chrM:2620G>A	ENST00000361453.3	+	0	0				MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						gttccttaaatagggacctgt	0.507																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:2620G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2620G>A	Exception_encountered							NR_039705.1						0	950	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.507	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		4	26	0	0	0	0.184627	0	4	26				
ARHGEF17	9828	broad.mit.edu	37	11	73067756	73067756	+	Silent	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:73067756C>G	ENST00000263674.3	+	7	4193	c.3843C>G	c.(3841-3843)ctC>ctG	p.L1281L	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1281					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCCCACAGCTCCAGGCCCCTC	0.572																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(3841-3843)ctC>ctG		Rho guanine nucleotide exchange factor (GEF) 17							106.0	106.0	106.0					11																	73067756		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73067756C>G	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3843C>G	11.37:g.73067756C>G							p.L1281L	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			7	4193	+			1281					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.3843C>G	CCDS8221.1																																																																																				0.572	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		4	60	0	0	0	0.278610	0	4	60				
TYSND1	219743	broad.mit.edu	37	10	71902546	71902546	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr10:71902546G>C	ENST00000287078.6	-	3	1360	c.1361C>G	c.(1360-1362)tCa>tGa	p.S454*	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_Intron	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	454	Serine protease.				protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						AAGGATGCCTGAGGTCACCGA	0.642																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(1360-1362)tCa>tGa		trypsin domain containing 1							66.0	52.0	57.0					10																	71902546		2203	4300	6503	SO:0001587	stop_gained	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71902546G>C	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1361C>G	10.37:g.71902546G>C	ENSP00000287078:p.Ser454*					TYSND1_ENST00000335494.5_Intron|TYSND1_ENST00000494143.1_5'UTR	p.S454*	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			3	1360	-			454			Serine protease.		Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Nonsense_Mutation	SNP	ENST00000287078.6	37	c.1361C>G	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661201	0.96734	.	.	ENSG00000156521	ENST00000287078	.	.	.	5.21	5.21	0.72293	.	0.342200	0.27084	N	0.021020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-6.8444	16.2813	0.82687	0.0:0.0:1.0:0.0	.	.	.	.	X	454	.	ENSP00000287078:S454X	S	-	2	0	TYSND1	71572552	1.000000	0.71417	0.959000	0.39883	0.613000	0.37349	4.041000	0.57339	2.710000	0.92621	0.591000	0.81541	TCA		0.642	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		5	32	0	0	0	0.184627	0	5	32				
SCG2	7857	broad.mit.edu	37	2	224463969	224463969	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:224463969G>T	ENST00000305409.2	-	2	264	c.32C>A	c.(31-33)gCa>gAa	p.A11E		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGACAGGGCTGCTCCAAGCCA	0.408																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(31-33)gCa>gAa		secretogranin II							52.0	57.0	55.0					2																	224463969		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463969G>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.32C>A	2.37:g.224463969G>T	ENSP00000304133:p.Ala11Glu						p.A11E	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	264	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	11					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.32C>A	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059995	0.36373	.	.	ENSG00000171951	ENST00000305409;ENST00000450330;ENST00000421386;ENST00000433889	T;T;T	0.52754	2.54;0.65;0.65	5.59	3.75	0.43078	.	0.494093	0.21637	N	0.071399	T	0.32041	0.0816	L	0.27053	0.805	0.30162	N	0.802073	B	0.16396	0.017	B	0.11329	0.006	T	0.26985	-1.0087	10	0.66056	D	0.02	.	6.4798	0.22057	0.0696:0.1309:0.6637:0.1358	.	11	P13521	SCG2_HUMAN	E	11	ENSP00000304133:A11E;ENSP00000394702:A11E;ENSP00000415468:A11E	ENSP00000304133:A11E	A	-	2	0	SCG2	224172213	1.000000	0.71417	0.870000	0.34147	0.568000	0.35870	2.864000	0.48404	0.798000	0.33994	0.650000	0.86243	GCA		0.408	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		6	56	1	0	0.217242	0.217242	0.220453	6	56				
ZNF148	7707	broad.mit.edu	37	3	124998088	124998088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:124998088G>A	ENST00000360647.4	-	6	948	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.L155F|SLC12A8_ENST00000423114.2_5'Flank|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.L155F|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.L155F	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	155					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTTATTGTAAGGATCTAGTTC	0.308																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(463-465)Ctt>Ttt		zinc finger protein 148							88.0	92.0	91.0					3																	124998088		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124998088G>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.463C>T	3.37:g.124998088G>A	ENSP00000353863:p.Leu155Phe					ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.L155F|ZNF148_ENST00000484491.1_Missense_Mutation_p.L155F|ZNF148_ENST00000492394.1_Missense_Mutation_p.L155F|ZNF148_ENST00000544464.1_Intron	p.L155F	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			6	948	-			155					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.463C>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362766	0.61403	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.03	5.03	0.67393	.	0.061993	0.64402	D	0.000003	T	0.26593	0.0650	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.00431	-1.1743	9	.	.	.	-11.7472	18.5398	0.91023	0.0:0.0:1.0:0.0	.	155	Q9UQR1	ZN148_HUMAN	F	155	ENSP00000353863:L155F;ENSP00000420335:L155F;ENSP00000419322:L155F;ENSP00000420448:L155F	.	L	-	1	0	ZNF148	126480778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.439000	0.80444	2.616000	0.88540	0.585000	0.79938	CTT		0.308	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		31	48	0	0	0	0.750413	0	31	48				
FREM2	341640	broad.mit.edu	37	13	39430346	39430346	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:39430346T>A	ENST00000280481.7	+	12	7225	c.7009T>A	c.(7009-7011)Ttc>Atc	p.F2337I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2337	Calx-beta 5.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGAGAGGCCTTCACTGTTCA	0.403																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7009-7011)Ttc>Atc		FRAS1 related extracellular matrix protein 2							110.0	108.0	109.0					13																	39430346		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39430346T>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7009T>A	13.37:g.39430346T>A	ENSP00000280481:p.Phe2337Ile						p.F2337I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	12	7225	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2337			Calx-beta 5.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7009T>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734703	0.89482	.	.	ENSG00000150893	ENST00000280481	T	0.57273	0.41	5.79	4.62	0.57501	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.965	T	0.82345	-0.0503	10	0.87932	D	0	.	11.656	0.51318	0.0:0.0691:0.0:0.9309	.	2337;2337	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	I	2337	ENSP00000280481:F2337I	ENSP00000280481:F2337I	F	+	1	0	FREM2	38328346	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	8.015000	0.88690	1.028000	0.39785	0.533000	0.62120	TTC		0.403	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		7	66	0	0	0	0.248553	0	7	66				
PCDHB6	56130	broad.mit.edu	37	5	140531980	140531980	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:140531980G>A	ENST00000231136.1	+	1	2142	c.2142G>A	c.(2140-2142)agG>agA	p.R714R	PCDHB6_ENST00000543635.1_Silent_p.R578R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	714					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGCAGGAGGAGCAGGGCGG	0.662																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2140-2142)agG>agA									73.0	87.0	82.0					5																	140531980		2202	4296	6498	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531980G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2142G>A	5.37:g.140531980G>A						PCDHB6_ENST00000543635.1_Silent_p.R578R	p.R714R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2142	+			714					B2R8R9	Silent	SNP	ENST00000231136.1	37	c.2142G>A	CCDS4248.1																																																																																				0.662	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		16	155	0	0	0	0.592651	0	16	155				
TRBC2	28638	broad.mit.edu	37	7	142498971	142498971	+	RNA	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr7:142498971C>G	ENST00000466254.1	+	0	247							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											CTGAGGGTCTCGGCCACCTTC	0.622																																						ENST00000466254.1																			0																				71.0	83.0	79.0					7																	142498971		2042	4171	6213			28638							g.chr7:142498971C>G	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142498971C>G														0	247	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.622	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		11	82	0	0	0	0.387290	0	11	82				
RNF17	56163	broad.mit.edu	37	13	25376549	25376549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:25376549G>C	ENST00000255324.5	+	14	1841	c.1789G>C	c.(1789-1791)Gaa>Caa	p.E597Q	RNF17_ENST00000381921.1_Missense_Mutation_p.E597Q|RNF17_ENST00000255325.6_Missense_Mutation_p.E597Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	597					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGCTAAAGTGGAATTTTTGAA	0.333																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(1789-1791)Gaa>Caa		ring finger protein 17							102.0	107.0	105.0					13																	25376549		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25376549G>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1789G>C	13.37:g.25376549G>C	ENSP00000255324:p.Glu597Gln					RNF17_ENST00000255325.5_Missense_Mutation_p.E598Q|RNF17_ENST00000381921.1_Missense_Mutation_p.E597Q	p.E597Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	14	1841	+		Lung SC(185;0.0225)|Breast(139;0.077)	597					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.1789G>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314909	0.40996	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	T;T;T	0.23147	1.92;1.92;1.92	4.66	2.94	0.34122	.	0.176204	0.37012	N	0.002295	T	0.24122	0.0584	L	0.56769	1.78	0.80722	D	1	B;P	0.38992	0.1;0.653	B;B	0.40199	0.1;0.322	T	0.03157	-1.1066	10	0.14656	T	0.56	.	10.0106	0.41984	0.1692:0.0:0.8308:0.0	.	597;597	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	Q	597;597;456;598	ENSP00000255324:E597Q;ENSP00000371346:E597Q;ENSP00000255325:E598Q	ENSP00000255324:E597Q	E	+	1	0	RNF17	24274549	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	2.941000	0.49011	0.586000	0.29626	-0.216000	0.12614	GAA		0.333	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		6	65	0	0	0	0.217242	0	6	65				
KRT4	3851	broad.mit.edu	37	12	53207700	53207700	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:53207700C>T	ENST00000551956.1	-	1	635	c.143G>A	c.(142-144)gGc>gAc	p.G48D	KRT4_ENST00000293774.4_Missense_Mutation_p.G122D|KRT4_ENST00000458244.2_Missense_Mutation_p.G48D			P19013	K2C4_HUMAN	keratin 4	48	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTTCTGCTGCCAAATCCCCC	0.587																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(142-144)gGc>gAc		keratin 4							102.0	115.0	111.0					12																	53207700		2077	4229	6306	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53207700C>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.143G>A	12.37:g.53207700C>T	ENSP00000448220:p.Gly48Asp					KRT4_ENST00000458244.2_Missense_Mutation_p.G48D|KRT4_ENST00000293774.4_Missense_Mutation_p.G122D	p.G48D			B4DRS2	B4DRS2_HUMAN			1	635	-			48					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.143G>A	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195782	0.78902	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.95205	-1.97;-1.97;-3.64	5.0	5.0	0.66597	.	0.000000	0.48767	D	0.000165	D	0.97751	0.9262	M	0.92026	3.265	0.47441	D	0.99942	.	.	.	.	.	.	D	0.98476	1.0603	8	0.87932	D	0	.	17.348	0.87315	0.0:1.0:0.0:0.0	.	.	.	.	D	48;122;48	ENSP00000448220:G48D;ENSP00000293774:G122D;ENSP00000387904:G48D	ENSP00000293774:G122D	G	-	2	0	KRT4	51493967	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.178000	0.58284	2.705000	0.92388	0.585000	0.79938	GGC		0.587	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		35	103	0	0	0	0.804634	0	35	103				
MYO18B	84700	broad.mit.edu	37	22	26228956	26228956	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr22:26228956C>A	ENST00000407587.2	+	16	3221	c.3052C>A	c.(3052-3054)Ccc>Acc	p.P1018T	MYO18B_ENST00000335473.7_Missense_Mutation_p.P1018T|MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGATCAAAATCCCTCTCAGGT	0.502																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3052-3054)Ccc>Acc		myosin XVIIIB							67.0	70.0	69.0					22																	26228956		1939	4115	6054	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26228956C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3052C>A	22.37:g.26228956C>A	ENSP00000386096:p.Pro1018Thr					MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018T|MYO18B_ENST00000407587.2_Missense_Mutation_p.P1018T	p.P1018T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			16	3302	+			1018			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3052C>A		.	.	.	.	.	.	.	.	.	.	C	11.82	1.753554	0.31046	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.74106	-0.81;-0.81;-0.81	4.76	3.73	0.42828	Myosin head, motor domain (2);	0.275053	0.35646	N	0.003064	T	0.80954	0.4723	M	0.67700	2.07	0.30783	N	0.74182	D;D;D;D	0.65815	0.994;0.995;0.972;0.994	P;D;P;P	0.64506	0.836;0.926;0.742;0.878	T	0.79420	-0.1811	10	0.72032	D	0.01	.	7.6023	0.28083	0.0:0.7433:0.1688:0.088	.	531;1018;1018;1018	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	1018	ENSP00000441229:P1018T;ENSP00000334563:P1018T;ENSP00000386096:P1018T	ENSP00000334563:P1018T	P	+	1	0	MYO18B	24558956	0.404000	0.25328	0.782000	0.31804	0.015000	0.08874	1.097000	0.30988	1.214000	0.43395	-0.300000	0.09419	CCC		0.502	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		10	51	1	0	1.58986e-06	0.361761	1.7514e-06	10	51				
BAZ2B	29994	broad.mit.edu	37	2	160241870	160241870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:160241870G>C	ENST00000392783.2	-	23	3977	c.3482C>G	c.(3481-3483)gCt>gGt	p.A1161G	BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1125G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1127G|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1061G|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCTCCAAGAGCTGTTTTAGC	0.323																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3481-3483)gCt>gGt		bromodomain adjacent to zinc finger domain, 2B							77.0	73.0	75.0					2																	160241870		1826	4081	5907	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160241870G>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3482C>G	2.37:g.160241870G>C	ENSP00000376534:p.Ala1161Gly					BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1127G|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1125G|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1061G	p.A1161G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			23	3977	-			1161					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3482C>G	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524733	0.64747	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.58506	0.39;0.4;0.39;0.33	5.69	5.69	0.88448	.	0.483736	0.15146	U	0.278001	T	0.43722	0.1260	N	0.19112	0.55	0.27219	N	0.959709	B;P	0.46064	0.277;0.872	B;B	0.43413	0.079;0.419	T	0.25012	-1.0144	10	0.21540	T	0.41	-7.3797	10.8437	0.46730	0.1144:0.0:0.8856:0.0	.	1125;1161	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	G	1125;1161;1127;1061	ENSP00000376533:A1125G;ENSP00000376534:A1161G;ENSP00000348087:A1127G;ENSP00000339670:A1061G	ENSP00000339670:A1061G	A	-	2	0	BAZ2B	159950116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.556000	0.53734	2.681000	0.91329	0.655000	0.94253	GCT		0.323	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			4	46	0	0	0	0.184627	0	4	46				
TGFBR2	7048	broad.mit.edu	37	3	30729875	30729875	+	Splice_Site	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:30729875G>A	ENST00000295754.5	+	6	1778		c.e6-1		TGFBR2_ENST00000359013.4_Splice_Site	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)						activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTTCTTCACAGAAGTAAAAGA	0.512																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CS064462	TGFBR2	S		c.e6-1		transforming growth factor, beta receptor II (70/80kDa)							115.0	109.0	111.0					3																	30729875		2203	4300	6503	SO:0001630	splice_region_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30729875G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1397-1G>A	3.37:g.30729875G>A						TGFBR2_ENST00000359013.4_Splice_Site		NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			6	1778	+								B4DTV5|Q15580|Q6DKT6|Q99474	Splice_Site	SNP	ENST00000295754.5	37		CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546474	0.86022	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6346	0.91372	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGFBR2	30704879	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	9.759000	0.98931	2.469000	0.83416	0.591000	0.81541	.		0.512	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2		Intron	15	70	0	0	0	0.479597	0	15	70				
GSDMD	79792	broad.mit.edu	37	8	144644225	144644225	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr8:144644225A>T	ENST00000526406.1	+	11	1803	c.920A>T	c.(919-921)gAg>gTg	p.E307V	GSDMD_ENST00000533063.1_Missense_Mutation_p.E355V|GSDMD_ENST00000262580.4_Missense_Mutation_p.E307V	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	307					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTGGACAGAGAGCTGTGCCAG	0.677																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(919-921)gAg>gTg		gasdermin D							45.0	48.0	47.0					8																	144644225		2202	4300	6502	SO:0001583	missense	79792							g.chr8:144644225A>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.920A>T	8.37:g.144644225A>T	ENSP00000433209:p.Glu307Val					GSDMD_ENST00000533063.1_Missense_Mutation_p.E355V|GSDMD_ENST00000262580.4_Missense_Mutation_p.E307V	p.E307V	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			11	1803	+			307					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.920A>T	CCDS34956.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.77|12.77	2.037260|2.037260	0.35893|0.35893	.|.	.|.	ENSG00000104518|ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580|ENST00000525208	T;T;T|T	0.25250|0.22539	1.81;1.81;1.81|1.95	4.39|4.39	-7.88|-7.88	0.01178|0.01178	.|.	1.264740|.	0.05160|.	N|.	0.497642|.	T|T	0.19087|0.19087	0.0458|0.0458	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	B;P;P|.	0.48998|.	0.44;0.918;0.899|.	B;P;P|.	0.49853|.	0.255;0.624;0.571|.	T|T	0.43294|0.43294	-0.9400|-0.9400	10|7	0.26408|0.87932	T|D	0.33|0	-1.7848|-1.7848	8.4119|8.4119	0.32648|0.32648	0.2398:0.2615:0.4988:0.0|0.2398:0.2615:0.4988:0.0	.|.	307;307;355|.	A8K702;P57764;G3V1A6|.	.;GSDMD_HUMAN;.|.	V|S	307;355;307|2	ENSP00000433209:E307V;ENSP00000433958:E355V;ENSP00000262580:E307V|ENSP00000433263:R2S	ENSP00000262580:E307V|ENSP00000433263:R2S	E|R	+|+	2|3	0|2	GSDMD|GSDMD	144715368|144715368	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.451000|-0.451000	0.06795|0.06795	-1.643000|-1.643000	0.01519|0.01519	-0.463000|-0.463000	0.05309|0.05309	GAG|AGA		0.677	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		24	50	0	0	0	0.681144	0	24	50				
COIL	8161	broad.mit.edu	37	17	55038285	55038285	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:55038285C>G	ENST00000240316.4	-	1	130	c.96G>C	c.(94-96)ttG>ttC	p.L32F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	32						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GGCATCTGTTCAAGTCGACCA	0.587											OREG0024594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(94-96)ttG>ttC		coilin							33.0	37.0	36.0					17																	55038285		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55038285C>G	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.96G>C	17.37:g.55038285C>G	ENSP00000240316:p.Leu32Phe		OREG0024594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1004		p.L32F	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			1	130	-	Breast(9;6.15e-08)		32					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.96G>C	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320543	0.81469	.	.	ENSG00000121058	ENST00000240316	T	0.59772	0.24	4.32	3.35	0.38373	.	0.248174	0.34291	N	0.004085	T	0.63768	0.2539	L	0.53249	1.67	0.40603	D	0.9816	D	0.57571	0.98	P	0.60068	0.868	T	0.63730	-0.6571	10	0.45353	T	0.12	-3.4164	8.4012	0.32588	0.0:0.6861:0.2247:0.0893	.	32	P38432	COIL_HUMAN	F	32	ENSP00000240316:L32F	ENSP00000240316:L32F	L	-	3	2	COIL	52393284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.205000	0.32308	1.183000	0.42943	0.455000	0.32223	TTG		0.587	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			5	33	0	0	0	0.217242	0	5	33				
C19orf18	147685	broad.mit.edu	37	19	58472888	58472888	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:58472888G>A	ENST00000314391.3	-	5	504	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	135						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		AGTGACTCGAGCTGTTGTCTT	0.443																																						ENST00000314391.3																			0				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(403-405)Ctc>Ttc		chromosome 19 open reading frame 18							138.0	124.0	129.0					19																	58472888		2203	4300	6503	SO:0001583	missense	147685					integral to membrane		g.chr19:58472888G>A	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.403C>T	19.37:g.58472888G>A	ENSP00000321519:p.Leu135Phe						p.L135F	NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	5	504	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	135						Missense_Mutation	SNP	ENST00000314391.3	37	c.403C>T	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755178	0.31046	.	.	ENSG00000177025	ENST00000314391	T	0.59772	0.24	4.14	4.14	0.48551	.	0.000000	0.40640	N	0.001042	T	0.64472	0.2601	L	0.34521	1.04	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.55921	-0.8064	10	0.87932	D	0	-5.4811	12.212	0.54386	0.0:0.0:1.0:0.0	.	135	Q8NEA5	CS018_HUMAN	F	135	ENSP00000321519:L135F	ENSP00000321519:L135F	L	-	1	0	C19orf18	63164700	0.680000	0.27605	0.129000	0.21949	0.049000	0.14656	2.041000	0.41213	2.596000	0.87737	0.462000	0.41574	CTC		0.443	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		14	86	0	0	0	0.457914	0	14	86				
NCOR1	9611	broad.mit.edu	37	17	15971267	15971267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:15971267C>T	ENST00000268712.3	-	32	4939	c.4682G>A	c.(4681-4683)cGg>cAg	p.R1561Q	NCOR1_ENST00000395857.3_Missense_Mutation_p.R145Q|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1577Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1561	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.			R -> W (in Ref. 1; AAC33550). {ECO:0000305}.	CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGTGGCTCCGATAAACCTC	0.512																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4681-4683)cGg>cAg		nuclear receptor corepressor 1							87.0	82.0	84.0					17																	15971267		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15971267C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4682G>A	17.37:g.15971267C>T	ENSP00000268712:p.Arg1561Gln					NCOR1_ENST00000395851.1_Missense_Mutation_p.R1577Q|NCOR1_ENST00000395857.3_Missense_Mutation_p.R145Q	p.R1561Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	32	4939	-			1561	R -> W (in Ref. 1; AAC33550).		Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.4682G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138938	0.97315	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.53206	0.63;0.63;0.63	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.993;0.99;0.992;0.996;0.998	T	0.73739	-0.3888	10	0.87932	D	0	-11.3394	19.1813	0.93625	0.0:1.0:0.0:0.0	.	372;1466;1561;1577;82	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	Q	1561;1577;1466;145	ENSP00000268712:R1561Q;ENSP00000379192:R1577Q;ENSP00000379198:R145Q	ENSP00000268712:R1561Q	R	-	2	0	NCOR1	15911992	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.446000	0.60014	2.771000	0.95319	0.563000	0.77884	CGG		0.512	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		18	23	0	0	0	0.539581	0	18	23				
PPP2R5B	5526	broad.mit.edu	37	11	64698016	64698016	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:64698016G>A	ENST00000164133.2	+	8	1468	c.846G>A	c.(844-846)ctG>ctA	p.L282L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	282					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TTCGCGTCCTGATCCCCCTGC	0.612																																						ENST00000164133.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						c.(844-846)ctG>ctA		protein phosphatase 2, regulatory subunit B', beta							184.0	123.0	144.0					11																	64698016		2201	4297	6498	SO:0001819	synonymous_variant	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64698016G>A	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.846G>A	11.37:g.64698016G>A							p.L282L	NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN			8	1468	+			282					Q13853	Silent	SNP	ENST00000164133.2	37	c.846G>A	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135902	0.21123	.	.	ENSG00000068971	ENST00000359279	.	.	.	4.42	1.32	0.21799	.	.	.	.	.	T	0.71074	0.3297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72147	-0.4378	5	0.52906	T	0.07	-15.9812	13.7376	0.62827	0.0:0.4257:0.5743:0.0	.	.	.	.	N	308	.	ENSP00000352225:D308N	D	+	1	0	PPP2R5B	64454592	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.155000	0.31700	0.186000	0.20125	0.650000	0.86243	GAT		0.612	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		7	77	0	0	0	0.248553	0	7	77				
PVRL3	25945	broad.mit.edu	37	3	110845177	110845177	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:110845177T>C	ENST00000485303.1	+	5	1339	c.1064T>C	c.(1063-1065)aTt>aCt	p.I355T	PVRL3_ENST00000493615.1_Missense_Mutation_p.I332T|PVRL3_ENST00000319792.3_Missense_Mutation_p.I355T	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	355					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GTCATCTACATTTCAGGTAAG	0.299																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(1063-1065)aTt>aCt		poliovirus receptor-related 3							76.0	74.0	75.0					3																	110845177		2202	4300	6502	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110845177T>C	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1064T>C	3.37:g.110845177T>C	ENSP00000418070:p.Ile355Thr					PVRL3_ENST00000319792.3_Missense_Mutation_p.I355T|PVRL3_ENST00000493615.1_Missense_Mutation_p.I332T	p.I355T	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			5	1339	+			355					E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.1064T>C	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010416	0.75046	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.16597	2.33;2.33;2.33	5.5	5.5	0.81552	Immunoglobulin-like fold (1);	0.045955	0.85682	D	0.000000	T	0.42040	0.1185	M	0.77313	2.365	0.53688	D	0.999975	D;D	0.65815	0.995;0.99	D;P	0.67725	0.953;0.87	T	0.38672	-0.9650	10	0.87932	D	0	.	13.842	0.63444	0.0:0.0:0.0:1.0	.	332;355	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	T	355;355;332	ENSP00000418070:I355T;ENSP00000321514:I355T;ENSP00000420579:I332T	ENSP00000321514:I355T	I	+	2	0	PVRL3	112327867	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.500000	0.60387	2.209000	0.71365	0.482000	0.46254	ATT		0.299	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		13	42	0	0	0	0.500413	0	13	42				
ZFP69	339559	broad.mit.edu	37	1	40961662	40961662	+	Silent	SNP	C	C	T	rs369939141		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:40961662C>T	ENST00000372706.1	+	6	2518	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.F504F			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GAAAAGCCTTCAGCTATAACT	0.388																																						ENST00000372706.1																			0											c.(1510-1512)ttC>ttT		ZFP69 zinc finger protein		C		1,4405	2.1+/-5.4	0,1,2202	60.0	62.0	62.0		1512	3.6	1.0	1		62	0,8600		0,0,4300	no	coding-synonymous	ZNF642	NM_198494.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		504/527	40961662	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	339559							g.chr1:40961662C>T	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1512C>T	1.37:g.40961662C>T						RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.F504F	p.F504F							6	2518	+								Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.1512C>T	CCDS30686.1																																																																																				0.388	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		21	54	0	0	0	0.575678	0	21	54				
DGKZ	8525	broad.mit.edu	37	11	46400012	46400012	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:46400012G>T	ENST00000454345.1	+	28	3069	c.2944G>T	c.(2944-2946)Gag>Tag	p.E982*	MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.E771*|DGKZ_ENST00000532868.2_Nonsense_Mutation_p.E798*|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.E572*|MDK_ENST00000405308.2_5'Flank|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000543978.1_Nonsense_Mutation_p.E146*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.E760*|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.E793*|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.E810*|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.E794*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.E794*	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	982					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCAGGTGAAGAGCTGATTGA	0.622																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(2944-2946)Gag>Tag		diacylglycerol kinase, zeta							106.0	94.0	98.0					11																	46400012		2202	4299	6501	SO:0001587	stop_gained	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46400012G>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2944G>T	11.37:g.46400012G>T	ENSP00000412178:p.Glu982*					DGKZ_ENST00000527911.1_Nonsense_Mutation_p.E794*|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.E793*|DGKZ_ENST00000543978.1_Nonsense_Mutation_p.E146*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.E794*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.E760*|DGKZ_ENST00000532868.2_Nonsense_Mutation_p.E798*|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.E810*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.E771*|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.E572*	p.E982*	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	28	3069	+			982					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Nonsense_Mutation	SNP	ENST00000454345.1	37	c.2944G>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	38	6.885682	0.97908	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	.	.	.	4.34	3.42	0.39159	.	0.635589	0.16165	N	0.226582	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	7.6123	0.28137	0.0936:0.1666:0.7398:0.0	.	.	.	.	X	810;572;760;759;146;794;793;794;771;982	.	ENSP00000320340:E771X	E	+	1	0	DGKZ	46356588	0.989000	0.36119	1.000000	0.80357	0.993000	0.82548	1.856000	0.39389	1.192000	0.43071	0.561000	0.74099	GAG		0.622	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		9	59	1	0	3.07112e-06	0.387290	3.34736e-06	9	59				
RGPD4	285190	broad.mit.edu	37	2	108475958	108475958	+	Missense_Mutation	SNP	A	A	G	rs142985549	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr2:108475958A>G	ENST00000408999.3	+	11	1659	c.1582A>G	c.(1582-1584)Aga>Gga	p.R528G	RGPD4_ENST00000354986.4_Missense_Mutation_p.R528G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	528					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTGTACAGAAAGACAAAAATC	0.393													N|||	2526	0.504393	0.4077	0.4726	5008	,	,		17731	0.3502		0.6521	False		,,,				2504	0.6646					ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(1582-1584)Aga>Gga		RANBP2-like and GRIP domain containing 4							90.0	78.0	82.0					2																	108475958		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108475958A>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1582A>G	2.37:g.108475958A>G	ENSP00000386810:p.Arg528Gly					RGPD4_ENST00000354986.4_Missense_Mutation_p.R528G	p.R528G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			11	1659	+			528					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1582A>G	CCDS46381.1	1139	0.5215201465201466	232	0.4715447154471545	187	0.5165745856353591	205	0.3583916083916084	515	0.679419525065963	-	3.256	-0.152263	0.06585	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.62232	0.04;0.04	2.6	-0.367	0.12541	.	.	.	.	.	T	0.00012	0.0000	M	0.62723	1.935	0.44388	P	0.002707000000000015	P	0.37781	0.608	B	0.29942	0.109	T	0.44726	-0.9309	8	0.66056	D	0.02	-20.1118	9.3414	0.38082	0.6535:0.3465:0.0:0.0	rs62150198	528	Q7Z3J3	RGPD4_HUMAN	G	528;528;286	ENSP00000347081:R528G;ENSP00000386810:R528G	ENSP00000347081:R528G	R	+	1	2	RGPD4	107842390	1.000000	0.71417	0.227000	0.23927	0.111000	0.19643	4.056000	0.57448	0.080000	0.16959	-1.875000	0.00549	AGA		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		3	92	0	0	0	0.150653	0	3	92				
TCL6	27004	broad.mit.edu	37	14	96134710	96134710	+	RNA	SNP	T	T	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:96134710T>C	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CACAGCAGCATGAAAAACAGG	0.512			T	TRA@	T-ALL																																	ENST00000467865.1				Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		0				large_intestine(1)|lung(7)	8															82.0	72.0	75.0					14																	96134710		2203	4300	6503			27004							g.chr14:96134710T>C	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96134710T>C						RP11-1070N10.6_ENST00000461160.1_RNA							Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	0	1821	+		all_cancers(154;0.103)							RNA	SNP	ENST00000467865.1	37																																																																																						0.512	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		16	65	0	0	0	0.500413	0	16	65				
MAP6D1	79929	broad.mit.edu	37	3	183535851	183535851	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:183535851C>T	ENST00000318631.3	-	2	480	c.450G>A	c.(448-450)aaG>aaA	p.K150K	MAP6D1_ENST00000431348.1_Silent_p.K150K|MAP6D1_ENST00000463801.1_5'Flank	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	150					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|N-terminal peptidyl-L-cysteine N-palmitoylation (GO:0018009)|negative regulation of microtubule depolymerization (GO:0007026)	cis-Golgi network (GO:0005801)|Golgi-associated vesicle (GO:0005798)|microtubule (GO:0005874)				endometrium(1)|lung(1)	2	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGGTTTTGTCTTTGTGGATC	0.582																																						ENST00000318631.3																			0				endometrium(1)|lung(1)	2						c.(448-450)aaG>aaA		MAP6 domain containing 1							140.0	118.0	126.0					3																	183535851		2203	4300	6503	SO:0001819	synonymous_variant	79929					cytoskeleton		g.chr3:183535851C>T	BC006434	CCDS3247.1	3q27.1	2005-12-22			ENSG00000180834	ENSG00000180834			25753	protein-coding gene	gene with protein product		610593				12477932	Standard	NM_024871		Approved	FLJ12748	uc003fmc.2	Q9H9H5	OTTHUMG00000156900	ENST00000318631.3:c.450G>A	3.37:g.183535851C>T						MAP6D1_ENST00000431348.1_Silent_p.K150K	p.K150K	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		2	480	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		150						Silent	SNP	ENST00000318631.3	37	c.450G>A	CCDS3247.1																																																																																				0.582	MAP6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346516.1	NM_024871		11	112	0	0	0	0.361761	0	11	112				
ZNF615	284370	broad.mit.edu	37	19	52506950	52506950	+	Splice_Site	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:52506950C>T	ENST00000602063.1	-	3	364	c.15G>A	c.(13-15)caG>caA	p.Q5Q	ZNF615_ENST00000597747.1_Splice_Site_p.Q5Q|ZNF615_ENST00000598071.1_Splice_Site_p.Q5Q|ZNF615_ENST00000595114.1_5'Flank|ZNF615_ENST00000376716.5_Splice_Site_p.Q5Q|ZNF615_ENST00000391795.3_Intron|ZNF615_ENST00000594083.1_Splice_Site_p.Q5Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CAAAAGTCACCTGGGCCTGCA	0.333																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.e3+1		zinc finger protein 615							150.0	145.0	146.0					19																	52506950		2203	4300	6503	SO:0001630	splice_region_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52506950C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.15+1G>A	19.37:g.52506950C>T						ZNF615_ENST00000598071.1_Splice_Site_p.Q5_splice|ZNF615_ENST00000597747.1_Splice_Site_p.Q5_splice|ZNF615_ENST00000391795.3_Intron|ZNF615_ENST00000376716.5_Splice_Site_p.Q5_splice|ZNF615_ENST00000594083.1_Splice_Site_p.Q5_splice	p.Q5_splice			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	3	364	-		all_neural(266;0.117)	5					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Splice_Site	SNP	ENST00000602063.1	37	c.15_splice	CCDS12846.1																																																																																				0.333	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	Silent	6	49	0	0	0	0.278610	0	6	49				
TUB	7275	broad.mit.edu	37	11	8118955	8118955	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:8118955C>T	ENST00000299506.2	+	7	1017	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	TUB_ENST00000305253.4_Missense_Mutation_p.R345C|TUB_ENST00000534099.1_Missense_Mutation_p.R296C	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	290					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCACCTGGACCGTGAGGATGG	0.542																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1033-1035)Cgt>Tgt		tubby bipartite transcription factor							88.0	81.0	83.0					11																	8118955		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8118955C>T	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.868C>T	11.37:g.8118955C>T	ENSP00000299506:p.Arg290Cys					TUB_ENST00000299506.2_Missense_Mutation_p.R290C|TUB_ENST00000534099.1_Missense_Mutation_p.R296C	p.R345C	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	8	1274	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	290					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.1033C>T	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190030	0.58017	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86097	-2.07;-2.07;-2.07	4.57	3.62	0.41486	Tubby, C-terminal (3);	0.049129	0.85682	D	0.000000	D	0.90225	0.6944	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74023	0.912;0.982;0.945	D	0.90606	0.4548	10	0.66056	D	0.02	2.1734	12.2934	0.54831	0.3675:0.6325:0.0:0.0	.	296;290;345	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	C	296;345;290	ENSP00000434400:R296C;ENSP00000305426:R345C;ENSP00000299506:R290C	ENSP00000299506:R290C	R	+	1	0	TUB	8075531	1.000000	0.71417	0.962000	0.40283	0.932000	0.56968	5.212000	0.65225	1.218000	0.43458	0.585000	0.79938	CGT		0.542	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		11	92	0	0	0	0.387290	0	11	92				
ATAD3A	55210	broad.mit.edu	37	1	1455561	1455561	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:1455561G>A	ENST00000378755.5	+	6	793	c.699G>A	c.(697-699)gaG>gaA	p.E233E	ATAD3A_ENST00000536055.1_Silent_p.E106E|ATAD3A_ENST00000378756.3_Silent_p.E185E	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	233					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACAAGAATGAGATGCTGCGAG	0.687																																						ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(697-699)gaG>gaA		ATPase family, AAA domain containing 3A							27.0	30.0	29.0					1																	1455561		2202	4298	6500	SO:0001819	synonymous_variant	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1455561G>A	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.699G>A	1.37:g.1455561G>A						ATAD3A_ENST00000536055.1_Silent_p.E106E|ATAD3A_ENST00000378756.3_Silent_p.E185E	p.E233E	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	6	793	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	233					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Silent	SNP	ENST00000378755.5	37	c.699G>A	CCDS31.1	.	.	.	.	.	.	.	.	.	.	g	1.020	-0.685301	0.03328	.	.	ENSG00000197785	ENST00000339113	.	.	.	4.15	2.22	0.28083	.	.	.	.	.	T	0.54351	0.1853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43475	-0.9389	4	.	.	.	.	6.5655	0.22509	0.1671:0.0:0.6885:0.1444	.	.	.	.	N	171	.	.	D	+	1	0	ATAD3A	1445424	1.000000	0.71417	0.951000	0.38953	0.030000	0.12068	1.485000	0.35519	0.317000	0.23160	0.561000	0.74099	GAT		0.687	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		3	24	0	0	0	0.150653	0	3	24				
FAM73B	84895	broad.mit.edu	37	9	131830488	131830488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr9:131830488G>A	ENST00000358369.4	+	13	1507	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	427					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TGGTATGCATGAGCTTCTTCG	0.647																																						ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(1279-1281)atG>atA		family with sequence similarity 73, member B							116.0	102.0	107.0					9																	131830488		2203	4300	6503	SO:0001583	missense	84895					integral to membrane		g.chr9:131830488G>A	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1281G>A	9.37:g.131830488G>A	ENSP00000351138:p.Met427Ile					FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	p.M427I	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			13	1507	+			427					Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	ENST00000358369.4	37	c.1281G>A	CCDS6917.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557745	0.86231	.	.	ENSG00000148343	ENST00000358369	T	0.26373	1.74	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.50333	1.59	0.80722	D	1	D;B	0.59357	0.985;0.437	D;B	0.72338	0.977;0.349	T	0.10154	-1.0642	10	0.25106	T	0.35	-31.0424	17.967	0.89102	0.0:0.0:1.0:0.0	.	491;427	B4DZP8;Q7L4E1	.;FA73B_HUMAN	I	427	ENSP00000351138:M427I	ENSP00000351138:M427I	M	+	3	0	FAM73B	130870309	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.203000	0.95033	2.491000	0.84063	0.561000	0.74099	ATG		0.647	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		33	151	0	0	0	0.796494	0	33	151				
SMG6	23293	broad.mit.edu	37	17	1972199	1972199	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:1972199C>T	ENST00000263073.6	-	16	3758	c.3708G>A	c.(3706-3708)atG>atA	p.M1236I	SMG6_ENST00000544865.1_Missense_Mutation_p.M1205I|SMG6_ENST00000354901.4_Missense_Mutation_p.M328I|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000536871.2_Missense_Mutation_p.M328I	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1236					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCATCTGCCTCATCTGACTGT	0.592																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3613-3615)atG>atA		SMG6 nonsense mediated mRNA decay factor							114.0	85.0	95.0					17																	1972199		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:1972199C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3708G>A	17.37:g.1972199C>T	ENSP00000263073:p.Met1236Ile					SMG6_ENST00000354901.4_Missense_Mutation_p.M328I|SMG6_ENST00000536871.2_Missense_Mutation_p.M328I|SMG6_ENST00000263073.5_Missense_Mutation_p.M1236I|SMG6_ENST00000573166.1_5'UTR	p.M1205I			Q86US8	EST1A_HUMAN			16	4125	-			1236					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.3615G>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017985	0.35606	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.16597	3.15;3.15;2.33	5.98	5.98	0.97165	.	0.254594	0.42420	D	0.000714	T	0.11580	0.0282	N	0.14661	0.345	0.37127	D	0.901086	B	0.10296	0.003	B	0.06405	0.002	T	0.12656	-1.0539	10	0.40728	T	0.16	-10.7316	13.6313	0.62196	0.0:0.9295:0.0:0.0705	.	1236	Q86US8	EST1A_HUMAN	I	1236;1205;147;328	ENSP00000263073:M1236I;ENSP00000443920:M1205I;ENSP00000440283:M328I	ENSP00000263073:M1236I	M	-	3	0	SMG6	1918949	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.305000	0.65750	2.847000	0.97988	0.591000	0.81541	ATG		0.592	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			5	21	0	0	0	0.184627	0	5	21				
PHEX	5251	broad.mit.edu	37	X	22095598	22095598	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chrX:22095598G>A	ENST00000379374.4	+	5	1006	c.441G>A	c.(439-441)gcG>gcA	p.A147A	PHEX_ENST00000537599.1_Silent_p.A147A|PHEX_ENST00000535894.1_Silent_p.A50A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	147					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A147A(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTCAGAAGCGATTGAAAAAG	0.438																																						ENST00000379374.4																			1	Substitution - coding silent(1)	p.A147A(1)	endometrium(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(439-441)gcG>gcA		phosphate regulating endopeptidase homolog, X-linked							131.0	124.0	126.0					X																	22095598		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22095598G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.441G>A	X.37:g.22095598G>A						PHEX_ENST00000537599.1_Silent_p.A147A|PHEX_ENST00000535894.1_Silent_p.A50A	p.A147A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			5	1006	+			147					O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.441G>A	CCDS14204.1																																																																																				0.438	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		25	59	0	0	0	0.639603	0	25	59				
LRRC37A	9884	broad.mit.edu	37	17	44408471	44408471	+	Silent	SNP	C	C	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:44408471C>A	ENST00000320254.5	+	9	3831	c.3828C>A	c.(3826-3828)acC>acA	p.T1276T	ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000496930.1_Silent_p.T314T|ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000393465.3_Silent_p.T1276T	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1276						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AAGACTTAACCCACGCTATTT	0.458																																						ENST00000320254.5																			0				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11						c.(3826-3828)acC>acA		leucine rich repeat containing 37A							47.0	30.0	39.0					17																	44408471		1821	1920	3741	SO:0001819	synonymous_variant	9884					integral to membrane		g.chr17:44408471C>A	BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.3828C>A	17.37:g.44408471C>A						ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000575960.1_Intron|ARL17B_ENST00000575698.1_Intron|LRRC37A_ENST00000496930.1_Silent_p.T314T|LRRC37A_ENST00000393465.3_Silent_p.T1276T|ARL17B_ENST00000434041.2_Intron	p.T1276T	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	9	3831	+		Melanoma(429;0.211)	1276					Q68DY2|Q8IWC7	Silent	SNP	ENST00000320254.5	37	c.3828C>A	CCDS11504.2																																																																																				0.458	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313519.3	NM_014834		23	69	1	0	0.000295444	0.624587	0.00031211	23	69				
ZFYVE1	53349	broad.mit.edu	37	14	73448574	73448574	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr14:73448574G>A	ENST00000556143.1	-	5	1953	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	ZFYVE1_ENST00000394207.2_5'UTR|ZFYVE1_ENST00000554145.1_5'Flank|ZFYVE1_ENST00000553891.1_Silent_p.I411I|ZFYVE1_ENST00000318876.5_Silent_p.I411I|ZFYVE1_ENST00000555072.1_5'UTR	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	411					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGTCATCGGGGATCTCACCGC	0.577																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(1231-1233)atC>atT		zinc finger, FYVE domain containing 1							89.0	76.0	81.0					14																	73448574		2203	4300	6503	SO:0001819	synonymous_variant	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73448574G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1233C>T	14.37:g.73448574G>A						ZFYVE1_ENST00000555072.1_5'UTR|ZFYVE1_ENST00000553891.1_Silent_p.I411I|ZFYVE1_ENST00000394207.2_5'UTR|ZFYVE1_ENST00000318876.5_Silent_p.I411I	p.I411I	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	5	1953	-		all_lung(585;1.33e-09)	411					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	c.1233C>T	CCDS9811.1																																																																																				0.577	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		5	79	0	0	0	0.217242	0	5	79				
CNGA4	1262	broad.mit.edu	37	11	6261477	6261477	+	Silent	SNP	C	C	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:6261477C>T	ENST00000379936.2	+	4	568	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	151					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.F151F(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGCCTCTTCGAGGCCTTCG	0.592																																						ENST00000379936.2																			1	Substitution - coding silent(1)	p.F151F(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(451-453)ttC>ttT		cyclic nucleotide gated channel alpha 4							74.0	82.0	79.0					11																	6261477		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261477C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.453C>T	11.37:g.6261477C>T						CNGA4_ENST00000533426.1_Intron	p.F151F	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	568	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	151						Silent	SNP	ENST00000379936.2	37	c.453C>T	CCDS31408.1																																																																																				0.592	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		5	165	0	0	0	0.184627	0	5	165				
IGSF9B	22997	broad.mit.edu	37	11	133789939	133789939	+	Silent	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:133789939G>A	ENST00000321016.8	-	18	3911	c.3681C>T	c.(3679-3681)ggC>ggT	p.G1227G	IGSF9B_ENST00000533871.2_Silent_p.G1227G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1227	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGCAGGAGGCCCGGGCGAG	0.687																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3679-3681)ggC>ggT		immunoglobulin superfamily, member 9B							19.0	24.0	23.0					11																	133789939		1830	4048	5878	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133789939G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3681C>T	11.37:g.133789939G>A						IGSF9B_ENST00000533871.2_Silent_p.G1227G	p.G1227G			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3911	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1227			Pro-rich.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.3681C>T																																																																																					0.687	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		10	36	0	0	0	0.361761	0	10	36				
ZNF358	140467	broad.mit.edu	37	19	7584186	7584186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:7584186G>A	ENST00000597229.1	+	2	228	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	CTD-2207O23.12_ENST00000599312.1_3'UTR|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.E20K	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	20					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						ACCCGTTTATGAAGAGCTCGA	0.577																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(58-60)Gaa>Aaa		zinc finger protein 358							59.0	67.0	64.0					19																	7584186		2164	4283	6447	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584186G>A	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.58G>A	19.37:g.7584186G>A	ENSP00000472305:p.Glu20Lys					ZNF358_ENST00000394341.2_Missense_Mutation_p.E20K|CTD-2207O23.12_ENST00000599312.1_3'UTR	p.E20K	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN			2	228	+			20					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.58G>A	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	9.266	1.044391	0.19748	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.06933	3.24	4.53	2.37	0.29283	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.45948	-0.9226	9	0.06236	T	0.91	-0.4107	4.4733	0.11722	0.1956:0.0:0.6265:0.1779	.	20	Q9NW07	ZN358_HUMAN	K	20	ENSP00000377873:E20K	ENSP00000354703:E20K	E	+	1	0	ZNF358	7490186	0.031000	0.19500	0.002000	0.10522	0.145000	0.21501	2.110000	0.41873	0.614000	0.30107	0.558000	0.71614	GAA		0.577	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			10	109	0	0	0	0.361761	0	10	109				
RP11-556N21.1	0	broad.mit.edu	37	13	25144712	25144712	+	RNA	SNP	A	A	C	rs71218558|rs3742169	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr13:25144712A>C	ENST00000453498.1	+	0	253																											TGTGTTTAACACAGCCCCTGC	0.393													c|||	2404	0.480032	0.4879	0.4798	5008	,	,		15600	0.4266		0.3976	False		,,,				2504	0.6094					ENST00000453498.1																			0																																																			374491							g.chr13:25144712A>C																													13.37:g.25144712A>C														0	253	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.393	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	24	0	0	0	0.217242	0	4	24				
DDB2	1643	broad.mit.edu	37	11	47256845	47256845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:47256845G>A	ENST00000256996.4	+	7	1100	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R238Q|DDB2_ENST00000378601.3_Missense_Mutation_p.G243S	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	302					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GATGGAGCCCGGCTCCTGACC	0.612			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000256996.4			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	"""Mis, N"""	damage-specific DNA binding protein 2			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						c.(904-906)cGg>cAg	Direct reversal of damage;Nucleotide excision repair (NER)	damage-specific DNA binding protein 2, 48kDa							99.0	97.0	98.0					11																	47256845		2201	4298	6499	SO:0001583	missense	1643	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47256845G>A		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.905G>A	11.37:g.47256845G>A	ENSP00000256996:p.Arg302Gln					DDB2_ENST00000378601.3_Missense_Mutation_p.G243S|DDB2_ENST00000378603.3_Missense_Mutation_p.R238Q|DDB2_ENST00000378600.3_Intron	p.R302Q	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN			7	1100	+			302					B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.905G>A	CCDS7927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.06|16.06	3.017135|3.017135	0.54576|0.54576	.|.	.|.	ENSG00000134574|ENSG00000134574	ENST00000378601|ENST00000256996;ENST00000378603	T|T;T	0.48201|0.66099	0.82|-0.19;2.78	5.85|5.85	1.53|1.53	0.23141|0.23141	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.245199	.|0.45361	.|N	.|0.000364	T|T	0.43986|0.43986	0.1272|0.1272	L|L	0.48642|0.48642	1.525|1.525	0.25021|0.25021	N|N	0.991336|0.991336	.|P;P	.|0.39782	.|0.688;0.483	.|B;B	.|0.24848	.|0.056;0.017	T|T	0.27706|0.27706	-1.0066|-1.0066	7|10	0.87932|0.32370	D|T	0|0.25	-0.0027|-0.0027	9.298|9.298	0.37827|0.37827	0.5846:0.0:0.4154:0.0|0.5846:0.0:0.4154:0.0	.|.	.|238;302	.|Q92466-4;Q92466	.|.;DDB2_HUMAN	S|Q	243|302;238	ENSP00000367864:G243S|ENSP00000256996:R302Q;ENSP00000367866:R238Q	ENSP00000367864:G243S|ENSP00000256996:R302Q	G|R	+|+	1|2	0|0	DDB2|DDB2	47213421|47213421	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.973000|0.973000	0.67179|0.67179	2.185000|2.185000	0.42584|0.42584	0.262000|0.262000	0.21774|0.21774	-0.136000|-0.136000	0.14681|0.14681	GGC|CGG		0.612	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		10	131	0	0	0	0.361761	0	10	131				
ROBO2	6092	broad.mit.edu	37	3	77666731	77666731	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:77666731G>C	ENST00000461745.1	+	22	4261	c.3361G>C	c.(3361-3363)Gaa>Caa	p.E1121Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.E1121Q|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.E1137Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1121					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCTGGAAGATGAACTGGAAGA	0.458																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3361-3363)Gaa>Caa		roundabout, axon guidance receptor, homolog 2 (Drosophila)							126.0	117.0	120.0					3																	77666731		2005	4172	6177	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77666731G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3361G>C	3.37:g.77666731G>C	ENSP00000417164:p.Glu1121Gln					ROBO2_ENST00000487694.3_Missense_Mutation_p.E1137Q|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.E1121Q	p.E1121Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	22	4261	+			1121					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3361G>C	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.412398|4.412398	0.83340|0.83340	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191|ENST00000490991	T;T;T|.	0.67865|.	-0.29;-0.26;-0.27|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.46442|.	D|.	0.000285|.	T|T	0.72187|0.72187	0.3429|0.3429	L|L	0.54323|0.54323	1.7|1.7	.|.	.|.	.|.	P;D;P|.	0.53462|.	0.828;0.96;0.915|.	B;P;P|.	0.56563|.	0.221;0.801;0.477|.	T|T	0.68217|0.68217	-0.5467|-0.5467	9|4	0.44086|.	T|.	0.13|.	.|.	19.5819|19.5819	0.95471|0.95471	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1137;1121;1121|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	Q|I	1137;1137;1121;1121|277	ENSP00000417335:E1137Q;ENSP00000417164:E1121Q;ENSP00000327536:E1121Q|.	ENSP00000327536:E1121Q|.	E|M	+|+	1|3	0|0	ROBO2|ROBO2	77749421|77749421	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.856000|0.856000	0.48823|0.48823	9.188000|9.188000	0.94921|0.94921	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		16	55	0	0	0	0.520397	0	16	55				
FUBP1	8880	broad.mit.edu	37	1	78444669	78444676	+	Frame_Shift_Del	DEL	ACTGTTGA	ACTGTTGA	-	rs139086388	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr1:78444669_78444676delACTGTTGA	ENST00000370768.2	-	1	94_101	c.13_20delTCAACAGT	c.(13-21)tcaacagtgfs	p.STV5fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.STV5fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.STV5fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	5					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						GGGGGGAGGCACTGTTGAATAGTCTGCC	0.572			"""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.(13-21)gfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78444669_78444676delACTGTTGA	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.13_20delTCAACAGT	1.37:g.78444669_78444676delACTGTTGA	ENSP00000359804:p.Ser5fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.STV5fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.STV5fs	p.STV5fs			Q96AE4	FUBP1_HUMAN			1	100_107	-			5					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.13_20delTCAACAGT	CCDS683.1																																																																																				0.572	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		15	49						15	49	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49688230	49688231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr3:49688230_49688231insC	ENST00000296452.4	+	4	1818_1819	c.1704_1705insC	c.(1705-1707)cctfs	p.P569fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	569					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGGCCCCCTGCCTGCCAAGGC	0.678																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(1702-1707)ctctgcfs		bassoon presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49688230_49688231insC	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1706dupC	3.37:g.49688232_49688232dupC	ENSP00000296452:p.Pro569fs						p.C569fs	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	1818_1819	+			569					O43161|Q7LGH3	Frame_Shift_Ins	INS	ENST00000296452.4	37	c.1704_1705insC	CCDS2800.1																																																																																				0.678	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		7	162						7	162	---	---	---	---
TAF9	6880	broad.mit.edu	37	5	68660786	68660806	+	In_Frame_Del	DEL	TCATCATCATCATCATCGTCA	TCATCATCATCATCATCGTCA	-	rs138635374|rs527471914|rs558584166|rs548057941|rs559947664	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:68660786_68660806delTCATCATCATCATCATCGTCA	ENST00000328663.4	-	3	1225_1245	c.759_779delTGACGATGATGATGATGATGA	c.(757-780)gatgacgatgatgatgatgatgac>gac	p.253_260DDDDDDDD>D	TAF9_ENST00000506736.1_In_Frame_Del_p.253_260DDDDDDDD>D|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_In_Frame_Del_p.253_260DDDDDDDD>D|TAF9_ENST00000380818.3_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	253	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		attatcatagtcatcatcatcatcatcgtcatcatcatcat	0.33																																						ENST00000328663.4																			1	Substitution - coding silent(1)	p.D255D(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(757-780)gac>ga		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa																																				SO:0001651	inframe_deletion	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660786_68660806delTCATCATCATCATCATCGTCA	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.759_779delTGACGATGATGATGATGATGA	5.37:g.68660786_68660806delTCATCATCATCATCATCGTCA	ENSP00000370193:p.Asp253_Asp259del					TAF9_ENST00000217893.5_In_Frame_Del_p.DDDDDDDD253del|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.DDDDDDDD253del	p.DDDDDDDD253del	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1225_1245	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	57					D3DWA3|Q5U0D1|Q9BTS1	In_Frame_Del	DEL	ENST00000328663.4	37	c.759_779delTGACGATGATGATGATGATGA	CCDS4002.1																																																																																				0.330	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		7	82						7	82	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		4	8						4	8	---	---	---	---
HIPK3	10114	broad.mit.edu	37	11	33375092	33375093	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:33375092_33375093insC	ENST00000303296.4	+	17	3931_3932	c.3626_3627insC	c.(3625-3630)ctcagcfs	p.S1210fs	HIPK3_ENST00000456517.1_Frame_Shift_Ins_p.S1189fs|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Frame_Shift_Ins_p.S1189fs|HIPK3_ENST00000525975.1_Frame_Shift_Ins_p.S1189fs	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1210					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCAACAAAACTCAGCCAGTATC	0.366																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3625-3627)cagfs		homeodomain interacting protein kinase 3																																				SO:0001589	frameshift_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33375092_33375093insC	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3627dupC	11.37:g.33375093_33375093dupC	ENSP00000304226:p.Ser1210fs					HIPK3_ENST00000379016.3_Frame_Shift_Ins_p.Q1188fs|HIPK3_ENST00000456517.1_Frame_Shift_Ins_p.Q1188fs|HIPK3_ENST00000525975.1_Frame_Shift_Ins_p.Q1188fs	p.Q1209fs	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			17	3931_3932	+			1209					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Frame_Shift_Ins	INS	ENST00000303296.4	37	c.3626_3627insC	CCDS7884.1																																																																																				0.366	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		9	66						9	66	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328525	48328525	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr11:48328525delC	ENST00000319988.1	+	1	751	c.751delC	c.(751-753)cccfs	p.P252fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGTTCTCATGCCCCCCATGTT	0.483																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(751-753)ccfs		olfactory receptor, family 4, subfamily S, member 1							243.0	221.0	229.0					11																	48328525		2201	4298	6499	SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328525delC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.751delC	11.37:g.48328525delC	ENSP00000321447:p.Pro252fs						p.P252fs	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	751	+			252					Q6IFB4	Frame_Shift_Del	DEL	ENST00000319988.1	37	c.751delC	CCDS31488.1																																																																																				0.483	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		27	138						27	138	---	---	---	---
RITA1	84934	broad.mit.edu	37	12	113629261	113629262	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr12:113629261_113629262insT	ENST00000548278.1	+	4	1141_1142	c.449_450insT	c.(448-453)ggtagcfs	p.S151fs	C12orf52_ENST00000552495.1_Frame_Shift_Ins_p.S175fs|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Frame_Shift_Ins_p.S151fs	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		151	Interaction with RBPJ/RBPSUH.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						ACCCCCAGGGGTAGCCACTCGC	0.678																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(448-450)gagfs		chromosome 12 open reading frame 52																																				SO:0001589	frameshift_variant	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629261_113629262insT																												ENST00000548278.1:c.450dupT	12.37:g.113629262_113629262dupT	ENSP00000449841:p.Ser151fs					C12orf52_ENST00000549621.1_Frame_Shift_Ins_p.E150fs|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Frame_Shift_Ins_p.E174fs	p.E150fs	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			4	1141_1142	+			150			Interaction with RBPJ/RBPSUH.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Frame_Shift_Ins	INS	ENST00000548278.1	37	c.449_450insT	CCDS9166.1																																																																																				0.678	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			8	48						8	48	---	---	---	---
SRP14-AS1	100131089	broad.mit.edu	37	15	40342923	40342923	+	lincRNA	DEL	G	G	-	rs200060235|rs553821155	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr15:40342923delG	ENST00000504245.1	+	0	247					NR_040060.1				SRP14 antisense RNA1 (head to head)																		tgtgtagtgtggggggggttt	0.602													GGGGGGG|GGGGGGGG|GGGGGGG|insertion	568	0.113419	0.0998	0.0807	5008	,	,		8551	0.128		0.1034	False		,,,				2504	0.1503					ENST00000504245.1																			0																																																			100131089							g.chr15:40342923delG			15q15.1	2013-05-24			ENSG00000248508	ENSG00000248508		"""Long non-coding RNAs"""	48619	non-coding RNA	RNA, long non-coding							Standard	NR_040059		Approved				OTTHUMG00000172392		15.37:g.40342923delG								NR_040060.1						0	247	+									RNA	DEL	ENST00000504245.1	37																																																																																						0.602	SRP14-AS1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000418269.1			2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578506	7578514	+	In_Frame_Del	DEL	GGCAGGTCT	GGCAGGTCT	-	rs587781288		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:7578506_7578514delGGCAGGTCT	ENST00000269305.4	-	5	605_613	c.416_424delAGACCTGCC	c.(415-426)aagacctgccct>act	p.139_142KTCP>T	TP53_ENST00000413465.2_In_Frame_Del_p.139_142KTCP>T|TP53_ENST00000359597.4_In_Frame_Del_p.139_142KTCP>T|TP53_ENST00000455263.2_In_Frame_Del_p.139_142KTCP>T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_In_Frame_Del_p.139_142KTCP>T|TP53_ENST00000420246.2_In_Frame_Del_p.139_142KTCP>T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	139	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:14660794}.|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141Y(79)|p.C141R(13)|p.C141W(13)|p.T140I(12)|p.C141*(11)|p.K139N(9)|p.0?(8)|p.K139K(7)|p.T140T(6)|p.C9Y(5)|p.C48Y(5)|p.C141S(5)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.C141F(4)|p.K139fs*9(3)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.C141fs*29(3)|p.K139R(2)|p.K139fs*31(2)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.K139T(1)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.T140fs*9(1)|p.K46_T47delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9S(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.T140N(1)|p.C48S(1)|p.C48R(1)|p.C48W(1)|p.C42fs*9(1)|p.C9R(1)|p.C135_T140delCQLAKT(1)|p.Q136_K139delQLAK(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.C3fs*9(1)|p.T140fs*28(1)|p.T140fs*30(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGCTGCACAGGGCAGGTCTTGGCCAGTTG	0.569		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		250	Substitution - Missense(165)|Deletion - Frameshift(21)|Deletion - In frame(17)|Substitution - coding silent(17)|Substitution - Nonsense(11)|Whole gene deletion(8)|Insertion - Frameshift(7)|Complex - deletion inframe(2)|Insertion - In frame(1)|Complex - frameshift(1)	p.C141Y(79)|p.C141R(13)|p.C141W(13)|p.T140I(12)|p.C141*(11)|p.K139N(9)|p.0?(8)|p.K139K(7)|p.T140T(6)|p.C9Y(5)|p.C48Y(5)|p.C141S(5)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.C141F(4)|p.K139fs*9(3)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.C141fs*29(3)|p.K139R(2)|p.K139fs*31(2)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.K139T(1)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.T140fs*9(1)|p.K46_T47delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9S(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.T140N(1)|p.C48S(1)|p.C48R(1)|p.C48W(1)|p.C42fs*9(1)|p.C9R(1)|p.C135_T140delCQLAKT(1)|p.Q136_K139delQLAK(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.C3fs*9(1)|p.T140fs*28(1)|p.T140fs*30(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1)	large_intestine(36)|breast(31)|ovary(28)|lung(20)|oesophagus(15)|urinary_tract(15)|haematopoietic_and_lymphoid_tissue(15)|central_nervous_system(12)|upper_aerodigestive_tract(11)|liver(11)|stomach(10)|skin(7)|prostate(7)|endometrium(6)|NS(5)|bone(5)|biliary_tract(4)|testis(3)|soft_tissue(3)|kidney(2)|pancreas(2)|eye(1)|genital_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM993216	TP53	M		c.(415-426)act>a	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578506_7578514delGGCAGGTCT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.416_424delAGACCTGCC	17.37:g.7578506_7578514delGGCAGGTCT	ENSP00000269305:p.Lys139_Pro142delinsThr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_In_Frame_Del_p.KTCP139del|TP53_ENST00000445888.2_In_Frame_Del_p.KTCP139del|TP53_ENST00000455263.2_In_Frame_Del_p.KTCP139del|TP53_ENST00000359597.4_In_Frame_Del_p.KTCP139del|TP53_ENST00000269305.4_In_Frame_Del_p.KTCP139del	p.KTCP139del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	548_556	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	139		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.416_424delAGACCTGCC	CCDS11118.1																																																																																				0.569	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	44						8	44	---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18874924	18874925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:18874924_18874925insC	ENST00000388995.6	-	6	2442_2443	c.2219_2220insG	c.(2218-2220)ggcfs	p.G740fs	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.G740fs|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.G740fs			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	740					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGTGGTGGGGGCCAGCCATGGC	0.653																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2218-2220)gccfs		family with sequence similarity 83, member G																																				SO:0001589	frameshift_variant	644815							g.chr17:18874924_18874925insC	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2220dupG	17.37:g.18874926_18874926dupC	ENSP00000373647:p.Gly740fs					FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.A740fs|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.A740fs|SLC5A10_ENST00000317977.6_Intron	p.A740fs			A6ND36	FA83G_HUMAN			6	2442_2443	-			740					Q3KQZ4|Q6ZW60	Frame_Shift_Ins	INS	ENST00000388995.6	37	c.2219_2220insG	CCDS42276.1																																																																																				0.653	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			11	101						11	101	---	---	---	---
LINC00854	100874261	broad.mit.edu	37	17	41381913	41381914	+	RNA	INS	-	-	T	rs386797200|rs11403368|rs71220402	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:41381913_41381914insT	ENST00000433702.2	-	0	14				LINC00854_ENST00000608223.1_RNA|LINC00854_ENST00000600764.1_RNA	NR_047479.1				long intergenic non-protein coding RNA 854																		accctgatctatcatcgggagg	0.55																																						ENST00000433702.2																			0																																																			100874261							g.chr17:41381913_41381914insT			17q21.31	2013-02-13	2013-02-13	2013-02-13	ENSG00000236383	ENSG00000236383		"""Long non-coding RNAs"""	43658	non-coding RNA	RNA, long non-coding			"""TMEM106A antisense RNA 1 (non-protein coding)"", ""TMEM106A antisense RNA 1"", ""TMEM106A antisense RNA 1 (tail to tail)"""	TMEM106A-AS1		22196729	Standard	NR_047479		Approved		uc031ras.1		OTTHUMG00000132641		17.37:g.41381914_41381914dupT								NR_047479.1						0	14	-									RNA	INS	ENST00000433702.2	37																																																																																						0.550	LINC00854-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000255889.2			6	13						6	13	---	---	---	---
G6PC3	92579	broad.mit.edu	37	17	42153275	42153275	+	Frame_Shift_Del	DEL	A	A	-	rs34019455		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:42153275delA	ENST00000269097.4	+	6	1136	c.905delA	c.(904-906)cacfs	p.H302fs		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	302					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGCTGGGCCACCCCCCTCAG	0.612																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(904-906)ccfs		glucose 6 phosphatase, catalytic, 3							78.0	72.0	74.0					17																	42153275		2203	4300	6503	SO:0001589	frameshift_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42153275delA	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.905delA	17.37:g.42153275delA	ENSP00000269097:p.His302fs						p.H302fs	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1136	+		Breast(137;0.00637)|Prostate(33;0.0313)	302					Q8WU15	Frame_Shift_Del	DEL	ENST00000269097.4	37	c.905delA	CCDS11476.1																																																																																				0.612	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		8	123						8	123	---	---	---	---
LOC146880	146880	broad.mit.edu	37	17	62757842	62757843	+	RNA	INS	-	-	A	rs79383345|rs76968253		TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr17:62757842_62757843insA	ENST00000400873.3	-	0	1605					NR_026899.1																						gactccgtctcaaaaaaaaaaa	0.416																																						ENST00000400873.3																			0																																																			146880							g.chr17:62757842_62757843insA																													17.37:g.62757853_62757853dupA								NR_026899.1						0	1605	-									RNA	INS	ENST00000400873.3	37																																																																																						0.416	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				3	5						3	5	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13319692	13319694	+	In_Frame_Del	DEL	GAT	GAT	-	rs16051	byFrequency	TCGA-CV-5444-01A-02D-1512-08	TCGA-CV-5444-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf975479-131b-4b37-927e-cacb1f13e62d	8ad8ae9f-d5e1-4520-bd9a-7f91284489e5	g.chr19:13319692_13319694delGAT	ENST00000360228.5	-	46	6655_6657	c.6656_6658delATC	c.(6655-6660)catccc>ccc	p.H2219del	CACNA1A_ENST00000573710.2_In_Frame_Del_p.H2220del	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2220	Poly-His.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGGGCGGGGGAtggtggtggtg	0.734																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(6655-6660)ccc>c		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)																																			SO:0001651	inframe_deletion	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13319692_13319694delGAT	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6656_6658delATC	19.37:g.13319692_13319694delGAT	ENSP00000353362:p.His2219del					CACNA1A_ENST00000573710.2_In_Frame_Del_p.HP2220del	p.HP2219del	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		46	6655_6657	-			2220			Poly-His.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Del	DEL	ENST00000360228.5	37	c.6656_6658delATC	CCDS45998.1																																																																																				0.734	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	6						3	6	---	---	---	---
