#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
ACTL7B	10880	broad.mit.edu	37	9	111617426	111617426	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr9:111617426G>A	ENST00000374667.3	-	1	1813	c.785C>T	c.(784-786)gCg>gTg	p.A262V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	262						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGAAGGCCGCATAGCAGCA	0.612																																						ENST00000374667.3											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(784-786)gCg>gTg	actin-like 7B						50.0	48.0	49.0					9																	111617426		2203	4300	6503	SO:0001583	missense	10880				actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617426G>A	BC033789	BC033789	CCDS6771.1	CCDS6771.1	9q31	2009-05-15			2009-05-15			ENSG00000148156	ENSG00000148156	ENSG00000148156	ENSG00000148156				162	162	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604304	604304						10373328, 12907721	10373328, 12907721	Standard	Standard	NM_006686	NM_006686		Approved	Tact1	uc004bdi.3	uc004bdi.3	Q9Y614	Q9Y614	OTTHUMG00000020462	OTTHUMG00000020462	ENST00000374667.3:c.785C>T	9.37:g.111617426G>A	ENSP00000363799:p.Ala262Val			p.A262V	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1813	-			262		B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.785C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	1.940	-0.443762	0.04604	.	.	ENSG00000148156	ENST00000374667	D	0.89050	-2.46	5.26	4.35	0.52113	5.26	4.35	0.52113	.	0.646195	0.12239	N	0.486687	T	0.60650	0.2285	N	0.00058	-2.35	0.34135	D	0.66565	B	0.20164	0.042	B	0.18561	0.022	T	0.66118	-0.6003	10	0.87932	D	0	.	7.077	0.25209	0.1855:0.0:0.8145:0.0	.	262	Q9Y614	ACL7B_HUMAN	V	262	ENSP00000363799:A262V	ENSP00000363799:A262V	A	-	2	0	0	ACTL7B	110657247	110657247	0.188000	0.23250	0.288000	0.24862	0.176000	0.22953	3.366000	0.52343	2.458000	0.83093	0.655000	0.94253	GCG		0.612	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1		-4.217065	3	3	54	54	NM_006686		3	6.453201	6.453201	49	0.057692	0	0	0	1	0	3	49	0.057692
MACF1	23499	broad.mit.edu	37	1	39853083	39853083	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr1:39853083G>A	ENST00000372915.3	+	57	14671	c.14584G>A	c.(14584-14586)Ggg>Agg	p.G4862R	MACF1_ENST00000539005.1_Missense_Mutation_p.G2774R|MACF1_ENST00000361689.2_Missense_Mutation_p.G2795R|MACF1_ENST00000289893.4_Missense_Mutation_p.G3297R|MACF1_ENST00000567887.1_Missense_Mutation_p.G4894R|MACF1_ENST00000564288.1_Missense_Mutation_p.G4857R|MACF1_ENST00000545844.1_Missense_Mutation_p.G2795R|MACF1_ENST00000317713.7_Missense_Mutation_p.G2795R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4862					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTGAAGGGGAATCTCT	0.428																																						ENST00000564288.1											0			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14569-14571)Ggg>Agg	microtubule-actin crosslinking factor 1						123.0	140.0	134.0					1																	39853083		2203	4300	6503	SO:0001583	missense	23499			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853083G>A	AB007934	AB007934	CCDS435.1	CCDS435.1	1p32-p31	2013-01-10			2013-01-10			ENSG00000127603	ENSG00000127603	ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	"""EF-hand domain containing"""	13664	13664	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271	608271						7635207, 10529403	7635207, 10529403	Standard	Standard	NM_012090	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	uc031pmc.1	Q9UPN3	Q9UPN3	OTTHUMG00000007754	OTTHUMG00000007754	ENST00000372915.3:c.14584G>A	1.37:g.39853083G>A	ENSP00000362006:p.Gly4862Arg		MACF1_ENST00000545844.1_Missense_Mutation_p.G2795R|MACF1_ENST00000539005.1_Missense_Mutation_p.G2774R|MACF1_ENST00000372915.3_Missense_Mutation_p.G4862R|MACF1_ENST00000361689.2_Missense_Mutation_p.G2795R|MACF1_ENST00000317713.7_Missense_Mutation_p.G2795R|MACF1_ENST00000567887.1_Missense_Mutation_p.G4894R|MACF1_ENST00000289893.4_Missense_Mutation_p.G3297R	p.G4857R			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	15346	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4862		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14569G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.347575|4.347575	0.82022|0.82022	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0|.	6.17|6.17	6.17|6.17	0.99709|0.99709	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.77685|0.77685	0.4167|0.4167	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.996;0.996|.	T|T	0.73924|0.73924	-0.3829|-0.3829	10|5	0.66056|.	D|.	0.02|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4862;2795;2739|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	R|K	2795;4862;2795;2795;2774;3297|1907	ENSP00000439537:G2795R;ENSP00000362006:G4862R;ENSP00000354573:G2795R;ENSP00000313438:G2795R;ENSP00000444364:G2774R;ENSP00000289893:G3297R|.	ENSP00000289893:G3297R|.	G|R	+|+	1|2	0|0	0|0	MACF1|MACF1	39625670|39625670	39625670|39625670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		144.068123	-64	-64	146	146	NM_033044		45	144.285113	144.285113	55	0.450000	0	0	0	1	0	45	55	0.45
ITPR1	3708	broad.mit.edu	37	3	4725409	4725409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr3:4725409G>A	ENST00000443694.2	+	25	3380	c.3380G>A	c.(3379-3381)tGg>tAg	p.W1127*	ITPR1_ENST00000354582.6_Nonsense_Mutation_p.W1142*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.W1127*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.W1118*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1142					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCAGAGCTTTGGGTGTACAAA	0.463																																						ENST00000354582.6											0			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(3424-3426)tGg>tAg	inositol 1,4,5-trisphosphate receptor, type 1						103.0	96.0	98.0					3																	4725409		1946	4137	6083	SO:0001587	stop_gained	3708			activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4725409G>A	D26070	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28		2014-06-12	2011-04-28			ENSG00000150995		ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	"""Ion channels / Inositol triphosphate receptors"""	6180	6180	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	"""protein phosphatase 1, regulatory subunit 94"""	147265	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	7945203, 7500840, 17590087, 17932120, 22986007	Standard	Standard	NM_001099952	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	uc003bqc.3	Q14643	Q14643			ENST00000443694.2:c.3380G>A	3.37:g.4725409G>A	ENSP00000401671:p.Trp1127*		ITPR1_ENST00000423119.2_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.W1127*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.W1118*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.W1127*|ITPR1_ENST00000544951.1_Intron	p.W1142*			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	28	3775	+			1142		E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	c.3425G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	42	9.686899	0.99238	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0171	0.86422	0.0:0.0:1.0:0.0	.	.	.	.	X	1142;1127;1142;1133;1133;1118;1127	.	ENSP00000306253:W1127X	W	+	2	0	0	ITPR1	4700409	4700409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.449000	0.97603	2.419000	0.82065	0.655000	0.94253	TGG		0.463	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		50.992010	-25	-25	34	34	NM_002222		16	51.115005	51.115005	12	0.571429	0	0	0	1	0	16	12	0.571429
KCNK13	56659	broad.mit.edu	37	14	90651142	90651142	+	Missense_Mutation	SNP	G	G	A	rs538269862		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:90651142G>A	ENST00000282146.4	+	2	1463	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	341					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GACGGGCGCCGGCTCTCAGGG	0.612																																						ENST00000282146.4											0			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(1021-1023)cGg>cAg	potassium channel, subfamily K, member 13						52.0	54.0	53.0					14																	90651142		2203	4300	6503	SO:0001583	missense	56659				integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651142G>A	AF287303	AF287303	CCDS9889.1	CCDS9889.1	14q32.11	2012-03-07			2012-03-07				ENSG00000152315		ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	6275	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607367	607367						11060316, 16382106	11060316, 16382106	Standard	Standard	NM_022054	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	uc001xye.1	Q9HB14	Q9HB14			ENST00000282146.4:c.1022G>A	14.37:g.90651142G>A	ENSP00000282146:p.Arg341Gln			p.R341Q	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1463	+		all_cancers(154;0.186)	341		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.1022G>A	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180478	0.57800	.	.	ENSG00000152315	ENST00000282146	T	0.49139	0.79	5.18	4.29	0.51040	5.18	4.29	0.51040	.	0.182554	0.26995	N	0.021441	T	0.69006	0.3063	M	0.83603	2.65	0.58432	D	0.999999	D	0.71674	0.998	D	0.68353	0.957	T	0.73839	-0.3856	10	0.62326	D	0.03	.	13.6466	0.62286	0.075:0.0:0.925:0.0	.	341	Q9HB14	KCNKD_HUMAN	Q	341	ENSP00000282146:R341Q	ENSP00000282146:R341Q	R	+	2	0	0	KCNK13	89720895	89720895	1.000000	0.71417	0.456000	0.27044	0.009000	0.06853	9.842000	0.99487	1.192000	0.43071	-0.136000	0.14681	CGG		0.612	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1		32.149940	-7	-7	63	63	NM_022054		12	33.183984	33.183984	25	0.324324	0	0	0	1	0	12	25	0.324324
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	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		163.608421	-42	-42	70	70	NM_002072		48	164.899767	164.899767	27	0.640000	0	0	0	1	0	48	27	0.64
PCDHA6	56142	broad.mit.edu	37	5	140209783	140209783	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr5:140209783G>A	ENST00000529310.1	+	1	2221	c.2107G>A	c.(2107-2109)Gcc>Acc	p.A703T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	703					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCATCGCCATCTGCGC	0.687																																						ENST00000529310.1											0			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2107-2109)Gcc>Acc							58.0	60.0	59.0					5																	140209783		2203	4296	6499	SO:0001583	missense	0						g.chr5:140209783G>A	AF152484	AF152484	CCDS47281.1, CCDS47282.1	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			2010-11-26			ENSG00000081842	ENSG00000081842	ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	"""Cadherins / Protocadherins : Clustered"""	8672	8672	other	complex locus constituent	other	complex locus constituent	"""KIAA0345-like 8"""	"""KIAA0345-like 8"""	606312	606312		CNRS2		CNRS2		10380929, 10662547	10380929, 10662547	Standard	Standard	NM_018909	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6			Q9UN73	Q9UN73	OTTHUMG00000163353	OTTHUMG00000163353	ENST00000529310.1:c.2107G>A	5.37:g.140209783G>A	ENSP00000433378:p.Ala703Thr		PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.A703T	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2221	+					O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2107G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186855	0.38609	.	.	ENSG00000081842	ENST00000529310	T	0.20463	2.07	4.12	3.23	0.37069	4.12	3.23	0.37069	.	0.000000	0.36482	U	0.002577	T	0.52008	0.1708	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.936	T	0.55879	-0.8071	10	0.87932	D	0	.	4.9613	0.14068	0.0829:0.1465:0.6195:0.1511	.	703;703	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	703	ENSP00000433378:A703T	ENSP00000433378:A703T	A	+	1	0	0	PCDHA6	140189967	140189967	0.572000	0.26668	0.917000	0.36280	0.106000	0.19336	1.585000	0.36600	1.059000	0.40554	0.306000	0.20318	GCC		0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		-6.425355	-29	-29	84	84	NM_018909		3	6.461618	6.461618	57	0.050000	0	0	0	1	0	3	57	0.05
AP1G2	8906	ucsc.edu	37	14	24029488	24029488	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:24029488G>T	ENST00000308724.5	-	19	2888	c.2133C>A	c.(2131-2133)ttC>ttA	p.F711L	RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.F711L|RP11-66N24.4_ENST00000555446.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	711	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCTGGCAGATGAAATGGGTGA	0.522											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																	91.0	83.0	86.0					14																	24029488		2203	4300	6503	SO:0001583	missense	8906							AB015318	AB015318	CCDS9602.1	CCDS9602.1	14q11.2	2008-07-03			2008-07-03			ENSG00000213983	ENSG00000213983	ENSG00000213983	ENSG00000213983				556	556	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603534	603534						9733768, 9762922	9733768, 9762922	Standard	Standard	XM_005268167	XM_005268167		Approved	G2AD	uc001wkl.2	uc001wkl.2	O75843	O75843	OTTHUMG00000028760	OTTHUMG00000028760	ENST00000308724.5:c.2133C>A	14.37:g.24029488G>T	ENSP00000312442:p.Phe711Leu	768																D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37		CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445521	0.84101	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852;ENST00000554477	T;T;T	0.58940	0.3;0.3;0.3	4.97	2.84	0.33178	4.97	2.84	0.33178	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.73753	2.245	0.43714	D	0.996189	P;P	0.41393	0.594;0.748	P;P	0.49192	0.448;0.602	T	0.61367	-0.7077	10	0.49607	T	0.09	-20.6426	5.8624	0.18757	0.3174:0.0:0.6826:0.0	.	711;566	O75843;Q86V28	AP1G2_HUMAN;.	L	711;711;480;566;173	ENSP00000312442:F711L;ENSP00000380309:F711L;ENSP00000450805:F173L	ENSP00000312442:F711L	F	-	3	2	2	AP1G2	23099328	23099328	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	1.159000	0.31749	1.138000	0.42230	0.655000	0.94253	TTC		0.522	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4			-25	-25	25	25	NM_003917		4			22							4	22	
SERPINA9	327657	broad.mit.edu	37	14	94935951	94935951	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:94935951G>A	ENST00000380365.3	-	2	305	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S58F|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000337425.5_Missense_Mutation_p.S94F			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	76					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CAGGGAAGTGGAGACACTCAC	0.577																																						ENST00000337425.5											0			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(280-282)tCc>tTc	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						73.0	81.0	78.0					14																	94935951		2131	4259	6390	SO:0001583	missense	327657			regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935951G>A	AY185497	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054	ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	"""Serine (or cysteine) peptidase inhibitors"""	15995	15995	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615677	615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""		"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	24172014	Standard	Standard	NM_175739	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	uc001ydf.3	Q86WD7	Q86WD7	OTTHUMG00000167710	OTTHUMG00000167710	ENST00000380365.3:c.227C>T	14.37:g.94935951G>A	ENSP00000369723:p.Ser76Phe		SERPINA9_ENST00000380365.3_Missense_Mutation_p.S76F|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S58F|SERPINA9_ENST00000298845.7_Intron	p.S94F	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	355	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	76		B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.281C>T		.	.	.	.	.	.	.	.	.	.	G	17.42	3.386000	0.61956	.	.	ENSG00000170054	ENST00000337425;ENST00000380365;ENST00000546329	D;D;D	0.88818	-2.43;-2.43;-2.43	3.99	3.09	0.35607	3.99	3.09	0.35607	Serpin domain (3);	0.000000	0.56097	U	0.000028	D	0.93903	0.8049	M	0.82630	2.6	0.42146	D	0.991532	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.93989	0.7265	10	0.87932	D	0	.	11.8801	0.52571	0.0877:0.0:0.9123:0.0	.	58;76;94	Q86WD7-4;Q86WD7;Q86WD7-7	.;SPA9_HUMAN;.	F	94;76;58	ENSP00000337133:S94F;ENSP00000369723:S76F;ENSP00000445476:S58F	ENSP00000337133:S94F	S	-	2	0	0	SERPINA9	94005704	94005704	1.000000	0.71417	0.334000	0.25495	0.759000	0.43091	3.878000	0.56130	0.797000	0.33971	0.313000	0.20887	TCC		0.577	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2		58.381889	-7	-7	47	47	NM_175739		19	58.496202	58.496202	24	0.441860	0	0	0	1	0	19	24	0.44186
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2											0			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)acaagc>agc	T-cell immunoglobulin and mucin domain containing 4																																			SO:0001651	inframe_deletion	91937				integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	BC008988	CCDS4332.1, CCDS54943.1	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			2013-01-11			ENSG00000145850	ENSG00000145850	ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	"""Immunoglobulin superfamily / V-set domain containing"""	25132	25132	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610096	610096						12477932	12477932	Standard	Standard	NM_001146726	NM_001146726		Approved		uc003lwh.2	uc003lwh.2	Q96H15	Q96H15	OTTHUMG00000130244	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del		TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152	Thr-rich.	B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																									0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	.	.	-63	-63	218	218	NM_138379		7			218	0.03						7	218	0.03
KIF26A	26153	broad.mit.edu	37	14	104633326	104633326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:104633326delC	ENST00000423312.2	+	5	1054	c.1054delC	c.(1054-1056)cccfs	p.P353fs	KIF26A_ENST00000315264.7_Frame_Shift_Del_p.P214fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	353					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.C354fs*19(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCCCCGGCGCCCCCCTGCCT	0.731																																						ENST00000315264.7											1	Deletion - Frameshift(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(637-639)cccfs	kinesin family member 26A						8.0	12.0	11.0					14																	104633326		1855	4024	5879	SO:0001589	frameshift_variant	26153			blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104633326delC	AB033062	AB033062	CCDS45171.1	CCDS45171.1	14q32.33	2009-03-19			2009-03-19			ENSG00000066735	ENSG00000066735	ENSG00000066735	ENSG00000066735		"""Kinesins"""	"""Kinesins"""	20226	20226	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613231	613231						10574462, 11416179	10574462, 11416179	Standard	Standard	NM_015656	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	uc001yos.4	Q9ULI4	Q9ULI4	OTTHUMG00000154986	OTTHUMG00000154986	ENST00000423312.2:c.1054delC	14.37:g.104633326delC	ENSP00000388241:p.Pro353fs		KIF26A_ENST00000423312.2_Frame_Shift_Del_p.P353fs	p.P214fs			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	4	1015	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	353		Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Del	DEL	ENST00000423312.2	37	c.637delC	CCDS45171.1																																																																																									0.731	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1	.	.	3	3	8	8			2			4	0.33						2	4	0.33
RP11-152K4.2	0	broad.mit.edu	37	5	31109819	31109819	+	RNA	DEL	T	T	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr5:31109819delT	ENST00000523584.1	-	0	267																											gaggggtgccttcgatgtcat	0.488																																						ENST00000523584.1											0																																																0						g.chr5:31109819delT																																																		5.37:g.31109819delT											0	267	-						RNA	DEL	ENST00000523584.1	37																																																																																											0.488	RP11-152K4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000374535.1	.	.	2	2	17	17			2			4	0.33						2	4	0.33
SOCS7	30837	broad.mit.edu	37	17	36508157	36508159	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr17:36508157_36508159delGGA	ENST00000577233.1	+	1	30_32	c.30_32delGGA	c.(28-33)ccggag>ccg	p.E13del	SOCS7_ENST00000331159.5_In_Frame_Del_p.E13del	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	13					fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GTCGGCCGCCGGAGGAGGAGGAC	0.788																																						ENST00000577233.1											0			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9						c.(28-33)ccggag>ccg	suppressor of cytokine signaling 7																																			SO:0001651	inframe_deletion	30837			intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding	g.chr17:36508157_36508159delGGA	AB005216	AB005216	CCDS32637.1	CCDS32637.1	17q12	2014-08-12			2014-08-12			ENSG00000274211	ENSG00000274211	ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	29846	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788	608788						9344857, 12076535	9344857, 12076535	Standard	Standard	XM_005257264	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	uc002hqa.3	O14512	O14512	OTTHUMG00000188546	OTTHUMG00000188546	ENST00000577233.1:c.30_32delGGA	17.37:g.36508166_36508168delGGA	ENSP00000464034:p.Glu13del		SOCS7_ENST00000331159.5_In_Frame_Del_p.E13del	p.E13del	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN			1	30_32	+	Breast(7;3.47e-17)		13		A2VCU2|Q0IJ63	In_Frame_Del	DEL	ENST00000577233.1	37	c.30_32delGGA	CCDS32637.1																																																																																									0.788	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	.	.	-2	-2	5	5	XM_371052		2			4	0.33						2	4	0.33
COA7	65260	broad.mit.edu	37	1	53153670	53153670	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr1:53153670delT	ENST00000371538.3	-	3	457	c.418delA	c.(418-420)aggfs	p.R140fs	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TCACAGGCCCTTGTGTAGTAG	0.542																																						ENST00000371538.3											0			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						c.(418-420)aggfs	Sel1 repeat containing 1						136.0	115.0	122.0					1																	53153670		2203	4300	6503	SO:0001589	frameshift_variant	65260					binding	g.chr1:53153670delT																																																	ENST00000371538.3:c.418delA	1.37:g.53153670delT	ENSP00000360593:p.Arg140fs		SELRC1_ENST00000486918.1_5'UTR	p.R140fs	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN			3	457	-			140			Frame_Shift_Del	DEL	ENST00000371538.3	37	c.418delA	CCDS570.1																																																																																									0.542	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1	.	.	-22	-22	77	77			32			42	0.43						32	42	0.43
