#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
RGS11	8786	broad.mit.edu	37	16	321227	321227	+	Silent	SNP	G	G	A	rs370941756		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:321227G>A	ENST00000397770.3	-	12	854	c.837C>T	c.(835-837)gaC>gaT	p.D279D	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.D258D|RGS11_ENST00000359740.5_Silent_p.D268D			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	279	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.D279E(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCAGTAGGCGTCATTGTCTG	0.672																																						ENST00000397770.3											1	Substitution - Missense(1)	lung(1)	endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(835-837)gaC>gaT	regulator of G-protein signaling 11	G	,	0,4404		0,0,2202	30.0	36.0	34.0		774,837	-8.2	0.0	16		34	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous	RGS11	NM_003834.1,NM_183337.1	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	258/447,279/468	321227	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	8786			G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321227G>A	AF035153	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344	ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	"""Regulators of G-protein signaling"""	9993	9993	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603895	603895	"""regulator of G-protein signalling 11"""		"""regulator of G-protein signalling 11"""			9789084	9789084	Standard	Standard	NM_001286486	NM_001286486		Approved		uc002cgj.1	uc002cgj.1	O94810	O94810	OTTHUMG00000064893	OTTHUMG00000064893	ENST00000397770.3:c.837C>T	16.37:g.321227G>A			ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.D268D|RGS11_ENST00000316163.5_Silent_p.D258D	p.D279D			O94810	RGS11_HUMAN			12	854	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	279	G protein gamma.	O75883|Q4TT71|Q4TT72	Silent	SNP	ENST00000397770.3	37	c.837C>T	CCDS42088.1																																																																																									0.672	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2		24.112139	-5	-5	23	23			8	24.281734	24.281734	12	0.400000	0	0	0	1	0	8	12	0.4
PRRG4	79056	broad.mit.edu	37	11	32858271	32858271	+	Silent	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr11:32858271G>A	ENST00000257836.3	+	3	424	c.171G>A	c.(169-171)ctG>ctA	p.L57L		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	57	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					GATTTGATCTGGAGCTCTTCA	0.348																																						ENST00000257836.3											0			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7						c.(169-171)ctG>ctA	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)						59.0	61.0	61.0					11																	32858271		2202	4299	6501	SO:0001819	synonymous_variant	79056				extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	g.chr11:32858271G>A	AF326351	AF326351	CCDS7881.1	CCDS7881.1	11p13	2008-02-05			2008-02-05			ENSG00000135378	ENSG00000135378	ENSG00000135378	ENSG00000135378				30799	30799	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611690	611690						11171957	11171957	Standard	Standard	NM_024081	NM_024081		Approved	TMG4	uc001mtx.3	uc001mtx.3	Q9BZD6	Q9BZD6	OTTHUMG00000166219	OTTHUMG00000166219	ENST00000257836.3:c.171G>A	11.37:g.32858271G>A				p.L57L	NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN			3	424	+	Breast(20;0.206)		57	Gla.		Silent	SNP	ENST00000257836.3	37	c.171G>A	CCDS7881.1																																																																																									0.348	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1		43.008727	4	4	58	58	NM_024081		15	44.243236	44.243236	31	0.326087	0	0	0	1	0	15	31	0.326087
TNS4	84951	broad.mit.edu	37	17	38645057	38645057	+	Missense_Mutation	SNP	T	T	C	rs372464786		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr17:38645057T>C	ENST00000254051.6	-	3	762	c.604A>G	c.(604-606)Atc>Gtc	p.I202V		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	202	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCAGAGAAGATGAGGCTCTCA	0.652																																						ENST00000254051.6											0			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(604-606)Atc>Gtc	tensin 4	T	VAL/ILE	0,4390		0,0,2195	37.0	46.0	43.0		604	5.8	1.0	17		43	1,8577		0,1,4288	no	missense	TNS4	NM_032865.5	29	0,1,6483	CC,CT,TT		0.0117,0.0,0.0077	probably-damaging	202/716	38645057	1,12967	2195	4289	6484	SO:0001583	missense	84951			apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645057T>C	AF417488	AF417488	CCDS11368.1	CCDS11368.1	17q21.2	2013-02-14			2013-02-14			ENSG00000131746	ENSG00000131746	ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	"""SH2 domain containing"""	24352	24352	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""C terminal tensin like"""	"""C terminal tensin like"""	608385	608385						12154022, 12711115	12154022, 12711115	Standard	Standard	NM_032865	NM_032865		Approved	CTEN	uc010cxb.3	uc010cxb.3	Q8IZW8	Q8IZW8	OTTHUMG00000133330	OTTHUMG00000133330	ENST00000254051.6:c.604A>G	17.37:g.38645057T>C	ENSP00000254051:p.Ile202Val			p.I202V	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	762	-		Breast(137;0.000496)	202	Ser-rich.	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.604A>G	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501552	0.64298	0.0	1.17E-4	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19669	2.13	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.448288	0.16590	N	0.207787	T	0.20780	0.0500	L	0.34521	1.04	0.24227	N	0.995418	D	0.55605	0.972	P	0.49085	0.6	T	0.11542	-1.0583	10	0.20519	T	0.43	-30.3227	9.592	0.39552	0.0:0.0793:0.0:0.9207	.	202	Q8IZW8	TENS4_HUMAN	V	202	ENSP00000254051:I202V	ENSP00000254051:I202V	I	-	1	0	0	TNS4	35898583	35898583	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.385000	0.44371	2.203000	0.70933	0.460000	0.39030	ATC		0.652	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3		66.800435	-15	-15	80	80	NM_032865		23	69.020443	69.020443	50	0.315068	0	0	0	1	0	23	50	0.315068
ANXA2	302	broad.mit.edu	37	15	60648185	60648185	+	Missense_Mutation	SNP	T	T	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:60648185T>A	ENST00000396024.3	-	8	620	c.461A>T	c.(460-462)gAt>gTt	p.D154V	ANXA2_ENST00000421017.2_Missense_Mutation_p.D154V|ANXA2_ENST00000451270.2_Missense_Mutation_p.D154V|ANXA2_ENST00000332680.4_Missense_Mutation_p.D172V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	154					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	CTTCTCCAGATCAGTCTTGTA	0.473																																						ENST00000396024.3											0			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(460-462)gAt>gTt	annexin A2						151.0	131.0	137.0					15																	60648185		2203	4300	6503	SO:0001583	missense	302			angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60648185T>A	D00017	D00017	CCDS10175.1, CCDS32256.1	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			2012-10-02			ENSG00000182718	ENSG00000182718	ENSG00000182718	ENSG00000182718		"""Annexins"""	"""Annexins"""	537	537	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""annexin II"""	"""annexin II"""	151740	151740		ANX2, ANX2L4, CAL1H, LPC2D		ANX2, ANX2L4, CAL1H, LPC2D		7961821	7961821	Standard	Standard	NM_001136015	NM_001136015		Approved	LIP2	uc002agm.3	uc002agm.3	P07355	P07355	OTTHUMG00000132763	OTTHUMG00000132763	ENST00000396024.3:c.461A>T	15.37:g.60648185T>A	ENSP00000379342:p.Asp154Val		ANXA2_ENST00000451270.2_Missense_Mutation_p.D154V|ANXA2_ENST00000332680.4_Missense_Mutation_p.D172V|ANXA2_ENST00000421017.2_Missense_Mutation_p.D154V	p.D154V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN			8	620	-			154		Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	c.461A>T	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898927	0.72754	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270;ENST00000504475	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.78	5.78	0.91487	5.78	5.78	0.91487	Annexin repeat, conserved site (1);	0.059193	0.64402	U	0.000004	T	0.25494	0.0620	H	0.96015	3.755	0.80722	D	1	B;P	0.36683	0.442;0.565	B;P	0.47346	0.188;0.544	T	0.07770	-1.0755	10	0.72032	D	0.01	.	15.0972	0.72244	0.0:0.0:0.0:1.0	.	172;154	P07355-2;P07355	.;ANXA2_HUMAN	V	154;172;154;154;37	ENSP00000379342:D154V;ENSP00000346032:D172V;ENSP00000411352:D154V;ENSP00000387545:D154V	ENSP00000346032:D172V	D	-	2	0	0	ANXA2	58435477	58435477	1.000000	0.71417	0.728000	0.30774	0.633000	0.38033	6.898000	0.75676	2.200000	0.70718	0.460000	0.39030	GAT		0.473	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1		50.798713	-2	-2	49	49	NM_001002857		16	50.805303	50.805303	17	0.484848	0	0	0	1	0	16	17	0.484848
VWA8	23078	broad.mit.edu	37	13	42461419	42461419	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr13:42461419G>A	ENST00000379310.3	-	6	798	c.730C>T	c.(730-732)Cca>Tca	p.P244S	VWA8_ENST00000281496.6_Missense_Mutation_p.P244S	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	244						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTTGGCACTGGCAAGCCCAAG	0.413																																						ENST00000379310.3											0										c.(730-732)Cca>Tca	von Willebrand factor A domain containing 8						69.0	73.0	72.0					13																	42461419		2203	4300	6503	SO:0001583	missense	23078						g.chr13:42461419G>A	AB011136	AB011136	CCDS31963.1, CCDS41881.1	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763	ENSG00000102763	ENSG00000102763				29071	29071	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""KIAA0564"""	KIAA0564	"""KIAA0564"""	KIAA0564		9628581	9628581	Standard	Standard	NM_015058	NM_015058		Approved		uc001uyj.3	uc001uyj.3	A3KMH1	A3KMH1	OTTHUMG00000016799	OTTHUMG00000016799	ENST00000379310.3:c.730C>T	13.37:g.42461419G>A	ENSP00000368612:p.Pro244Ser		VWA8_ENST00000281496.6_Missense_Mutation_p.P244S	p.P244S	NM_015058.1	NP_055873.1					6	798	-					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.730C>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857441	0.91433	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.55760	0.5;0.5	5.11	5.11	0.69529	5.11	5.11	0.69529	ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000001	T	0.81178	0.4768	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86716	0.1939	10	0.87932	D	0	.	18.9359	0.92584	0.0:0.0:1.0:0.0	.	244	A3KMH1	K0564_HUMAN	S	148;244;244;244	ENSP00000368612:P244S;ENSP00000281496:P244S	ENSP00000251030:P148S	P	-	1	0	0	KIAA0564	41359419	41359419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.740000	0.98839	2.538000	0.85594	0.650000	0.86243	CCA		0.413	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		-5.119755	-6	-6	63	63	NM_015058		3	6.378299	6.378299	52	0.054545	0	0	0	1	0	3	52	0.054545
UNC5B	219699	broad.mit.edu	37	10	73050857	73050857	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr10:73050857G>A	ENST00000335350.6	+	9	1701	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	429					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.A429T(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTTTAAGACGGCAAGGCCCAG	0.597																																						ENST00000335350.6											2	Substitution - Missense(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1285-1287)Gca>Aca	unc-5 homolog B (C. elegans)						165.0	158.0	160.0					10																	73050857		2203	4300	6503	SO:0001583	missense	219699			apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050857G>A	AB096256	AB096256	CCDS7309.1, CCDS58083.1	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731	ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"""	12568	12568	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607870	607870	"""unc5 (C.elegans homolog) b"""		"""unc5 (C.elegans homolog) b"""					Standard	Standard	NM_170744	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	uc001jro.3	Q8IZJ1	Q8IZJ1	OTTHUMG00000018422	OTTHUMG00000018422	ENST00000335350.6:c.1285G>A	10.37:g.73050857G>A	ENSP00000334329:p.Ala429Thr		UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	p.A429T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			9	1701	+			429		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1285G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014355	0.07959	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.51574	0.78;0.7	5.39	2.49	0.30216	5.39	2.49	0.30216	.	0.365957	0.31495	N	0.007559	T	0.37758	0.1015	L	0.53249	1.67	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.25152	-1.0140	10	0.31617	T	0.26	-3.4221	6.4845	0.22081	0.1408:0.0:0.4509:0.4083	.	418;429	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	429;418	ENSP00000334329:A429T;ENSP00000362288:A418T	ENSP00000334329:A429T	A	+	1	0	0	UNC5B	72720863	72720863	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.081000	0.30791	0.253000	0.21552	-0.136000	0.14681	GCA		0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1		-37.461449	-9	-9	228	228	NM_170744		4	6.938716	6.938716	171	0.022857	0	0	0	1	0	4	171	0.022857
MAN2A1	4124	broad.mit.edu	37	5	109106204	109106204	+	Silent	SNP	C	C	G			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr5:109106204C>G	ENST00000261483.4	+	7	2210	c.1158C>G	c.(1156-1158)gtC>gtG	p.V386V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	386					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CCTGGGGAGTCCCCCCAGAAA	0.433																																						ENST00000261483.4											0			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1156-1158)gtC>gtG	mannosidase, alpha, class 2A, member 1						86.0	84.0	85.0					5																	109106204		2202	4300	6502	SO:0001819	synonymous_variant	4124			mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109106204C>G			CCDS34209.1	CCDS34209.1	5q21.3	2013-09-20			2013-09-20			ENSG00000112893	ENSG00000112893	ENSG00000112893	ENSG00000112893	3.2.1.114			6824	6824	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	"""golgi integral membrane protein 7"""	154582	154582		MANA2		MANA2		1757461, 15004235	1757461, 15004235	Standard	Standard	NM_002372	NM_002372		Approved	GOLIM7	uc003kou.1	uc003kou.1	Q16706	Q16706	OTTHUMG00000162834	OTTHUMG00000162834	ENST00000261483.4:c.1158C>G	5.37:g.109106204C>G				p.V386V	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	7	2210	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	386		Q16767	Silent	SNP	ENST00000261483.4	37	c.1158C>G	CCDS34209.1																																																																																									0.433	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		-9.630693	13	13	75	75			3	6.337902	6.337902	68	0.042254	0	0	0	1	0	3	68	0.042254
PRR14	78994	broad.mit.edu	37	16	30666177	30666177	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:30666177G>A	ENST00000542965.2	+	7	1342	c.886G>A	c.(886-888)Gct>Act	p.A296T	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.A296T			Q9BWN1	PRR14_HUMAN	proline rich 14	296	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCAGTCTGGGGCTGCTGAGGG	0.637																																						ENST00000542965.2											0			breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(886-888)Gct>Act	proline rich 14						40.0	43.0	42.0					16																	30666177		2197	4299	6496	SO:0001583	missense	78994						g.chr16:30666177G>A	AK074783	AK074783	CCDS10687.1	CCDS10687.1	16p11.2	2008-02-05			2008-02-05			ENSG00000156858	ENSG00000156858	ENSG00000156858	ENSG00000156858				28458	28458	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_024031	NM_024031		Approved	MGC3121	uc002dyy.3	uc002dyy.3	Q9BWN1	Q9BWN1	OTTHUMG00000132414	OTTHUMG00000132414	ENST00000542965.2:c.886G>A	16.37:g.30666177G>A	ENSP00000441641:p.Ala296Thr		PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.A296T	p.A296T			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1342	+			296	Pro-rich.	Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.886G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675314	0.47781	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.46063	0.88;0.88	5.45	4.48	0.54585	5.45	4.48	0.54585	.	2.915910	0.01328	N	0.011165	T	0.52500	0.1738	L	0.57536	1.79	0.18873	N	0.999986	P	0.44816	0.844	P	0.46076	0.503	T	0.49000	-0.8984	10	0.52906	T	0.07	-5.3799	12.3215	0.54987	0.0852:0.0:0.9148:0.0	.	296	Q9BWN1	PRR14_HUMAN	T	269;296;296	ENSP00000300835:A296T;ENSP00000441641:A296T	ENSP00000287463:A269T	A	+	1	0	0	PRR14	30573678	30573678	0.784000	0.28713	0.358000	0.25811	0.997000	0.91878	1.092000	0.30927	2.716000	0.92895	0.643000	0.83706	GCT		0.637	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1		44.923342	-10	-10	35	35	NM_024031		15	45.140218	45.140218	21	0.416667	0	0	0	1	0	15	21	0.416667
NBPF3	84224	broad.mit.edu	37	1	21798124	21798124	+	Missense_Mutation	SNP	A	A	G	rs568222571		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr1:21798124A>G	ENST00000318249.5	+	5	859	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	NBPF3_ENST00000454000.2_Missense_Mutation_p.Q100R|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000318220.6_Missense_Mutation_p.Q114R	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	170						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGAAGTTACAGGAAGGGAGA	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		20334	0.0		0.0	False		,,,				2504	0.001					ENST00000318220.6											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(340-342)cAg>cGg	neuroblastoma breakpoint family, member 3						119.0	130.0	126.0					1																	21798124		2203	4298	6501	SO:0001583	missense	84224				cytoplasm		g.chr1:21798124A>G	BC024011	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			2013-01-17			ENSG00000142794	ENSG00000142794	ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	"""neuroblastoma breakpoint family"""	25076	25076	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612992	612992						11230166, 16079250	11230166, 16079250	Standard	Standard	NM_032264	NM_032264		Approved	AE2	uc001ber.4	uc001ber.4	Q9H094	Q9H094	OTTHUMG00000002944	OTTHUMG00000002944	ENST00000318249.5:c.509A>G	1.37:g.21798124A>G	ENSP00000316782:p.Gln170Arg		NBPF3_ENST00000318249.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000454000.2_Missense_Mutation_p.Q100R	p.Q114R			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	8	1389	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	170		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.341A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.352898	0.00217	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.43688	0.94;4.79;4.76;4.71;4.79	1.23	-1.78	0.07957	1.23	-1.78	0.07957	.	.	.	.	.	T	0.10723	0.0262	N	0.00960	-1.095	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.24261	-1.0165	9	0.02654	T	1	.	5.6506	0.17614	0.6152:0.0:0.3848:0.0	.	100;170;170	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	R	100;114;170;114;170;114	ENSP00000415711:Q100R;ENSP00000316739:Q114R;ENSP00000316782:Q170R;ENSP00000340336:Q170R;ENSP00000391865:Q114R	ENSP00000316739:Q114R	Q	+	2	0	0	NBPF3	21670711	21670711	0.082000	0.21442	0.000000	0.03702	0.005000	0.04900	-1.244000	0.02902	-1.121000	0.02949	-1.559000	0.00887	CAG		0.517	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			-30.905533	-95	-95	176	176	NM_032264		6	10.712685	10.712685	170	0.034091	0	0	0	1	0	6	170	0.034091
MYH4	4622	broad.mit.edu	37	17	10355524	10355524	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr17:10355524C>T	ENST00000255381.2	-	27	3582	c.3472G>A	c.(3472-3474)Ggt>Agt	p.G1158S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1158					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGGCCCCACCGGCTTCTTCC	0.612																																						ENST00000255381.2											0			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3472-3474)Ggt>Agt	myosin, heavy chain 4, skeletal muscle						82.0	91.0	88.0					17																	10355524		2203	4300	6503	SO:0001583	missense	4622			muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355524C>T			CCDS11154.1	CCDS11154.1	17p13.1	2013-09-19	2006-09-29		2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	"""Myosins / Myosin superfamily : Class II"""	7574	7574	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			160742	160742	"""myosin, heavy polypeptide 4, skeletal muscle"""		"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	8518795	Standard	Standard	NM_017533	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	uc002gmn.3	Q9Y623	Q9Y623	OTTHUMG00000130365	OTTHUMG00000130365	ENST00000255381.2:c.3472G>A	17.37:g.10355524C>T	ENSP00000255381:p.Gly1158Ser		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.G1158S	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			27	3582	-			1158			Missense_Mutation	SNP	ENST00000255381.2	37	c.3472G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771001	0.69992	.	.	ENSG00000141048	ENST00000255381	D	0.82167	-1.58	5.4	4.43	0.53597	5.4	4.43	0.53597	Myosin tail (1);	0.000000	0.37955	U	0.001862	D	0.87281	0.6138	M	0.74647	2.275	0.58432	D	0.999997	P	0.50443	0.935	P	0.52481	0.7	D	0.88485	0.3071	10	0.59425	D	0.04	.	14.4601	0.67442	0.0:0.9286:0.0:0.0714	.	1158	Q9Y623	MYH4_HUMAN	S	1158	ENSP00000255381:G1158S	ENSP00000255381:G1158S	G	-	1	0	0	MYH4	10296249	10296249	1.000000	0.71417	0.278000	0.24718	0.760000	0.43138	6.017000	0.70805	1.417000	0.47077	0.655000	0.94253	GGT		0.612	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		152.486460	-16	-16	138	138	NM_017533		51	155.184547	155.184547	93	0.354167	0	0	0	1	0	51	93	0.354167
AHCTF1	25909	broad.mit.edu	37	1	247006072	247006072	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr1:247006072C>T	ENST00000391829.2	-	35	6655	c.6532G>A	c.(6532-6534)Gat>Aat	p.D2178N	AHCTF1_ENST00000366508.1_Missense_Mutation_p.D2213N|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D2187N|AHCTF1_ENST00000470300.1_Intron			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2178	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATTGTGCATCATCTTTCTAT	0.358																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1											0			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(6637-6639)Gat>Aat	AT hook containing transcription factor 1						210.0	193.0	198.0					1																	247006072		2203	4300	6503	SO:0001583	missense	25909			cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247006072C>T			CCDS1629.1, CCDS1629.2	CCDS1629.1, CCDS1629.2	1q44	2008-09-09			2008-09-09			ENSG00000153207	ENSG00000153207	ENSG00000153207	ENSG00000153207				24618	24618	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	"""ELYS transcription factor like protein TMBS62"""	610853	610853						11952839	11952839	Standard	Standard	NM_015446	NM_015446		Approved	ELYS	uc001ibv.2	uc001ibv.2	Q8WYP5	Q8WYP5	OTTHUMG00000040706	OTTHUMG00000040706	ENST00000391829.2:c.6532G>A	1.37:g.247006072C>T	ENSP00000375705:p.Asp2178Asn		AHCTF1_ENST00000391829.2_Missense_Mutation_p.D2178N|AHCTF1_ENST00000470300.1_Intron|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D2187N	p.D2213N			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		35	6773	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2178	Necessary for nuclear localization (By similarity).	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6637G>A		.	.	.	.	.	.	.	.	.	.	C	11.66	1.705405	0.30232	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.38560	1.13;1.14;1.14	5.06	3.16	0.36331	5.06	3.16	0.36331	.	0.275715	0.31233	N	0.008009	T	0.34424	0.0897	L	0.52364	1.645	0.35087	D	0.763997	B;B	0.20887	0.047;0.049	B;B	0.18263	0.021;0.018	T	0.35500	-0.9786	10	0.31617	T	0.26	-11.8773	9.7454	0.40444	0.0:0.8362:0.0:0.1638	.	2213;2178	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	N	2213;2187;2178	ENSP00000355464:D2213N;ENSP00000355465:D2187N;ENSP00000375705:D2178N	ENSP00000355465:D2187N	D	-	1	0	0	AHCTF1	245072695	245072695	0.697000	0.27767	0.975000	0.42487	0.300000	0.27592	0.040000	0.13905	0.624000	0.30286	0.591000	0.81541	GAT		0.358	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			63.839374	-42	-42	115	115	NM_015446		22	65.334675	65.334675	43	0.338462	0	0	0	1	0	22	43	0.338462
CHST4	10164	broad.mit.edu	37	16	71571118	71571118	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:71571118C>T	ENST00000338482.5	+	3	881	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	CHST4_ENST00000572450.1_Missense_Mutation_p.R180C|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.R180C			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	180					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.R180C(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAAGGAGGTGCGCTTCTTCAA	0.637																																						ENST00000338482.5											1	Substitution - Missense(1)	large_intestine(1)	cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(538-540)Cgc>Tgc	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4						87.0	87.0	87.0					16																	71571118		2198	4300	6498	SO:0001583	missense	10164			cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571118C>T	AF131235	AF131235	CCDS10902.1	CCDS10902.1	16q22.2	2008-02-05			2008-02-05			ENSG00000140835	ENSG00000140835	ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	"""Sulfotransferases, membrane-bound"""	1972	1972	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10330415	10330415	Standard	Standard	NM_001166395	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	uc002fao.3	Q8NCG5	Q8NCG5	OTTHUMG00000137592	OTTHUMG00000137592	ENST00000338482.5:c.538C>T	16.37:g.71571118C>T	ENSP00000341206:p.Arg180Cys		ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R180C|CHST4_ENST00000539698.3_Missense_Mutation_p.R180C	p.R180C			Q8NCG5	CHST4_HUMAN			3	881	+			180		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.538C>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410209	0.83340	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.84730	-1.89;-1.89	5.8	5.8	0.92144	5.8	5.8	0.92144	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94725	0.8298	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95673	0.8725	10	0.87932	D	0	-3.2798	17.5569	0.87894	0.0:1.0:0.0:0.0	.	180	Q8NCG5	CHST4_HUMAN	C	180	ENSP00000341206:R180C;ENSP00000441204:R180C	ENSP00000341206:R180C	R	+	1	0	0	CHST4	70128619	70128619	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.915000	0.56409	2.735000	0.93741	0.655000	0.94253	CGC		0.637	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4		16.385456	2	2	57	57	NM_005769		7	17.496374	17.496374	18	0.280000	0	0	0	1	0	7	18	0.28
ABHD2	11057	broad.mit.edu	37	15	89694924	89694924	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:89694924A>G	ENST00000352732.5	+	4	731	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	ABHD2_ENST00000565973.1_Missense_Mutation_p.I71V|ABHD2_ENST00000355100.3_Missense_Mutation_p.I71V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	71					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCCACCGTTGATCTGGGGGAA	0.453																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5											0			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(211-213)Atc>Gtc	abhydrolase domain containing 2						135.0	123.0	127.0					15																	89694924		2200	4299	6499	SO:0001583	missense	11057				integral to membrane	carboxylesterase activity	g.chr15:89694924A>G	X12433	X12433	CCDS10348.1	CCDS10348.1	15q26.1	2006-10-06			2006-10-06			ENSG00000140526	ENSG00000140526	ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	"""Abhydrolase domain containing"""	18717	18717	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612196	612196								Standard	Standard	NM_152924	NM_152924		Approved	LABH2	uc002bnk.2	uc002bnk.2	P08910	P08910	OTTHUMG00000148684	OTTHUMG00000148684	ENST00000352732.5:c.211A>G	15.37:g.89694924A>G	ENSP00000268129:p.Ile71Val		ABHD2_ENST00000565973.1_Missense_Mutation_p.I71V|ABHD2_ENST00000355100.3_Missense_Mutation_p.I71V	p.I71V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			4	731	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		71		Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.211A>G	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870785	0.51695	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.13901	2.55;2.55	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.059876	0.64402	D	0.000002	T	0.12008	0.0292	L	0.29908	0.895	0.47778	D	0.999519	B	0.18310	0.027	B	0.19946	0.027	T	0.16158	-1.0412	10	0.15066	T	0.55	-0.1146	16.5655	0.84588	1.0:0.0:0.0:0.0	.	71	P08910	ABHD2_HUMAN	V	71	ENSP00000268129:I71V;ENSP00000347217:I71V	ENSP00000268129:I71V	I	+	1	0	0	ABHD2	87495928	87495928	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.166000	0.58203	2.302000	0.77476	0.533000	0.62120	ATC		0.453	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2		107.771224	-66	-66	89	89			36	109.943305	109.943305	68	0.346154	0	0	0	1	0	36	68	0.346154
SNTG2	54221	broad.mit.edu	37	2	1263147	1263147	+	Silent	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr2:1263147C>T	ENST00000308624.5	+	13	1140	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	SNTG2_ENST00000407292.1_Silent_p.S210S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	337	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCAGGTGAGCACATTCGATT	0.403																																						ENST00000308624.5											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1009-1011)agC>agT	syntrophin, gamma 2						116.0	109.0	111.0					2																	1263147		1880	4128	6008	SO:0001819	synonymous_variant	54221			central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1263147C>T	AJ003029	AJ003029	CCDS46220.1	CCDS46220.1	2p25	2008-05-23			2008-05-23			ENSG00000172554	ENSG00000172554	ENSG00000172554	ENSG00000172554				13741	13741	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608715	608715						10747910	10747910	Standard	Standard	NM_018968	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	uc002qwq.3	Q9NY99	Q9NY99	OTTHUMG00000151370	OTTHUMG00000151370	ENST00000308624.5:c.1011C>T	2.37:g.1263147C>T			SNTG2_ENST00000407292.1_Silent_p.S210S	p.S337S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	13	1140	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	337	PH.	Q05AH5	Silent	SNP	ENST00000308624.5	37	c.1011C>T	CCDS46220.1																																																																																									0.403	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1		17.774874	-4	-4	49	49	NM_018968		8	21.329515	21.329515	33	0.195122	0	0	0	1	0	8	33	0.195122
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		38.800578	-10	-10	71	71	NM_002067		15	41.691458	41.691458	42	0.263158	0	0	0	1	0	15	42	0.263158
UBA1	7317	broad.mit.edu	37	X	47060312	47060312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chrX:47060312delC	ENST00000335972.6	+	6	683	c.500delC	c.(499-501)accfs	p.T167fs	UBA1_ENST00000377351.4_Frame_Shift_Del_p.T167fs	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	167	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCACCAACACCCCCCTGGAG	0.622																																						ENST00000335972.6											0			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(499-501)accfs	ubiquitin-like modifier activating enzyme 1						58.0	44.0	49.0					X																	47060312		2201	4295	6496	SO:0001589	frameshift_variant	7317			cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47060312delC	AF258566	AF258566	CCDS14275.1	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	"""Ubiquitin-like modifier activating enzymes"""	12469	12469	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	1845793	Standard	Standard	NM_153280	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	uc004dhj.4	P22314	P22314	OTTHUMG00000021436	OTTHUMG00000021436	ENST00000335972.6:c.500delC	X.37:g.47060312delC	ENSP00000338413:p.Thr167fs		UBA1_ENST00000377351.4_Frame_Shift_Del_p.T167fs	p.T167fs	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			6	683	+			167	2 approximate repeats.	Q5JRR8|Q96E13	Frame_Shift_Del	DEL	ENST00000335972.6	37	c.500delC	CCDS14275.1																																																																																									0.622	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	.	.	0	0	10	10	NM_003334		2			4	0.33						2	4	0.33
PURA	5813	broad.mit.edu	37	5	139493896	139493898	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr5:139493896_139493898delGGC	ENST00000331327.3	+	1	189_191	c.130_132delGGC	c.(130-132)ggcdel	p.G49del	PURA_ENST00000505703.1_3'UTR	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	49	Gly-rich.				DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)	p.G44delG(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cggcggcagtggcggcggcggcg	0.778																																						ENST00000331327.3											1	Deletion - In frame(1)	central_nervous_system(1)	central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(130-132)ggcdel	purine-rich element binding protein A			16,814		2,12,401						2.8	1.0			3	100,2536		12,76,1230	no	coding	PURA	NM_005859.4		14,88,1631	A1A1,A1R,RR		3.7936,1.9277,3.3468				116,3350				SO:0001651	inframe_deletion	5813			DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139493896_139493898delGGC	BC036087	BC036087	CCDS4220.1	CCDS4220.1	5q31	2008-02-05			2008-02-05			ENSG00000185129	ENSG00000185129	ENSG00000185129	ENSG00000185129				9701	9701	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600473	600473						1448097	1448097	Standard	Standard	NM_005859	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	uc003lfa.3	Q00577	Q00577	OTTHUMG00000129242	OTTHUMG00000129242	ENST00000331327.3:c.130_132delGGC	5.37:g.139493905_139493907delGGC	ENSP00000332706:p.Gly49del		PURA_ENST00000505703.1_3'UTR	p.G49del	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	189_191	+			49	Gly-rich.		In_Frame_Del	DEL	ENST00000331327.3	37	c.130_132delGGC	CCDS4220.1																																																																																									0.778	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	.	.	3	3	9	9	NM_005859		4			3	0.57						4	3	0.57
ABCB9	23457	broad.mit.edu	37	12	123466190	123466190	+	5'UTR	DEL	C	C	-	rs190753885		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr12:123466190delC	ENST00000542678.1	-	0	6				RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000357866.4_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000543566.1_Frame_Shift_Del_p.S202fs|ARL6IP4_ENST00000453766.2_Frame_Shift_Del_p.S213fs|ARL6IP4_ENST00000454885.2_Frame_Shift_Del_p.S87fs|ARL6IP4_ENST00000315580.5_Frame_Shift_Del_p.S221fs|ARL6IP4_ENST00000412505.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000392435.2_Frame_Shift_Del_p.S202fs|ARL6IP4_ENST00000426960.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000439686.2_Frame_Shift_Del_p.S90fs			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		AGctcctcctcctcttcttcc	0.562																																					Ovarian(49;786 1333 9175 38236)	ENST00000315580.5											0										c.(601-603)tccfs	ADP-ribosylation-like factor 6 interacting protein 4						21.0	21.0	21.0					12																	123466190		2197	4290	6487	SO:0001623	5_prime_UTR_variant	51329			RNA splicing	nucleus		g.chr12:123466190delC	U66676	AB035384	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	CCDS31923.1, CCDS41856.1, CCDS45004.1, CCDS53843.1, CCDS61273.1, CCDS31923.2, CCDS41856.2, CCDS45004.2, CCDS53843.2	12q24	2012-03-14			2014-05-12	2014-05-12		ENSG00000150967	ENSG00000150967	ENSG00000182196	ENSG00000182196		"""ATP binding cassette transporters / subfamily B"""		50	18076	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product		"""SRp25 nuclear protein"", ""splicing factor, arginine/serine-rich 20"""	605453	607668			"""ADP-ribosylation-like factor 6 interacting protein 4"""			8894702	10708573, 11884129	Standard	Standard	NM_019625	NM_018694		Approved	EST122234	uc001udm.4	uc001ued.3	Q9NP78	Q66PJ3		OTTHUMG00000168779	ENST00000542678.1:c.-2833G>-	12.37:g.123466190delC			ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000357866.4_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000439686.2_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000412505.2_Frame_Shift_Del_p.S79fs|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000454885.2_Frame_Shift_Del_p.S87fs|ARL6IP4_ENST00000453766.2_Frame_Shift_Del_p.S213fs|ARL6IP4_ENST00000426960.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000392435.2_Frame_Shift_Del_p.S202fs|ARL6IP4_ENST00000543566.1_Frame_Shift_Del_p.S202fs	p.S221fs			Q66PJ3	AR6P4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	3	930	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		221	Ser-rich.	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Frame_Shift_Del	DEL	ENST00000542678.1	37	c.602delC	CCDS9241.1																																																																																									0.562	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	.	.	-3	-3	7	7	NM_019624		2			4	0.33						2	4	0.33
