#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_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_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	t_alt_count	t_ref_count
SMCO3	440087	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	14959571	14959571	+	Missense_Mutation	SNP	C	C	T	rs201197590		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr12:14959571C>T	ENST00000316048.2	-	2	116	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	15						integral component of membrane (GO:0016021)		p.R15L(1)									TACTTCTTCCCGCCTTTTTGG	0.393																																																1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	440087				CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 69"""	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.44G>A	12.37:g.14959571C>T	ENSP00000381895:p.Arg15Gln		Q8NAI5	Missense_Mutation	SNP	ENST00000316048.2	37	CCDS41759.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528449	0.85706	.	.	ENSG00000179256	ENST00000316048	T	0.18174	2.23	5.25	5.25	0.73442	.	0.000000	0.35903	U	0.002908	T	0.27866	0.0686	N	0.24115	0.695	0.29829	N	0.830155	D	0.71674	0.998	D	0.75484	0.986	T	0.03662	-1.1015	10	0.66056	D	0.02	-2.6764	14.2019	0.65710	0.0:1.0:0.0:0.0	.	15	A2RU48	CL069_HUMAN	Q	15	ENSP00000381895:R15Q	ENSP00000381895:R15Q	R	-	2	0	C12orf69	14850838	0.997000	0.39634	0.999000	0.59377	0.978000	0.69477	3.433000	0.52834	2.722000	0.93159	0.555000	0.69702	CGG		0.393	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394738.1	NM_001013698		64	85	64	85
VPS13C	54832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	62214622	62214622	+	Missense_Mutation	SNP	C	C	A	rs115472982		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:62214622C>A	ENST00000261517.5	-	54	7022	c.6949G>T	c.(6949-6951)Gct>Tct	p.A2317S	VPS13C_ENST00000249837.3_Missense_Mutation_p.A2274S|VPS13C_ENST00000395898.3_Missense_Mutation_p.A2274S|VPS13C_ENST00000395896.4_Missense_Mutation_p.A2317S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAACAGCAGCCATTAGAGAA	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		17300	0.001		0.0	False		,,,				2504	0.0															0													88.0	90.0	90.0					15																	62214622		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6949G>T	15.37:g.62214622C>A	ENSP00000261517:p.Ala2317Ser			Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	5.868	0.344325	0.11126	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.13657	2.57;2.57;2.57	5.31	2.44	0.29823	.	0.830491	0.11612	N	0.546663	T	0.09818	0.0241	L	0.41236	1.265	0.19575	N	0.999963	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.002	T	0.42999	-0.9418	10	0.06099	T	0.92	.	8.8193	0.35016	0.0:0.7126:0.0:0.2874	.	2274;2317;2274;2317	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	2274;2317;2317;2317	ENSP00000249837:A2274S;ENSP00000261517:A2317S;ENSP00000379233:A2317S	ENSP00000249837:A2274S	A	-	1	0	VPS13C	60001914	0.856000	0.29760	0.677000	0.29947	0.344000	0.29017	0.896000	0.28377	0.334000	0.23590	0.650000	0.86243	GCT		0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		17	95	17	95
HERC1	8925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	63966612	63966612	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:63966612G>A	ENST00000443617.2	-	38	7862	c.7775C>T	c.(7774-7776)gCg>gTg	p.A2592V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2592					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CATGGCTTGCGCTCGTTCCAG	0.448																																																0													50.0	50.0	50.0					15																	63966612		1925	4139	6064	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7775C>T	15.37:g.63966612G>A	ENSP00000390158:p.Ala2592Val		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957347	0.92726	.	.	ENSG00000103657	ENST00000443617	T	0.50548	0.74	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	N	0.20986	0.625	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.55872	-0.8072	10	0.41790	T	0.15	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	2592	Q15751	HERC1_HUMAN	V	2592	ENSP00000390158:A2592V	ENSP00000390158:A2592V	A	-	2	0	HERC1	61753665	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	9.869000	0.99810	2.775000	0.95449	0.650000	0.86243	GCG		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		17	56	17	56
IDH2	3418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	138	Substitution - Missense(138)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)											85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			51	56	51	56
CDH16	1014	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	66950296	66950296	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr16:66950296C>T	ENST00000299752.4	-	4	359	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	CDH16_ENST00000565796.1_Missense_Mutation_p.V56M|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000568632.1_Missense_Mutation_p.V56M|CDH16_ENST00000394055.3_Missense_Mutation_p.V56M	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTGACAGCACGATCTGGCCT	0.622																																																0													65.0	56.0	59.0					16																	66950296		2200	4300	6500	SO:0001583	missense	1014			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.166G>A	16.37:g.66950296C>T	ENSP00000299752:p.Val56Met		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	8.892	0.954255	0.18431	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.70631	-0.5;-0.5	4.49	-1.07	0.09968	Cadherin (3);Cadherin-like (1);	0.576230	0.15932	N	0.237606	T	0.60143	0.2246	M	0.63169	1.94	0.09310	N	1	B;B;B	0.23185	0.063;0.037;0.081	B;B;B	0.20955	0.032;0.014;0.015	T	0.51772	-0.8663	10	0.48119	T	0.1	-5.2823	4.8796	0.13672	0.1443:0.4924:0.0:0.3632	.	56;56;56	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	M	56	ENSP00000377619:V56M;ENSP00000299752:V56M	ENSP00000299752:V56M	V	-	1	0	CDH16	65507797	0.000000	0.05858	0.009000	0.14445	0.027000	0.11550	-0.615000	0.05597	-0.226000	0.09899	-0.921000	0.02739	GTG		0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		15	29	15	29
C3	718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	6707823	6707823	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr19:6707823C>T	ENST00000245907.6	-	15	2055	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	655					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GCCCTCTGGGCGGTCTGCTGG	0.672																																																0													54.0	56.0	55.0					19																	6707823		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1963G>A	19.37:g.6707823C>T	ENSP00000245907:p.Ala655Thr		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	6.706	0.498938	0.12762	.	.	ENSG00000125730	ENST00000245907	T	0.32988	1.43	4.83	0.00112	0.14045	.	4.680170	0.00465	N	0.000108	T	0.20941	0.0504	L	0.33189	0.99	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.07028	-1.0794	10	0.13108	T	0.6	.	2.9279	0.05789	0.1312:0.4374:0.2765:0.1549	.	655	P01024	CO3_HUMAN	T	655	ENSP00000245907:A655T	ENSP00000245907:A655T	A	-	1	0	C3	6658823	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.806000	0.00758	-0.132000	0.11557	-0.241000	0.12123	GCC		0.672	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		84	93	84	93
CD209	30835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	7809893	7809893	+	Silent	SNP	G	G	A	rs61742035		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr19:7809893G>A	ENST00000315599.7	-	5	856	c.834C>T	c.(832-834)caC>caT	p.H278H	CD209_ENST00000204801.8_Silent_p.H234H|CD209_ENST00000593821.1_Silent_p.H142H|CD209_ENST00000601256.1_Silent_p.H254H|CD209_ENST00000301357.8_Silent_p.H142H|CD209_ENST00000602261.1_Silent_p.H186H|CD209_ENST00000354397.6_Silent_p.H278H|CD209_ENST00000601951.1_Silent_p.H254H|CD209_ENST00000394173.4_Silent_p.H117H|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Silent_p.H208H|CD209_ENST00000315591.8_Silent_p.H254H	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	278	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGATGGAGTCGTGCCAGTTCC	0.587																																																0													94.0	88.0	90.0					19																	7809893		2203	4300	6503	SO:0001819	synonymous_variant	30835			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.834C>T	19.37:g.7809893G>A			A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	CCDS12186.1																																																																																				0.587	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		50	64	50	64
EML4	27436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	42553330	42553330	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:42553330G>T	ENST00000318522.5	+	21	2541	c.2279G>T	c.(2278-2280)cGa>cTa	p.R760L	EML4_ENST00000401738.3_Missense_Mutation_p.R771L|EML4_ENST00000453191.2_Missense_Mutation_p.R24L|EML4_ENST00000402711.2_Missense_Mutation_p.R702L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	760					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATCAGGAATCGATCGGATTGT	0.368			T	ALK	NSCLC																																		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													154.0	146.0	149.0					2																	42553330		2203	4300	6503	SO:0001583	missense	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2279G>T	2.37:g.42553330G>T	ENSP00000320663:p.Arg760Leu		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566208	0.65651	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.65364	1.07;1.91;1.12;-0.15	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.055189	0.85682	D	0.000000	T	0.69735	0.3144	L	0.43152	1.355	0.80722	D	1	D;B;B;D	0.61080	0.989;0.014;0.269;0.989	P;B;B;P	0.58210	0.835;0.017;0.093;0.835	T	0.63888	-0.6535	10	0.29301	T	0.29	-10.894	19.5755	0.95441	0.0:0.0:1.0:0.0	.	702;702;771;760	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	L	760;702;771;24	ENSP00000320663:R760L;ENSP00000385059:R702L;ENSP00000384939:R771L;ENSP00000400590:R24L	ENSP00000320663:R760L	R	+	2	0	EML4	42406834	1.000000	0.71417	0.976000	0.42696	0.923000	0.55619	9.529000	0.98049	2.865000	0.98341	0.655000	0.94253	CGA		0.368	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		32	142	32	142
LRP2	4036	hgsc.bcm.edu;broad.mit.edu	37	2	170112638	170112638	+	Silent	SNP	C	C	T	rs570664576		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:170112638C>T	ENST00000263816.3	-	19	3033	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	LRP2_ENST00000443831.1_Silent_p.P779P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	916					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAAGTCCAAACGGATGTGTCA	0.373																																																0													105.0	99.0	101.0					2																	170112638		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2748G>A	2.37:g.170112638C>T			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.373	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		6	55	6	55
FGD5	152273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	14922122	14922122	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr3:14922122T>C	ENST00000285046.5	+	3	2812	c.2702T>C	c.(2701-2703)cTa>cCa	p.L901P	FGD5_ENST00000543601.1_Missense_Mutation_p.L660P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	901	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGAACTGCTATCTTCAGAG	0.532																																																0													83.0	83.0	83.0					3																	14922122		2064	4194	6258	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2702T>C	3.37:g.14922122T>C	ENSP00000285046:p.Leu901Pro		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336930	0.60963	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.67523	-0.27;-0.27	4.99	4.99	0.66335	Dbl homology (DH) domain (5);	0.541387	0.15247	N	0.272535	T	0.69333	0.3099	M	0.68593	2.085	0.80722	D	1	P;P	0.46578	0.88;0.88	P;P	0.45232	0.474;0.474	T	0.73266	-0.4037	10	0.87932	D	0	-15.8917	12.9328	0.58296	0.0:0.0:0.0:1.0	.	660;901	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	P	901;660	ENSP00000285046:L901P;ENSP00000445949:L660P	ENSP00000285046:L901P	L	+	2	0	FGD5	14897126	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.844000	0.62846	1.874000	0.54306	0.260000	0.18958	CTA		0.532	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		40	39	40	39
NIPBL	25836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	37022199	37022199	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr5:37022199C>A	ENST00000282516.8	+	28	5874	c.5375C>A	c.(5374-5376)gCc>gAc	p.A1792D	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1792D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1792					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CGAACAAAAGCCATGAAGTGT	0.343																																																0													128.0	118.0	121.0					5																	37022199		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5375C>A	5.37:g.37022199C>A	ENSP00000282516:p.Ala1792Asp		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972063	0.92919	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.77877	-1.13;-1.13	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87997	0.6319	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88943	0.3381	10	0.87932	D	0	.	19.1811	0.93623	0.0:1.0:0.0:0.0	.	1792;1792	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	D	1792	ENSP00000282516:A1792D;ENSP00000406266:A1792D	ENSP00000282516:A1792D	A	+	2	0	NIPBL	37057956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.418000	0.80167	2.592000	0.87571	0.650000	0.86243	GCC		0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		16	44	16	44
SIM1	6492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	100868815	100868815	+	Silent	SNP	G	G	A			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr6:100868815G>A	ENST00000369208.3	-	10	1800	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	SIM1_ENST00000262901.4_Silent_p.L340L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	340	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGAGCTGCAGCCCTTTGTAT	0.507																																																0													89.0	81.0	84.0					6																	100868815		2203	4300	6503	SO:0001819	synonymous_variant	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1018C>T	6.37:g.100868815G>A			Q5TDP7	Silent	SNP	ENST00000369208.3	37	CCDS5045.1																																																																																				0.507	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		12	23	12	23
ANKIB1	54467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	91981897	91981897	+	Silent	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:91981897C>T	ENST00000265742.3	+	9	1714	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	446							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGATACACTCAGCTTCCCAT	0.433																																																0													266.0	252.0	257.0					7																	91981897		1919	4136	6055	SO:0001819	synonymous_variant	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1338C>T	7.37:g.91981897C>T			Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	CCDS47639.1																																																																																				0.433	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			168	188	168	188
MATN2	4147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	99045826	99045826	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr8:99045826T>G	ENST00000520016.1	+	17	2878	c.2754T>G	c.(2752-2754)tgT>tgG	p.C918W	RPL30_ENST00000518164.1_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.C918W|MATN2_ENST00000524308.1_Missense_Mutation_p.C877W|MATN2_ENST00000522025.2_Missense_Mutation_p.C634W|MATN2_ENST00000521689.1_Missense_Mutation_p.C899W			O00339	MATN2_HUMAN	matrilin 2	918						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AATGCAAATGTGAAAACCTTA	0.388																																																0													87.0	80.0	82.0					8																	99045826		1848	4097	5945	SO:0001583	missense	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2754T>G	8.37:g.99045826T>G	ENSP00000430487:p.Cys918Trp		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	19.91|19.91|19.91	3.913992|3.913992|3.913992	0.72983|0.72983|0.72983	.|.|.	.|.|.	ENSG00000132561|ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000519582;ENST00000522135|ENST00000518154	D;D;D;D;D|.|.	0.92647|.|.	-3.08;-3.08;-3.08;-3.08;-3.08|.|.	5.73|5.73|5.73	4.57|4.57|4.57	0.56435|0.56435|0.56435	Matrilin, coiled-coil trimerisation domain (2);|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000001|.|.	T|T|.	0.64832|0.64832|.	0.2634|0.2634|.	M|M|M	0.68317|0.68317|0.68317	2.08|2.08|2.08	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.97110|.|.	0.999;1.0;0.999;0.999|.|.	T|T|.	0.63216|0.63216|.	-0.6687|-0.6687|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-13.3023|-13.3023|-13.3023	10.3733|10.3733|10.3733	0.44066|0.44066|0.44066	0.0:0.0739:0.0:0.9261|0.0:0.0739:0.0:0.9261|0.0:0.0739:0.0:0.9261	.|.|.	877;899;899;918|.|.	C9JH87;E9PF03;O00339-2;O00339|.|.	.;.;.;MATN2_HUMAN|.|.	W|G|G	899;918;877;877;634;918|155;81|682	ENSP00000429977:C899W;ENSP00000254898:C918W;ENSP00000430221:C877W;ENSP00000429010:C634W;ENSP00000430487:C918W|.|.	ENSP00000254898:C918W|.|.	C|V|X	+|+|+	3|2|1	2|0|0	MATN2|MATN2|MATN2	99115002|99115002|99115002	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	5.797000|5.797000|5.797000	0.69087|0.69087|0.69087	1.108000|1.108000|1.108000	0.41662|0.41662|0.41662	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TGT|GTG|TGA		0.388	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			9	9	9	9
WISP1	8840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	134225313	134225313	+	Silent	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr8:134225313C>T	ENST00000250160.6	+	2	382	c.276C>T	c.(274-276)atC>atT	p.I92I	WISP1_ENST00000517423.1_Silent_p.I92I|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Silent_p.I92I	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	92	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGCTGCCATCTGTGACCCCC	0.617																																																0													58.0	59.0	59.0					8																	134225313		2203	4300	6503	SO:0001819	synonymous_variant	8840			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.276C>T	8.37:g.134225313C>T			A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	CCDS6371.1																																																																																				0.617	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		55	87	55	87
CDK5RAP2	55755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	123342218	123342218	+	Silent	SNP	A	A	G			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:123342218A>G	ENST00000349780.4	-	1	218	c.39T>C	c.(37-39)ccT>ccC	p.P13P	CDK5RAP2_ENST00000359309.3_Silent_p.P13P|CDK5RAP2_ENST00000360822.3_Silent_p.P13P|CDK5RAP2_ENST00000360190.4_Silent_p.P13P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	13					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGAGCGTCCCAGGGACGGTGA	0.662																																																0													43.0	35.0	38.0					9																	123342218		2203	4300	6503	SO:0001819	synonymous_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.39T>C	9.37:g.123342218A>G			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	CCDS6823.1																																																																																				0.662	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		17	53	17	53
NOTCH1	4851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	139412278	139412278	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:139412278C>T	ENST00000277541.6	-	8	1442	c.1367G>A	c.(1366-1368)tGc>tAc	p.C456Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	456	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GTTCGAGACGCACTCGTTGAC	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													57.0	64.0	62.0					9																	139412278		2179	4262	6441	SO:0001583	missense	4851			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.1367G>A	9.37:g.139412278C>T	ENSP00000277541:p.Cys456Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305986	0.81247	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99924	4.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96191	0.9138	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	456	P46531	NOTC1_HUMAN	Y	456	ENSP00000277541:C456Y	ENSP00000277541:C456Y	C	-	2	0	NOTCH1	138532099	1.000000	0.71417	0.966000	0.40874	0.731000	0.41821	7.584000	0.82572	2.088000	0.63022	0.462000	0.41574	TGC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		71	43	71	43
POF1B	79983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	84586012	84586012	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:84586012C>T	ENST00000262753.4	-	7	942	c.797G>A	c.(796-798)cGt>cAt	p.R266H	POF1B_ENST00000373145.3_Missense_Mutation_p.R266H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	266						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CGTATTCTTACGGCTCAGATC	0.383																																																0													108.0	91.0	97.0					X																	84586012		2203	4300	6503	SO:0001583	missense	79983			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.797G>A	X.37:g.84586012C>T	ENSP00000262753:p.Arg266His		A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365477	0.61513	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.26067	1.76;1.76	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.58101	1.795	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.41680	-0.9495	10	0.54805	T	0.06	-0.0188	16.0996	0.81163	0.0:1.0:0.0:0.0	.	266;266	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	H	266	ENSP00000262753:R266H;ENSP00000362238:R266H	ENSP00000262753:R266H	R	-	2	0	POF1B	84472668	1.000000	0.71417	0.845000	0.33349	0.209000	0.24338	4.530000	0.60595	2.404000	0.81709	0.600000	0.82982	CGT		0.383	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		27	5	27	5
COL4A5	1287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	107823773	107823773	+	Missense_Mutation	SNP	G	G	T	rs104886070		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:107823773G>T	ENST00000361603.2	+	14	1035	c.791G>T	c.(790-792)gGt>gTt	p.G264V	COL4A5_ENST00000328300.6_Missense_Mutation_p.G264V	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	264	Triple-helical region.		G -> R (in APSX; adult type).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACTTCCTGGTGACCGAGGG	0.428									Alport syndrome with Diffuse Leiomyomatosis																																							0			GRCh37	CM052207	COL4A5	M	rs104886070						137.0	120.0	126.0					X																	107823773		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.791G>T	X.37:g.107823773G>T	ENSP00000354505:p.Gly264Val		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733671	0.69189	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97941	-4.62;-4.62	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98844	1.0756	10	0.87932	D	0	.	18.7695	0.91885	0.0:0.0:1.0:0.0	.	264;264	E7EVY4;P29400	.;CO4A5_HUMAN	V	264	ENSP00000331902:G264V;ENSP00000354505:G264V	ENSP00000331902:G264V	G	+	2	0	COL4A5	107710429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.581000	0.82535	2.377000	0.81083	0.600000	0.82982	GGT		0.428	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			76	6	76	6
ZCWPW1	55063	broad.mit.edu;hgsc.bcm.edu	37	7	100014771	100014773	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:100014771_100014773delAAG	ENST00000398027.2	-	6	642_644	c.395_397delCTT	c.(394-399)tcttgt>tgt	p.S132del	ZCWPW1_ENST00000490721.1_In_Frame_Del_p.S11del|ZCWPW1_ENST00000360951.4_In_Frame_Del_p.S132del|ZCWPW1_ENST00000324725.6_In_Frame_Del_p.S11del	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	132							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCTGGGCACAAGAAGTCTCTGC	0.419																																																0																																										SO:0001651	inframe_deletion	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.395_397delCTT	7.37:g.100014774_100014776delAAG	ENSP00000381109:p.Ser132del		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	In_Frame_Del	DEL	ENST00000398027.2	37	CCDS43623.1																																																																																				0.419	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		22	79	22	79
NF1	4763	broad.mit.edu;hgsc.bcm.edu	37	17	29665752	29665755	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:29665752_29665755delACTT	ENST00000358273.4	+	46	7233_7236	c.6850_6853delACTT	c.(6850-6855)acttacfs	p.TY2284fs	NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Frame_Shift_Del_p.TY77fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.TY2263fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2284					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.Y2285fs*5(6)|p.?(3)|p.Y2285fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGACCTGACACTTACAACAGTCA	0.319			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	18	Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(3)	soft_tissue(8)|central_nervous_system(6)|autonomic_ganglia(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	GRCh37	CD951799|CI972654	NF1	D|I																																				SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6850_6853delACTT	17.37:g.29665752_29665755delACTT	ENSP00000351015:p.Thr2284fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.319	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		67	19	67	19
SYNRG	11276	broad.mit.edu;hgsc.bcm.edu	37	17	35902548	35902549	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:35902548_35902549delGA	ENST00000339208.6	-	15	2867_2868	c.2727_2728delTC	c.(2725-2730)tctccafs	p.P910fs	SYNRG_ENST00000394378.2_Frame_Shift_Del_p.P832fs|SYNRG_ENST00000345615.4_Frame_Shift_Del_p.P832fs|SYNRG_ENST00000346661.4_Frame_Shift_Del_p.P910fs|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000585472.1_Frame_Shift_Del_p.P831fs|SYNRG_ENST00000502449.2_Intron	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	910					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGACAAATGGAGAGAGTTTTC	0.455																																																0																																										SO:0001589	frameshift_variant	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2727_2728delTC	17.37:g.35902552_35902553delGA	ENSP00000343610:p.Pro910fs		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Frame_Shift_Del	DEL	ENST00000339208.6	37	CCDS11321.1																																																																																				0.455	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		21	98	21	98
MAP3K15	389840	broad.mit.edu;hgsc.bcm.edu	37	X	19380935	19380938	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:19380935_19380938delCTCT	ENST00000338883.4	-	26	3596_3599	c.3597_3600delAGAG	c.(3595-3600)agagagfs	p.RE1199fs	MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.RE634fs|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.RE1031fs|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1199							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GATTCTGGTACTCTCTCTCTTTTT	0.328																																																0																																										SO:0001589	frameshift_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3597_3600delAGAG	X.37:g.19380939_19380942delCTCT	ENSP00000345629:p.Arg1199fs		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Frame_Shift_Del	DEL	ENST00000338883.4	37																																																																																					0.328	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		26	58	26	58
