#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_Description	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
AADACL4	343066	broad.mit.edu	37	1	12711307	12711307	+	Missense_Mutation	SNP	C	C	T	rs559695381		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr1:12711307C>T	ENST00000376221.1	+	2	334	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	112						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTCCAGACCCCGGCGAGGCAT	0.572																																						ENST00000376221.1											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(334-336)Cgg>Tgg	arylacetamide deacetylase-like 4						57.0	57.0	57.0					1																	12711307		2203	4300	6503	SO:0001583	missense	343066				integral to membrane	carboxylesterase activity	g.chr1:12711307C>T			CCDS30590.1	CCDS30590.1	1p36.21	2010-12-14			2010-12-14			ENSG00000204518	ENSG00000204518	ENSG00000204518	ENSG00000204518				32038	32038	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_006710608	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	uc001auf.3	Q5VUY2	Q5VUY2	OTTHUMG00000001889	OTTHUMG00000001889	ENST00000376221.1:c.334C>T	1.37:g.12711307C>T	ENSP00000365395:p.Arg112Trp			p.R112W	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	2	334	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	112			Missense_Mutation	SNP	ENST00000376221.1	37	c.334C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152062	0.38021	.	.	ENSG00000204518	ENST00000376221	T	0.60040	0.22	4.9	1.84	0.25277	4.9	1.84	0.25277	.	0.076451	0.49916	U	0.000138	T	0.49253	0.1546	M	0.75085	2.285	0.09310	N	1	D	0.53619	0.961	B	0.40038	0.317	T	0.49283	-0.8956	10	0.48119	T	0.1	-18.1748	4.5334	0.12017	0.2898:0.5378:0.0:0.1725	.	112	Q5VUY2	ADCL4_HUMAN	W	112	ENSP00000365395:R112W	ENSP00000365395:R112W	R	+	1	2	2	AADACL4	12633894	12633894	0.000000	0.05858	0.005000	0.12908	0.917000	0.54804	-2.711000	0.00817	0.468000	0.27243	0.462000	0.41574	CGG		0.572	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1		42.140314	5	5	83	83	NM_001013630		14	42.822819	42.822819	25	0.358974	0	0	0	1	0	14	25	0.358974
BBX	56987	ucsc.edu	37	3	107520041	107520041	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr3:107520041G>A	ENST00000325805.8	+	17	2938	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	BBX_ENST00000416476.2_Missense_Mutation_p.G548R|BBX_ENST00000415149.2_Missense_Mutation_p.R854Q|BBX_ENST00000402543.1_Missense_Mutation_p.R834Q|BBX_ENST00000406780.1_Missense_Mutation_p.R854Q			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	884					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GGGGAGACGCGGAGCAGTACT	0.527																																																	0																	92.0	88.0	89.0					3																	107520041		2203	4300	6503	SO:0001583	missense	56987							AF168718	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			2008-07-18			ENSG00000114439	ENSG00000114439	ENSG00000114439	ENSG00000114439				14422	14422	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""x 001 protein"""	"""x 001 protein"""								11680820	11680820	Standard	Standard	NM_001142568	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	uc010hpr.4	Q8WY36	Q8WY36	OTTHUMG00000150360	OTTHUMG00000150360	ENST00000325805.8:c.2651G>A	3.37:g.107520041G>A	ENSP00000319974:p.Arg884Gln																	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37		CCDS46881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.941703|2.941703	0.53079|0.53079	.|.	.|.	ENSG00000114439|ENSG00000114439	ENST00000416476|ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780;ENST00000458347	D|T;D;D;T	0.99245|0.97642	-5.62|1.55;-4.47;-4.46;1.55	6.02|6.02	5.14|5.14	0.70334|0.70334	6.02|6.02	5.14|5.14	0.70334|0.70334	.|.	.|0.354425	.|0.30028	.|N	.|0.010597	D|D	0.95965|0.95965	0.8686|0.8686	L|L	0.27053|0.27053	0.805|0.805	0.31493|0.31493	N|N	0.665777|0.665777	B|P;D	0.29508|0.76494	0.246|0.88;0.999	B|B;D	0.11329|0.71870	0.006|0.288;0.975	D|D	0.93134|0.93134	0.6535|0.6535	9|10	0.87932|0.62326	D|D	0|0.03	-6.7643|-6.7643	5.805|5.805	0.18434|0.18434	0.2493:0.0:0.7507:0.0|0.2493:0.0:0.7507:0.0	.|.	548|884;854	A2RRM7|Q8WY36;Q8WY36-2	.|BBX_HUMAN;.	R|Q	548|854;834;884;854;74	ENSP00000403860:G548R|ENSP00000408358:R854Q;ENSP00000385317:R834Q;ENSP00000319974:R884Q;ENSP00000385530:R854Q	ENSP00000403860:G548R|ENSP00000319974:R884Q	G|R	+|+	1|2	0|0	0|0	BBX|BBX	109002731|109002731	109002731|109002731	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.508000|0.508000	0.34012|0.34012	4.511000|4.511000	0.60462|0.60462	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GGA|CGG		0.527	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1			-26	-26	22	22	NM_020235		4			17							4	17	
DNM1	1759	broad.mit.edu	37	9	131008775	131008775	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:131008775G>A	ENST00000372923.3	+	16	1866	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	DNM1_ENST00000486160.1_Missense_Mutation_p.E592K|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000493925.1_3'UTR|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000393594.3_Missense_Mutation_p.E592K|DNM1_ENST00000475805.1_Missense_Mutation_p.E592K|DNM1_ENST00000341179.7_Missense_Mutation_p.E592K	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	592	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTTTAACACGGAGCAGAGGTG	0.557																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1774-1776)Gag>Aag	dynamin 1						136.0	95.0	109.0					9																	131008775		2203	4300	6503	SO:0001583	missense	1759			receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008775G>A	L07807	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			2013-01-10			ENSG00000106976	ENSG00000106976	ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	2972	2972	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602377	602377		DNM		DNM		2144893, 9143509	2144893, 9143509	Standard	Standard	XM_005251763	XM_005251763		Approved		uc022bob.1	uc022bob.1	Q05193	Q05193	OTTHUMG00000020733	OTTHUMG00000020733	ENST00000372923.3:c.1774G>A	9.37:g.131008775G>A	ENSP00000362014:p.Glu592Lys		DNM1_ENST00000372923.3_Missense_Mutation_p.E592K|DNM1_ENST00000486160.1_Missense_Mutation_p.E592K|DNM1_ENST00000393594.3_Missense_Mutation_p.E592K|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Missense_Mutation_p.E592K	p.E592K	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			16	1866	+			592	PH.	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1774G>A	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	36	5.626414	0.96671	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	4.71	4.71	0.59529	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.249757	0.39407	N	0.001373	D	0.97059	0.9039	M	0.80982	2.52	0.80722	D	1	P;P	0.47484	0.896;0.873	P;P	0.55615	0.78;0.673	D	0.97059	0.9769	10	0.48119	T	0.1	-2.6415	17.8368	0.88700	0.0:0.0:1.0:0.0	.	592;592	Q05193;Q05193-3	DYN1_HUMAN;.	K	592;592;592;587;592;592;137	ENSP00000419225:E592K;ENSP00000345680:E592K;ENSP00000362014:E592K;ENSP00000377219:E592K;ENSP00000420045:E592K	ENSP00000345680:E592K	E	+	1	0	0	DNM1	130048596	130048596	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.476000	0.97823	2.436000	0.82500	0.498000	0.49722	GAG		0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1		21.223471	-19	-19	20	20	NM_004408		7	21.238002	21.238002	8	0.466667	0	0	0	1	0	7	8	0.466667
ABCA13	154664	broad.mit.edu	37	7	48311887	48311887	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr7:48311887A>T	ENST00000435803.1	+	17	2648	c.2624A>T	c.(2623-2625)cAg>cTg	p.Q875L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	875					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACTTTTCCCAGTTGTTCCAT	0.313																																						ENST00000435803.1											0			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2623-2625)cAg>cTg	ATP-binding cassette, sub-family A (ABC1), member 13						107.0	106.0	107.0					7																	48311887		1811	4073	5884	SO:0001583	missense	154664			transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311887A>T	AY204751	AY204751	CCDS47584.1	CCDS47584.1	7p12.3	2012-03-14			2012-03-14			ENSG00000179869	ENSG00000179869	ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	"""ATP binding cassette transporters / subfamily A"""	14638	14638	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607807	607807						12697998	12697998	Standard	Standard	NM_152701	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	uc003toq.2	Q86UQ4	Q86UQ4	OTTHUMG00000155840	OTTHUMG00000155840	ENST00000435803.1:c.2624A>T	7.37:g.48311887A>T	ENSP00000411096:p.Gln875Leu			p.Q875L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2648	+			875		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2624A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	9.081	0.999410	0.19121	.	.	ENSG00000179869	ENST00000435803	D	0.85629	-2.01	5.33	1.53	0.23141	5.33	1.53	0.23141	.	0.536026	0.15692	N	0.249392	T	0.78000	0.4215	M	0.64997	1.995	0.09310	N	1	P	0.38922	0.651	B	0.32805	0.153	T	0.70324	-0.4903	10	0.87932	D	0	.	5.1346	0.14928	0.6893:0.1521:0.1586:0.0	.	875	Q86UQ4	ABCAD_HUMAN	L	875	ENSP00000411096:Q875L	ENSP00000411096:Q875L	Q	+	2	0	0	ABCA13	48282433	48282433	0.008000	0.16893	0.002000	0.10522	0.242000	0.25591	1.272000	0.33109	0.502000	0.28037	0.528000	0.53228	CAG		0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		97.807068	33	33	186	186	NM_152701		31	98.783777	98.783777	50	0.382716	0	0	0	1	0	31	50	0.382716
AGO2	27161	broad.mit.edu	37	8	141570580	141570580	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr8:141570580G>A	ENST00000220592.5	-	5	660	c.548C>T	c.(547-549)aCc>aTc	p.T183I	AGO2_ENST00000519980.1_Missense_Mutation_p.T183I	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	183					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TTCGGACGCGGTGAAGAAGGA	0.612																																						ENST00000220592.5											0										c.(547-549)aCc>aTc	argonaute RISC catalytic component 2						56.0	60.0	59.0					8																	141570580		2203	4300	6503	SO:0001583	missense	27161						g.chr8:141570580G>A	AF121255	AF121255	CCDS6380.1, CCDS55279.1	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	"""Argonaute/PIWI family"""	3263	3263	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""argonaute 2"""	"""argonaute 2"""	606229	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	10534406, 12906857	Standard	Standard	NM_012154	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	uc003yvn.3	Q9UKV8	Q9UKV8	OTTHUMG00000164232	OTTHUMG00000164232	ENST00000220592.5:c.548C>T	8.37:g.141570580G>A	ENSP00000220592:p.Thr183Ile		AGO2_ENST00000519980.1_Missense_Mutation_p.T183I	p.T183I	NM_012154.3	NP_036286.2					5	660	-					Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.548C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427286	0.62733	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.10288	2.89;2.89	5.02	5.02	0.67125	5.02	5.02	0.67125	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	L	0.28649	0.875	0.80722	D	1	B;B	0.29805	0.257;0.069	B;B	0.33121	0.142;0.158	T	0.09907	-1.0653	10	0.87932	D	0	-14.5758	18.7056	0.91637	0.0:0.0:1.0:0.0	.	183;183	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	I	183	ENSP00000220592:T183I;ENSP00000430176:T183I	ENSP00000220592:T183I	T	-	2	0	0	EIF2C2	141639762	141639762	1.000000	0.71417	0.930000	0.37139	0.479000	0.33129	7.867000	0.87062	2.495000	0.84180	0.655000	0.94253	ACC		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4		-3.717131	-13	-13	46	46			3	6.405961	6.405961	47	0.060000	0	0	0	1	0	3	47	0.06
ANKAR	150709	hgsc.bcm.edu	37	2	190569760	190569760	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:190569760C>G	ENST00000520309.1	+	8	1808	c.1720C>G	c.(1720-1722)Cta>Gta	p.L574V	ANKAR_ENST00000438402.2_Missense_Mutation_p.L574V|ANKAR_ENST00000281412.6_Missense_Mutation_p.L338V|ANKAR_ENST00000431575.2_Missense_Mutation_p.L503V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L574V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	574						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCCAACACCTCTACACCTTGC	0.428																																																	0																	146.0	119.0	128.0					2																	190569760		2203	4300	6503	SO:0001583	missense	150709							AJ549812	AJ549812	CCDS33351.1, CCDS33351.2	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			2013-02-14			ENSG00000151687	ENSG00000151687	ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	26350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609803	609803						15110750	15110750	Standard	Standard	NM_144708	NM_144708		Approved	FLJ25415	uc002uqw.2	uc002uqw.2	Q7Z5J8	Q7Z5J8	OTTHUMG00000154398	OTTHUMG00000154398	ENST00000520309.1:c.1720C>G	2.37:g.190569760C>G	ENSP00000427882:p.Leu574Val																	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37		CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035782	0.54896	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.63	3.84	0.44239	5.63	3.84	0.44239	.	0.167527	0.28549	N	0.014944	T	0.81912	0.4923	M	0.93106	3.38	0.09310	N	0.999995	.	.	.	.	.	.	T	0.74833	-0.3530	8	0.59425	D	0.04	-11.0285	7.8037	0.29189	0.0:0.6885:0.0:0.3115	.	.	.	.	V	574;574;574;503;338	ENSP00000427882:L574V;ENSP00000313513:L574V;ENSP00000397243:L574V;ENSP00000393043:L503V;ENSP00000281412:L338V	ENSP00000281412:L338V	L	+	1	2	2	ANKAR	190278005	190278005	0.350000	0.24878	0.945000	0.38365	0.925000	0.55904	0.109000	0.15417	0.742000	0.32697	0.561000	0.74099	CTA		0.428	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3			43	43	136	136	NM_144708		6			142							6	142	
USP34	9736	broad.mit.edu	37	2	61433951	61433951	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:61433951A>G	ENST00000398571.2	-	71	9066	c.8990T>C	c.(8989-8991)cTt>cCt	p.L2997P	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2997					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TATTGACAGAAGTTCTACTAA	0.358																																						ENST00000398571.2											0			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(8989-8991)cTt>cCt	ubiquitin specific peptidase 34						74.0	70.0	71.0					2																	61433951		1858	4102	5960	SO:0001583	missense	9736			positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61433951A>G	AB011142	AB011142	CCDS42686.1	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464	ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	"""Ubiquitin-specific peptidases"""	20066	20066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615295	615295	"""ubiquitin specific protease 34"""		"""ubiquitin specific protease 34"""			12838346	12838346	Standard	Standard	NM_014709	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	uc002sbe.3	Q70CQ2	Q70CQ2	OTTHUMG00000152265	OTTHUMG00000152265	ENST00000398571.2:c.8990T>C	2.37:g.61433951A>G	ENSP00000381577:p.Leu2997Pro			p.L2997P	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		71	9066	-			2997		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8990T>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813613	0.90790	.	.	ENSG00000115464	ENST00000263989;ENST00000398571	T	0.29142	1.58	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45816	0.1361	L	0.55481	1.735	0.80722	D	1	D	0.58970	0.984	P	0.55161	0.77	T	0.43343	-0.9397	10	0.87932	D	0	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	2997	Q70CQ2	UBP34_HUMAN	P	2845;2997	ENSP00000381577:L2997P	ENSP00000263989:L2845P	L	-	2	0	0	USP34	61287455	61287455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.225000	0.72522	0.460000	0.39030	CTT		0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		22.084617	-8	-8	46	46			8	23.902432	23.902432	24	0.250000	0	0	0	1	0	8	24	0.25
ANKAR	150709	hgsc.bcm.edu	37	2	190569770	190569770	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:190569770C>A	ENST00000520309.1	+	8	1818	c.1730C>A	c.(1729-1731)gCt>gAt	p.A577D	ANKAR_ENST00000438402.2_Missense_Mutation_p.A577D|ANKAR_ENST00000281412.6_Missense_Mutation_p.A341D|ANKAR_ENST00000431575.2_Missense_Mutation_p.A506D|ANKAR_ENST00000313581.4_Missense_Mutation_p.A577D	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	577						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACACCTTGCTGCACAGGCT	0.418																																																	0																	147.0	121.0	130.0					2																	190569770		2203	4300	6503	SO:0001583	missense	150709							AJ549812	AJ549812	CCDS33351.1, CCDS33351.2	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			2013-02-14			ENSG00000151687	ENSG00000151687	ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	26350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609803	609803						15110750	15110750	Standard	Standard	NM_144708	NM_144708		Approved	FLJ25415	uc002uqw.2	uc002uqw.2	Q7Z5J8	Q7Z5J8	OTTHUMG00000154398	OTTHUMG00000154398	ENST00000520309.1:c.1730C>A	2.37:g.190569770C>A	ENSP00000427882:p.Ala577Asp																	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37		CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153498	0.78114	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.63	4.76	0.60689	5.63	4.76	0.60689	.	0.243608	0.29185	N	0.012898	D	0.91297	0.7256	H	0.98664	4.295	0.47511	D	0.999441	.	.	.	.	.	.	D	0.93985	0.7261	8	0.87932	D	0	-8.3898	13.6348	0.62217	0.0:0.9242:0.0:0.0758	.	.	.	.	D	577;577;577;506;341	ENSP00000427882:A577D;ENSP00000313513:A577D;ENSP00000397243:A577D;ENSP00000393043:A506D;ENSP00000281412:A341D	ENSP00000281412:A341D	A	+	2	0	0	ANKAR	190278015	190278015	1.000000	0.71417	0.993000	0.49108	0.832000	0.47134	5.325000	0.65869	1.381000	0.46364	0.561000	0.74099	GCT		0.418	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3			28	28	137	137	NM_144708		8			148							8	148	
ANKAR	150709	broad.mit.edu	37	2	190569815	190569815	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:190569815C>G	ENST00000520309.1	+	8	1863	c.1775C>G	c.(1774-1776)tCc>tGc	p.S592C	ANKAR_ENST00000438402.2_Missense_Mutation_p.S592C|ANKAR_ENST00000281412.6_Missense_Mutation_p.S356C|ANKAR_ENST00000431575.2_Missense_Mutation_p.S521C|ANKAR_ENST00000313581.4_Missense_Mutation_p.S592C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	592						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACTGTGTTCCAAAGCTGAT	0.433																																						ENST00000520309.1											0			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1774-1776)tCc>tGc	ankyrin and armadillo repeat containing						166.0	142.0	150.0					2																	190569815		2203	4300	6503	SO:0001583	missense	150709				integral to membrane	binding	g.chr2:190569815C>G	AJ549812	AJ549812	CCDS33351.1, CCDS33351.2	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			2013-02-14			ENSG00000151687	ENSG00000151687	ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	26350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609803	609803						15110750	15110750	Standard	Standard	NM_144708	NM_144708		Approved	FLJ25415	uc002uqw.2	uc002uqw.2	Q7Z5J8	Q7Z5J8	OTTHUMG00000154398	OTTHUMG00000154398	ENST00000520309.1:c.1775C>G	2.37:g.190569815C>G	ENSP00000427882:p.Ser592Cys		ANKAR_ENST00000313581.4_Missense_Mutation_p.S592C|ANKAR_ENST00000281412.6_Missense_Mutation_p.S356C|ANKAR_ENST00000431575.2_Missense_Mutation_p.S521C|ANKAR_ENST00000438402.2_Missense_Mutation_p.S592C	p.S592C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		8	1863	+			592		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1775C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	5.850	0.341047	0.11069	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.63	-0.945	0.10388	5.63	-0.945	0.10388	.	0.484707	0.19558	N	0.111382	T	0.45915	0.1366	N	0.25380	0.74	0.09310	N	0.999997	.	.	.	.	.	.	T	0.38090	-0.9677	8	0.38643	T	0.18	-5.1425	6.9316	0.24444	0.3394:0.0693:0.0:0.5912	.	.	.	.	C	592;592;592;521;356	ENSP00000427882:S592C;ENSP00000313513:S592C;ENSP00000397243:S592C;ENSP00000393043:S521C;ENSP00000281412:S356C	ENSP00000281412:S356C	S	+	2	0	0	ANKAR	190278060	190278060	0.800000	0.28916	0.675000	0.29917	0.224000	0.24922	0.735000	0.26115	0.065000	0.16485	-1.683000	0.00735	TCC		0.433	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3		-13.091415	15	15	136	136	NM_144708		7	15.866295	15.866295	129	0.051471	0	0	0	1	0	7	129	0.051471
SPHKAP	80309	broad.mit.edu	37	2	228881555	228881555	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:228881555C>T	ENST00000392056.3	-	7	4061	c.4015G>A	c.(4015-4017)Ggc>Agc	p.G1339S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1339S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1339						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGGAGAGCCACCAGAAACA	0.512																																						ENST00000392056.3											0			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4015-4017)Ggc>Agc	SPHK1 interactor, AKAP domain containing						100.0	88.0	92.0					2																	228881555		2203	4300	6503	SO:0001583	missense	80309				cytoplasm	protein binding	g.chr2:228881555C>T			CCDS33389.1, CCDS46537.1	CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			2010-08-20			ENSG00000153820	ENSG00000153820	ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	"""A-kinase anchor proteins"""	30619	30619	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	"""sphingosine kinase type 1-interacting protein"""	611646	611646						12080051, 11214970	12080051, 11214970	Standard	Standard	NM_030623	NM_030623		Approved	SKIP	uc002vpq.2	uc002vpq.2	Q2M3C7	Q2M3C7	OTTHUMG00000153584	OTTHUMG00000153584	ENST00000392056.3:c.4015G>A	2.37:g.228881555C>T	ENSP00000375909:p.Gly1339Ser		SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1339S	p.G1339S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4061	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1339		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4015G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886879	0.51908	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	5.67	4.79	0.61399	5.67	4.79	0.61399	.	0.323944	0.36703	N	0.002456	T	0.15998	0.0385	M	0.69823	2.125	0.09310	N	0.999997	B;B;B	0.32653	0.094;0.379;0.372	B;B;B	0.27076	0.024;0.03;0.076	T	0.12604	-1.0541	10	0.22706	T	0.39	.	13.5017	0.61459	0.0:0.9254:0.0:0.0746	.	370;1339;1339	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	S	1339	ENSP00000375909:G1339S;ENSP00000339886:G1339S	ENSP00000339886:G1339S	G	-	1	0	0	SPHKAP	228589799	228589799	0.612000	0.27000	0.002000	0.10522	0.014000	0.08584	2.320000	0.43797	1.401000	0.46761	0.467000	0.42956	GGC		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		46.144963	-6	-6	57	57	NM_030623		20	54.717606	54.717606	81	0.198020	0	0	0	1	0	20	81	0.19802
COL14A1	7373	broad.mit.edu	37	8	121237427	121237427	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr8:121237427A>G	ENST00000297848.3	+	15	2108	c.1838A>G	c.(1837-1839)gAg>gGg	p.E613G	COL14A1_ENST00000247781.3_Missense_Mutation_p.E518G|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E613G|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGACAGTCAGAGCCTCTGACT	0.423																																						ENST00000297848.3											0			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1837-1839)gAg>gGg	collagen, type XIV, alpha 1						75.0	74.0	74.0					8																	121237427		2203	4300	6503	SO:0001583	missense	7373			cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121237427A>G			CCDS34938.1	CCDS34938.1	8q23	2013-02-11	2008-02-04		2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955	ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	"""Collagens"", ""Fibronectin type III domain containing"""	2191	2191	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120324	120324	"""undulin"""	UND	"""undulin"""	UND		1716629, 9427527	1716629, 9427527	Standard	Standard	NM_021110	NM_021110		Approved		uc003yox.4	uc003yox.4	Q05707	Q05707	OTTHUMG00000149877	OTTHUMG00000149877	ENST00000297848.3:c.1838A>G	8.37:g.121237427A>G	ENSP00000297848:p.Glu613Gly		COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E613G|COL14A1_ENST00000247781.3_Missense_Mutation_p.E518G|COL14A1_ENST00000432943.2_3'UTR	p.E613G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		15	2108	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		613	Fibronectin type-III 4.		Missense_Mutation	SNP	ENST00000297848.3	37	c.1838A>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.819041	0.50633	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.39	4.22	0.49857	5.39	4.22	0.49857	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.133204	0.52532	D	0.000079	T	0.61974	0.2390	M	0.76328	2.33	0.80722	D	1	D;P	0.54397	0.966;0.879	P;P	0.57371	0.819;0.708	T	0.60271	-0.7296	10	0.14252	T	0.57	.	9.7997	0.40757	0.8168:0.0:0.0:0.1832	.	613;613	Q05707-2;Q05707	.;COEA1_HUMAN	G	613;613;518;426	ENSP00000311809:E613G;ENSP00000297848:E613G;ENSP00000247781:E518G;ENSP00000409461:E426G	ENSP00000247781:E518G	E	+	2	0	0	COL14A1	121306608	121306608	1.000000	0.71417	0.506000	0.27664	0.796000	0.44982	5.607000	0.67648	0.847000	0.35167	0.459000	0.35465	GAG		0.423	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		84.160177	-15	-15	78	78	NM_021110		29	86.546998	86.546998	60	0.325843	0	0	0	1	0	29	60	0.325843
FOCAD	54914	broad.mit.edu	37	9	20929514	20929514	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:20929514C>A	ENST00000380249.1	+	29	3600	c.3236C>A	c.(3235-3237)gCt>gAt	p.A1079D	FOCAD_ENST00000338382.6_Missense_Mutation_p.A1079D|FOCAD_ENST00000605086.1_Missense_Mutation_p.A515D	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1079						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AAACCAAGTGCTGATGAGTCT	0.443																																						ENST00000380249.1											0										c.(3235-3237)gCt>gAt	focadhesin						121.0	92.0	102.0					9																	20929514		2203	4300	6503	SO:0001583	missense	54914				integral to membrane	binding	g.chr9:20929514C>A	AB058700	AB058700	CCDS34993.1	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352	ENSG00000188352	ENSG00000188352				23377	23377	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614606	614606	"""KIAA1797"""	KIAA1797	"""KIAA1797"""	KIAA1797		22427331	22427331	Standard	Standard	XM_006716794	XM_006716794		Approved	FLJ20375	uc003zog.1	uc003zog.1	Q5VW36	Q5VW36	OTTHUMG00000066930	OTTHUMG00000066930	ENST00000380249.1:c.3236C>A	9.37:g.20929514C>A	ENSP00000369599:p.Ala1079Asp		FOCAD_ENST00000605086.1_Missense_Mutation_p.A515D|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1079D	p.A1079D	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			29	3600	+			1079		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.3236C>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459661	0.96240	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.14640	2.49;2.49	6.16	6.16	0.99307	6.16	6.16	0.99307	Armadillo-type fold (1);	0.048945	0.85682	D	0.000000	T	0.38427	0.1040	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	P	0.62560	0.904	T	0.02126	-1.1209	10	0.87932	D	0	-26.1172	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1079	Q5VW36	K1797_HUMAN	D	1079	ENSP00000369599:A1079D;ENSP00000344307:A1079D	ENSP00000344307:A1079D	A	+	2	0	0	KIAA1797	20919514	20919514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.271000	0.78506	2.937000	0.99478	0.650000	0.86243	GCT		0.443	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1		-3.215769	37	37	112	112	NM_017794		3	6.360778	6.360778	45	0.062500	1	0	0.115264	1	0.115264	3	45	0.0625
RPTN	126638	broad.mit.edu	37	1	152128319	152128319	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr1:152128319T>C	ENST00000316073.3	-	3	1320	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	419	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTTGTCGGTCCATCTGACT	0.512																																						ENST00000316073.3											0			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1255-1257)gAc>gGc	repetin						791.0	684.0	716.0					1																	152128319		1568	3582	5150	SO:0001583	missense	126638				proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128319T>C	AK096436	AK096436	CCDS41397.1	CCDS41397.1	1q21.3	2013-01-10			2013-01-10			ENSG00000215853	ENSG00000215853	ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	"""EF-hand domain containing"""	26809	26809	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613259	613259						15854042	15854042	Standard	Standard	NM_001122965	NM_001122965		Approved	FLJ39117	uc001ezs.1	uc001ezs.1	Q6XPR3	Q6XPR3	OTTHUMG00000154095	OTTHUMG00000154095	ENST00000316073.3:c.1256A>G	1.37:g.152128319T>C	ENSP00000317895:p.Asp419Gly			p.D419G	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1320	-			419	Gln-rich.	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1256A>G	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	T	5.949	0.359144	0.11239	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.11063	2.81	4.12	-1.3	0.09259	4.12	-1.3	0.09259	.	.	.	.	.	T	0.01835	0.0058	L	0.52759	1.655	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	9	0.05721	T	0.95	.	4.3432	0.11120	0.0:0.2252:0.3305:0.4443	.	419	Q6XPR3	RPTN_HUMAN	G	419;74	ENSP00000317895:D419G	ENSP00000317895:D419G	D	-	2	0	0	RPTN	150394943	150394943	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.099000	0.15210	-0.129000	0.11620	0.323000	0.21402	GAC		0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1		-100.123849	0	0	776	776	XM_371312		4	6.359135	6.359135	382	0.010363	0	0	0	1	0	4	382	0.010363
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		62.420080	13	13	125	125	NM_002072		19	62.546628	62.546628	24	0.441860	0	0	0	1	0	19	24	0.44186
DNM1	1759	broad.mit.edu	37	9	131008684	131008684	+	Silent	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:131008684G>A	ENST00000372923.3	+	16	1775	c.1683G>A	c.(1681-1683)aaG>aaA	p.K561K	DNM1_ENST00000486160.1_Silent_p.K561K|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000493925.1_3'UTR|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000393594.3_Silent_p.K561K|DNM1_ENST00000475805.1_Silent_p.K561K|DNM1_ENST00000341179.7_Silent_p.K561K	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	561	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGAAAGAGAAGAAATACATGC	0.542																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1681-1683)aaG>aaA	dynamin 1						167.0	128.0	141.0					9																	131008684		2203	4300	6503	SO:0001819	synonymous_variant	1759			receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008684G>A	L07807	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			2013-01-10			ENSG00000106976	ENSG00000106976	ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	2972	2972	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602377	602377		DNM		DNM		2144893, 9143509	2144893, 9143509	Standard	Standard	XM_005251763	XM_005251763		Approved		uc022bob.1	uc022bob.1	Q05193	Q05193	OTTHUMG00000020733	OTTHUMG00000020733	ENST00000372923.3:c.1683G>A	9.37:g.131008684G>A			DNM1_ENST00000372923.3_Silent_p.K561K|DNM1_ENST00000486160.1_Silent_p.K561K|DNM1_ENST00000393594.3_Silent_p.K561K|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Silent_p.K561K	p.K561K	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			16	1775	+			561	PH.	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.1683G>A	CCDS6895.1																																																																																									0.542	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1		35.627155	-36	-36	34	34	NM_004408		11	35.730307	35.730307	8	0.578947	0	0	0	1	0	11	8	0.578947
FTHL17	53940	broad.mit.edu	37	X	31089834	31089834	+	Silent	SNP	G	G	T			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chrX:31089834G>T	ENST00000359202.3	-	1	336	c.237C>A	c.(235-237)ggC>ggA	p.G79G		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	79	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCAGATGTGGCCACCGCGCA	0.602																																						ENST00000359202.3											0			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(235-237)ggC>ggA	ferritin, heavy polypeptide-like 17						62.0	55.0	57.0					X																	31089834		2202	4300	6502	SO:0001819	synonymous_variant	53940			cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089834G>T	AF285592	AF285592	CCDS14227.1	CCDS14227.1	Xp21.2	2010-07-06			2010-07-06			ENSG00000132446	ENSG00000132446	ENSG00000132446	ENSG00000132446				3987	3987	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	"""cancer/testis antigen 38"""	300308	300308						11279525	11279525	Standard	Standard	NM_031894	NM_031894		Approved	CT38	uc004dcl.1	uc004dcl.1	Q9BXU8	Q9BXU8	OTTHUMG00000021332	OTTHUMG00000021332	ENST00000359202.3:c.237C>A	X.37:g.31089834G>T				p.G79G	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	336	-			79	Ferritin-like diiron.	Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.237C>A	CCDS14227.1																																																																																									0.602	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1		15.771475	-18	-18	55	55	NM_031894		8	20.606672	20.606672	39	0.170213	1	0	0.000157383	1	0.00017487	8	39	0.170213
PNLIP	5406	broad.mit.edu	37	10	118314738	118314738	+	Missense_Mutation	SNP	G	G	A	rs149884015		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr10:118314738G>A	ENST00000369221.2	+	7	648	c.620G>A	c.(619-621)cGa>cAa	p.R207Q		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	207					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.R207Q(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GAATTAGTCCGATTGGACCCC	0.483																																						ENST00000369221.2											1	Substitution - Missense(1)	skin(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(619-621)cGa>cAa	pancreatic lipase						91.0	83.0	85.0					10																	118314738		2203	4300	6503	SO:0001583	missense	5406			lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118314738G>A	BC014309	BC014309	CCDS7594.1	CCDS7594.1	10q25.3	2012-07-31			2012-07-31			ENSG00000175535	ENSG00000175535	ENSG00000175535	ENSG00000175535	3.1.1.3			9155	9155	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			246600	246600						1783385	1783385	Standard	Standard	NM_000936	NM_000936		Approved	PL	uc001lcm.3	uc001lcm.3	P16233	P16233	OTTHUMG00000019103	OTTHUMG00000019103	ENST00000369221.2:c.620G>A	10.37:g.118314738G>A	ENSP00000358223:p.Arg207Gln			p.R207Q	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	7	648	+			207		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.620G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834656	0.91036	.	.	ENSG00000175535	ENST00000369221	D	0.93133	-3.17	6.07	6.07	0.98685	6.07	6.07	0.98685	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000011	D	0.98024	0.9349	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98550	1.0636	10	0.87932	D	0	.	19.424	0.94734	0.0:0.0:1.0:0.0	.	207	P16233	LIPP_HUMAN	Q	207	ENSP00000358223:R207Q	ENSP00000358223:R207Q	R	+	2	0	0	PNLIP	118304728	118304728	1.000000	0.71417	0.998000	0.56505	0.521000	0.34408	8.029000	0.88807	2.890000	0.99128	0.585000	0.79938	CGA		0.483	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1		62.158166	-9	-9	75	75	NM_000936		21	63.237185	63.237185	38	0.355932	0	0	0	1	0	21	38	0.355932
CACNA1B	774	broad.mit.edu	37	9	141014734	141014736	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:141014734_141014736delCAC	ENST00000371372.1	+	45	6293_6295	c.6148_6150delCAC	c.(6148-6150)cacdel	p.H2054del	CACNA1B_ENST00000277549.5_In_Frame_Del_p.H1248del|CACNA1B_ENST00000371355.4_In_Frame_Del_p.H2055del|CACNA1B_ENST00000371363.1_In_Frame_Del_p.H2052del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.H2054del|CACNA1B_ENST00000371357.1_In_Frame_Del_p.H2053del	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2054	Poly-His.				calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.H2050delH(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCGTCGTCGCACCACCACCACC	0.7																																						ENST00000277549.5											1	Deletion - In frame(1)	central_nervous_system(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3730-3732)cacdel	calcium channel, voltage-dependent, N type, alpha 1B subunit			59,3775		11,37,1869							0.2			19	137,7599		26,85,3757	no	coding	CACNA1B	NM_000718.3		37,122,5626	A1A1,A1R,RR		1.7709,1.5389,1.694				196,11374				SO:0001651	inframe_deletion	774			membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141014734_141014736delCAC	AB209467	AB209467	CCDS59522.1, CCDS59523.1	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	1389	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601012	601012		CACNL1A5		CACNL1A5		8825650, 16382099	8825650, 16382099	Standard	Standard	NM_000718	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	uc004cog.3	Q00975	Q00975	OTTHUMG00000021002	OTTHUMG00000021002	ENST00000371372.1:c.6148_6150delCAC	9.37:g.141014743_141014745delCAC	ENSP00000360423:p.His2054del		CACNA1B_ENST00000371363.1_In_Frame_Del_p.H2052del|CACNA1B_ENST00000371355.4_In_Frame_Del_p.H2055del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.H2054del|CACNA1B_ENST00000371357.1_In_Frame_Del_p.H2053del|CACNA1B_ENST00000371372.1_In_Frame_Del_p.H2054del	p.H1248del			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	45	6299_6301	+	all_cancers(76;0.166)		2054		B1AQK5	In_Frame_Del	DEL	ENST00000371372.1	37	c.3730_3732delCAC	CCDS59522.1																																																																																									0.700	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	.	.	-7	-7	14	14	NM_000718		3			5	0.38						3	5	0.38
PCLO	27445	broad.mit.edu	37	7	82585204	82585204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr7:82585204delT	ENST00000333891.9	-	5	5402	c.5065delA	c.(5065-5067)acafs	p.T1689fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.T1689fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T1689fs*6(1)|p.T1620fs*6(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TACAAACTTGTTTTTTTCTGT	0.428																																						ENST00000333891.9											2	Insertion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5065-5067)acafs	piccolo presynaptic cytomatrix protein						88.0	81.0	84.0					7																	82585204		1856	4091	5947	SO:0001589	frameshift_variant	27445			cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585204delT	AB011131	AB011131	CCDS47630.1, CCDS47631.1	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	ENSG00000186472	ENSG00000186472				13406	13406	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""aczonin"""	"""aczonin"""	604918	604918	"""piccolo (presynaptic cytomatrix protein)"""		"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	8900486, 9628581	Standard	Standard	NM_014510	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	uc003uhx.2	Q9Y6V0	Q9Y6V0	OTTHUMG00000154853	OTTHUMG00000154853	ENST00000333891.9:c.5065delA	7.37:g.82585204delT	ENSP00000334319:p.Thr1689fs		PCLO_ENST00000423517.2_Frame_Shift_Del_p.T1689fs	p.T1689fs	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			5	5402	-						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.5065delA	CCDS47630.1																																																																																									0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	.	.	0	0	53	53	NM_014510		7			13	0.35						7	13	0.35
