#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	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_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CNNM2	54805	broad.mit.edu	37	10	104678762	104678762	+	Silent	SNP	C	C	T			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr10:104678762C>T	ENST00000369878.4	+	1	713	c.525C>T	c.(523-525)atC>atT	p.I175I	CNNM2_ENST00000433628.2_Silent_p.I175I|CNNM2_ENST00000369875.3_Silent_p.I175I	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	175					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCATCGAGATCGAGATCAAAC	0.637																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(523-525)atC>atT		cyclin M2							132.0	142.0	139.0					10																	104678762		2201	4299	6500	SO:0001819	synonymous_variant	54805				ion transport	integral to membrane		g.chr10:104678762C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.525C>T	10.37:g.104678762C>T						CNNM2_ENST00000433628.2_Silent_p.I175I|CNNM2_ENST00000369875.3_Silent_p.I175I	p.I175I	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	649	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	175					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	c.525C>T	CCDS44474.1																																																																																				0.637	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		6	176	0	0	0	1	0	6	176				
VPS39	23339	broad.mit.edu	37	15	42453958	42453958	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr15:42453958C>T	ENST00000348544.4	-	25	2506	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	VPS39_ENST00000318006.5_Missense_Mutation_p.R825Q			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	836					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GTGTAAAATCCGCTCTTCCTG	0.517																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2473-2475)cGg>cAg		vacuolar protein sorting 39 homolog (S. cerevisiae)							212.0	191.0	198.0					15																	42453958		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42453958C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2507G>A	15.37:g.42453958C>T	ENSP00000335193:p.Arg836Gln					VPS39_ENST00000348544.4_Missense_Mutation_p.R836Q	p.R825Q	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	24	2636	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	836					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.2474G>A	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732636	0.89482	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.47177	0.85;0.85	5.6	5.6	0.85130	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.060711	0.64402	D	0.000003	T	0.49440	0.1557	L	0.54323	1.7	0.80722	D	1	P;B	0.34724	0.465;0.41	B;B	0.37601	0.254;0.165	T	0.40997	-0.9533	10	0.31617	T	0.26	-7.9889	19.6157	0.95633	0.0:1.0:0.0:0.0	.	836;825	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	Q	825;836	ENSP00000326534:R825Q;ENSP00000335193:R836Q	ENSP00000326534:R825Q	R	-	2	0	VPS39	40241250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.749000	0.68704	2.635000	0.89317	0.561000	0.74099	CGG		0.517	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		7	167	0	0	0	1	0	7	167				
IGDCC4	57722	broad.mit.edu	37	15	65686765	65686765	+	Silent	SNP	G	G	A	rs144581941	byFrequency	TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr15:65686765G>A	ENST00000352385.2	-	9	1907	c.1698C>T	c.(1696-1698)taC>taT	p.Y566Y		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	566	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCCCAAACCGTATTCTATCT	0.602																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1696-1698)taC>taT		immunoglobulin superfamily, DCC subclass, member 4		G		0,4402		0,0,2201	196.0	180.0	185.0		1698	0.0	1.0	15	dbSNP_134	185	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	IGDCC4	NM_020962.1		0,4,6496	AA,AG,GG		0.0465,0.0,0.0308		566/1251	65686765	4,12996	2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65686765G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1698C>T	15.37:g.65686765G>A							p.Y566Y	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			9	1907	-			566			Fibronectin type-III 2.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.1698C>T	CCDS10206.1																																																																																				0.602	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		7	145	0	0	0	1	0	7	145				
EPHA8	2046	broad.mit.edu	37	1	22913059	22913059	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr1:22913059G>A	ENST00000166244.3	+	4	982	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	EPHA8_ENST00000538803.1_Missense_Mutation_p.A304T|EPHA8_ENST00000374644.4_Missense_Mutation_p.A304T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	304	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.A304T(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCCAGCCGCCCAAGCCTG	0.657																																						ENST00000166244.3																			2	Substitution - Missense(2)	p.A304T(2)	lung(2)	breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(910-912)Gcc>Acc		EPH receptor A8							39.0	39.0	39.0					1																	22913059		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22913059G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.910G>A	1.37:g.22913059G>A	ENSP00000166244:p.Ala304Thr					EPHA8_ENST00000374644.4_Missense_Mutation_p.A304T|EPHA8_ENST00000538803.1_Missense_Mutation_p.A304T	p.A304T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	982	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	304			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.910G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	g	12.65	2.002347	0.35320	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.28454	1.61;4.97;4.97	4.05	2.16	0.27623	.	0.219099	0.37906	N	0.001894	T	0.18676	0.0448	L	0.56340	1.77	0.32302	N	0.564859	P;B	0.41131	0.739;0.27	B;B	0.22880	0.041;0.042	T	0.26326	-1.0106	10	0.44086	T	0.13	.	5.9907	0.19460	0.0911:0.0:0.575:0.3339	.	304;304	P29322;P29322-2	EPHA8_HUMAN;.	T	304	ENSP00000166244:A304T;ENSP00000363775:A304T;ENSP00000440274:A304T	ENSP00000166244:A304T	A	+	1	0	EPHA8	22785646	0.986000	0.35501	0.811000	0.32455	0.679000	0.39708	1.983000	0.40648	0.494000	0.27859	-0.372000	0.07161	GCC		0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		3	39	0	0	0	1	0	3	39				
USP29	57663	broad.mit.edu	37	19	57641660	57641660	+	Silent	SNP	T	T	G			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr19:57641660T>G	ENST00000254181.4	+	4	2071	c.1617T>G	c.(1615-1617)tcT>tcG	p.S539S	USP29_ENST00000598197.1_Silent_p.S539S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	539	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTATCTTCTTATTGCAATG	0.403																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1615-1617)tcT>tcG		ubiquitin specific peptidase 29							136.0	146.0	142.0					19																	57641660		2203	4300	6503	SO:0001819	synonymous_variant	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641660T>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1617T>G	19.37:g.57641660T>G						USP29_ENST00000598197.1_Silent_p.S539S	p.S539S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2071	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	539						Silent	SNP	ENST00000254181.4	37	c.1617T>G	CCDS33124.1																																																																																				0.403	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			6	159	0	0	0	1	0	6	159				
NOTCH1	4851	broad.mit.edu	37	9	139397709	139397709	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr9:139397709C>T	ENST00000277541.6	-	27	5167	c.5092G>A	c.(5092-5094)Gac>Aac	p.D1698N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1698					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGGCCACGTCGGTGGCACTC	0.637			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5092-5094)Gac>Aac		notch 1							56.0	67.0	63.0					9																	139397709		2136	4259	6395	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397709C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5092G>A	9.37:g.139397709C>T	ENSP00000277541:p.Asp1698Asn	HNSCC(8;0.001)					p.D1698N	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5167	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1698					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5092G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993277	0.93167	.	.	ENSG00000148400	ENST00000277541	T	0.30981	1.51	4.95	4.95	0.65309	Notch, NODP domain (1);	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41875	-0.9484	10	0.25106	T	0.35	.	17.524	0.87794	0.0:1.0:0.0:0.0	.	1698	P46531	NOTC1_HUMAN	N	1698	ENSP00000277541:D1698N	ENSP00000277541:D1698N	D	-	1	0	NOTCH1	138517530	1.000000	0.71417	0.851000	0.33527	0.607000	0.37147	5.876000	0.69667	2.457000	0.83068	0.561000	0.74099	GAC		0.637	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	30	0	0	0	1	0	3	30				
TEX14	56155	broad.mit.edu	37	17	56676544	56676544	+	Missense_Mutation	SNP	G	G	A	rs146894476	byFrequency	TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr17:56676544G>A	ENST00000240361.8	-	14	2265	c.2180C>T	c.(2179-2181)aCg>aTg	p.T727M	TEX14_ENST00000349033.5_Missense_Mutation_p.T721M|TEX14_ENST00000389934.3_Missense_Mutation_p.T721M			Q8IWB6	TEX14_HUMAN	testis expressed 14	727					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCTCAGTCGTGGACATGTT	0.438																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(2161-2163)aCg>aTg		testis expressed 14		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	259.0	247.0	251.0		2180,2162,2162	-5.7	0.0	17	dbSNP_134	251	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	81,81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	727/1498,721/1452,721/1492	56676544	2,13004	2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56676544G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2180C>T	17.37:g.56676544G>A	ENSP00000240361:p.Thr727Met					TEX14_ENST00000240361.8_Missense_Mutation_p.T727M|TEX14_ENST00000349033.5_Missense_Mutation_p.T721M	p.T721M	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			14	2279	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		727					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.2162C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	g	8.799	0.932416	0.18131	0.0	2.33E-4	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.79141	-1.24;-1.24;-1.2	5.54	-5.74	0.02391	.	0.940421	0.09028	N	0.859166	T	0.35335	0.0928	N	0.00436	-1.5	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29058	-1.0024	10	0.41790	T	0.15	-0.425	1.0442	0.01566	0.2086:0.1447:0.3229:0.3239	.	727;721;721	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	M	727;721;721	ENSP00000240361:T727M;ENSP00000374584:T721M;ENSP00000268910:T721M	ENSP00000240361:T727M	T	-	2	0	TEX14	54031543	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-2.315000	0.01124	-0.968000	0.03578	-1.137000	0.01932	ACG		0.438	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			4	214	0	0	0	1	0	4	214				
FAT2	2196	broad.mit.edu	37	5	150917382	150917382	+	Silent	SNP	C	C	T			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr5:150917382C>T	ENST00000261800.5	-	11	9177	c.9165G>A	c.(9163-9165)gcG>gcA	p.A3055A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3055	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3055A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATTCATGCGCCCCAGGGC	0.458																																						ENST00000261800.5																			1	Substitution - coding silent(1)	p.A3055A(1)	central_nervous_system(1)	NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9163-9165)gcG>gcA		FAT atypical cadherin 2							120.0	112.0	115.0					5																	150917382		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150917382C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9165G>A	5.37:g.150917382C>T							p.A3055A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	9177	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3055			Cadherin 27.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.9165G>A	CCDS4317.1																																																																																				0.458	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	48	0	0	0	1	0	3	48				
MYO1E	4643	broad.mit.edu	37	15	59506877	59506877	+	Missense_Mutation	SNP	T	T	A	rs532260829		TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr15:59506877T>A	ENST00000288235.4	-	11	1549	c.1150A>T	c.(1150-1152)Att>Ttt	p.I384F	RNU4-80P_ENST00000363200.1_RNA|AC092756.1_ENST00000401164.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	384	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AGGACGCCAATGTTGTATTCT	0.423													T|||	1	0.000199681	0.0	0.0	5008	,	,		19745	0.0		0.0	False		,,,				2504	0.001					ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1150-1152)Att>Ttt		myosin IE							213.0	202.0	205.0					15																	59506877		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59506877T>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1150A>T	15.37:g.59506877T>A	ENSP00000288235:p.Ile384Phe						p.I384F	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	11	1549	-			384			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1150A>T	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950206	0.73787	.	.	ENSG00000157483	ENST00000288235	D	0.97256	-4.31	5.14	5.14	0.70334	Myosin head, motor domain (3);	0.092104	0.64402	D	0.000001	D	0.99180	0.9716	H	0.99565	4.63	0.80722	D	1	D	0.57257	0.979	D	0.67103	0.949	D	0.98645	1.0677	10	0.87932	D	0	.	15.4162	0.74970	0.0:0.0:0.0:1.0	.	384	Q12965	MYO1E_HUMAN	F	384	ENSP00000288235:I384F	ENSP00000288235:I384F	I	-	1	0	MYO1E	57294169	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.303000	0.51858	2.285000	0.76669	0.533000	0.62120	ATT		0.423	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		5	121	0	0	0	1	0	5	121				
TMEM17	200728	broad.mit.edu	37	2	62728401	62728401	+	Silent	SNP	C	C	T			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr2:62728401C>T	ENST00000335390.5	-	4	751	c.540G>A	c.(538-540)cgG>cgA	p.R180R		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	180					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			TTGCAGAGAGCCGGTCAAAGT	0.428																																						ENST00000335390.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(538-540)cgG>cgA		transmembrane protein 17							135.0	126.0	129.0					2																	62728401		2203	4300	6503	SO:0001819	synonymous_variant	200728					integral to membrane		g.chr2:62728401C>T		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.540G>A	2.37:g.62728401C>T							p.R180R	NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		4	751	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		180					Q53QP7|Q53R98	Silent	SNP	ENST00000335390.5	37	c.540G>A	CCDS1871.1																																																																																				0.428	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		4	75	0	0	0	1	0	4	75				
