#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ALDH5A1	7915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24528317	24528317	+	Silent	SNP	T	T	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr6:24528317T>C	ENST00000357578.3	+	8	1411	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	ALDH5A1_ENST00000348925.2_Silent_p.P435P|ALDH5A1_ENST00000546278.1_Silent_p.P334P|ALDH5A1_ENST00000491546.1_Silent_p.P394P	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	422					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.P435P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TCTTTGAGCCTACCCTGCTGT	0.502																																																	2	Substitution - coding silent(2)	kidney(1)|endometrium(1)											103.0	96.0	98.0					6																	24528317		2203	4300	6503	SO:0001819	synonymous_variant	7915			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1266T>C	6.37:g.24528317T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	CCDS4555.1																																																																																				0.502	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			
APBB1IP	54518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26789847	26789847	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr10:26789847A>T	ENST00000376236.4	+	5	715	c.260A>T	c.(259-261)aAa>aTa	p.K87I	APBB1IP_ENST00000356785.4_Missense_Mutation_p.K87I	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	87					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.K87I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAGGCACAGAAAGAGTCCTTG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											155.0	136.0	143.0					10																	26789847		2203	4300	6503	SO:0001583	missense	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.260A>T	10.37:g.26789847A>T	ENSP00000365411:p.Lys87Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011975	0.54468	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.34472	1.36	5.84	3.49	0.39957	.	0.435227	0.29307	N	0.012535	T	0.46034	0.1372	L	0.44542	1.39	0.30366	N	0.783325	D;D;D	0.71674	0.966;0.987;0.998	P;P;D	0.65874	0.641;0.871;0.939	T	0.46442	-0.9191	10	0.56958	D	0.05	.	8.5787	0.33614	0.8435:0.0:0.1565:0.0	.	87;87;87	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	I	87	ENSP00000365411:K87I	ENSP00000349237:K87I	K	+	2	0	APBB1IP	26829853	0.998000	0.40836	0.991000	0.47740	0.835000	0.47333	3.124000	0.50461	0.458000	0.26988	0.460000	0.39030	AAA		0.458	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1		NM_019043	
ATP4A	495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36046491	36046491	+	Splice_Site	SNP	C	C	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr19:36046491C>G	ENST00000262623.3	-	14	2036	c.2008G>C	c.(2008-2010)Gat>Cat	p.D670H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	670					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.D670H(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCACGGGCATCCCTGGGGAGG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											59.0	61.0	60.0					19																	36046491		2203	4300	6503	SO:0001630	splice_region_variant	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2007-1G>C	19.37:g.36046491C>G		Somatic		WXS	Illumina HiSeq	Phase_I	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078503	0.55753	.	.	ENSG00000105675	ENST00000262623	D	0.94330	-3.4	4.97	4.97	0.65823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.071059	0.51477	D	0.000084	D	0.94918	0.8357	L	0.42581	1.335	0.80722	D	1	D	0.59767	0.986	D	0.72625	0.978	D	0.95170	0.8289	10	0.66056	D	0.02	.	15.7722	0.78180	0.0:1.0:0.0:0.0	.	670	P20648	ATP4A_HUMAN	H	670	ENSP00000262623:D670H	ENSP00000262623:D670H	D	-	1	0	ATP4A	40738331	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	4.821000	0.62679	2.595000	0.87683	0.462000	0.41574	GAT		0.637	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2		NM_000704	Missense_Mutation
KANSL2	54934	broad.mit.edu;ucsc.edu	37	12	49073492	49073492	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr12:49073492C>A	ENST00000420613.2	-	3	423	c.376G>T	c.(376-378)Gag>Tag	p.E126*	KANSL2_ENST00000550347.1_Nonsense_Mutation_p.E309*|KANSL2_ENST00000553086.1_Nonsense_Mutation_p.E126*|KANSL2_ENST00000357861.3_5'UTR	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	126					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)		p.E126*(2)									GACCCCAGCTCTGTCTTAGCA	0.507																																																	2	Substitution - Nonsense(2)	kidney(2)											52.0	49.0	50.0					12																	49073492		1916	4140	6056	SO:0001587	stop_gained	0			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.376G>T	12.37:g.49073492C>A	ENSP00000415436:p.Glu126*	Somatic		WXS	Illumina GAIIx	Phase_I	Q8N3B5|Q96CV0|Q9NX51	Nonsense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	37	6.188325	0.97362	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550931	.	.	.	5.95	5.95	0.96441	.	0.048243	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7711	19.1412	0.93446	0.0:1.0:0.0:0.0	.	.	.	.	X	309;126;126;63	.	.	E	-	1	0	C12orf41	47359759	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.003000	0.76310	2.811000	0.96726	0.655000	0.94253	GAG		0.507	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1		NM_017822	
SPRTN	83932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	231487063	231487063	+	Missense_Mutation	SNP	T	T	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr1:231487063T>G	ENST00000295050.7	+	4	800	c.464T>G	c.(463-465)tTt>tGt	p.F155C	SPRTN_ENST00000008440.9_Missense_Mutation_p.F112C|SPRTN_ENST00000391858.4_Missense_Mutation_p.F155C|SPRTN_ENST00000469904.1_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	155	SprT-like.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)	p.F155C(1)									TACCATACTTTTCACGATGAG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											63.0	65.0	65.0					1																	231487063		2203	4300	6503	SO:0001583	missense	0			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.464T>G	1.37:g.231487063T>G	ENSP00000295050:p.Phe155Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420328	0.83559	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000545269;ENST00000366644	T;T;T	0.50813	0.73;0.73;0.73	5.73	5.73	0.89815	Domain of unknown function SprT-like (2);	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.85299	0.1072	10	0.87932	D	0	-27.6467	16.3135	0.82905	0.0:0.0:0.0:1.0	.	112;155;155	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	C	155;155;112;112;51	ENSP00000375731:F155C;ENSP00000295050:F155C;ENSP00000355604:F51C	ENSP00000008440:F112C	F	+	2	0	C1orf124	229553686	1.000000	0.71417	0.577000	0.28562	0.847000	0.48162	7.997000	0.88414	2.313000	0.78055	0.519000	0.50382	TTT		0.423	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1		NM_032018	
CCDC85A	114800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	56419911	56419911	+	Silent	SNP	C	C	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr2:56419911C>T	ENST00000407595.2	+	2	1078	c.576C>T	c.(574-576)agC>agT	p.S192S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	192								p.S192S(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCCAGGCCAGCCTGTGCCAAC	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											27.0	34.0	32.0					2																	56419911		2155	4252	6407	SO:0001819	synonymous_variant	114800			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.576C>T	2.37:g.56419911C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000407595.2	37	CCDS46290.1																																																																																				0.632	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			
CIRH1A	84916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69199341	69199341	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr16:69199341C>G	ENST00000314423.7	+	15	1922	c.1745C>G	c.(1744-1746)cCt>cGt	p.P582R	CIRH1A_ENST00000352319.4_Missense_Mutation_p.P467R|CIRH1A_ENST00000563094.1_Missense_Mutation_p.P582R			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	582					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.P582R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AGGGATACTCCTATCACACAC	0.468																																					Melanoma(69;1156 1278 4951 8715 52012)												1	Substitution - Missense(1)	kidney(1)											181.0	144.0	157.0					16																	69199341		2198	4300	6498	SO:0001583	missense	84916			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1745C>G	16.37:g.69199341C>G	ENSP00000327179:p.Pro582Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756341	0.89843	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.44881	1.5;0.91	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.91635	0.809;0.999	T	0.55237	-0.8172	10	0.13108	T	0.6	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	582;582	Q969X6;Q969X6-3	CIR1A_HUMAN;.	R	582;467	ENSP00000327179:P582R;ENSP00000339164:P467R	ENSP00000327179:P582R	P	+	2	0	CIRH1A	67756842	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.736000	0.74811	2.941000	0.99782	0.655000	0.94253	CCT		0.468	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2		NM_032830	
CNTLN	54875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	17416024	17416024	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr9:17416024T>A	ENST00000380647.3	+	18	3035	c.2951T>A	c.(2950-2952)tTa>tAa	p.L984*	CNTLN_ENST00000425824.1_Nonsense_Mutation_p.L984*|CNTLN_ENST00000262360.5_Nonsense_Mutation_p.L984*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	984					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L984*(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATTATTTTATTACGAGAACGG	0.274																																																	1	Substitution - Nonsense(1)	kidney(1)											64.0	61.0	62.0					9																	17416024		1809	4074	5883	SO:0001587	stop_gained	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2951T>A	9.37:g.17416024T>A	ENSP00000370021:p.Leu984*	Somatic		WXS	Illumina HiSeq	Phase_I	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	T	41	9.070684	0.99055	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0133	0.58743	0.0:0.0:0.0:1.0	.	.	.	.	X	984	.	ENSP00000262360:L984X	L	+	2	0	CNTLN	17406024	1.000000	0.71417	0.990000	0.47175	0.729000	0.41735	4.497000	0.60367	1.947000	0.56498	0.460000	0.39030	TTA		0.274	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3		NM_017738	
DIP2C	22982	broad.mit.edu;ucsc.edu	37	10	409240	409240	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr10:409240A>T	ENST00000280886.6	-	21	2576	c.2489T>A	c.(2488-2490)tTc>tAc	p.F830Y	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.F151Y	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	830						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.F830Y(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGTCACCGAGAACACGGCTAT	0.627																																																	1	Substitution - Missense(1)	kidney(1)											146.0	99.0	115.0					10																	409240		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2489T>A	10.37:g.409240A>T	ENSP00000280886:p.Phe830Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.946165	0.92593	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.63096	2.86;-0.02	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83161	0.5194	M	0.90542	3.125	0.80722	D	1	D;D	0.71674	0.998;0.989	D;D	0.83275	0.996;0.925	D	0.86736	0.1951	10	0.87932	D	0	-32.2904	16.3486	0.83191	1.0:0.0:0.0:0.0	.	151;830	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	Y	830;151	ENSP00000280886:F830Y;ENSP00000443826:F151Y	ENSP00000280886:F830Y	F	-	2	0	DIP2C	399240	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	9.331000	0.96430	2.259000	0.74868	0.528000	0.53228	TTC		0.627	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1		NM_014974	
EHMT1	79813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140671279	140671279	+	Silent	SNP	C	C	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr9:140671279C>T	ENST00000460843.1	+	12	2028	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	EHMT1_ENST00000462484.1_Silent_p.A667A|EHMT1_ENST00000334856.6_Silent_p.A636A|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	667					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.A636A(1)|p.A667A(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGGCAGGGCCGACACCACAA	0.592																																																	2	Substitution - coding silent(2)	kidney(2)											49.0	45.0	46.0					9																	140671279		2203	4300	6503	SO:0001819	synonymous_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2001C>T	9.37:g.140671279C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	CCDS7050.2																																																																																				0.592	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2		NM_024757	
FAM58A	92002	broad.mit.edu;hgsc.bcm.edu	37	X	152860113	152860113	+	Silent	SNP	G	G	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chrX:152860113G>C	ENST00000406277.2	-	5	417	c.315C>G	c.(313-315)ccC>ccG	p.P105P	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	107					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)			p.P73P(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAATTCCAGGGGCTCACCGC	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											57.0	52.0	54.0					X																	152860113		2203	4300	6503	SO:0001819	synonymous_variant	92002			BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.315C>G	X.37:g.152860113G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q2I380|Q330J9|Q96IU5|Q9BUU1	Missense_Mutation	SNP	ENST00000406277.2	37		.	.	.	.	.	.	.	.	.	.	G	0.048	-1.259616	0.01445	.	.	ENSG00000147382	ENST00000429336;ENST00000440428	T;T	0.43688	0.94;0.94	4.81	0.899	0.19271	.	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38585	-0.9654	7	0.51188	T	0.08	-37.2143	8.713	0.34395	0.4609:0.0:0.5391:0.0	.	.	.	.	A	29;10	ENSP00000412865:P29A;ENSP00000402949:P10A	ENSP00000412865:P29A	P	-	1	0	FAM58A	152513307	0.011000	0.17503	0.029000	0.17559	0.003000	0.03518	-0.146000	0.10250	0.062000	0.16340	-0.297000	0.09499	CCT		0.552	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152274	
GCC2	9648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109099526	109099526	+	Silent	SNP	C	C	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr2:109099526C>T	ENST00000309863.6	+	12	4068	c.3354C>T	c.(3352-3354)gcC>gcT	p.A1118A		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1118					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.A1118A(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGGAACATGCCACTACTGTAA	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	49.0	49.0					2																	109099526		2203	4300	6503	SO:0001819	synonymous_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3354C>T	2.37:g.109099526C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	CCDS33268.1																																																																																				0.358	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635	
GLYR1	84656	hgsc.bcm.edu;ucsc.edu	37	16	4867698	4867698	+	Splice_Site	DEL	C	C	-			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr16:4867698delC	ENST00000321919.9	-	10	883	c.807delG	c.(805-807)aag>aa	p.K269fs	GLYR1_ENST00000436648.5_Splice_Site_p.K188fs|GLYR1_ENST00000591451.1_Splice_Site_p.K269fs|GLYR1_ENST00000381983.3_Splice_Site_p.K252fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	269					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AAAATCCTATCCTGAAACAGA	0.507																																																	0													118.0	107.0	111.0					16																	4867698		2197	4300	6497	SO:0001630	splice_region_variant	84656			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.807-1G>-	16.37:g.4867698delC		Somatic		WXS	Illumina HiSeq	Phase_I	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Del	DEL	ENST00000321919.9	37	CCDS10524.1																																																																																				0.507	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2		NM_032569	Frame_Shift_Del
GPR78	27201	broad.mit.edu;hgsc.bcm.edu	37	4	8583134	8583134	+	Missense_Mutation	SNP	T	T	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr4:8583134T>A	ENST00000382487.4	+	1	842	c.425T>A	c.(424-426)cTt>cAt	p.L142H	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	142					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L142H(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GGCGCTGCACTTGGCTGCTCG	0.711																																																	1	Substitution - Missense(1)	kidney(1)											10.0	12.0	11.0					4																	8583134		2171	4254	6425	SO:0001583	missense	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.425T>A	4.37:g.8583134T>A	ENSP00000371927:p.Leu142His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.535900	0.27475	.	.	ENSG00000155269	ENST00000382487	T	0.44881	0.91	2.53	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	0.457587	0.17015	U	0.190338	T	0.51007	0.1649	L	0.52905	1.665	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.38134	-0.9675	10	0.87932	D	0	.	3.8196	0.08830	0.2165:0.0:0.2231:0.5603	.	142	Q96P69	GPR78_HUMAN	H	142	ENSP00000371927:L142H	ENSP00000371927:L142H	L	+	2	0	GPR78	8634034	0.056000	0.20664	0.000000	0.03702	0.004000	0.04260	2.368000	0.44222	-0.067000	0.12976	0.260000	0.18958	CTT		0.711	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			
ITGA4	3676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	182396472	182396472	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr2:182396472A>G	ENST00000397033.2	+	25	3183	c.2753A>G	c.(2752-2754)cAa>cGa	p.Q918R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	918					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.Q918R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GTTCATATCCAACTGGAAGGC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											83.0	83.0	83.0					2																	182396472		1811	4072	5883	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2753A>G	2.37:g.182396472A>G	ENSP00000380227:p.Gln918Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	0.226	-1.024594	0.02061	.	.	ENSG00000115232	ENST00000397033	T	0.41065	1.01	5.62	5.62	0.85841	.	0.268987	0.43260	D	0.000594	T	0.24851	0.0603	L	0.29908	0.895	0.32605	N	0.525386	P	0.34462	0.454	B	0.24394	0.053	T	0.25467	-1.0131	10	0.02654	T	1	.	14.0684	0.64847	1.0:0.0:0.0:0.0	.	918	P13612	ITA4_HUMAN	R	918	ENSP00000380227:Q918R	ENSP00000380227:Q918R	Q	+	2	0	ITGA4	182104717	1.000000	0.71417	0.929000	0.37066	0.048000	0.14542	6.356000	0.73046	2.141000	0.66446	0.528000	0.53228	CAA		0.343	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			
KIAA0100	9703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26961748	26961748	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr17:26961748G>C	ENST00000528896.2	-	16	2931	c.2857C>G	c.(2857-2859)Ctc>Gtc	p.L953V	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L810V|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.L810V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	953						extracellular region (GO:0005576)		p.L953V(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTGCCATAGAGACGACGGGAA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											121.0	121.0	121.0					17																	26961748		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2857C>G	17.37:g.26961748G>C	ENSP00000436773:p.Leu953Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675323	0.67928	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T;T	0.27890	1.98;1.64;1.64	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.66939	2.045	0.58432	D	0.999999	D	0.69078	0.997	D	0.78314	0.991	T	0.50482	-0.8823	10	0.45353	T	0.12	.	20.2651	0.98459	0.0:0.0:1.0:0.0	.	953	Q14667	K0100_HUMAN	V	953;923;953;810	ENSP00000467716:L923V;ENSP00000436773:L953V;ENSP00000446443:L810V	ENSP00000005905:L953V	L	-	1	0	KIAA0100	23985875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.400000	0.79949	2.796000	0.96246	0.563000	0.77884	CTC		0.537	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680	
CEMIP	57214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	81172060	81172060	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr15:81172060A>G	ENST00000394685.3	+	5	664	c.245A>G	c.(244-246)aAg>aGg	p.K82R	KIAA1199_ENST00000220244.3_Missense_Mutation_p.K82R|KIAA1199_ENST00000356249.5_Missense_Mutation_p.K82R			Q8WUJ3	CEMIP_HUMAN		82	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.K82R(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTTCAGGCAAGCTGGTCATT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											77.0	69.0	72.0					15																	81172060		2203	4300	6503	SO:0001583	missense	57214																														ENST00000394685.3:c.245A>G	15.37:g.81172060A>G	ENSP00000378177:p.Lys82Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	A	9.941	1.217532	0.22373	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	D;D;D	0.89485	-2.52;-2.52;-2.52	6.03	4.92	0.64577	G8 domain (2);	0.118551	0.53938	N	0.000052	D	0.91865	0.7425	L	0.53617	1.68	0.44789	D	0.997792	P	0.37781	0.608	P	0.59357	0.856	D	0.88829	0.3304	10	0.25751	T	0.34	-27.1059	11.8835	0.52589	0.9326:0.0:0.0674:0.0	.	82	Q8WUJ3	K1199_HUMAN	R	82	ENSP00000220244:K82R;ENSP00000378177:K82R;ENSP00000348583:K82R	ENSP00000220244:K82R	K	+	2	0	KIAA1199	78959115	1.000000	0.71417	0.997000	0.53966	0.037000	0.13140	5.328000	0.65887	1.108000	0.41662	0.533000	0.62120	AAG		0.527	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10425659	10425659	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr1:10425659G>C	ENST00000377086.1	+	43	4907	c.4705G>C	c.(4705-4707)Gga>Cga	p.G1569R	KIF1B_ENST00000377081.1_Missense_Mutation_p.G1569R|KIF1B_ENST00000263934.6_Missense_Mutation_p.G1523R			O60333	KIF1B_HUMAN	kinesin family member 1B	1569					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.G1523R(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTATGATTCAGGAGACATCGA	0.527																																																	1	Substitution - Missense(1)	kidney(1)											107.0	100.0	102.0					1																	10425659		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4705G>C	1.37:g.10425659G>C	ENSP00000366290:p.Gly1569Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	8.256	0.810181	0.16537	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.71341	-0.48;-0.56;-0.56	5.75	1.85	0.25348	.	0.254958	0.39341	N	0.001386	T	0.44435	0.1293	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0;0.001	T	0.21518	-1.0243	10	0.10902	T	0.67	.	10.2607	0.43425	0.4501:0.0:0.5499:0.0	.	1555;1529;1569;1543;1569;1523	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	R	1569;1523;1569;1569	ENSP00000263934:G1523R;ENSP00000366290:G1569R;ENSP00000366284:G1569R	ENSP00000263934:G1523R	G	+	1	0	KIF1B	10348246	0.203000	0.23435	0.581000	0.28614	0.912000	0.54170	0.707000	0.25704	0.089000	0.17243	-0.145000	0.13849	GGA		0.527	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			
KLRG1	10219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9144837	9144837	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr12:9144837G>A	ENST00000266551.4	+	2	133	c.118G>A	c.(118-120)Gca>Aca	p.A40T	KLRG1_ENST00000538029.1_Intron|KLRG1_ENST00000356986.3_Missense_Mutation_p.A40T|RP11-259O18.4_ENST00000545706.1_RNA	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	40					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.A40T(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TTGCCTTGTGGCAATAGCTTT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											241.0	219.0	227.0					12																	9144837		2203	4300	6503	SO:0001583	missense	10219			AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	6380	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member A"""	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.118G>A	12.37:g.9144837G>A	ENSP00000266551:p.Ala40Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZAM2|O43198|O75613	Missense_Mutation	SNP	ENST00000266551.4	37		.	.	.	.	.	.	.	.	.	.	G	9.523	1.108734	0.20714	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	T;T	0.16743	2.32;2.32	3.69	1.83	0.25207	.	0.617862	0.13731	N	0.366711	T	0.09379	0.0231	N	0.24115	0.695	0.09310	N	1	B;P	0.36392	0.416;0.551	B;B	0.34779	0.092;0.189	T	0.27938	-1.0059	10	0.23302	T	0.38	-0.772	5.7323	0.18047	0.2317:0.0:0.7683:0.0	.	40;40	Q96E93;Q96E93-2	KLRG1_HUMAN;.	T	40	ENSP00000349477:A40T;ENSP00000266551:A40T	ENSP00000266551:A40T	A	+	1	0	KLRG1	9036104	0.625000	0.27111	0.121000	0.21740	0.627000	0.37826	0.952000	0.29149	0.518000	0.28383	0.462000	0.41574	GCA		0.448	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1		NM_005810	
LRP10	26020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23344975	23344975	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr14:23344975C>G	ENST00000359591.4	+	5	1509	c.818C>G	c.(817-819)gCt>gGt	p.A273G	LRP10_ENST00000546834.1_Missense_Mutation_p.A273G	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	273	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A273G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AATGGCAAGGCTGTCACTGTG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											94.0	77.0	83.0					14																	23344975		2203	4300	6503	SO:0001583	missense	26020			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.818C>G	14.37:g.23344975C>G	ENSP00000352601:p.Ala273Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466362	0.63625	.	.	ENSG00000197324	ENST00000359591;ENST00000546834	T;T	0.18810	2.19;2.19	5.97	5.97	0.96955	CUB (5);	0.161366	0.56097	D	0.000030	T	0.32763	0.0840	L	0.55481	1.735	0.37692	D	0.923875	D	0.61697	0.99	P	0.54759	0.76	T	0.04579	-1.0941	10	0.32370	T	0.25	-8.6813	13.1958	0.59738	0.0:0.9238:0.0:0.0762	.	273	Q7Z4F1	LRP10_HUMAN	G	273	ENSP00000352601:A273G;ENSP00000447559:A273G	ENSP00000352601:A273G	A	+	2	0	LRP10	22414815	0.035000	0.19736	1.000000	0.80357	0.994000	0.84299	2.846000	0.48262	2.837000	0.97791	0.655000	0.94253	GCT		0.582	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			
MLH3	27030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75515759	75515759	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr14:75515759C>G	ENST00000556740.1	-	1	635	c.600G>C	c.(598-600)caG>caC	p.Q200H	MLH3_ENST00000355774.2_Missense_Mutation_p.Q200H|MLH3_ENST00000238662.7_Missense_Mutation_p.Q200H|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.Q200H			Q9UHC1	MLH3_HUMAN	mutL homolog 3	200					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.Q200H(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTTAGGGAGCTGAAGAACCA	0.373								Mismatch excision repair (MMR)																																									2	Substitution - Missense(2)	kidney(2)											46.0	45.0	45.0					14																	75515759		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.600G>C	14.37:g.75515759C>G	ENSP00000452316:p.Gln200His	Somatic		WXS	Illumina HiSeq	Phase_I	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001474	0.35320	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.91	-2.85	0.05734	Ribosomal protein S5 domain 2-type fold (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.82719	0.5098	L	0.39514	1.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78846	-0.2043	10	0.59425	D	0.04	-8.0414	13.7491	0.62897	0.0:0.5399:0.0:0.4601	.	200;200	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	H	200	ENSP00000348020:Q200H;ENSP00000238662:Q200H;ENSP00000451540:Q200H;ENSP00000452316:Q200H	ENSP00000238662:Q200H	Q	-	3	2	MLH3	74585512	0.974000	0.33945	0.587000	0.28692	0.951000	0.60555	0.243000	0.18106	-1.383000	0.02106	-0.797000	0.03246	CAG		0.373	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1		NM_014381	
MYO16	23026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	109817265	109817265	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr13:109817265G>A	ENST00000357550.2	+	32	5156	c.5115G>A	c.(5113-5115)atG>atA	p.M1705I	MYO16-AS1_ENST00000439299.1_RNA|MYO16_ENST00000356711.2_Missense_Mutation_p.M1705I	NM_001198950.1	NP_001185879.1			myosin XVI									p.M1705I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAACTAACATGAACATAAGTA	0.284																																																	1	Substitution - Missense(1)	kidney(1)											43.0	43.0	43.0					13																	109817265		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5115G>A	13.37:g.109817265G>A	ENSP00000350160:p.Met1705Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289250	0.23478	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.79454	-1.27;-1.27	5.19	5.19	0.71726	.	0.180535	0.27143	U	0.020727	T	0.66317	0.2777	L	0.28274	0.84	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.60239	-0.7302	9	.	.	.	.	15.8261	0.78709	0.0:0.0:1.0:0.0	.	1705	Q9Y6X6	MYO16_HUMAN	I	1705	ENSP00000349145:M1705I;ENSP00000350160:M1705I	.	M	+	3	0	MYO16	108615266	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.757000	0.47557	2.579000	0.87056	0.557000	0.71058	ATG		0.284	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011	
NCAPG	64151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	17819025	17819026	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr4:17819025_17819026insAA	ENST00000251496.2	+	6	1093_1094	c.917_918insAA	c.(916-921)tcaatafs	p.I307fs		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	307					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GCCTTGTTTTCAATAACTCCTC	0.391																																																	0																																										SO:0001589	frameshift_variant	64151			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.918_919dupAA	4.37:g.17819026_17819027dupAA	ENSP00000251496:p.Ile307fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Ins	INS	ENST00000251496.2	37	CCDS3424.1																																																																																				0.391	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1		NM_022346	
NDUFAF3	25915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49059963	49059963	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr3:49059963C>A	ENST00000326925.6	+	2	1396	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	NDUFAF3_ENST00000326912.4_Missense_Mutation_p.Q31K|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.Q31K|DALRD3_ENST00000313778.5_5'Flank|MIR425_ENST00000362162.1_RNA|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.Q31K|DALRD3_ENST00000496568.1_5'Flank|MIR191_ENST00000384873.1_RNA	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	88					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.Q88K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CTCGGTGGTGCAGTGGAACGT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											26.0	25.0	25.0					3																	49059963		2203	4300	6503	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.262C>A	3.37:g.49059963C>A	ENSP00000323076:p.Gln88Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817943	0.71028	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	L	0.53729	1.69	0.80722	D	1	P	0.51653	0.947	P	0.57009	0.811	T	0.73119	-0.4083	10	0.06365	T	0.9	-24.1416	18.6934	0.91592	0.0:1.0:0.0:0.0	.	88	Q9BU61	NDUF3_HUMAN	K	31;88;31;31	ENSP00000323003:Q31K;ENSP00000323076:Q88K;ENSP00000378843:Q31K;ENSP00000402465:Q31K	ENSP00000323003:Q31K	Q	+	1	0	NDUFAF3	49034967	1.000000	0.71417	0.999000	0.59377	0.071000	0.16799	7.273000	0.78527	2.509000	0.84616	0.591000	0.81541	CAG		0.612	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2		NM_199069	
NRP1	8829	broad.mit.edu;hgsc.bcm.edu	37	10	33619643	33619643	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr10:33619643C>A	ENST00000265371.4	-	3	766	c.241G>T	c.(241-243)Gac>Tac	p.D81Y	NRP1_ENST00000374822.4_Missense_Mutation_p.D81Y|NRP1_ENST00000374821.5_Missense_Mutation_p.D81Y|NRP1_ENST00000374823.5_Missense_Mutation_p.D81Y|NRP1_ENST00000432372.2_Missense_Mutation_p.D81Y|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000395995.1_Missense_Mutation_p.D81Y|NRP1_ENST00000374867.2_Missense_Mutation_p.D81Y|NRP1_ENST00000374816.3_Missense_Mutation_p.D81Y			O14786	NRP1_HUMAN	neuropilin 1	81	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D81Y(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TACTTGCAGTCTCTGTCCTCC	0.478																																					Melanoma(104;886 1489 44640 45944 51153)												1	Substitution - Missense(1)	kidney(1)											120.0	103.0	109.0					10																	33619643		2203	4300	6503	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.241G>T	10.37:g.33619643C>A	ENSP00000265371:p.Asp81Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879745	0.91740	.	.	ENSG00000099250	ENST00000265371;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.99	5.99	0.97316	CUB (5);	0.047246	0.85682	D	0.000000	T	0.57562	0.2062	L	0.52126	1.63	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.986;0.998;0.999;0.999;0.999	D;D;D;P;D;D;D;D	0.71184	0.953;0.967;0.967;0.774;0.932;0.972;0.967;0.953	T	0.55630	-0.8111	10	0.87932	D	0	-46.1411	20.4777	0.99188	0.0:1.0:0.0:0.0	.	81;81;81;81;81;81;81;81	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.	Y	81	ENSP00000265371:D81Y;ENSP00000364001:D81Y;ENSP00000379317:D81Y;ENSP00000363955:D81Y;ENSP00000363954:D81Y;ENSP00000363956:D81Y;ENSP00000363949:D81Y	ENSP00000265371:D81Y	D	-	1	0	NRP1	33659649	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.379000	0.79691	2.840000	0.97914	0.655000	0.94253	GAC		0.478	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			
OR10J1	26476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159410089	159410089	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr1:159410089G>T	ENST00000423932.3	+	1	578	c.541G>T	c.(541-543)Gct>Tct	p.A181S	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	181					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A181S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ACCCTTCTGTGCTAGAAAGGT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											199.0	181.0	187.0					1																	159410089		2203	4300	6503	SO:0001583	missense	26476			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.541G>T	1.37:g.159410089G>T	ENSP00000399078:p.Ala181Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.163469	0.01673	.	.	ENSG00000196184	ENST00000423932	T	0.35421	1.31	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	1.128410	0.06925	N	0.810072	T	0.06645	0.0170	N	0.01761	-0.735	0.23277	N	0.997997	B	0.19200	0.034	B	0.19666	0.026	T	0.19745	-1.0296	10	0.15066	T	0.55	.	14.3909	0.66978	0.0:0.0:1.0:0.0	.	181	P30954	O10J1_HUMAN	S	181	ENSP00000399078:A181S	ENSP00000399078:A181S	A	+	1	0	OR10J1	157676713	0.000000	0.05858	0.933000	0.37362	0.135000	0.20990	-0.460000	0.06720	2.290000	0.77057	0.650000	0.86243	GCT		0.488	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1		NM_012351	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	CCGCCA	CCGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)																																								SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1		NM_032790	
PCDHGA5	56110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140745223	140745223	+	Silent	SNP	A	A	G	rs528991261		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr5:140745223A>G	ENST00000518069.1	+	1	1326	c.1326A>G	c.(1324-1326)gtA>gtG	p.V442V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	442	Cadherin 4. {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)	p.V442V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGAAAGTAGCAGACGTTA	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											106.0	111.0	109.0					5																	140745223		1919	4118	6037	SO:0001819	synonymous_variant	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1326A>G	5.37:g.140745223A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	CCDS54925.1																																																																																				0.478	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1		NM_018918	
PI4KA	5297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21115600	21115600	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr22:21115600T>C	ENST00000572273.1	-	23	2839	c.2609A>G	c.(2608-2610)gAc>gGc	p.D870G	PI4KA_ENST00000255882.6_Missense_Mutation_p.D928G|PI4KA_ENST00000466162.1_5'UTR			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	870					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.D870G(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|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;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACCAGATTTGTCTTTCTGAAT	0.363																																					GBM(136;1332 1831 3115 23601 50806)												2	Substitution - Missense(2)	kidney(2)											106.0	95.0	99.0					22																	21115600		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2609A>G	22.37:g.21115600T>C	ENSP00000458238:p.Asp870Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	T	27.6	4.847298	0.91277	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	M	0.78049	2.395	0.80722	D	1	D	0.55605	0.972	D	0.66716	0.946	T	0.76921	-0.2780	9	0.33141	T	0.24	-37.0067	15.3991	0.74823	0.0:0.0:0.0:1.0	.	870	P42356	PI4KA_HUMAN	G	870	.	ENSP00000255882:D870G	D	-	2	0	PI4KA	19445600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.234000	0.73211	0.533000	0.62120	GAC		0.363	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_058004	
PLA2G4E	123745	hgsc.bcm.edu	37	15	42302330	42302331	+	In_Frame_Ins	INS	-	-	CCC	rs267604201|rs55746726|rs202221046	byFrequency	TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr15:42302330_42302331insCCC	ENST00000413860.2	-	1	114_115	c.115_116insGGG	c.(115-117)gcc>gGGGcc	p.38_39insG	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	48	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CAGAACACTGGCCCCCCCACCC	0.594																																																	0										31,154,2,709,30,27,2681		3,3,0,14,1,0,7,50,0,12,5,2,32,0,2,0,0,0,174,14,10,309,3,0,4,3,9,1160						-0.0	0.0		dbSNP_130	62	31,182,0,1316,52,50,6229		3,0,0,17,0,1,7,33,0,26,1,8,81,0,0,0,0,0,240,23,6,764,6,1,15,4,26,2668	no	intron	PLA2G4E	NM_001206670.1		6,3,0,31,1,1,14,83,0,38,6,10,113,0,2,0,0,0,414,37,16,1073,9,1,19,7,35,3828	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		20.7506,26.2245,22.4813				62,336,2,2025,82,77,8910				SO:0001652	inframe_insertion	123745				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.113_115dupGGG	15.37:g.42302334_42302336dupCCC	ENSP00000413897:p.Gly38_Gly38dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZSC0	In_Frame_Ins	INS	ENST00000413860.2	37																																																																																					0.594	PLA2G4E-201	KNOWN	basic	protein_coding	protein_coding			NM_198442	
PPP1R12A	4659	hgsc.bcm.edu;ucsc.edu	37	12	80182470	80182471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr12:80182470_80182471insT	ENST00000450142.2	-	21	3025_3026	c.2759_2760insA	c.(2758-2760)tacfs	p.Y920fs	PPP1R12A_ENST00000546369.1_Frame_Shift_Ins_p.Y833fs|PPP1R12A_ENST00000437004.2_Frame_Shift_Ins_p.Y920fs|PPP1R12A_ENST00000261207.5_Frame_Shift_Ins_p.Y920fs|PPP1R12A_ENST00000550107.1_Frame_Shift_Ins_p.Y864fs	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	920					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCCTGCTGCTGTAAGGTTTTCT	0.347																																																	0																																										SO:0001589	frameshift_variant	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2760dupA	12.37:g.80182471_80182471dupT	ENSP00000389168:p.Tyr920fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Frame_Shift_Del	INS	ENST00000450142.2	37	CCDS44947.1																																																																																				0.347	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2		NM_002480	
PPP4R4	57718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94741786	94741786	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr14:94741786C>T	ENST00000304338.3	+	24	2679	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	842					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.S842F(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCGAGTACTTCCCGTGGGACA	0.448																																																	1	Substitution - Missense(1)	kidney(1)											212.0	197.0	202.0					14																	94741786		2203	4300	6503	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2525C>T	14.37:g.94741786C>T	ENSP00000305924:p.Ser842Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503603	0.85176	.	.	ENSG00000119698	ENST00000304338	.	.	.	6.02	6.02	0.97574	.	0.133902	0.51477	D	0.000082	T	0.66538	0.2799	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	P	0.59487	0.858	T	0.66799	-0.5832	9	0.66056	D	0.02	-11.5946	20.5373	0.99239	0.0:1.0:0.0:0.0	.	842	Q6NUP7	PP4R4_HUMAN	F	842	.	ENSP00000305924:S842F	S	+	2	0	PPP4R4	93811539	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.457000	0.66672	2.857000	0.98124	0.650000	0.86243	TCC		0.448	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1		NM_058237	
PRG4	10216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186277944	186277944	+	Silent	SNP	C	C	G	rs199545586		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr1:186277944C>G	ENST00000445192.2	+	7	3138	c.3093C>G	c.(3091-3093)ccC>ccG	p.P1031P	PRG4_ENST00000367486.3_Silent_p.P988P|PRG4_ENST00000367485.4_Silent_p.P938P|PRG4_ENST00000367483.4_Silent_p.P990P|PRG4_ENST00000367484.3_Silent_p.P560P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1031					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P1031P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAAAAAACCCACTTCTACCA	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											134.0	156.0	148.0					1																	186277944		2203	4300	6503	SO:0001819	synonymous_variant	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3093C>G	1.37:g.186277944C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																				0.418	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807	
RCBTB2	1102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	49086880	49086880	+	Silent	SNP	T	T	C	rs199638083		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr13:49086880T>C	ENST00000344532.3	-	7	924	c.501A>G	c.(499-501)ctA>ctG	p.L167L	RCBTB2_ENST00000544904.1_Silent_p.L143L|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000430805.2_Silent_p.L172L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	167					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.L167L(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CATCAGATGTTAGCACCAAAG	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											129.0	118.0	122.0					13																	49086880		2203	4300	6503	SO:0001819	synonymous_variant	1102			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.501A>G	13.37:g.49086880T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDW8	Silent	SNP	ENST00000344532.3	37	CCDS9411.1																																																																																				0.368	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2		NM_001268	
SC5D	6309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	121175086	121175086	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr11:121175086A>T	ENST00000392789.2	+	3	464	c.227A>T	c.(226-228)gAg>gTg	p.E76V	SC5D_ENST00000534230.1_Missense_Mutation_p.E76V|SC5D_ENST00000264027.4_Missense_Mutation_p.E76V	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	76					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.E76V(1)									GTCCGTCGAGAGATTAAGTTT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											127.0	122.0	124.0					11																	121175086		2203	4299	6502	SO:0001583	missense	6309				CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.227A>T	11.37:g.121175086A>T	ENSP00000376539:p.Glu76Val	Somatic		WXS	Illumina HiSeq	Phase_I	O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.923137	0.92319	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.88896	-1.96;-2.03;-2.44;-1.96	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.96377	0.8818	H	0.96080	3.765	0.58432	D	0.999994	D;D	0.89917	0.973;1.0	P;D	0.87578	0.841;0.998	D	0.97514	1.0068	10	0.87932	D	0	-14.6769	15.6232	0.76824	1.0:0.0:0.0:0.0	.	76;76	O75845;E9PQ91	SC5D_HUMAN;.	V	76;83;76;76	ENSP00000264027:E76V;ENSP00000436290:E83V;ENSP00000432550:E76V;ENSP00000376539:E76V	ENSP00000264027:E76V	E	+	2	0	SC5DL	120680296	1.000000	0.71417	0.994000	0.49952	0.951000	0.60555	9.300000	0.96151	2.326000	0.78906	0.533000	0.62120	GAG		0.353	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1		NM_001024956	
SLX4	84464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3658538	3658538	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr16:3658538A>T	ENST00000294008.3	-	2	1068	c.428T>A	c.(427-429)gTg>gAg	p.V143E		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	143	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.V143E(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGAGGCAAGCACACCCCCCTC	0.552								Direct reversal of damage																																									1	Substitution - Missense(1)	kidney(1)											102.0	99.0	100.0					16																	3658538		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.428T>A	16.37:g.3658538A>T	ENSP00000294008:p.Val143Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528344	0.64860	.	.	ENSG00000188827	ENST00000294008	T	0.01725	4.67	5.53	-0.519	0.11939	.	1.022250	0.07842	N	0.963246	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	P	0.54100	0.742	T	0.54248	-0.8322	10	0.72032	D	0.01	.	8.6206	0.33859	0.5599:0.0:0.4401:0.0	.	143	Q8IY92	SLX4_HUMAN	E	143	ENSP00000294008:V143E	ENSP00000294008:V143E	V	-	2	0	SLX4	3598539	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.863000	0.27913	-0.078000	0.12730	0.528000	0.53228	GTG		0.552	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444	
TAPT1	202018	broad.mit.edu;hgsc.bcm.edu	37	4	16165153	16165153	+	Silent	SNP	G	G	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr4:16165153G>T	ENST00000405303.2	-	14	1565	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	TAPT1_ENST00000399920.3_Silent_p.S383S|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	494					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)	p.S494S(1)		NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTTCTTCTGTGGAAAGGCCTG	0.333																																																	1	Substitution - coding silent(1)	kidney(1)											55.0	51.0	52.0					4																	16165153		1843	4110	5953	SO:0001819	synonymous_variant	202018			AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1482C>A	4.37:g.16165153G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	CCDS47030.1																																																																																				0.333	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1		NM_153365	
TMCC2	9911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205238192	205238192	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr1:205238192G>A	ENST00000358024.3	+	3	1251	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.A63T|TMCC2_ENST00000545499.1_Missense_Mutation_p.A210T|TMCC2_ENST00000329800.7_Missense_Mutation_p.A48T	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	288						integral component of membrane (GO:0016021)		p.A63T(1)|p.A288T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GACCAAGGCCGCCATTGACCA	0.642																																																	2	Substitution - Missense(2)	kidney(2)											47.0	45.0	45.0					1																	205238192		2203	4300	6503	SO:0001583	missense	9911			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.862G>A	1.37:g.205238192G>A	ENSP00000350718:p.Ala288Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804748	0.50315	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	T;T;T;T;T	0.62232	0.81;0.81;0.04;0.81;0.81	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.70842	2.15	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.604	D;D;D;B	0.97110	1.0;0.999;1.0;0.274	T	0.74615	-0.3606	10	0.22706	T	0.39	.	15.9275	0.79632	0.0:0.0:0.8636:0.1364	.	84;48;63;288	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	T	288;210;92;63;48	ENSP00000350718:A288T;ENSP00000437943:A210T;ENSP00000356127:A92T;ENSP00000331842:A63T;ENSP00000329436:A48T	ENSP00000329436:A48T	A	+	1	0	TMCC2	203504815	1.000000	0.71417	0.880000	0.34516	0.001000	0.01503	9.835000	0.99442	1.447000	0.47661	-0.314000	0.08810	GCC		0.642	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1		NM_014858	
TP63	8626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	189586470	189586470	+	Missense_Mutation	SNP	C	C	T	rs147148566		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr3:189586470C>T	ENST00000264731.3	+	8	1183	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	TP63_ENST00000392460.3_Missense_Mutation_p.S365L|TP63_ENST00000392463.2_Missense_Mutation_p.S271L|TP63_ENST00000449992.1_Missense_Mutation_p.S186L|TP63_ENST00000320472.5_Missense_Mutation_p.S365L|TP63_ENST00000440651.2_Missense_Mutation_p.S365L|TP63_ENST00000392461.3_Missense_Mutation_p.S271L|TP63_ENST00000354600.5_Missense_Mutation_p.S271L|TP63_ENST00000456148.1_Missense_Mutation_p.S271L|TP63_ENST00000382063.4_Missense_Mutation_p.S280L|TP63_ENST00000418709.2_Missense_Mutation_p.S365L|TP63_ENST00000437221.1_Missense_Mutation_p.S271L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.S365L(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGCAAGTTTCGGACAGTACA	0.537										HNSCC(45;0.13)																																							3	Substitution - Missense(3)	skin(2)|kidney(1)											129.0	122.0	124.0					3																	189586470		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1094C>T	3.37:g.189586470C>T	ENSP00000264731:p.Ser365Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021890	0.54576	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99660	-5.98;-6.23;-6.22;-6.22;-5.96;-6.32;-5.98;-6.24;-6.22;-6.21;-6.32;-5.96	6.03	6.03	0.97812	.	0.057185	0.64402	D	0.000001	D	0.97942	0.9323	N	0.14661	0.345	0.80722	D	1	P;B;B;B;P;P;B;B;P;P	0.38473	0.596;0.003;0.003;0.002;0.464;0.464;0.212;0.005;0.5;0.633	B;B;B;B;B;B;B;B;B;B	0.38156	0.266;0.003;0.002;0.001;0.132;0.183;0.062;0.003;0.089;0.183	D	0.98824	1.0748	9	.	.	.	-4.2957	19.5548	0.95338	0.0:1.0:0.0:0.0	.	186;365;365;271;271;271;271;365;365;365	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	L	365;365;365;365;365;280;271;271;271;271;186;271	ENSP00000264731:S365L;ENSP00000407144:S365L;ENSP00000317510:S365L;ENSP00000376253:S365L;ENSP00000394337:S365L;ENSP00000371495:S280L;ENSP00000346614:S271L;ENSP00000392488:S271L;ENSP00000376256:S271L;ENSP00000376254:S271L;ENSP00000387839:S186L;ENSP00000389485:S271L	.	S	+	2	0	TP63	191069164	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.593000	0.54001	2.854000	0.98071	0.655000	0.94253	TCG		0.537	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1		NM_003722	
RPP21	79897	hgsc.bcm.edu	37	6	30313340	30313340	+	Missense_Mutation	SNP	G	G	C	rs6986	byFrequency	TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr6:30313340G>C	ENST00000442966.2	+	3	244	c.231G>C	c.(229-231)caG>caC	p.Q77H	TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.Q338H|RPP21_ENST00000436442.2_Missense_Mutation_p.Q77H|RPP21_ENST00000433076.2_Missense_Mutation_p.Q85H|RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000428040.2_Missense_Mutation_p.Q100H			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	77			Q -> H (in dbSNP:rs6986). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						CCTGCACCCAGCGCCAGAGAC	0.697													G|||	1302	0.259984	0.2905	0.1816	5008	,	,		7455	0.1667		0.2545	False		,,,				2504	0.3763																0								G	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	952,2048		158,636,706	14.0	9.0	11.0		1278,255,231,231	4.7	1.0	6	dbSNP_52	11	1197,4197		151,895,1651	yes	missense,missense,missense,missense	RPP21,TRIM39-RPP21	NM_001199119.1,NM_001199120.1,NM_001199121.1,NM_024839.2	24,24,24,24	309,1531,2357	CC,CG,GG		22.1913,31.7333,25.6016	,,,	426/504,85/163,77/145,77/155	30313340	2149,6245	1500	2697	4197	SO:0001583	missense	202658			AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"""chromosome 6 open reading frame 135"", ""ribonuclease P 21kDa subunit"""	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.231G>C	6.37:g.30313340G>C	ENSP00000403833:p.Gln77His	Somatic		WXS	Illumina HiSeq	Phase_I	A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Silent	SNP	ENST00000442966.2	37	CCDS4679.1	489	0.2239010989010989	134	0.27235772357723576	69	0.19060773480662985	93	0.16258741258741258	193	0.2546174142480211	G	16.57	3.159557	0.57368	0.317333	0.221913	ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370;ENSG00000241370	ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040;ENST00000436442	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.53	4.66	0.58398	.	0.397524	0.25564	N	0.029811	T	0.36771	0.0979	N	0.25890	0.77	0.31574	P	0.655968	D;B;B;B	0.69078	0.997;0.106;0.245;0.004	D;B;B;B	0.71870	0.975;0.019;0.048;0.004	T	0.46707	-0.9172	9	0.87932	D	0	-5.2369	10.8448	0.46737	0.0876:0.0:0.9124:0.0	rs6986;rs1137108;rs2516690;rs3179290;rs3200884;rs11557496;rs17341450;rs17353244;rs17362218;rs6986	340;77;77;100	F5H2V3;Q9H633-3;Q9H633;Q9H633-2	.;.;RPP21_HUMAN;.	H	340;338;85;77;100;77	ENSP00000424048:Q338H;ENSP00000409799:Q85H;ENSP00000403833:Q77H;ENSP00000394320:Q100H;ENSP00000397778:Q77H	ENSP00000394320:Q100H	Q	+	3	2	RPP21;TRIM39-RPP21;TRIM39	30421319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.966000	0.56795	1.466000	0.48025	0.650000	0.86243	CAG		0.697	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2		NM_024839	
AVIL	10677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58190297	58190297	+	IGR	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr12:58190297G>A	ENST00000257861.3	-	0	2891				TSFM_ENST00000454289.3_Silent_p.Q303Q|TSFM_ENST00000323833.8_Silent_p.Q324Q|TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000350762.5_Silent_p.Q263Q|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000548851.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.Q303Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGCAGCCTCAGGGGGTGTCGG	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											63.0	57.0	59.0					12																	58190297		2203	4300	6503	SO:0001628	intergenic_variant	10102			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461		12.37:g.58190297G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	CCDS8959.1																																																																																				0.537	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1		NM_006576	
TUBA8	51807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	18609612	18609612	+	Silent	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr22:18609612C>A	ENST00000330423.3	+	4	940	c.867C>A	c.(865-867)gcC>gcA	p.A289A	TUBA8_ENST00000316027.6_Silent_p.A223A	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	289					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A289A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TCTCTGTGGCCGAGATAACCA	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	92.0	99.0					22																	18609612		2203	4300	6503	SO:0001819	synonymous_variant	51807			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.867C>A	22.37:g.18609612C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Silent	SNP	ENST00000330423.3	37	CCDS13751.1																																																																																				0.602	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3		NM_018943	
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10191492	10191492	+	Missense_Mutation	SNP	G	G	T	rs397516444|rs5030622		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr3:10191492G>T	ENST00000256474.2	+	3	1325	c.485G>T	c.(484-486)tGc>tTc	p.C162F	VHL_ENST00000345392.2_Missense_Mutation_p.C121F|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	162	Interaction with Elongin BC complex.		C -> F (in VHLD; type I; No effect on interaction with HIF1A nor on HIF1A degradation). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9452032, ECO:0000269|PubMed:9829911}.|C -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|C -> W (in VHLD; type I-II; dbSNP:rs5030622). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|C -> Y (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.C162Y(5)|p.C162F(3)|p.L158fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AAAGAGCGATGCCTCCAGGTT	0.507		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	9	Substitution - Missense(8)|Deletion - Frameshift(1)	kidney(9)	GRCh37	CI011898|CM951291|CM951292	VHL	I|M							94.0	85.0	88.0					3																	10191492		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.485G>T	3.37:g.10191492G>T	ENSP00000256474:p.Cys162Phe	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735262	0.69189	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.108704	0.64402	D	0.000008	D	0.99725	0.9893	M	0.66939	2.045	0.48511	D	0.99966	D;D	0.89917	0.997;1.0	D;D	0.78314	0.982;0.991	D	0.96980	0.9714	10	0.87932	D	0	-7.1517	15.8663	0.79067	0.0:0.0:1.0:0.0	.	121;162	P40337-2;P40337	.;VHL_HUMAN	F	162;121;80	ENSP00000256474:C162F;ENSP00000344757:C121F	ENSP00000256474:C162F	C	+	2	0	VHL	10166492	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	4.965000	0.63708	2.676000	0.91093	0.655000	0.94253	TGC		0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
XPNPEP2	7512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	128895243	128895243	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chrX:128895243G>T	ENST00000371106.3	+	17	1786	c.1594G>T	c.(1594-1596)Gtg>Ttg	p.V532L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	532						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.V532L(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTTCCTGTGTGTGCATGAGTG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											141.0	106.0	117.0					X																	128895243		2203	4300	6503	SO:0001583	missense	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1594G>T	X.37:g.128895243G>T	ENSP00000360147:p.Val532Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915988	0.73098	.	.	ENSG00000122121	ENST00000371106	T	0.77489	-1.1	5.46	5.46	0.80206	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P, conserved site (1);Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.91143	0.7211	H	0.94620	3.56	0.52099	D	0.999945	D	0.69078	0.997	D	0.68943	0.961	D	0.93617	0.6944	10	0.87932	D	0	-11.1729	16.9949	0.86365	0.0:0.0:1.0:0.0	.	532	O43895	XPP2_HUMAN	L	532	ENSP00000360147:V532L	ENSP00000360147:V532L	V	+	1	0	XPNPEP2	128722924	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	7.436000	0.80404	2.276000	0.75962	0.513000	0.50165	GTG		0.527	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1		NM_003399	
EML3	256364	broad.mit.edu	37	11	62373575	62373575	+	Missense_Mutation	SNP	A	A	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr11:62373575A>C	ENST00000394773.2	-	13	1923	c.1616T>G	c.(1615-1617)gTa>gGa	p.V539G	EML3_ENST00000278845.4_Missense_Mutation_p.V540G|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Missense_Mutation_p.V539G|EML3_ENST00000531557.1_Missense_Mutation_p.V322G|EML3_ENST00000494176.2_Missense_Mutation_p.V511G|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	539						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.V539G(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCCACTGTACCAGCCGGCG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											47.0	63.0	57.0					11																	62373575		2202	4298	6500	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1616T>G	11.37:g.62373575A>C	ENSP00000378254:p.Val539Gly	Somatic		WXS	Illumina GAIIx	Phase_I	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954809	0.73902	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.30448	1.66;1.62;1.53;1.53;1.53	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.065378	0.64402	D	0.000011	T	0.55242	0.1908	M	0.79258	2.445	0.58432	D	0.999995	D;D;P;D;D	0.76494	0.999;0.999;0.865;0.998;0.975	D;D;B;P;P	0.71656	0.974;0.942;0.355;0.878;0.796	T	0.60949	-0.7161	10	0.87932	D	0	-11.7828	13.1078	0.59257	1.0:0.0:0.0:0.0	.	539;539;322;540;511	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	G	539;540;322;511;539	ENSP00000378254:V539G;ENSP00000278845:V540G;ENSP00000433417:V322G;ENSP00000435064:V511G;ENSP00000434513:V539G	ENSP00000278845:V540G	V	-	2	0	EML3	62130151	1.000000	0.71417	0.914000	0.36105	0.963000	0.63663	6.647000	0.74354	1.983000	0.57843	0.383000	0.25322	GTA		0.647	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1		NM_153265	
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr20:29624093G>T	ENST00000278882.3	+	4	496		c.e4+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B									p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299																																																	6	Unknown(6)	kidney(4)|prostate(2)																																								SO:0001630	splice_region_variant	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.116+1G>T	20.37:g.29624093G>T		Somatic		WXS	Illumina GAIIx	Phase_I	C4AME5	Splice_Site	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	.	11.58	1.679853	0.29783	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.91	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8627	0.41125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1B	28237754	1.000000	0.71417	0.991000	0.47740	0.586000	0.36452	7.759000	0.85235	1.383000	0.46405	0.184000	0.17185	.		0.299	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2		NR_003579	Intron
HERC2P2	400322	broad.mit.edu	37	15	23335621	23335621	+	RNA	SNP	C	C	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr15:23335621C>T	ENST00000560464.1	-	0	519									hect domain and RLD 2 pseudogene 2																		ATGTCACTTTCTCATTATTTC	0.363																																																	0																																												400322			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23335621C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000560464.1	37																																																																																					0.363	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			
HSF4	3299	broad.mit.edu	37	16	67199696	67199696	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr16:67199696C>A	ENST00000521374.1	+	3	307	c.307C>A	c.(307-309)Cac>Aac	p.H103N	HSF4_ENST00000584272.1_Missense_Mutation_p.H103N|HSF4_ENST00000264009.8_Missense_Mutation_p.H103N|HSF4_ENST00000421453.1_Missense_Mutation_p.H103N			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	103					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.H103N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CGAGTTCCAGCACCCGAGCTT	0.706																																																	1	Substitution - Missense(1)	kidney(1)											11.0	15.0	14.0					16																	67199696		1978	4151	6129	SO:0001583	missense	3299			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.307C>A	16.37:g.67199696C>A	ENSP00000430947:p.His103Asn	Somatic		WXS	Illumina GAIIx	Phase_I	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997273	0.93167	.	.	ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.86	4.86	0.63082	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	N	0.20328	0.56	0.80722	D	1	D;B	0.71674	0.998;0.349	D;B	0.79108	0.992;0.153	D	0.88322	0.2963	10	0.12766	T	0.61	-2.2415	16.7364	0.85448	0.0:1.0:0.0:0.0	.	103;103	Q9ULV5-2;Q9ULV5	.;HSF4_HUMAN	N	103;103;103;103;61	ENSP00000408815:H103N;ENSP00000264009:H103N;ENSP00000428978:H103N;ENSP00000430947:H103N;ENSP00000430299:H61N	ENSP00000264009:H103N	H	+	1	0	HSF4	65757197	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.490000	0.81461	2.521000	0.84997	0.561000	0.74099	CAC		0.706	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1		NM_001538	
Unknown	0	broad.mit.edu	37	12	9453702	9453702	+	IGR	SNP	C	C	T			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr12:9453702C>T								SNORA75 (14284 upstream) : RP13-735L24.1 (66357 downstream)														p.P370S(2)									GGTGGTGCTGCCCTATCAGAT	0.662																																																	2	Substitution - Missense(2)	kidney(1)|endometrium(1)																																								SO:0001628	intergenic_variant	642846																															12.37:g.9453702C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.662									
TPTEP1	387590	broad.mit.edu	37	22	17119476	17119476	+	lincRNA	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr22:17119476G>A	ENST00000426585.1	+	0	288									transmembrane phosphatase with tensin homology pseudogene 1																		TAGACTATTTGGAGTTTTCCT	0.323																																																	0																																												0					22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17119476G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000426585.1	37																																																																																					0.323	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1		NR_001591	
RANGAP1	5905	broad.mit.edu	37	22	41652800	41652800	+	Missense_Mutation	SNP	A	A	C			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr22:41652800A>C	ENST00000455915.2	-	7	2272	c.803T>G	c.(802-804)gTg>gGg	p.V268G	RANGAP1_ENST00000405486.1_Missense_Mutation_p.V268G|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V268G|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V213G			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	268					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.V268G(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAATTAATCACCTCCACCTG	0.637																																																	3	Substitution - Missense(3)	lung(1)|kidney(1)|central_nervous_system(1)																																								SO:0001583	missense	5905			X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.803T>G	22.37:g.41652800A>C	ENSP00000401470:p.Val268Gly	Somatic		WXS	Illumina GAIIx	Phase_I	Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.957792	0.53400	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.54675	0.56;0.56;0.56;0.57	5.55	2.25	0.28309	.	0.110704	0.64402	N	0.000009	T	0.50086	0.1595	M	0.74389	2.26	0.80722	D	1	P;B	0.40909	0.732;0.073	B;B	0.41619	0.361;0.13	T	0.43702	-0.9375	10	0.45353	T	0.12	-13.1324	6.3748	0.21501	0.7263:0.1339:0.1398:0.0	.	213;268	F8W7I9;P46060	.;RAGP1_HUMAN	G	268;268;268;268;213	ENSP00000385866:V268G;ENSP00000348577:V268G;ENSP00000401470:V268G;ENSP00000385354:V213G	ENSP00000348577:V268G	V	-	2	0	RANGAP1	39982746	1.000000	0.71417	0.999000	0.59377	0.711000	0.40976	3.113000	0.50376	0.382000	0.24878	0.379000	0.24179	GTG		0.637	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1		NM_002883	
ROCK1	6093	broad.mit.edu	37	18	18535179	18535179	+	Silent	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr18:18535179G>A	ENST00000399799.2	-	30	4480	c.3540C>T	c.(3538-3540)acC>acT	p.T1180T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1180	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T1180T(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CATCTCCTTGGGTTACAGGTC	0.299																																																	1	Substitution - coding silent(1)	kidney(1)											10.0	10.0	10.0					18																	18535179		2147	4229	6376	SO:0001819	synonymous_variant	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3540C>T	18.37:g.18535179G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	CCDS11870.2																																																																																				0.299	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2		NM_005406	
XIRP2	129446	broad.mit.edu	37	2	168105254	168105254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr2:168105254C>A	ENST00000409195.1	+	9	7441	c.7352C>A	c.(7351-7353)tCa>tAa	p.S2451*	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S2229*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S2451*|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2276					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S2451*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCTCCCTGTCAGATATGGAA	0.413																																																	1	Substitution - Nonsense(1)	kidney(1)											84.0	84.0	84.0					2																	168105254		1857	4115	5972	SO:0001587	stop_gained	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7352C>A	2.37:g.168105254C>A	ENSP00000386840:p.Ser2451*	Somatic		WXS	Illumina GAIIx	Phase_I	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	47	13.035416	0.99715	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.85	4.07	0.47477	.	1.295740	0.05306	N	0.523869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6298	5.0402	0.14454	0.1463:0.6262:0.0:0.2275	.	.	.	.	X	2451;2451;2229	.	ENSP00000295237:S2451X	S	+	2	0	XIRP2	167813500	0.365000	0.25006	0.016000	0.15963	0.358000	0.29455	2.142000	0.42177	0.829000	0.34733	0.643000	0.83706	TCA		0.413	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381	
ZNF702P	79986	broad.mit.edu	37	19	53472545	53472545	+	RNA	SNP	G	G	A			TCGA-EU-5904-01A-11D-1669-08	TCGA-EU-5904-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b13e89f1-683b-4261-94a1-e371d797237f	c4f88bd8-ef81-4eee-8ff3-8320fa1d4442	g.chr19:53472545G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							ACTTCATTATGCATTCTCCAA	0.363																																																	0																																												79986																															19.37:g.53472545G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000600068.1	37																																																																																					0.363	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			
