#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VWF	7450	broad.mit.edu	37	12	6204449	6204449	+	Intron	SNP	G	G	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr12:6204449G>T	ENST00000261405.5	-	6	912				VWF_ENST00000572068.1_3'UTR|RN7SL69P_ENST00000468423.2_RNA	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCATTTTTAGAGCTTCAGGC	0.423																																						uc001qno.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.e7+1		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)																																			SO:0001627	intron_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	g.chr12:6204449G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.657+176C>A	12.37:g.6204449G>T			Somatic				VWF_uc001qnn.1_Intron|VWF_uc010set.1_Intron				WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			7	1326	-								Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	c.945_splice	CCDS8539.1																																																																																				0.423	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	21	0	0	0	1	0	3	21				
TCP11L2	255394	broad.mit.edu	37	12	106715426	106715426	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr12:106715426G>C	ENST00000299045.3	+	5	751	c.577G>C	c.(577-579)Gtg>Ctg	p.V193L	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000546625.1_Missense_Mutation_p.V193L|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	193										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GTGTGCTCCCGTGCGAGATAA	0.493																																						uc001tln.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(577-579)Gtg>Ctg		Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.							173.0	156.0	162.0					12																	106715426		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106715426G>C	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.577G>C	12.37:g.106715426G>C	ENSP00000299045:p.Val193Leu		Somatic				TCP11L2_uc001tll.3_Missense_Mutation_p.V193L|TCP11L2_uc001tlm.3_Missense_Mutation_p.V193L	p.V193L	NM_152772	NP_689985	WXS	Illumina GAIIx	Phase_I	Q8N4U5	T11L2_HUMAN			4	751	+			193					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.577G>C	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549194	0.65311	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	6.07	5.18	0.71444	.	0.297969	0.36234	N	0.002719	T	0.22513	0.0543	M	0.79805	2.47	0.23616	N	0.997285	P;P;B	0.46859	0.838;0.885;0.338	P;B;B	0.48063	0.565;0.429;0.058	T	0.16247	-1.0409	10	0.12430	T	0.62	-20.4283	10.2898	0.43588	0.2038:0.0:0.7962:0.0	.	193;193;193	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	L	193	ENSP00000448952:V193L;ENSP00000299045:V193L;ENSP00000449123:V193L;ENSP00000448629:V193L	ENSP00000299045:V193L	V	+	1	0	TCP11L2	105239556	0.229000	0.23729	0.869000	0.34112	0.978000	0.69477	1.286000	0.33273	1.570000	0.49709	0.655000	0.94253	GTG		0.493	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		3	82	0	0	0	1	0	3	82				
ARVCF	421	broad.mit.edu	37	22	19960732	19960732	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:19960732A>G	ENST00000263207.3	-	14	2639	c.2348T>C	c.(2347-2349)aTc>aCc	p.I783T	ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	783					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GATTTCGTGGATGGTGTTGAG	0.672																																						uc002zqz.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2347-2349)aTc>aCc		Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.							33.0	27.0	29.0					22																	19960732		2198	4294	6492	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960732A>G		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2348T>C	22.37:g.19960732A>G	ENSP00000263207:p.Ile783Thr		Somatic				ARVCF_uc002zqy.3_Missense_Mutation_p.I299T	p.I783T	NM_001670	NP_001661	WXS	Illumina GAIIx	Phase_I	O00192	ARVC_HUMAN			13	2618	-	Colorectal(54;0.0993)		783					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2348T>C	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.890383	0.72524	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	4.34	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.79475	2.455	0.80722	D	1	B;P	0.37914	0.145;0.611	B;B	0.41332	0.112;0.354	T	0.60682	-0.7215	9	.	.	.	-13.0459	12.9426	0.58354	1.0:0.0:0.0:0.0	.	783;299	O00192;E7EV58	ARVC_HUMAN;.	T	783;720;720;714;777	ENSP00000263207:I783T;ENSP00000342042:I720T;ENSP00000384341:I720T;ENSP00000384732:I714T;ENSP00000385444:I777T	.	I	-	2	0	ARVCF	18340732	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.582000	0.74049	1.956000	0.56807	0.459000	0.35465	ATC		0.672	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		6	11	0	0	0	1	0	6	11				
WDR45	11152	broad.mit.edu	37	X	48933589	48933589	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chrX:48933589C>A	ENST00000376372.3	-	7	633	c.452G>T	c.(451-453)tGc>tTc	p.C151F	WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000356463.3_Missense_Mutation_p.C152F|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|AF196779.12_ENST00000376358.3_Missense_Mutation_p.C49F	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	151					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAGGCTGGGGCAGAGGTCACA	0.597																																						uc004dml.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(454-456)tGc>tTc		Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.							56.0	44.0	48.0					X																	48933589		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933589C>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.452G>T	X.37:g.48933589C>A	ENSP00000365551:p.Cys151Phe		Somatic				WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Missense_Mutation_p.C49F|WDR45_uc004dmj.1_Missense_Mutation_p.C112F|WDR45_uc004dmk.1_Missense_Mutation_p.C151F|WDR45_uc004dmn.1_Missense_Mutation_p.C42F|WDR45_uc004dmp.1_Missense_Mutation_p.C152F	p.C152F	NM_007075	NP_009006	WXS	Illumina GAIIx	Phase_I	Q9Y484	WIPI4_HUMAN			6	627	-			151					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.455G>T	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993589	0.54041	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000376358	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	3.92	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.83118	2.625	0.80722	D	1	D;B;B;B;B;P	0.56287	0.975;0.003;0.005;0.007;0.001;0.939	B;B;B;B;B;P	0.50192	0.356;0.003;0.011;0.011;0.011;0.634	D	0.87352	0.2338	10	0.87932	D	0	-14.9901	14.6881	0.69065	0.0:1.0:0.0:0.0	.	49;151;162;116;152;151	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;.;WIPI4_HUMAN	F	49;151;162;152;116;151;152;151;84;117;176;169;127;49	ENSP00000451962:C49F;ENSP00000365551:C151F;ENSP00000365543:C162F;ENSP00000348848:C152F;ENSP00000419897:C116F;ENSP00000417211:C151F;ENSP00000365546:C152F;ENSP00000379913:C151F;ENSP00000418466:C84F;ENSP00000418919:C117F;ENSP00000420728:C176F;ENSP00000393640:C169F;ENSP00000419324:C127F;ENSP00000365536:C49F	ENSP00000365536:C49F	C	-	2	0	AF196779.12;WDR45	48820533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.533000	0.67160	1.896000	0.54893	0.532000	0.56150	TGC		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		11	12	0	0	0	1	0	11	12				
ATP6V0C	527	broad.mit.edu	37	16	2569368	2569368	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr16:2569368G>T	ENST00000330398.4	+	2	463	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|AMDHD2_ENST00000413459.3_5'Flank|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R372L|AMDHD2_ENST00000302956.4_5'Flank|AMDHD2_ENST00000293971.6_5'Flank|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	77					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				AGTCCTCATCGCCAACTCCCT	0.612																																						uc002cqm.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(1114-1116)cGc>cTc		Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 2, mRNA.							91.0	69.0	76.0					16																	2569368		2198	4300	6498	SO:0001583	missense	57465				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding	g.chr16:2569368G>T	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.229G>T	16.37:g.2569368G>T	ENSP00000329757:p.Ala77Ser		Somatic				ATP6V0C_uc021tav.1_Missense_Mutation_p.A77S|ATP6V0C_uc002cqn.3_Missense_Mutation_p.A77S|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank	p.R372L	NM_020705	NP_065756	WXS	Illumina GAIIx	Phase_I	Q9ULP9	TBC24_HUMAN			1	1230	+			0			TLD.		Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	c.1115G>T	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262072	0.39995	.	.	ENSG00000185883	ENST00000330398	T	0.40225	1.04	4.85	3.9	0.45041	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	N	0.12611	0.24	0.58432	D	0.999998	B	0.15719	0.014	B	0.22386	0.039	T	0.04522	-1.0945	10	0.13108	T	0.6	-3.3277	11.9352	0.52870	0.0854:0.0:0.9146:0.0	.	77	P27449	VATL_HUMAN	S	77	ENSP00000329757:A77S	ENSP00000329757:A77S	A	+	1	0	ATP6V0C	2509369	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.895000	0.87343	1.055000	0.40461	-0.265000	0.10407	GCC		0.612	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		3	64	0	0	0	1	0	3	64				
MYH1	4619	broad.mit.edu	37	17	10402290	10402290	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr17:10402290C>A	ENST00000226207.5	-	29	4079		c.e29+1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGGAGCTTACCTTTATCTCC	0.398																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.e29+1		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							185.0	162.0	170.0					17																	10402290		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:10402290C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3984+1G>T	17.37:g.10402290C>A			Somatic				AK097500_uc002gml.1_Intron	p.K1328_splice	NM_005963	NP_005954	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			29	4078	-			1328					Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37	c.3984_splice	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948968	0.73787	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4571	0.94897	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10343015	1.000000	0.71417	0.994000	0.49952	0.649000	0.38597	7.750000	0.85110	2.690000	0.91761	0.655000	0.94253	.		0.398	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Intron	5	56	0	0	0	1	0	5	56				
SPOCK3	50859	broad.mit.edu	37	4	167810357	167810357	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr4:167810357C>A	ENST00000357154.3	-	7	659	c.522G>T	c.(520-522)caG>caT	p.Q174H	SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	174	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGACTGAGATCTGTTTTCCTA	0.328																																						uc011cjq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(547-549)caG>caT		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							128.0	121.0	123.0					4																	167810357		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167810357C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.522G>T	4.37:g.167810357C>A	ENSP00000349677:p.Gln174His		Somatic				SPOCK3_uc021xuf.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjr.1_Missense_Mutation_p.Q54H|SPOCK3_uc003iri.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjs.1_Missense_Mutation_p.Q123H|SPOCK3_uc003irj.1_Missense_Mutation_p.Q171H|SPOCK3_uc011cjt.1_Missense_Mutation_p.Q82H|SPOCK3_uc011cjp.2_Missense_Mutation_p.Q171H|SPOCK3_uc011cju.1_Missense_Mutation_p.Q78H|SPOCK3_uc011cjv.1_Missense_Mutation_p.Q76H|SPOCK3_uc003irk.4_Missense_Mutation_p.Q171H|SPOCK3_uc011cjw.1_Non-coding_Transcript	p.Q183H	NM_001204353	NP_001191282	WXS	Illumina GAIIx	Phase_I	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	4	606	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	174			Kazal-like.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.549G>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096084	0.36952	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;0.91;3.58;3.58;3.58;0.91;3.58;3.58	5.17	3.35	0.38373	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.198219	0.44688	N	0.000421	T	0.50429	0.1615	L	0.45422	1.42	0.41111	D	0.985743	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.999;0.998;0.998;0.998;0.998	P;D;D;D;D;D;D;D	0.85130	0.897;0.969;0.968;0.997;0.996;0.969;0.994;0.996	T	0.44711	-0.9310	10	0.45353	T	0.12	-14.5186	6.7286	0.23371	0.1413:0.6877:0.0:0.171	.	76;78;123;183;171;174;171;174	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;.;TICN3_HUMAN	H	174;171;171;174;174;174;171;54;76;171;82;123;76;78;171	ENSP00000349677:Q174H;ENSP00000350153:Q171H;ENSP00000425570:Q171H;ENSP00000420920:Q174H;ENSP00000423421:Q174H;ENSP00000423606:Q174H;ENSP00000426716:Q171H;ENSP00000444789:Q54H;ENSP00000426318:Q76H;ENSP00000425502:Q171H;ENSP00000441396:Q82H;ENSP00000411344:Q123H;ENSP00000445430:Q76H;ENSP00000438142:Q78H;ENSP00000426177:Q171H	ENSP00000349677:Q174H	Q	-	3	2	SPOCK3	168046932	1.000000	0.71417	0.798000	0.32154	0.237000	0.25408	0.795000	0.26972	0.599000	0.29845	0.650000	0.86243	CAG		0.328	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			22	33	0	0	0	1	0	22	33				
IDE	3416	broad.mit.edu	37	10	94214212	94214212	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr10:94214212C>T	ENST00000265986.6	-	25	3105	c.3049G>A	c.(3049-3051)Gca>Aca	p.A1017T	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.A462T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1017					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	CAGAGTTTTGCAGCCATGAAG	0.433																																						uc001kia.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(3049-3051)Gca>Aca		Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151.0	151.0	151.0					10																	94214212		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94214212C>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.3049G>A	10.37:g.94214212C>T	ENSP00000265986:p.Ala1017Thr		Somatic				IDE_uc010qnp.2_Missense_Mutation_p.A462T|IDE_uc001khz.3_Missense_Mutation_p.A462T	p.A1017T	NM_004969	NP_004960	WXS	Illumina GAIIx	Phase_I	P14735	IDE_HUMAN			24	3125	-			1017					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.3049G>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955730	0.73902	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.34859	1.34;1.35	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.47716	1.5	0.58432	D	0.999999	B;D	0.54207	0.292;0.965	B;P	0.46299	0.038;0.511	T	0.04495	-1.0947	10	0.24483	T	0.36	-13.0314	20.2789	0.98501	0.0:1.0:0.0:0.0	.	1017;462	P14735;B3KSB8	IDE_HUMAN;.	T	1017;462	ENSP00000265986:A1017T;ENSP00000360637:A462T	ENSP00000265986:A1017T	A	-	1	0	IDE	94204192	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.475000	0.66787	2.788000	0.95919	0.650000	0.86243	GCA		0.433	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		4	129	0	0	0	1	0	4	129				
PTPRD	5789	broad.mit.edu	37	9	8499764	8499764	+	Silent	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr9:8499764G>A	ENST00000381196.4	-	22	2748	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	735	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P735P(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATTGGGCACGGGTGAGCGCC	0.483										TSP Lung(15;0.13)																												uc003zkk.3																			1	Substitution - coding silent(1)	p.P735P(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2203-2205)ccC>ccT		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							172.0	150.0	157.0					9																	8499764		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499764G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2205C>T	9.37:g.8499764G>A		TSP Lung(15;0.13)	Somatic				PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	p.P735P	NM_002839	NP_002830	WXS	Illumina GAIIx	Phase_I	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	24	2948	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	735			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2205C>T	CCDS43786.1																																																																																				0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	89	0	0	0	1	0	3	89				
RFWD2	64326	broad.mit.edu	37	1	176054931	176054931	+	Silent	SNP	T	T	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr1:176054931T>C	ENST00000367669.3	-	10	1636	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	RFWD2_ENST00000308769.8_Silent_p.T350T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	374					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGACATCCTTGTAGAAAAGT	0.348																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1																			0		p.T374I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1120-1122)acA>acG		Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.							103.0	94.0	97.0					1																	176054931		2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176054931T>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1122A>G	1.37:g.176054931T>C			Somatic				RFWD2_uc001gkv.1_Silent_p.T350T|RFWD2_uc001gkw.1_Silent_p.T134T|RFWD2_uc009wwv.2_Silent_p.T173T|RFWD2_uc001gkt.1_Silent_p.T213T	p.T374T	NM_022457	NP_071902	WXS	Illumina GAIIx	Phase_I	Q8NHY2	RFWD2_HUMAN			9	1378	-			374					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1122A>G	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	8.957	0.969702	0.18659	.	.	ENSG00000143207	ENST00000459744	.	.	.	5.28	4.15	0.48705	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51934	-0.8642	4	.	.	.	-9.6619	6.8308	0.23909	0.0:0.0816:0.152:0.7663	.	.	.	.	R	94	.	.	Q	-	2	0	RFWD2	174321554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.198000	0.51035	0.956000	0.37904	0.383000	0.25322	CAA		0.348	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		3	86	0	0	0	1	0	3	86				
FILIP1	27145	broad.mit.edu	37	6	76022780	76022780	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr6:76022780G>A	ENST00000237172.7	-	5	3098	c.2768C>T	c.(2767-2769)gCg>gTg	p.A923V	FILIP1_ENST00000393004.2_Missense_Mutation_p.A923V|FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	923										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAAAGTCGCAGTGCTGTT	0.473																																						uc010kbe.3																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2776-2778)gCg>gTg		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.							145.0	139.0	141.0					6																	76022780		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022780G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2768C>T	6.37:g.76022780G>A	ENSP00000237172:p.Ala923Val		Somatic				FILIP1_uc003phy.1_Missense_Mutation_p.A923V|FILIP1_uc003phz.3_Missense_Mutation_p.A824V|FILIP1_uc003pia.3_Missense_Mutation_p.A923V|FILIP1_uc003pib.1_Missense_Mutation_p.A675V	p.A926V	NM_015687	NP_056502	WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	3307	-			923					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2777C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802427	0.90538	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.25414	1.81;1.8;1.81	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.974;0.995;0.998	T	0.31668	-0.9935	10	0.66056	D	0.02	-21.1339	20.2723	0.98479	0.0:0.0:1.0:0.0	.	923;923;923	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	923;923;824	ENSP00000376728:A923V;ENSP00000237172:A923V;ENSP00000359037:A824V	ENSP00000237172:A923V	A	-	2	0	FILIP1	76079500	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	7.874000	0.87199	2.793000	0.96121	0.563000	0.77884	GCG		0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		24	76	0	0	0	1	0	24	76				
SEC14L4	284904	broad.mit.edu	37	22	30890948	30890948	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:30890948G>A	ENST00000255858.7	-	6	507	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	SEC14L4_ENST00000381982.3_Splice_Site_p.L142L|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Splice_Site_p.L88L|SEC14L4_ENST00000540456.1_Splice_Site_p.L127L|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	142	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TTCCTGCCCAGCTGCTTGGGA	0.587																																						uc003aid.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.e6-1		Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	Vitamin E(DB00163)						107.0	86.0	93.0					22																	30890948		2203	4300	6503	SO:0001630	splice_region_variant	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890948G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.424-1C>T	22.37:g.30890948G>A			Somatic				SEC14L4_uc011akz.1_Splice_Site_p.L142_splice|SEC14L4_uc003aie.2_Splice_Site_p.L127_splice|SEC14L4_uc003aif.2_Splice_Site_p.L88_splice	p.L142_splice	NM_174977	NP_777637	WXS	Illumina GAIIx	Phase_I	Q9UDX3	S14L4_HUMAN			6	524	-			142			CRAL-TRIO.		A5D6W7|A6NCV4	Splice_Site	SNP	ENST00000255858.7	37	c.424_splice	CCDS13878.1																																																																																				0.587	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	Silent	11	34	0	0	0	1	0	11	34				
UBR5	51366	broad.mit.edu	37	8	103297922	103297922	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr8:103297922G>A	ENST00000520539.1	-	39	5909	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1768	Poly-Ala.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCTTCCAAAGCAGCTGCTGC	0.463																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.2																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5302-5304)gCt>gTt		Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.							72.0	68.0	70.0					8																	103297922		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297922G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5303C>T	8.37:g.103297922G>A	ENSP00000429084:p.Ala1768Val		Somatic				UBR5_uc003yks.2_Missense_Mutation_p.A1768V	p.A1768V	NM_015902	NP_056986	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5758	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1768			Poly-Ala.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5303C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174184	0.78452	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47869	0.83;0.83;0.83	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	N	0.22421	0.69	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.52726	-0.8537	10	0.33940	T	0.23	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	1762;1768	E7EMW7;O95071	.;UBR5_HUMAN	V	1768;1768;1762	ENSP00000429084:A1768V;ENSP00000220959:A1768V;ENSP00000427819:A1762V	ENSP00000220959:A1768V	A	-	2	0	UBR5	103367098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GCT		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	49	0	0	0	1	0	10	49				
SLAMF1	6504	broad.mit.edu	37	1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A	rs374126308		TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr1:160607074G>A	ENST00000302035.6	-	2	671	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	108	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468																																						uc001fwl.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(322-324)Cgg>Tgg		Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.		G	TRP/ARG	0,4406		0,0,2203	127.0	123.0	124.0		322	1.2	0.0	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	108/336	160607074	1,13005	2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607074G>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.322C>T	1.37:g.160607074G>A	ENSP00000306190:p.Arg108Trp		Somatic				SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R108W	p.R108W	NM_003037	NP_003028	WXS	Illumina GAIIx	Phase_I	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	668	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		108					Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.322C>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317495	0.23908	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.19	1.19	0.21007	Signaling lymphocytic activation molecule, N-terminal (2);	1.152020	0.06391	N	0.717075	T	0.23846	0.0577	N	0.22421	0.69	0.09310	N	1	D;D	0.71674	0.994;0.998	P;P	0.51615	0.675;0.615	T	0.11916	-1.0568	10	0.52906	T	0.07	-0.043	5.5763	0.17225	0.3728:0.0:0.6272:0.0	.	108;108	B4E2E4;Q13291	.;SLAF1_HUMAN	W	108	ENSP00000306190:R108W;ENSP00000235739:R108W;ENSP00000438406:R108W;ENSP00000347333:R108W	ENSP00000235739:R108W	R	-	1	2	SLAMF1	158873698	0.882000	0.30256	0.004000	0.12327	0.023000	0.10783	1.244000	0.32778	0.270000	0.21984	0.491000	0.48974	CGG		0.468	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			4	72	0	0	0	1	0	4	72				
PCNT	5116	broad.mit.edu	37	21	47783836	47783836	+	Silent	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr21:47783836C>T	ENST00000359568.5	+	14	2703	c.2596C>T	c.(2596-2598)Ctg>Ttg	p.L866L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	866					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGCTGATGCTGGCCCGGAG	0.677																																						uc002zji.4																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2596-2598)Ctg>Ttg		Homo sapiens pericentrin (PCNT), mRNA.							38.0	44.0	42.0					21																	47783836		2180	4265	6445	SO:0001819	synonymous_variant	5116				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	g.chr21:47783836C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2596C>T	21.37:g.47783836C>T			Somatic				PCNT_uc002zjj.3_Silent_p.L748L	p.L866L	NM_006031	NP_006022	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			13	2703	+	Breast(49;0.112)		866					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2596C>T	CCDS33592.1																																																																																				0.677	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	91	0	0	0	1	0	3	91				
LPIN3	64900	broad.mit.edu	37	20	39984584	39984584	+	Silent	SNP	T	T	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr20:39984584T>C	ENST00000373257.3	+	14	1804	c.1713T>C	c.(1711-1713)ccT>ccC	p.P571P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	571					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGACAGCCCTGTGATCCTGG	0.592																																						uc010ggh.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1714-1716)ccT>ccC		Homo sapiens lipin 3 (LPIN3), mRNA.							338.0	254.0	283.0					20																	39984584		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39984584T>C	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1713T>C	20.37:g.39984584T>C			Somatic				LPIN3_uc002xjx.3_Silent_p.P571P|LPIN3_uc010zwf.2_Non-coding_Transcript	p.P572P	NM_022896	NP_075047	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			13	1807	+		Myeloproliferative disorder(115;0.000739)	571					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.1716T>C	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	T	3.783	-0.045297	0.07452	.	.	ENSG00000132793	ENST00000445975	.	.	.	4.83	-3.91	0.04168	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.43421	D	0.995573	.	.	.	.	.	.	T	0.50030	-0.8875	4	.	.	.	-11.6615	8.351	0.32303	0.0:0.5085:0.2903:0.2012	.	.	.	.	P	61	.	.	L	+	2	0	LPIN3	39417998	0.000000	0.05858	0.986000	0.45419	0.382000	0.30200	-1.186000	0.03070	-0.588000	0.05882	-0.464000	0.05259	CTG		0.592	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		3	64	0	0	0	1	0	3	64				
VWF	7450	broad.mit.edu	37	12	6204449	6204449	+	Intron	SNP	G	G	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr12:6204449G>T	ENST00000261405.5	-	6	912				VWF_ENST00000572068.1_3'UTR|RN7SL69P_ENST00000468423.2_RNA	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCATTTTTAGAGCTTCAGGC	0.423																																						uc001qno.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.e7+1		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)																																			SO:0001627	intron_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	g.chr12:6204449G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.657+176C>A	12.37:g.6204449G>T			Somatic				VWF_uc001qnn.1_Intron|VWF_uc010set.1_Intron				WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			7	1326	-								Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	c.945_splice	CCDS8539.1																																																																																				0.423	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	21	0	0	0	1	0	3	21				
TCP11L2	255394	broad.mit.edu	37	12	106715426	106715426	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr12:106715426G>C	ENST00000299045.3	+	5	751	c.577G>C	c.(577-579)Gtg>Ctg	p.V193L	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000546625.1_Missense_Mutation_p.V193L|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	193										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GTGTGCTCCCGTGCGAGATAA	0.493																																						uc001tln.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(577-579)Gtg>Ctg		Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.							173.0	156.0	162.0					12																	106715426		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106715426G>C	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.577G>C	12.37:g.106715426G>C	ENSP00000299045:p.Val193Leu		Somatic				TCP11L2_uc001tll.3_Missense_Mutation_p.V193L|TCP11L2_uc001tlm.3_Missense_Mutation_p.V193L	p.V193L	NM_152772	NP_689985	WXS	Illumina GAIIx	Phase_I	Q8N4U5	T11L2_HUMAN			4	751	+			193					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.577G>C	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549194	0.65311	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	6.07	5.18	0.71444	.	0.297969	0.36234	N	0.002719	T	0.22513	0.0543	M	0.79805	2.47	0.23616	N	0.997285	P;P;B	0.46859	0.838;0.885;0.338	P;B;B	0.48063	0.565;0.429;0.058	T	0.16247	-1.0409	10	0.12430	T	0.62	-20.4283	10.2898	0.43588	0.2038:0.0:0.7962:0.0	.	193;193;193	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	L	193	ENSP00000448952:V193L;ENSP00000299045:V193L;ENSP00000449123:V193L;ENSP00000448629:V193L	ENSP00000299045:V193L	V	+	1	0	TCP11L2	105239556	0.229000	0.23729	0.869000	0.34112	0.978000	0.69477	1.286000	0.33273	1.570000	0.49709	0.655000	0.94253	GTG		0.493	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		3	82	0	0	0	1	0	3	82				
ARVCF	421	broad.mit.edu	37	22	19960732	19960732	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr22:19960732A>G	ENST00000263207.3	-	14	2639	c.2348T>C	c.(2347-2349)aTc>aCc	p.I783T	ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	783					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GATTTCGTGGATGGTGTTGAG	0.672																																						uc002zqz.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2347-2349)aTc>aCc		Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.							33.0	27.0	29.0					22																	19960732		2198	4294	6492	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960732A>G		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2348T>C	22.37:g.19960732A>G	ENSP00000263207:p.Ile783Thr		Somatic				ARVCF_uc002zqy.3_Missense_Mutation_p.I299T	p.I783T	NM_001670	NP_001661	WXS	Illumina GAIIx	Phase_I	O00192	ARVC_HUMAN			13	2618	-	Colorectal(54;0.0993)		783					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2348T>C	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.890383	0.72524	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	4.34	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.79475	2.455	0.80722	D	1	B;P	0.37914	0.145;0.611	B;B	0.41332	0.112;0.354	T	0.60682	-0.7215	9	.	.	.	-13.0459	12.9426	0.58354	1.0:0.0:0.0:0.0	.	783;299	O00192;E7EV58	ARVC_HUMAN;.	T	783;720;720;714;777	ENSP00000263207:I783T;ENSP00000342042:I720T;ENSP00000384341:I720T;ENSP00000384732:I714T;ENSP00000385444:I777T	.	I	-	2	0	ARVCF	18340732	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.582000	0.74049	1.956000	0.56807	0.459000	0.35465	ATC		0.672	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		6	11	0	0	0	1	0	6	11				
WDR45	11152	broad.mit.edu	37	X	48933589	48933589	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chrX:48933589C>A	ENST00000376372.3	-	7	633	c.452G>T	c.(451-453)tGc>tTc	p.C151F	WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000356463.3_Missense_Mutation_p.C152F|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|AF196779.12_ENST00000376358.3_Missense_Mutation_p.C49F	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	151					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAGGCTGGGGCAGAGGTCACA	0.597																																						uc004dml.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(454-456)tGc>tTc		Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.							56.0	44.0	48.0					X																	48933589		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933589C>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.452G>T	X.37:g.48933589C>A	ENSP00000365551:p.Cys151Phe		Somatic				WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Missense_Mutation_p.C49F|WDR45_uc004dmj.1_Missense_Mutation_p.C112F|WDR45_uc004dmk.1_Missense_Mutation_p.C151F|WDR45_uc004dmn.1_Missense_Mutation_p.C42F|WDR45_uc004dmp.1_Missense_Mutation_p.C152F	p.C152F	NM_007075	NP_009006	WXS	Illumina GAIIx	Phase_I	Q9Y484	WIPI4_HUMAN			6	627	-			151					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.455G>T	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993589	0.54041	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000376358	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	3.92	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.83118	2.625	0.80722	D	1	D;B;B;B;B;P	0.56287	0.975;0.003;0.005;0.007;0.001;0.939	B;B;B;B;B;P	0.50192	0.356;0.003;0.011;0.011;0.011;0.634	D	0.87352	0.2338	10	0.87932	D	0	-14.9901	14.6881	0.69065	0.0:1.0:0.0:0.0	.	49;151;162;116;152;151	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;.;WIPI4_HUMAN	F	49;151;162;152;116;151;152;151;84;117;176;169;127;49	ENSP00000451962:C49F;ENSP00000365551:C151F;ENSP00000365543:C162F;ENSP00000348848:C152F;ENSP00000419897:C116F;ENSP00000417211:C151F;ENSP00000365546:C152F;ENSP00000379913:C151F;ENSP00000418466:C84F;ENSP00000418919:C117F;ENSP00000420728:C176F;ENSP00000393640:C169F;ENSP00000419324:C127F;ENSP00000365536:C49F	ENSP00000365536:C49F	C	-	2	0	AF196779.12;WDR45	48820533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.533000	0.67160	1.896000	0.54893	0.532000	0.56150	TGC		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		11	12	0	0	0	1	0	11	12				
ATP6V0C	527	broad.mit.edu	37	16	2569368	2569368	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr16:2569368G>T	ENST00000330398.4	+	2	463	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|AMDHD2_ENST00000413459.3_5'Flank|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R372L|AMDHD2_ENST00000302956.4_5'Flank|AMDHD2_ENST00000293971.6_5'Flank|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	77					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				AGTCCTCATCGCCAACTCCCT	0.612																																						uc002cqm.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(1114-1116)cGc>cTc		Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 2, mRNA.							91.0	69.0	76.0					16																	2569368		2198	4300	6498	SO:0001583	missense	57465				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding	g.chr16:2569368G>T	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.229G>T	16.37:g.2569368G>T	ENSP00000329757:p.Ala77Ser		Somatic				ATP6V0C_uc021tav.1_Missense_Mutation_p.A77S|ATP6V0C_uc002cqn.3_Missense_Mutation_p.A77S|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank	p.R372L	NM_020705	NP_065756	WXS	Illumina GAIIx	Phase_I	Q9ULP9	TBC24_HUMAN			1	1230	+			0			TLD.		Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	c.1115G>T	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262072	0.39995	.	.	ENSG00000185883	ENST00000330398	T	0.40225	1.04	4.85	3.9	0.45041	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	N	0.12611	0.24	0.58432	D	0.999998	B	0.15719	0.014	B	0.22386	0.039	T	0.04522	-1.0945	10	0.13108	T	0.6	-3.3277	11.9352	0.52870	0.0854:0.0:0.9146:0.0	.	77	P27449	VATL_HUMAN	S	77	ENSP00000329757:A77S	ENSP00000329757:A77S	A	+	1	0	ATP6V0C	2509369	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.895000	0.87343	1.055000	0.40461	-0.265000	0.10407	GCC		0.612	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		3	64	0	0	0	1	0	3	64				
MYH1	4619	broad.mit.edu	37	17	10402290	10402290	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr17:10402290C>A	ENST00000226207.5	-	29	4079		c.e29+1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGGAGCTTACCTTTATCTCC	0.398																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.e29+1		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							185.0	162.0	170.0					17																	10402290		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:10402290C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3984+1G>T	17.37:g.10402290C>A			Somatic				AK097500_uc002gml.1_Intron	p.K1328_splice	NM_005963	NP_005954	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			29	4078	-			1328					Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37	c.3984_splice	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948968	0.73787	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4571	0.94897	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10343015	1.000000	0.71417	0.994000	0.49952	0.649000	0.38597	7.750000	0.85110	2.690000	0.91761	0.655000	0.94253	.		0.398	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Intron	5	56	0	0	0	1	0	5	56				
SPOCK3	50859	broad.mit.edu	37	4	167810357	167810357	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr4:167810357C>A	ENST00000357154.3	-	7	659	c.522G>T	c.(520-522)caG>caT	p.Q174H	SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	174	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGACTGAGATCTGTTTTCCTA	0.328																																						uc011cjq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(547-549)caG>caT		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							128.0	121.0	123.0					4																	167810357		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167810357C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.522G>T	4.37:g.167810357C>A	ENSP00000349677:p.Gln174His		Somatic				SPOCK3_uc021xuf.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjr.1_Missense_Mutation_p.Q54H|SPOCK3_uc003iri.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjs.1_Missense_Mutation_p.Q123H|SPOCK3_uc003irj.1_Missense_Mutation_p.Q171H|SPOCK3_uc011cjt.1_Missense_Mutation_p.Q82H|SPOCK3_uc011cjp.2_Missense_Mutation_p.Q171H|SPOCK3_uc011cju.1_Missense_Mutation_p.Q78H|SPOCK3_uc011cjv.1_Missense_Mutation_p.Q76H|SPOCK3_uc003irk.4_Missense_Mutation_p.Q171H|SPOCK3_uc011cjw.1_Non-coding_Transcript	p.Q183H	NM_001204353	NP_001191282	WXS	Illumina GAIIx	Phase_I	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	4	606	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	174			Kazal-like.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.549G>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096084	0.36952	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;0.91;3.58;3.58;3.58;0.91;3.58;3.58	5.17	3.35	0.38373	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.198219	0.44688	N	0.000421	T	0.50429	0.1615	L	0.45422	1.42	0.41111	D	0.985743	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.999;0.998;0.998;0.998;0.998	P;D;D;D;D;D;D;D	0.85130	0.897;0.969;0.968;0.997;0.996;0.969;0.994;0.996	T	0.44711	-0.9310	10	0.45353	T	0.12	-14.5186	6.7286	0.23371	0.1413:0.6877:0.0:0.171	.	76;78;123;183;171;174;171;174	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;.;TICN3_HUMAN	H	174;171;171;174;174;174;171;54;76;171;82;123;76;78;171	ENSP00000349677:Q174H;ENSP00000350153:Q171H;ENSP00000425570:Q171H;ENSP00000420920:Q174H;ENSP00000423421:Q174H;ENSP00000423606:Q174H;ENSP00000426716:Q171H;ENSP00000444789:Q54H;ENSP00000426318:Q76H;ENSP00000425502:Q171H;ENSP00000441396:Q82H;ENSP00000411344:Q123H;ENSP00000445430:Q76H;ENSP00000438142:Q78H;ENSP00000426177:Q171H	ENSP00000349677:Q174H	Q	-	3	2	SPOCK3	168046932	1.000000	0.71417	0.798000	0.32154	0.237000	0.25408	0.795000	0.26972	0.599000	0.29845	0.650000	0.86243	CAG		0.328	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			22	33	0	0	0	1	0	22	33				
IDE	3416	broad.mit.edu	37	10	94214212	94214212	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr10:94214212C>T	ENST00000265986.6	-	25	3105	c.3049G>A	c.(3049-3051)Gca>Aca	p.A1017T	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.A462T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1017					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	CAGAGTTTTGCAGCCATGAAG	0.433																																						uc001kia.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(3049-3051)Gca>Aca		Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151.0	151.0	151.0					10																	94214212		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94214212C>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.3049G>A	10.37:g.94214212C>T	ENSP00000265986:p.Ala1017Thr		Somatic				IDE_uc010qnp.2_Missense_Mutation_p.A462T|IDE_uc001khz.3_Missense_Mutation_p.A462T	p.A1017T	NM_004969	NP_004960	WXS	Illumina GAIIx	Phase_I	P14735	IDE_HUMAN			24	3125	-			1017					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.3049G>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955730	0.73902	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.34859	1.34;1.35	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.47716	1.5	0.58432	D	0.999999	B;D	0.54207	0.292;0.965	B;P	0.46299	0.038;0.511	T	0.04495	-1.0947	10	0.24483	T	0.36	-13.0314	20.2789	0.98501	0.0:1.0:0.0:0.0	.	1017;462	P14735;B3KSB8	IDE_HUMAN;.	T	1017;462	ENSP00000265986:A1017T;ENSP00000360637:A462T	ENSP00000265986:A1017T	A	-	1	0	IDE	94204192	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.475000	0.66787	2.788000	0.95919	0.650000	0.86243	GCA		0.433	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		4	129	0	0	0	1	0	4	129				
PTPRD	5789	broad.mit.edu	37	9	8499764	8499764	+	Silent	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr9:8499764G>A	ENST00000381196.4	-	22	2748	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	735	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P735P(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATTGGGCACGGGTGAGCGCC	0.483										TSP Lung(15;0.13)																												uc003zkk.3																			1	Substitution - coding silent(1)	p.P735P(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2203-2205)ccC>ccT		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							172.0	150.0	157.0					9																	8499764		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499764G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2205C>T	9.37:g.8499764G>A		TSP Lung(15;0.13)	Somatic				PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	p.P735P	NM_002839	NP_002830	WXS	Illumina GAIIx	Phase_I	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	24	2948	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	735			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2205C>T	CCDS43786.1																																																																																				0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	89	0	0	0	1	0	3	89				
RFWD2	64326	broad.mit.edu	37	1	176054931	176054931	+	Silent	SNP	T	T	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr1:176054931T>C	ENST00000367669.3	-	10	1636	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	RFWD2_ENST00000308769.8_Silent_p.T350T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	374					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGACATCCTTGTAGAAAAGT	0.348																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1																			0		p.T374I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1120-1122)acA>acG		Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.							103.0	94.0	97.0					1																	176054931		2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176054931T>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1122A>G	1.37:g.176054931T>C			Somatic				RFWD2_uc001gkv.1_Silent_p.T350T|RFWD2_uc001gkw.1_Silent_p.T134T|RFWD2_uc009wwv.2_Silent_p.T173T|RFWD2_uc001gkt.1_Silent_p.T213T	p.T374T	NM_022457	NP_071902	WXS	Illumina GAIIx	Phase_I	Q8NHY2	RFWD2_HUMAN			9	1378	-			374					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1122A>G	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	8.957	0.969702	0.18659	.	.	ENSG00000143207	ENST00000459744	.	.	.	5.28	4.15	0.48705	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51934	-0.8642	4	.	.	.	-9.6619	6.8308	0.23909	0.0:0.0816:0.152:0.7663	.	.	.	.	R	94	.	.	Q	-	2	0	RFWD2	174321554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.198000	0.51035	0.956000	0.37904	0.383000	0.25322	CAA		0.348	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		3	86	0	0	0	1	0	3	86				
FILIP1	27145	broad.mit.edu	37	6	76022780	76022780	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr6:76022780G>A	ENST00000237172.7	-	5	3098	c.2768C>T	c.(2767-2769)gCg>gTg	p.A923V	FILIP1_ENST00000393004.2_Missense_Mutation_p.A923V|FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	923										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAAAGTCGCAGTGCTGTT	0.473																																						uc010kbe.3																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2776-2778)gCg>gTg		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.							145.0	139.0	141.0					6																	76022780		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022780G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2768C>T	6.37:g.76022780G>A	ENSP00000237172:p.Ala923Val		Somatic				FILIP1_uc003phy.1_Missense_Mutation_p.A923V|FILIP1_uc003phz.3_Missense_Mutation_p.A824V|FILIP1_uc003pia.3_Missense_Mutation_p.A923V|FILIP1_uc003pib.1_Missense_Mutation_p.A675V	p.A926V	NM_015687	NP_056502	WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	3307	-			923					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2777C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802427	0.90538	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.25414	1.81;1.8;1.81	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.974;0.995;0.998	T	0.31668	-0.9935	10	0.66056	D	0.02	-21.1339	20.2723	0.98479	0.0:0.0:1.0:0.0	.	923;923;923	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	923;923;824	ENSP00000376728:A923V;ENSP00000237172:A923V;ENSP00000359037:A824V	ENSP00000237172:A923V	A	-	2	0	FILIP1	76079500	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	7.874000	0.87199	2.793000	0.96121	0.563000	0.77884	GCG		0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		24	76	0	0	0	1	0	24	76				
SEC14L4	284904	broad.mit.edu	37	22	30890948	30890948	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr22:30890948G>A	ENST00000255858.7	-	6	507	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	SEC14L4_ENST00000381982.3_Splice_Site_p.L142L|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Splice_Site_p.L88L|SEC14L4_ENST00000540456.1_Splice_Site_p.L127L|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	142	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TTCCTGCCCAGCTGCTTGGGA	0.587																																						uc003aid.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.e6-1		Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	Vitamin E(DB00163)						107.0	86.0	93.0					22																	30890948		2203	4300	6503	SO:0001630	splice_region_variant	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890948G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.424-1C>T	22.37:g.30890948G>A			Somatic				SEC14L4_uc011akz.1_Splice_Site_p.L142_splice|SEC14L4_uc003aie.2_Splice_Site_p.L127_splice|SEC14L4_uc003aif.2_Splice_Site_p.L88_splice	p.L142_splice	NM_174977	NP_777637	WXS	Illumina GAIIx	Phase_I	Q9UDX3	S14L4_HUMAN			6	524	-			142			CRAL-TRIO.		A5D6W7|A6NCV4	Splice_Site	SNP	ENST00000255858.7	37	c.424_splice	CCDS13878.1																																																																																				0.587	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	Silent	11	34	0	0	0	1	0	11	34				
UBR5	51366	broad.mit.edu	37	8	103297922	103297922	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr8:103297922G>A	ENST00000520539.1	-	39	5909	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1768	Poly-Ala.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCTTCCAAAGCAGCTGCTGC	0.463																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.2																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5302-5304)gCt>gTt		Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.							72.0	68.0	70.0					8																	103297922		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297922G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5303C>T	8.37:g.103297922G>A	ENSP00000429084:p.Ala1768Val		Somatic				UBR5_uc003yks.2_Missense_Mutation_p.A1768V	p.A1768V	NM_015902	NP_056986	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5758	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1768			Poly-Ala.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5303C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174184	0.78452	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47869	0.83;0.83;0.83	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	N	0.22421	0.69	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.52726	-0.8537	10	0.33940	T	0.23	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	1762;1768	E7EMW7;O95071	.;UBR5_HUMAN	V	1768;1768;1762	ENSP00000429084:A1768V;ENSP00000220959:A1768V;ENSP00000427819:A1762V	ENSP00000220959:A1768V	A	-	2	0	UBR5	103367098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GCT		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	49	0	0	0	1	0	10	49				
SLAMF1	6504	broad.mit.edu	37	1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A	rs374126308		TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr1:160607074G>A	ENST00000302035.6	-	2	671	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	108	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468																																						uc001fwl.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(322-324)Cgg>Tgg		Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.		G	TRP/ARG	0,4406		0,0,2203	127.0	123.0	124.0		322	1.2	0.0	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	108/336	160607074	1,13005	2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607074G>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.322C>T	1.37:g.160607074G>A	ENSP00000306190:p.Arg108Trp		Somatic				SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R108W	p.R108W	NM_003037	NP_003028	WXS	Illumina GAIIx	Phase_I	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	668	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		108					Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.322C>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317495	0.23908	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.19	1.19	0.21007	Signaling lymphocytic activation molecule, N-terminal (2);	1.152020	0.06391	N	0.717075	T	0.23846	0.0577	N	0.22421	0.69	0.09310	N	1	D;D	0.71674	0.994;0.998	P;P	0.51615	0.675;0.615	T	0.11916	-1.0568	10	0.52906	T	0.07	-0.043	5.5763	0.17225	0.3728:0.0:0.6272:0.0	.	108;108	B4E2E4;Q13291	.;SLAF1_HUMAN	W	108	ENSP00000306190:R108W;ENSP00000235739:R108W;ENSP00000438406:R108W;ENSP00000347333:R108W	ENSP00000235739:R108W	R	-	1	2	SLAMF1	158873698	0.882000	0.30256	0.004000	0.12327	0.023000	0.10783	1.244000	0.32778	0.270000	0.21984	0.491000	0.48974	CGG		0.468	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			4	72	0	0	0	1	0	4	72				
PCNT	5116	broad.mit.edu	37	21	47783836	47783836	+	Silent	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr21:47783836C>T	ENST00000359568.5	+	14	2703	c.2596C>T	c.(2596-2598)Ctg>Ttg	p.L866L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	866					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGCTGATGCTGGCCCGGAG	0.677																																						uc002zji.4																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2596-2598)Ctg>Ttg		Homo sapiens pericentrin (PCNT), mRNA.							38.0	44.0	42.0					21																	47783836		2180	4265	6445	SO:0001819	synonymous_variant	5116				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	g.chr21:47783836C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2596C>T	21.37:g.47783836C>T			Somatic				PCNT_uc002zjj.3_Silent_p.L748L	p.L866L	NM_006031	NP_006022	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			13	2703	+	Breast(49;0.112)		866					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2596C>T	CCDS33592.1																																																																																				0.677	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	91	0	0	0	1	0	3	91				
LPIN3	64900	broad.mit.edu	37	20	39984584	39984584	+	Silent	SNP	T	T	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	bb3a19af-edb8-47af-8b53-7024b0ca12e2	g.chr20:39984584T>C	ENST00000373257.3	+	14	1804	c.1713T>C	c.(1711-1713)ccT>ccC	p.P571P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	571					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGACAGCCCTGTGATCCTGG	0.592																																						uc010ggh.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1714-1716)ccT>ccC		Homo sapiens lipin 3 (LPIN3), mRNA.							338.0	254.0	283.0					20																	39984584		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39984584T>C	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1713T>C	20.37:g.39984584T>C			Somatic				LPIN3_uc002xjx.3_Silent_p.P571P|LPIN3_uc010zwf.2_Non-coding_Transcript	p.P572P	NM_022896	NP_075047	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			13	1807	+		Myeloproliferative disorder(115;0.000739)	571					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.1716T>C	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	T	3.783	-0.045297	0.07452	.	.	ENSG00000132793	ENST00000445975	.	.	.	4.83	-3.91	0.04168	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.43421	D	0.995573	.	.	.	.	.	.	T	0.50030	-0.8875	4	.	.	.	-11.6615	8.351	0.32303	0.0:0.5085:0.2903:0.2012	.	.	.	.	P	61	.	.	L	+	2	0	LPIN3	39417998	0.000000	0.05858	0.986000	0.45419	0.382000	0.30200	-1.186000	0.03070	-0.588000	0.05882	-0.464000	0.05259	CTG		0.592	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		3	64	0	0	0	1	0	3	64				
