#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
ZNF33B	7582	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	43088769	43088769	+	Silent	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:43088769A>G	ENST00000359467.3	-	5	1743	c.1629T>C	c.(1627-1629)caT>caC	p.H543H	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GCGTTCTCTGATGTATTGTGA	0.428																																					Melanoma(137;1247 1767 16772 25727 43810)											0													128.0	123.0	125.0					10																	43088769		2203	4300	6503	SO:0001819	synonymous_variant	7582			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1629T>C	10.37:g.43088769A>G			Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	CCDS7198.1																																																																																				0.428	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		26	119	26	119
MRPL43	84545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	102739072	102739072	+	Missense_Mutation	SNP	T	T	C	rs576770183		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:102739072T>C	ENST00000318325.2	-	5	639	c.586A>G	c.(586-588)Atg>Gtg	p.M196V	MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.Y238C|SEMA4G_ENST00000210633.3_Intron|SEMA4G_ENST00000370250.4_Intron	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	196					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCGGACAGCATAGGGGCTGGA	0.502													t|||	1	0.000199681	0.0008	0.0	5008	,	,		20216	0.0		0.0	False		,,,				2504	0.0															0													67.0	61.0	63.0					10																	102739072		2203	4300	6503	SO:0001583	missense	84545			AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"""Mitochondrial ribosomal proteins / large subunits"""	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.586A>G	10.37:g.102739072T>C	ENSP00000315364:p.Met196Val		B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	Missense_Mutation	SNP	ENST00000318325.2	37	CCDS7502.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	12.71|12.71	2.020330|2.020330	0.35606|0.35606	.|.	.|.	ENSG00000055950|ENSG00000055950	ENST00000318325|ENST00000370242	.|.	.|.	.|.	4.93|4.93	-8.05|-8.05	0.01106|0.01106	.|.	.|5.475080	.|0.00166	.|N	.|0.000007	T|T	0.16938|0.16938	0.0407|0.0407	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.24297|0.24297	-1.0164|-1.0164	8|9	0.41790|0.87932	T|D	0.15|0	.|.	5.121|5.121	0.14860|0.14860	0.077:0.4216:0.1414:0.36|0.077:0.4216:0.1414:0.36	.|.	196|238	Q8N983|B1AL06	RM43_HUMAN|.	V|C	196|238	.|.	ENSP00000315364:M196V|ENSP00000359262:Y238C	M|Y	-|-	1|2	0|0	MRPL43|MRPL43	102729062|102729062	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.033000|0.033000	0.12548|0.12548	-4.006000|-4.006000	0.00315|0.00315	-1.641000|-1.641000	0.01523|0.01523	-0.433000|-0.433000	0.05886|0.05886	ATG|TAT		0.502	MRPL43-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049902.1			55	63	55	63
PACSIN3	29763	hgsc.bcm.edu;broad.mit.edu	37	11	47202192	47202192	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:47202192C>T	ENST00000539589.1	-	5	603	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PACSIN3_ENST00000298838.6_Silent_p.A87A	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	87	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GCCGCTCAGCCGCCGTGAAAA	0.677																																																0													22.0	24.0	24.0					11																	47202192		2199	4293	6492	SO:0001819	synonymous_variant	29763			AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.261G>A	11.37:g.47202192C>T			A6NH84|Q9H331|Q9NWV9	Silent	SNP	ENST00000539589.1	37	CCDS31481.1																																																																																				0.677	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		7	79	7	79
DDX51	317781	hgsc.bcm.edu;broad.mit.edu	37	12	132625414	132625414	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr12:132625414C>T	ENST00000397333.3	-	9	1440	c.1402G>A	c.(1402-1404)Ggg>Agg	p.G468R		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	468					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCCGAATCCCCGTCCCCATCT	0.617																																																0													105.0	113.0	110.0					12																	132625414		1936	4124	6060	SO:0001583	missense	317781			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1402G>A	12.37:g.132625414C>T	ENSP00000380495:p.Gly468Arg		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	4.681	0.126550	0.08931	.	.	ENSG00000185163	ENST00000397333	T	0.01902	4.57	4.72	-3.95	0.04118	.	1.714690	0.03274	N	0.185190	T	0.02047	0.0064	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47114	-0.9142	10	0.17369	T	0.5	-12.9339	1.3012	0.02079	0.3239:0.336:0.099:0.2411	.	468	Q8N8A6	DDX51_HUMAN	R	468	ENSP00000380495:G468R	ENSP00000380495:G468R	G	-	1	0	DDX51	131191367	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.187000	0.03067	-0.531000	0.06340	-1.402000	0.01139	GGG		0.617	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		8	131	8	131
ITGAE	3682	hgsc.bcm.edu;broad.mit.edu	37	17	3664729	3664729	+	Missense_Mutation	SNP	C	C	T	rs374525538		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:3664729C>T	ENST00000263087.4	-	5	499	c.401G>A	c.(400-402)cGt>cAt	p.R134H		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	134					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCCTGGGGACGGAGGTCAGG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21453	0.001		0.0	False		,,,				2504	0.0				NSCLC(182;635 2928 8995 38788)											0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	66.0	66.0	66.0		401	-5.3	0.0	17		66	0,8600		0,0,4300	no	missense	ITGAE	NM_002208.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	134/1180	3664729	1,13005	2203	4300	6503	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.401G>A	17.37:g.3664729C>T	ENSP00000263087:p.Arg134His		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329602	0.24167	2.27E-4	0.0	ENSG00000083457	ENST00000263087	D	0.93659	-3.26	3.69	-5.35	0.02697	.	.	.	.	.	D	0.85932	0.5812	L	0.38175	1.15	0.09310	N	1	B	0.21688	0.059	B	0.14023	0.01	T	0.71810	-0.4480	9	0.45353	T	0.12	.	5.9258	0.19112	0.1428:0.2593:0.0:0.5979	.	134	P38570	ITAE_HUMAN	H	134	ENSP00000263087:R134H	ENSP00000263087:R134H	R	-	2	0	ITGAE	3611478	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.864000	0.04254	-1.157000	0.02815	0.407000	0.27541	CGT		0.557	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		8	106	8	106
RNF112	7732	hgsc.bcm.edu;broad.mit.edu	37	17	19316087	19316087	+	Silent	SNP	T	T	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:19316087T>A	ENST00000461366.1	+	3	587	c.372T>A	c.(370-372)ccT>ccA	p.P124P	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	124						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGCTGCCCCCTGCACTGCAGG	0.627																																																0													20.0	24.0	23.0					17																	19316087		1965	4151	6116	SO:0001819	synonymous_variant	7732			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.372T>A	17.37:g.19316087T>A			O60633|Q7Z5V9	Silent	SNP	ENST00000461366.1	37	CCDS58529.1																																																																																				0.627	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		4	44	4	44
CNTD1	124817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	40956252	40956252	+	Silent	SNP	A	A	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956252A>T	ENST00000588408.1	+	3	531	c.255A>T	c.(253-255)gtA>gtT	p.V85V	CNTD1_ENST00000588527.1_Silent_p.V2V	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	85	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGTTTATGGTAAAACAGGCAG	0.438																																																0													72.0	71.0	71.0					17																	40956252		2203	4300	6503	SO:0001819	synonymous_variant	124817			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.255A>T	17.37:g.40956252A>T			Q658Q6|Q8NEP1	Silent	SNP	ENST00000588408.1	37	CCDS11440.1																																																																																				0.438	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		29	36	29	36
CNTD1	124817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	40956254	40956254	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956254A>T	ENST00000588408.1	+	3	533	c.257A>T	c.(256-258)aAa>aTa	p.K86I	CNTD1_ENST00000588527.1_Missense_Mutation_p.K3I	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	86	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTATGGTAAAACAGGCAGAG	0.438																																																0													73.0	71.0	72.0					17																	40956254		2203	4300	6503	SO:0001583	missense	124817			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.257A>T	17.37:g.40956254A>T	ENSP00000465204:p.Lys86Ile		Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031448	0.35797	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.36	5.36	0.76844	Cyclin-like (2);	0.216802	0.46442	D	0.000298	T	0.50905	0.1643	M	0.66939	2.045	0.37965	D	0.933083	P	0.48764	0.915	B	0.39904	0.313	T	0.64084	-0.6490	9	0.66056	D	0.02	-20.9404	13.0873	0.59149	1.0:0.0:0.0:0.0	.	86	Q8N815	CNTD1_HUMAN	I	86	.	ENSP00000316647:K86I	K	+	2	0	CNTD1	38209780	1.000000	0.71417	0.988000	0.46212	0.176000	0.22953	3.047000	0.49854	2.037000	0.60232	0.528000	0.53228	AAA		0.438	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		28	37	28	37
CARD14	79092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	78169012	78169012	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:78169012G>A	ENST00000573882.1	+	12	1915	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.S223N|CARD14_ENST00000570421.1_Missense_Mutation_p.S460N|CARD14_ENST00000344227.2_Missense_Mutation_p.S460N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	460					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGGACCTGAGTGCCACGTCC	0.677																																																0													41.0	40.0	40.0					17																	78169012		2203	4300	6503	SO:0001583	missense	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1379G>A	17.37:g.78169012G>A	ENSP00000458715:p.Ser460Asn		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	G	5.751	0.322984	0.10900	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.37411	1.2;1.2	4.59	3.26	0.37387	.	0.894418	0.09648	N	0.774039	T	0.26991	0.0661	L	0.33485	1.01	0.32027	N	0.600055	B;B;B	0.14438	0.002;0.01;0.0	B;B;B	0.15484	0.002;0.013;0.002	T	0.29366	-1.0014	10	0.25751	T	0.34	-3.6864	8.0388	0.30508	0.1593:0.0:0.8407:0.0	.	460;223;460	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	N	460;223;223	ENSP00000344549:S460N;ENSP00000376229:S223N	ENSP00000308507:S223N	S	+	2	0	CARD14	75783607	0.084000	0.21492	0.414000	0.26521	0.014000	0.08584	0.080000	0.14802	0.782000	0.33613	0.655000	0.94253	AGT		0.677	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			16	66	16	66
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	186056428	186056428	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:186056428C>T	ENST00000271588.4	+	59	9355	c.9126C>T	c.(9124-9126)ggC>ggT	p.G3042G	HMCN1_ENST00000367492.2_Silent_p.G3042G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3042	Ig-like C2-type 28.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAAGCTGGCGAAAGCAAGA	0.348																																																0													147.0	143.0	144.0					1																	186056428		2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9126C>T	1.37:g.186056428C>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		42	44	42	44
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	216062131	216062131	+	Silent	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:216062131G>A	ENST00000307340.3	-	41	8246	c.7860C>T	c.(7858-7860)ctC>ctT	p.L2620L	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Silent_p.L2620L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2620	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCCCCTGGGAGTGTCCATA	0.502										HNSCC(13;0.011)																																						0													82.0	81.0	81.0					1																	216062131		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7860C>T	1.37:g.216062131G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		21	47	21	47
CTNNBL1	56259	hgsc.bcm.edu;broad.mit.edu	37	20	36431347	36431347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr20:36431347C>A	ENST00000361383.6	+	11	1227	c.1110C>A	c.(1108-1110)tgC>tgA	p.C370*	CTNNBL1_ENST00000373473.1_Nonsense_Mutation_p.C183*|CTNNBL1_ENST00000373469.1_Nonsense_Mutation_p.C118*|CTNNBL1_ENST00000405275.2_Nonsense_Mutation_p.C343*|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	370					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGACAACTGCCATAAGTTTG	0.478																																					Ovarian(184;582 2038 3273 4106 42608)											0													134.0	122.0	126.0					20																	36431347		2203	4300	6503	SO:0001587	stop_gained	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1110C>A	20.37:g.36431347C>A	ENSP00000355050:p.Cys370*		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Nonsense_Mutation	SNP	ENST00000361383.6	37	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	C	38	6.977638	0.97975	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	.	.	.	5.52	1.48	0.22813	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7802	9.554	0.39328	0.0:0.5901:0.0:0.4099	.	.	.	.	X	370;343;183;118	.	ENSP00000355050:C370X	C	+	3	2	CTNNBL1	35864761	0.105000	0.21958	0.995000	0.50966	0.964000	0.63967	-0.418000	0.07080	0.049000	0.15920	-0.379000	0.06801	TGC		0.478	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		5	85	5	85
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	46	32	46
ALPPL2	251	hgsc.bcm.edu;broad.mit.edu	37	2	233274354	233274354	+	Silent	SNP	G	G	A	rs374332709		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:233274354G>A	ENST00000295453.3	+	11	1423	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	457					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	AGGACGTGGCGGTGTTCGCGC	0.667													g|||	1	0.000199681	0.0	0.0014	5008	,	,		11887	0.0		0.0	False		,,,				2504	0.0															0								G		1,4395	2.1+/-5.4	0,1,2197	24.0	27.0	26.0		1371	-3.8	1.0	2		26	0,8600		0,0,4300	no	coding-synonymous	ALPPL2	NM_031313.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		457/533	233274354	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	251			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1371G>A	2.37:g.233274354G>A			A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	CCDS2491.1																																																																																				0.667	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		15	18	15	18
CELSR3	1951	hgsc.bcm.edu;broad.mit.edu	37	3	48699299	48699299	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:48699299C>T	ENST00000164024.4	-	1	1049	c.769G>A	c.(769-771)Gca>Aca	p.A257T	CELSR3_ENST00000544264.1_Missense_Mutation_p.A257T|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	257					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAACCTGATGCAGGAGCTGTC	0.701																																																0													26.0	33.0	31.0					3																	48699299		2196	4282	6478	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.769G>A	3.37:g.48699299C>T	ENSP00000164024:p.Ala257Thr		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984484	0.02180	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70045	-0.45;-0.42	5.2	-4.72	0.03269	.	.	.	.	.	T	0.37210	0.0995	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16188	-1.0411	9	0.22109	T	0.4	.	5.8875	0.18890	0.1133:0.5622:0.224:0.1004	.	257;327	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	257	ENSP00000164024:A257T;ENSP00000445694:A257T	ENSP00000164024:A257T	A	-	1	0	CELSR3	48674303	0.003000	0.15002	0.000000	0.03702	0.020000	0.10135	0.391000	0.20784	-1.171000	0.02765	-0.982000	0.02568	GCA		0.701	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		10	111	10	111
VPS8	23355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T	rs200270246	byFrequency	TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:184714255C>T	ENST00000437079.3	+	44	3973	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_ENST00000287546.4_Missense_Mutation_p.R1268C|VPS8_ENST00000436792.2_Missense_Mutation_p.R1266C|VPS8_ENST00000446204.2_Missense_Mutation_p.R1176C	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1268							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTACAAGAGACGCCAAGAAAT	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		22533	0.0		0.0	False		,,,				2504	0.001															0								C	CYS/ARG,CYS/ARG	0,3814		0,0,1907	81.0	79.0	79.0		3802,3796	6.0	1.0	3		79	1,8249		0,1,4124	yes	missense,missense	VPS8	NM_001009921.2,NM_015303.3	180,180	0,1,6031	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging	1268/1429,1266/1427	184714255	1,12063	1907	4125	6032	SO:0001583	missense	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3802C>T	3.37:g.184714255C>T	ENSP00000397879:p.Arg1268Cys		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232170	0.79688	0.0	1.21E-4	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	6.03	6.03	0.97812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.091135	0.64402	D	0.000001	T	0.76162	0.3949	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	P;D;D	0.64410	0.844;0.922;0.925	T	0.76022	-0.3111	10	0.54805	T	0.06	-11.6005	13.4353	0.61079	0.2565:0.7435:0.0:0.0	.	1268;1176;1266	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	C	1268;1268;1266;1176	ENSP00000287546:R1268C;ENSP00000397879:R1268C;ENSP00000404704:R1266C;ENSP00000405483:R1176C	ENSP00000287546:R1268C	R	+	1	0	VPS8	186196949	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.826000	0.48104	2.854000	0.98071	0.655000	0.94253	CGC		0.413	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		9	47	9	47
TBC1D19	55296	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	26640408	26640408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:26640408C>T	ENST00000264866.4	+	6	663	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	AC093807.1_ENST00000580172.1_RNA|TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Nonsense_Mutation_p.Q64*	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	129							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AGTTGGAGAACAGAAAGAACT	0.308																																																0													81.0	84.0	83.0					4																	26640408		2203	4296	6499	SO:0001587	stop_gained	55296			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.385C>T	4.37:g.26640408C>T	ENSP00000264866:p.Gln129*		B9A6M0|Q9NUX1	Nonsense_Mutation	SNP	ENST00000264866.4	37	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	C	36	5.773496	0.96922	.	.	ENSG00000109680	ENST00000512840;ENST00000264866;ENST00000505206;ENST00000511789;ENST00000513596	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-8.2823	18.175	0.89759	0.0:1.0:0.0:0.0	.	.	.	.	X	98;129;64;64;97	.	ENSP00000264866:Q129X	Q	+	1	0	TBC1D19	26249506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.184000	0.72008	2.657000	0.90304	0.655000	0.94253	CAG		0.308	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		26	38	26	38
ENPEP	2028	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	111397908	111397908	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:111397908A>G	ENST00000265162.5	+	1	680	c.338A>G	c.(337-339)gAc>gGc	p.D113G		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	113					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTGGAGGAGGACACCTACACG	0.622																																																0													98.0	102.0	101.0					4																	111397908		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.338A>G	4.37:g.111397908A>G	ENSP00000265162:p.Asp113Gly		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	8.278	0.814834	0.16607	.	.	ENSG00000138792	ENST00000265162	T	0.02709	4.19	5.83	5.83	0.93111	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.217273	0.45361	D	0.000378	T	0.08403	0.0209	L	0.28776	0.89	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.53012	-0.8498	10	0.24483	T	0.36	.	16.1922	0.82000	1.0:0.0:0.0:0.0	.	113	Q07075	AMPE_HUMAN	G	113	ENSP00000265162:D113G	ENSP00000265162:D113G	D	+	2	0	ENPEP	111617357	1.000000	0.71417	0.993000	0.49108	0.009000	0.06853	8.885000	0.92439	2.226000	0.72624	0.459000	0.35465	GAC		0.622	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			25	191	25	191
NPY2R	4887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	156135956	156135956	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:156135956C>T	ENST00000329476.3	+	2	1354	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	NPY2R_ENST00000506608.1_Missense_Mutation_p.L289F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	289					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TGCCTTCCAGCTTGCCGTTGA	0.517																																																0													97.0	82.0	87.0					4																	156135956		2203	4300	6503	SO:0001583	missense	4887			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.865C>T	4.37:g.156135956C>T	ENSP00000332591:p.Leu289Phe		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070171	0.55539	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.70986	-0.53;-0.53	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84704	0.0730	10	0.72032	D	0.01	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	289	P49146	NPY2R_HUMAN	F	289	ENSP00000332591:L289F;ENSP00000426366:L289F	ENSP00000332591:L289F	L	+	1	0	NPY2R	156355406	1.000000	0.71417	0.938000	0.37757	0.500000	0.33767	3.291000	0.51764	2.819000	0.97034	0.643000	0.83706	CTT		0.517	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		11	40	11	40
ADAM28	10863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	24193003	24193003	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:24193003C>T	ENST00000265769.4	+	14	1526	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Silent_p.C472C|ADAM28_ENST00000397649.3_Silent_p.C219C|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Silent_p.C239C	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	472	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATGAGTGCGACCTGCCTG	0.433																																					NSCLC(193;488 2149 22258 34798 40734)											0													139.0	129.0	133.0					8																	24193003		2203	4300	6503	SO:0001819	synonymous_variant	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1416C>T	8.37:g.24193003C>T			B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	8.600	0.886724	0.17540	.	.	ENSG00000042980	ENST00000521629	.	.	.	5.8	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0668	0.30665	0.0:0.2379:0.0:0.7621	.	.	.	.	X	105	.	.	R	+	1	2	ADAM28	24248948	0.994000	0.37717	1.000000	0.80357	0.969000	0.65631	0.148000	0.16224	0.465000	0.27167	-1.027000	0.02421	CGA		0.433	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		8	35	8	35
ANGPT1	284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	108306212	108306212	+	Silent	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:108306212A>G	ENST00000520734.1	-	5	675	c.390T>C	c.(388-390)cgT>cgC	p.R130R	ANGPT1_ENST00000520052.1_Silent_p.R129R|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	330					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCCATCTTCACGATGTTGTA	0.343																																																0													145.0	138.0	140.0					8																	108306212		2203	4300	6503	SO:0001819	synonymous_variant	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.390T>C	8.37:g.108306212A>G			Q5HYA0	Silent	SNP	ENST00000520734.1	37																																																																																					0.343	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		18	82	18	82
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	144940776	144940776	+	Missense_Mutation	SNP	C	C	T	rs371383984		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:144940776C>T	ENST00000525985.1	-	2	6717	c.6646G>A	c.(6646-6648)Gtc>Atc	p.V2216I				P58107	EPIPL_HUMAN	epiplakin 1	2216						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGCGCTTGACGCGGTCGTCC	0.627																																																0													125.0	132.0	130.0					8																	144940776		2122	4210	6332	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6646G>A	8.37:g.144940776C>T	ENSP00000436337:p.Val2216Ile		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	6.182	0.401710	0.11696	.	.	ENSG00000227184	ENST00000525985	T	0.68181	-0.31	4.67	1.84	0.25277	.	.	.	.	.	T	0.53029	0.1771	L	0.38175	1.15	0.20638	N	0.999879	B	0.17667	0.023	B	0.12156	0.007	T	0.39121	-0.9629	9	0.37606	T	0.19	.	7.8362	0.29371	0.1332:0.7057:0.0:0.1612	.	2216	E9PPU0	.	I	2216	ENSP00000436337:V2216I	ENSP00000436337:V2216I	V	-	1	0	EPPK1	145012764	0.006000	0.16342	0.028000	0.17463	0.095000	0.18619	0.445000	0.21677	-0.027000	0.13873	-1.094000	0.02160	GTC		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		41	211	41	211
NPR2	4882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	35811425	35811425	+	IGR	SNP	G	G	A	rs386352365		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:35811425G>A	ENST00000342694.2	+	0	3686				HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000396638.2_Silent_p.D206D|SPAG8_ENST00000340291.2_Silent_p.D206D|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_Silent_p.D204D	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGAGCTCAGAGTCAGGGCCAG	0.627																																																0													63.0	71.0	69.0					9																	35811425		2203	4300	6503	SO:0001628	intergenic_variant	26206			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811425G>A			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	4.253	0.045898	0.08196	.	.	ENSG00000137098	ENST00000497810	.	.	.	4.08	-0.398	0.12418	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	T	0.22521	-1.0214	4	.	.	.	0.2763	0.7765	0.01033	0.2241:0.1876:0.3961:0.1922	.	.	.	.	I	204	.	.	T	-	2	0	SPAG8	35801425	0.002000	0.14202	0.001000	0.08648	0.033000	0.12548	-0.181000	0.09740	0.109000	0.17891	0.655000	0.94253	ACT		0.627	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			32	140	32	140
AKAP2	11217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	112898643	112898643	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:112898643C>T	ENST00000259318.7	+	2	333	c.126C>T	c.(124-126)caC>caT	p.H42H	AKAP2_ENST00000510514.5_Silent_p.H273H|PALM2-AKAP2_ENST00000302798.7_Silent_p.H273H|AKAP2_ENST00000374525.1_Silent_p.H131H|AKAP2_ENST00000434623.2_Silent_p.H131H|PALM2-AKAP2_ENST00000374530.3_Silent_p.H273H|AKAP2_ENST00000555236.1_Silent_p.H273H	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	42										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTGATCACCACGAATCCCTGG	0.493																																																0													180.0	157.0	165.0					9																	112898643		2203	4300	6503	SO:0001819	synonymous_variant	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.126C>T	9.37:g.112898643C>T			B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	CCDS48003.1																																																																																				0.493	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		92	108	92	108
DOCK11	139818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	117695460	117695460	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chrX:117695460G>A	ENST00000276202.7	+	7	736	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	DOCK11_ENST00000276204.6_Missense_Mutation_p.A225T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	225	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTACTTGGACGCCTGCATTGA	0.378																																																0													111.0	100.0	103.0					X																	117695460		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.673G>A	X.37:g.117695460G>A	ENSP00000276202:p.Ala225Thr		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	g	16.89	3.246065	0.59103	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.75050	-0.9;-0.9	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.112981	0.64402	D	0.000009	T	0.64800	0.2631	N	0.22421	0.69	0.45946	D	0.998774	P	0.52692	0.955	P	0.47786	0.557	T	0.61317	-0.7087	10	0.19590	T	0.45	-3.0982	11.9397	0.52894	0.0:0.0:0.7017:0.2983	.	225	Q5JSL3	DOC11_HUMAN	T	225	ENSP00000276204:A225T;ENSP00000276202:A225T	ENSP00000276202:A225T	A	+	1	0	DOCK11	117579488	1.000000	0.71417	0.960000	0.40013	0.930000	0.56654	4.574000	0.60900	2.405000	0.81733	0.417000	0.27973	GCC		0.378	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		19	35	19	35
ZFPL1	7542	broad.mit.edu;ucsc.edu	37	11	64855533	64855533	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:64855533G>A	ENST00000294258.3	+	8	1032	c.880G>A	c.(880-882)Gat>Aat	p.D294N	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	294					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AGCTGACAGCGATCCCAACCT	0.662																																																0													89.0	88.0	88.0					11																	64855533		2201	4297	6498	SO:0001583	missense	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.880G>A	11.37:g.64855533G>A	ENSP00000294258:p.Asp294Asn		A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821999	0.90873	.	.	ENSG00000162300	ENST00000294258	T	0.60171	0.21	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	L	0.42744	1.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72033	-0.4412	10	0.87932	D	0	-9.8896	15.8855	0.79244	0.0:0.0:1.0:0.0	.	294	O95159	ZFPL1_HUMAN	N	294	ENSP00000294258:D294N	ENSP00000294258:D294N	D	+	1	0	ZFPL1	64612109	1.000000	0.71417	0.990000	0.47175	0.899000	0.52679	9.059000	0.93902	2.610000	0.88304	0.655000	0.94253	GAT		0.662	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		21	171	21	171
MGARP	84709	broad.mit.edu;ucsc.edu	37	4	140187905	140187905	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:140187905C>T	ENST00000398955.1	-	4	750	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	191					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											TTATCATTATCGATGGTGACA	0.468																																																0													277.0	255.0	262.0					4																	140187905		1928	4144	6072	SO:0001583	missense	84709			AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"""ovary-specific acidic protein"", ""corneal endothelium-specific protein 1"", ""hypoxia up-regulated mitochondrial movement regulator"""		"""chromosome 4 open reading frame 49"""	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.571G>A	4.37:g.140187905C>T	ENSP00000381928:p.Asp191Asn		Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	CCDS43269.1	.	.	.	.	.	.	.	.	.	.	C	0.580	-0.837658	0.02692	.	.	ENSG00000137463	ENST00000398955	T	0.45668	0.89	3.53	-4.39	0.03611	.	1.382810	0.04462	N	0.374590	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.29243	-1.0018	10	0.02654	T	1	-16.2608	6.1209	0.20151	0.0:0.5169:0.1694:0.3137	.	191	Q8TDB4	CD049_HUMAN	N	191	ENSP00000381928:D191N	ENSP00000381928:D191N	D	-	1	0	C4orf49	140407355	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-1.930000	0.01557	-0.857000	0.04115	0.467000	0.42956	GAT		0.468	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		44	182	44	182
CLCA1	1179	broad.mit.edu;ucsc.edu	37	1	86957002	86957002	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:86957002C>T	ENST00000234701.3	+	10	1763	c.1412C>T	c.(1411-1413)gCt>gTt	p.A471V	CLCA1_ENST00000394711.1_Missense_Mutation_p.A471V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	471	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCATTGATGCTTTTGGGGCC	0.383																																																0													125.0	123.0	124.0					1																	86957002		2203	4300	6503	SO:0001583	missense	1179				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1412C>T	1.37:g.86957002C>T	ENSP00000234701:p.Ala471Val		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776972	0.90195	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.04049	3.72;3.72	5.92	5.92	0.95590	von Willebrand factor, type A (2);	0.123576	0.53938	D	0.000045	T	0.20170	0.0485	M	0.85099	2.735	0.41590	D	0.988796	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00579	-1.1661	10	0.62326	D	0.03	-16.3444	19.0921	0.93231	0.0:1.0:0.0:0.0	.	471;234	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	V	471;471;184	ENSP00000234701:A471V;ENSP00000378200:A471V	ENSP00000234701:A471V	A	+	2	0	CLCA1	86729590	1.000000	0.71417	0.989000	0.46669	0.886000	0.51366	4.708000	0.61859	2.809000	0.96659	0.655000	0.94253	GCT		0.383	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		6	44	6	44
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu	37	8	77616608	77616608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:77616608delC	ENST00000521891.2	+	2	733	c.285delC	c.(283-285)tacfs	p.Y95fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.Y95fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACAGAAATACATGGAACACC	0.498										HNSCC(33;0.089)																																						0													188.0	184.0	185.0					8																	77616608		2064	4194	6258	SO:0001589	frameshift_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.285delC	8.37:g.77616608delC	ENSP00000430497:p.Tyr95fs		G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	CCDS47878.2																																																																																				0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		94	163	94	163
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7577576	7577582	+	Frame_Shift_Del	DEL	GTTGTAG	GTTGTAG	-	rs144340710|rs587780073		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:7577576_7577582delGTTGTAG	ENST00000269305.4	-	7	888_894	c.699_705delCTACAAC	c.(697-705)cactacaacfs	p.HYN233fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Del_p.HYN233fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	233	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234H(20)|p.Y234N(14)|p.N235S(14)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.N235D(7)|p.Y234D(6)|p.?(5)|p.N235I(4)|p.Y234*(4)|p.Y234del(3)|p.N235T(3)|p.N235fs*5(2)|p.N235Y(2)|p.H233Q(2)|p.N235fs*12(2)|p.Y141S(2)|p.C229_H233delCTTIH(2)|p.H233fs*6(2)|p.N235del(2)|p.N235fs*6(1)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.T230_Y234delTTIHY(1)|p.Y141N(1)|p.Y234Y(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232fs*5(1)|p.Y141H(1)|p.I232_Y236delIHYNY(1)|p.Y141D(1)|p.N235>XX(1)|p.N235M(1)|p.Y234R(1)|p.N235H(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)|p.Y234_N235insX(1)|p.H233del(1)|p.Y236fs*5(1)|p.Y234fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TACACATGTAGTTGTAGTGGATGGTGG	0.57		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	240	Substitution - Missense(192)|Deletion - In frame(12)|Deletion - Frameshift(10)|Whole gene deletion(8)|Insertion - Frameshift(6)|Unknown(5)|Substitution - Nonsense(4)|Insertion - In frame(1)|Complex - insertion inframe(1)|Substitution - coding silent(1)	lung(35)|haematopoietic_and_lymphoid_tissue(29)|breast(23)|ovary(18)|large_intestine(17)|skin(16)|central_nervous_system(15)|oesophagus(14)|urinary_tract(14)|upper_aerodigestive_tract(11)|stomach(9)|biliary_tract(8)|prostate(8)|kidney(5)|bone(4)|liver(4)|cervix(3)|endometrium(2)|vulva(1)|eye(1)|soft_tissue(1)|adrenal_gland(1)|thymus(1)	GRCh37	CM035576|CM941331|CM951230	TP53	M	rs144340710																																			SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.699_705delCTACAAC	17.37:g.7577576_7577582delGTTGTAG	ENSP00000269305:p.His233fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.570	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		51	10	51	10
