#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
INTS4	92105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	77639508	77639508	+	Silent	SNP	A	A	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:77639508A>T	ENST00000534064.1	-	11	1285	c.1251T>A	c.(1249-1251)gtT>gtA	p.V417V	INTS4_ENST00000529807.1_Silent_p.V417V|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	417					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGAACATGTCAACTAGGAAAT	0.443																																																0													37.0	34.0	35.0					11																	77639508		2199	4289	6488	SO:0001819	synonymous_variant	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1251T>A	11.37:g.77639508A>T			Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	ENST00000534064.1	37	CCDS31644.1																																																																																				0.443	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		47	24	47	24
MAML2	84441	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	95712904	95712904	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:95712904C>G	ENST00000524717.1	-	5	3963	c.2679G>C	c.(2677-2679)caG>caC	p.Q893H		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	893					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTGGGTTTCTCTGTTGGGTCA	0.408			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													226.0	209.0	214.0					11																	95712904		1910	4119	6029	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2679G>C	11.37:g.95712904C>G	ENSP00000434552:p.Gln893His		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	8.056	0.767144	0.15983	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51574	0.7;0.7	4.94	-1.2	0.09554	.	0.179096	0.38548	N	0.001656	T	0.22126	0.0533	N	0.19112	0.55	0.35768	D	0.820707	B	0.22683	0.073	B	0.19946	0.027	T	0.27502	-1.0072	10	0.06891	T	0.86	-1.1002	6.4023	0.21646	0.0:0.2675:0.3834:0.3491	.	893	Q8IZL2	MAML2_HUMAN	H	893	ENSP00000434552:Q893H;ENSP00000412394:Q893H	ENSP00000412394:Q893H	Q	-	3	2	MAML2	95352552	0.998000	0.40836	0.993000	0.49108	0.923000	0.55619	0.485000	0.22324	-0.006000	0.14370	0.555000	0.69702	CAG		0.408	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			114	97	114	97
ATN1	1822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	7046127	7046127	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:7046127C>T	ENST00000356654.4	+	5	1934	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L	ATN1_ENST00000396684.2_Missense_Mutation_p.P566L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	566	Involved in binding BAIAP2.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCCAATGGCCCTCCAGTCTCT	0.637																																																0													141.0	117.0	125.0					12																	7046127		2203	4300	6503	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1697C>T	12.37:g.7046127C>T	ENSP00000349076:p.Pro566Leu		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	11.84	1.758256	0.31137	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.54675	0.56;0.56;0.56	3.46	3.46	0.39613	.	0.582869	0.12975	U	0.423749	T	0.42154	0.1190	N	0.22421	0.69	0.43238	D	0.995149	B	0.30851	0.297	B	0.32342	0.144	T	0.43015	-0.9417	10	0.45353	T	0.12	.	15.5085	0.75760	0.0:1.0:0.0:0.0	.	566	P54259	ATN1_HUMAN	L	566;566;566;151	ENSP00000349076:P566L;ENSP00000379915:P566L;ENSP00000441744:P566L	ENSP00000229279:P151L	P	+	2	0	ATN1	6916388	0.033000	0.19621	0.099000	0.21106	0.006000	0.05464	2.785000	0.47782	1.933000	0.56026	0.586000	0.80456	CCT		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		17	216	17	216
SPTBN5	51332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	42172441	42172441	+	Silent	SNP	A	A	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:42172441A>G	ENST00000320955.6	-	14	2955	c.2728T>C	c.(2728-2730)Ttg>Ctg	p.L910L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	910					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCAGCCACAACTGGAGCTCC	0.632																																																0													19.0	27.0	25.0					15																	42172441		1958	4148	6106	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2728T>C	15.37:g.42172441A>G				Silent	SNP	ENST00000320955.6	37																																																																																					0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		8	18	8	18
ACAN	176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	89398499	89398499	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:89398499C>T	ENST00000561243.1	+	11	2683	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	ACAN_ENST00000439576.2_Missense_Mutation_p.P895S|ACAN_ENST00000559004.1_Missense_Mutation_p.P895S|ACAN_ENST00000352105.7_Missense_Mutation_p.P895S			P16112	PGCA_HUMAN	aggrecan	894	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AAGTGGACTGCCCTCTGGAGA	0.572																																																0													52.0	60.0	57.0					15																	89398499		2026	4179	6205	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2683C>T	15.37:g.89398499C>T	ENSP00000453342:p.Pro895Ser		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698861	0.68501	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.16597	2.64;2.33	5.39	5.39	0.77823	.	0.000000	0.32343	N	0.006224	T	0.44603	0.1301	M	0.74258	2.255	0.46028	D	0.998825	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.34254	-0.9836	10	0.54805	T	0.06	-20.4356	18.1523	0.89678	0.0:1.0:0.0:0.0	.	895;895	E7ENV9;E7EX88	.;.	S	895	ENSP00000387356:P895S;ENSP00000341615:P895S	ENSP00000268134:P895S	P	+	1	0	ACAN	87199503	0.921000	0.31238	0.973000	0.42090	0.592000	0.36648	2.267000	0.43329	2.523000	0.85059	0.561000	0.74099	CCC		0.572	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		40	58	40	58
SLX4	84464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	3640690	3640690	+	Silent	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:3640690G>A	ENST00000294008.3	-	12	3589	c.2949C>T	c.(2947-2949)taC>taT	p.Y983Y		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	983	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGAGCTGTTCGTAATCCCCGG	0.572								Direct reversal of damage																																								0													82.0	82.0	82.0					16																	3640690		2197	4300	6497	SO:0001819	synonymous_variant	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2949C>T	16.37:g.3640690G>A			Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.572	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		130	123	130	123
ABCC12	94160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	48174762	48174762	+	Silent	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:48174762G>A	ENST00000311303.3	-	4	838	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	ABCC12_ENST00000448542.1_Silent_p.L165L|ABCC12_ENST00000416054.1_Silent_p.L165L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	165	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTATGCACAGTCCAATGCCA	0.537																																																0													100.0	98.0	99.0					16																	48174762		2201	4300	6501	SO:0001819	synonymous_variant	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.493C>T	16.37:g.48174762G>A			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	CCDS10730.1																																																																																				0.537	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		79	105	79	105
TP53	7157	hgsc.bcm.edu;broad.mit.edu	37	17	7574035	7574035	+	Splice_Site	SNP	T	T	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574035T>G	ENST00000269305.4	-	10	1183		c.e10-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site	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						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.?(10)|p.0?(8)|p.I332fs*49(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)	CCCACGGATCTGCAGCAACAG	0.507		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"""	19	Unknown(10)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|liver(2)|stomach(1)|breast(1)											44.0	36.0	38.0					17																	7574035		2203	4300	6503	SO:0001630	splice_region_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.994-2A>C	17.37:g.7574035T>G			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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904238	0.33628	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1784	0.59641	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514760	1.000000	0.71417	0.937000	0.37676	0.131000	0.20780	6.590000	0.74085	2.061000	0.61500	0.459000	0.35465	.		0.507	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	15	33	15	33
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7577572T>C	ENST00000269305.4	-	7	898	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000420246.2_Missense_Mutation_p.M237V	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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)	CTGTTACACATGTAGTTGTAG	0.572		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"""	36	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|ovary(2)|cervix(1)|stomach(1)|large_intestine(1)|lung(1)|pancreas(1)											128.0	101.0	110.0					17																	7577572		2203	4300	6503	SO:0001583	missense	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.709A>G	17.37:g.7577572T>C	ENSP00000269305:p.Met237Val		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	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111049	0.77210	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	M	0.64997	1.995	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	0.999;0.989;1.0;0.999;0.997;0.999	D;P;D;D;D;D	0.91635	0.997;0.749;0.999;0.999;0.997;0.997	D	0.97551	1.0092	10	0.87932	D	0	-32.6033	11.6823	0.51466	0.0:0.0:0.0:1.0	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237V;ENSP00000352610:M237V;ENSP00000269305:M237V;ENSP00000398846:M237V;ENSP00000391127:M237V;ENSP00000391478:M237V;ENSP00000425104:M105V;ENSP00000423862:M144V	ENSP00000269305:M237V	M	-	1	0	TP53	7518297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	77	45	77
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	29556166	29556166	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:29556166T>C	ENST00000358273.4	+	21	2916	c.2533T>C	c.(2533-2535)Tgt>Cgt	p.C845R	NF1_ENST00000356175.3_Missense_Mutation_p.C845R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	845					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.?(4)	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)		TGGCTTCCTTTGTGCCCTTGG	0.512			"""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	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											34.0	32.0	32.0					17																	29556166		2203	4297	6500	SO:0001583	missense	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.2533T>C	17.37:g.29556166T>C	ENSP00000351015:p.Cys845Arg		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	16.41	3.116358	0.56505	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.12039	2.91;3.04;2.72	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	M	0.73962	2.25	0.80722	D	1	P;P;P	0.52577	0.954;0.571;0.549	P;B;B	0.53224	0.721;0.16;0.284	T	0.05468	-1.0883	10	0.87932	D	0	.	15.7546	0.78013	0.0:0.0:0.0:1.0	.	845;845;845	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	R	845;845;511	ENSP00000351015:C845R;ENSP00000348498:C845R;ENSP00000389907:C511R	ENSP00000348498:C845R	C	+	1	0	NF1	26580292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	2.127000	0.65507	0.454000	0.30748	TGT		0.512	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		101	12	101	12
CCDC40	55036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	78032380	78032380	+	Missense_Mutation	SNP	G	G	A	rs199666629		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:78032380G>A	ENST00000397545.4	+	8	1274	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	CCDC40_ENST00000374876.4_Missense_Mutation_p.R416H|CCDC40_ENST00000269318.5_Missense_Mutation_p.R416H|CCDC40_ENST00000374877.3_Missense_Mutation_p.R416H	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	416					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACGACATCCGCGTGATGACA	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21026	0.0		0.0	False		,,,				2504	0.0															0													68.0	71.0	70.0					17																	78032380		2106	4227	6333	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1247G>A	17.37:g.78032380G>A	ENSP00000380679:p.Arg416His		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.101	0.574115	0.13623	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.46451	0.9;1.96;0.87;0.91	4.5	-3.66	0.04489	.	.	.	.	.	T	0.23926	0.0579	L	0.29908	0.895	0.09310	N	1	D;P;P	0.56521	0.976;0.921;0.952	B;B;P	0.44860	0.364;0.272;0.462	T	0.11941	-1.0567	9	0.32370	T	0.25	-0.0019	0.1826	0.00125	0.3244:0.1823:0.1586:0.3347	.	416;416;199	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	H	416	ENSP00000364011:R416H;ENSP00000269318:R416H;ENSP00000364010:R416H;ENSP00000380679:R416H	ENSP00000269318:R416H	R	+	2	0	CCDC40	75646975	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.721000	0.04963	-0.643000	0.05473	0.313000	0.20887	CGC		0.537	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		120	12	120	12
PLIN4	729359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	4511095	4511095	+	Silent	SNP	G	G	A	rs369051267		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:4511095G>A	ENST00000301286.3	-	3	2834	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	945	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CATCCTTAGCGCCACTCAGCA	0.592																																																0								G		1,4377		0,1,2188	50.0	54.0	53.0		2835	-2.3	0.1	19		53	0,8536		0,0,4268	no	coding-synonymous	PLIN4	NM_001080400.1		0,1,6456	AA,AG,GG		0.0,0.0228,0.0077		945/1358	4511095	1,12913	2189	4268	6457	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2835C>T	19.37:g.4511095G>A			A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		34	83	34	83
NOTCH3	4854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	15281250	15281250	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:15281250C>T	ENST00000263388.2	-	27	5081	c.5006G>A	c.(5005-5007)cGc>cAc	p.R1669H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1669					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCTGTGCTCGCGCTTGCGCCG	0.677																																																0													39.0	44.0	43.0					19																	15281250		2203	4299	6502	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5006G>A	19.37:g.15281250C>T	ENSP00000263388:p.Arg1669His		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264649	0.95399	.	.	ENSG00000074181	ENST00000263388	D	0.85258	-1.96	3.69	3.69	0.42338	.	.	.	.	.	D	0.82930	0.5144	M	0.78223	2.4	0.58432	D	0.999998	P	0.41008	0.735	B	0.32149	0.141	D	0.86187	0.1610	9	0.59425	D	0.04	.	14.3463	0.66665	0.0:1.0:0.0:0.0	.	1669	Q9UM47	NOTC3_HUMAN	H	1669	ENSP00000263388:R1669H	ENSP00000263388:R1669H	R	-	2	0	NOTCH3	15142250	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	7.483000	0.81158	1.906000	0.55180	0.491000	0.48974	CGC		0.677	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		45	65	45	65
SLC7A9	11136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	33350866	33350866	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:33350866G>T	ENST00000023064.4	-	8	945	c.754C>A	c.(754-756)Ctg>Atg	p.L252M	SLC7A9_ENST00000587772.1_Missense_Mutation_p.L252M|SLC7A9_ENST00000590341.1_Missense_Mutation_p.L252M|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	252					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCAAAGGCAGGTTTCTGGGA	0.602																																					GBM(181;1335 2108 9644 44178 46689)											0													91.0	74.0	80.0					19																	33350866		2203	4300	6503	SO:0001583	missense	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.754C>A	19.37:g.33350866G>T	ENSP00000023064:p.Leu252Met		B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878812	0.51801	.	.	ENSG00000021488	ENST00000023064	D	0.90900	-2.75	5.64	4.41	0.53225	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.87328	2.875	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	D	0.95722	0.8767	10	0.62326	D	0.03	.	15.4692	0.75429	0.0776:0.0:0.9224:0.0	.	252;252	Q53FY4;P82251	.;BAT1_HUMAN	M	252	ENSP00000023064:L252M	ENSP00000023064:L252M	L	-	1	2	SLC7A9	38042706	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	3.079000	0.50104	2.675000	0.91044	0.462000	0.41574	CTG		0.602	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			21	80	21	80
LPHN2	23266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	82456736	82456736	+	Silent	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:82456736T>C	ENST00000370728.1	+	25	4932	c.4287T>C	c.(4285-4287)aaT>aaC	p.N1429N	LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370730.1_Silent_p.N1386N|LPHN2_ENST00000271029.4_Silent_p.N1401N|LPHN2_ENST00000359929.3_Silent_p.N1373N|LPHN2_ENST00000370727.1_Silent_p.N1401N|LPHN2_ENST00000370721.1_Silent_p.N1354N|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000394879.1_Silent_p.N1431N|LPHN2_ENST00000335786.5_Silent_p.N1386N|LPHN2_ENST00000370725.1_Silent_p.N1444N|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Silent_p.N1431N|LPHN2_ENST00000319517.6_Silent_p.N1373N|LPHN2_ENST00000370717.2_Silent_p.N1444N			O95490	LPHN2_HUMAN	latrophilin 2	1429					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		gcaggggcaatagtgatggtt	0.428																																																0													35.0	35.0	35.0					1																	82456736		2203	4300	6503	SO:0001819	synonymous_variant	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4287T>C	1.37:g.82456736T>C			A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.588|1.588	-0.529875|-0.529875	0.04112|0.04112	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000402328	.|.	.|.	.|.	5.52|5.52	-1.6|-1.6	0.08426|0.08426	.|.	.|.	.|.	.|.	.|.	T|.	0.44201|.	0.1282|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50004|.	-0.8878|.	4|.	.|.	.|.	.|.	.|.	11.4472|11.4472	0.50131|0.50131	0.0:0.3716:0.0:0.6284|0.0:0.3716:0.0:0.6284	.|.	.|.	.|.	.|.	T|Q	1321|441	.|.	.|.	I|X	+|+	2|1	0|0	LPHN2|LPHN2	82229324|82229324	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.954000|0.954000	0.61252|0.61252	0.569000|0.569000	0.23638|0.23638	-0.175000|-0.175000	0.10725|0.10725	-0.366000|-0.366000	0.07423|0.07423	ATA|TAG		0.428	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		48	69	48	69
RFWD2	64326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	176132075	176132075	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:176132075T>C	ENST00000367669.3	-	5	1206	c.692A>G	c.(691-693)gAt>gGt	p.D231G	RFWD2_ENST00000308769.8_Missense_Mutation_p.D227G	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	231					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCAAGGTTATCTTGGTCAGT	0.358																																					Ovarian(134;1413 1765 5706 35534 51541)											0													101.0	97.0	99.0					1																	176132075		2203	4300	6503	SO:0001583	missense	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.692A>G	1.37:g.176132075T>C	ENSP00000356641:p.Asp231Gly		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811904	0.50527	.	.	ENSG00000143207	ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306;ENST00000436424	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.65	4.52	0.55395	.	0.100313	0.64402	N	0.000003	T	0.10723	0.0262	L	0.43152	1.355	0.53005	D	0.999963	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.0	T	0.05954	-1.0854	10	0.41790	T	0.15	-16.112	11.1623	0.48522	0.0:0.073:0.0:0.927	.	227;231;231	Q8NHY2-2;Q8NHY2;Q504W6	.;RFWD2_HUMAN;.	G	231;86;227;90;231	ENSP00000356641:D231G;ENSP00000356638:D86G;ENSP00000310943:D227G;ENSP00000433810:D90G	ENSP00000310943:D227G	D	-	2	0	RFWD2	174398698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.746000	0.68681	0.970000	0.38263	0.477000	0.44152	GAT		0.358	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		85	99	85	99
RBM11	54033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	15599378	15599378	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr21:15599378G>A	ENST00000400577.3	+	5	619	c.610G>A	c.(610-612)Gct>Act	p.A204T	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	204					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCAGATGACAGCTCCACTTCC	0.463																																																0													382.0	358.0	366.0					21																	15599378		1995	4164	6159	SO:0001583	missense	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.610G>A	21.37:g.15599378G>A	ENSP00000383421:p.Ala204Thr		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543172	0.27563	.	.	ENSG00000185272	ENST00000400577	T	0.09911	2.93	3.3	2.27	0.28462	.	.	.	.	.	T	0.03608	0.0103	N	0.14661	0.345	0.22389	N	0.999144	P	0.38922	0.651	B	0.24974	0.057	T	0.24870	-1.0148	9	0.12103	T	0.63	.	3.3906	0.07287	0.1397:0.0:0.6046:0.2557	.	204	P57052	RBM11_HUMAN	T	204	ENSP00000383421:A204T	ENSP00000383421:A204T	A	+	1	0	RBM11	14521249	0.389000	0.25205	0.995000	0.50966	0.809000	0.45718	0.230000	0.17852	1.786000	0.52430	0.557000	0.71058	GCT		0.463	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		100	373	100	373
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	21228172	21228172	+	Silent	SNP	G	G	A	rs542175556	byFrequency	TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:21228172G>A	ENST00000233242.1	-	26	11695	c.11568C>T	c.(11566-11568)atC>atT	p.I3856I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3856					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCAGGCACGATGATGGTGG	0.473													G|||	2	0.000399361	0.0	0.0	5008	,	,		21869	0.0		0.0	False		,,,				2504	0.002															0													151.0	133.0	139.0					2																	21228172		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11568C>T	2.37:g.21228172G>A			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			110	131	110	131
ACOXL	55289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	111562956	111562956	+	Missense_Mutation	SNP	C	C	T	rs547761662		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:111562956C>T	ENST00000389811.4	+	9	961	c.737C>T	c.(736-738)gCt>gTt	p.A246V	ACOXL_ENST00000439055.1_Missense_Mutation_p.A246V|ACOXL_ENST00000340561.4_Missense_Mutation_p.A246V			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	246					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCTTTCCAAGCTATGGGTGCC	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22236	0.0		0.0	False		,,,				2504	0.0															0													120.0	105.0	110.0					2																	111562956		2203	4300	6503	SO:0001583	missense	55289				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.737C>T	2.37:g.111562956C>T	ENSP00000374461:p.Ala246Val		A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37		.	.	.	.	.	.	.	.	.	.	C	16.78	3.216588	0.58452	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000340561;ENST00000417074	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.96	2.2	0.27929	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.058444	0.64402	N	0.000003	D	0.82733	0.5101	M	0.88241	2.94	0.34503	D	0.706284	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77004	0.989;0.974;0.989	D	0.83885	0.0281	10	0.87932	D	0	-23.2563	6.0207	0.19628	0.1332:0.6503:0.0:0.2165	.	246;246;246	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	V	246;246;97;246;84	ENSP00000374461:A246V;ENSP00000407761:A246V;ENSP00000343717:A246V;ENSP00000387832:A84V	ENSP00000343717:A246V	A	+	2	0	ACOXL	111279427	0.978000	0.34361	0.134000	0.22075	0.747000	0.42532	2.517000	0.45529	0.134000	0.18681	-0.181000	0.13052	GCT		0.453	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		76	121	76	121
NDUFAF3	25915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	49059582	49059582	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:49059582C>G	ENST00000326925.6	+	1	1139	c.5C>G	c.(4-6)gCc>gGc	p.A2G	NDUFAF3_ENST00000326912.4_Intron|DALRD3_ENST00000313778.5_5'Flank|NDUFAF3_ENST00000451378.2_Intron|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000395458.2_Intron|MIR425_ENST00000362162.1_RNA|MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000496568.1_5'UTR	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	2					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TCAGCCATGGCCACCGCTCTC	0.716											OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													25.0	25.0	25.0					3																	49059582		2201	4298	6499	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.5C>G	3.37:g.49059582C>G	ENSP00000323076:p.Ala2Gly	959		Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840145	0.51057	.	.	ENSG00000178057	ENST00000326925	D	0.90261	-2.64	3.8	2.02	0.26589	.	0.367904	0.24783	N	0.035638	D	0.86698	0.5995	L	0.53249	1.67	0.80722	D	1	P	0.35155	0.487	B	0.36608	0.229	D	0.83422	0.0033	10	0.62326	D	0.03	-8.8779	8.2277	0.31579	0.0:0.8068:0.0:0.1932	.	2	Q9BU61	NDUF3_HUMAN	G	2	ENSP00000323076:A2G	ENSP00000323076:A2G	A	+	2	0	NDUFAF3	49034586	0.820000	0.29190	0.088000	0.20740	0.029000	0.11900	1.186000	0.32078	0.583000	0.29574	0.655000	0.94253	GCC		0.716	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		13	22	13	22
UBXN7	26043	hgsc.bcm.edu;broad.mit.edu	37	3	196094958	196094958	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:196094958C>T	ENST00000296328.4	-	8	849	c.775G>A	c.(775-777)Ggt>Agt	p.G259S	UBXN7_ENST00000428095.1_Missense_Mutation_p.G97S|UBXN7_ENST00000535858.1_Missense_Mutation_p.G111S	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	259						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCATGTTCACCCAGAAATCCC	0.398																																																0													116.0	107.0	110.0					3																	196094958		1858	4096	5954	SO:0001583	missense	26043			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.775G>A	3.37:g.196094958C>T	ENSP00000296328:p.Gly259Ser		D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571141	0.28003	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	T;T;T	0.39229	1.09;1.09;1.09	5.29	5.29	0.74685	UAS (1);	0.160177	0.53938	D	0.000042	T	0.20740	0.0499	N	0.04508	-0.205	0.38352	D	0.944376	B	0.02656	0.0	B	0.04013	0.001	T	0.16217	-1.0410	10	0.15499	T	0.54	-14.5524	12.849	0.57846	0.0:0.9157:0.0:0.0843	.	259	O94888	UBXN7_HUMAN	S	259;97;111	ENSP00000296328:G259S;ENSP00000397256:G97S;ENSP00000440716:G111S	ENSP00000296328:G259S	G	-	1	0	UBXN7	197579355	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.742000	0.38248	2.734000	0.93682	0.655000	0.94253	GGT		0.398	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		20	243	20	243
HIST1H4G	8369	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	26247163	26247163	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:26247163C>T	ENST00000244537.4	-	1	96	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	15						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G15S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CACTTGGCACCGCCTTTCCCA	0.517																																																1	Substitution - Missense(1)	large_intestine(1)											50.0	46.0	47.0					6																	26247163		2203	4300	6503	SO:0001583	missense	8369			Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.43G>A	6.37:g.26247163C>T	ENSP00000244537:p.Gly15Ser			Missense_Mutation	SNP	ENST00000244537.4	37	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.305481	0.40795	.	.	ENSG00000124578	ENST00000244537	.	.	.	3.19	3.19	0.36642	Histone-fold (2);	.	.	.	.	T	0.72771	0.3502	.	.	.	0.44454	D	0.997384	D	0.89917	1.0	D	0.78314	0.991	T	0.77013	-0.2745	7	0.56958	D	0.05	.	14.349	0.66688	0.0:1.0:0.0:0.0	.	15	Q99525	H4G_HUMAN	S	15	.	ENSP00000244537:G15S	G	-	1	0	HIST1H4G	26355142	1.000000	0.71417	0.743000	0.31040	0.008000	0.06430	6.999000	0.76283	1.754000	0.51921	0.501000	0.49751	GGT		0.517	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		20	105	20	105
HLA-DQA2	3118	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	rs144060347		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:32713607C>T	ENST00000374940.3	+	3	473	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	TTTCCTGTGACGCTGGGTCAG	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24198	0.0		0.0	False		,,,				2504	0.0															0								C	MET/THR	1,3021		0,1,1510	193.0	152.0	167.0		371	-6.1	0.1	6	dbSNP_134	167	0,5418		0,0,2709	no	missense	HLA-DQA2	NM_020056.4	81	0,1,4219	TT,TC,CC		0.0,0.0331,0.0118	benign	124/256	32713607	1,8439	1511	2709	4220	SO:0001583	missense	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.371C>T	6.37:g.32713607C>T	ENSP00000364076:p.Thr124Met		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	1.637	-0.517475	0.04171	3.31E-4	0.0	ENSG00000237541	ENST00000374940	T	0.02944	4.1	3.06	-6.13	0.02118	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	1.076460	0.07279	N	0.870376	T	0.00356	0.0011	N	0.03304	-0.355	0.19575	N	0.999965	B	0.12630	0.006	B	0.08055	0.003	T	0.47674	-0.9099	10	0.27785	T	0.31	.	1.4748	0.02424	0.1405:0.315:0.142:0.4025	.	124	P01906	DQA2_HUMAN	M	124	ENSP00000364076:T124M	ENSP00000364076:T124M	T	+	2	0	HLA-DQA2	32821585	0.016000	0.18221	0.086000	0.20670	0.026000	0.11368	-0.799000	0.04560	-0.954000	0.03640	0.174000	0.16983	ACG		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		130	127	130	127
SLC25A40	55972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	87466058	87466058	+	Silent	SNP	G	G	A			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:87466058G>A	ENST00000341119.5	-	11	1237	c.891C>T	c.(889-891)tcC>tcT	p.S297S		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	297					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AAAATAATCCGGAAAATCCAT	0.259																																																0													25.0	28.0	27.0					7																	87466058		2184	4241	6425	SO:0001819	synonymous_variant	55972			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.891C>T	7.37:g.87466058G>A			A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	CCDS5610.1																																																																																				0.259	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		28	72	28	72
CPA1	1357	hgsc.bcm.edu;broad.mit.edu	37	7	130024455	130024455	+	Missense_Mutation	SNP	G	G	A	rs369665148		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:130024455G>A	ENST00000011292.3	+	7	925	c.775G>A	c.(775-777)Gct>Act	p.A259T	CPA1_ENST00000484324.1_Missense_Mutation_p.A171T	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	259					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAACTGGGACGCTGGCTTTGG	0.602																																																0								G	THR/ALA	0,4406		0,0,2203	96.0	86.0	89.0		775	3.3	0.1	7		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPA1	NM_001868.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	259/420	130024455	1,13005	2203	4300	6503	SO:0001583	missense	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.775G>A	7.37:g.130024455G>A	ENSP00000011292:p.Ala259Thr		A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465129	0.26335	0.0	1.16E-4	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.11169	2.8;2.8;2.8	5.12	3.32	0.38043	Peptidase M14, carboxypeptidase A (2);	0.148040	0.64402	N	0.000011	T	0.12050	0.0293	L	0.52011	1.625	0.58432	D	0.999999	B;B	0.34264	0.446;0.259	B;B	0.37239	0.116;0.244	T	0.04440	-1.0951	10	0.54805	T	0.06	.	9.5024	0.39026	0.1649:0.0:0.8351:0.0	.	259;171	P15085;C9JUF9	CBPA1_HUMAN;.	T	259;171;171	ENSP00000011292:A259T;ENSP00000419408:A171T;ENSP00000419497:A171T	ENSP00000011292:A259T	A	+	1	0	CPA1	129811691	1.000000	0.71417	0.124000	0.21820	0.052000	0.14988	5.357000	0.66058	0.666000	0.31087	-0.258000	0.10820	GCT		0.602	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		12	151	12	151
ZCRB1	85437	broad.mit.edu;ucsc.edu	37	12	42711595	42711595	+	Missense_Mutation	SNP	G	G	T	rs371619207		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:42711595G>T	ENST00000266529.3	-	4	402	c.219C>A	c.(217-219)aaC>aaA	p.N73K	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.N32K	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	73	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTACCTGTTTGTTGTTTATTG	0.393																																																0													135.0	133.0	134.0					12																	42711595		2203	4299	6502	SO:0001583	missense	85437			BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.219C>A	12.37:g.42711595G>T	ENSP00000266529:p.Asn73Lys		Q6PJX0|Q96TA6	Missense_Mutation	SNP	ENST00000266529.3	37	CCDS8740.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300750	0.23650	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	T;T;T	0.75260	-0.92;-0.92;-0.92	5.93	1.53	0.23141	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.076026	0.85682	D	0.000000	T	0.61426	0.2346	L	0.31804	0.96	0.53005	D	0.999961	B	0.23540	0.087	B	0.30572	0.117	T	0.55630	-0.8111	10	0.52906	T	0.07	-18.4046	8.3363	0.32217	0.5234:0.0:0.4766:0.0	.	73	Q8TBF4	ZCRB1_HUMAN	K	73;32;32	ENSP00000266529:N73K;ENSP00000446732:N32K;ENSP00000448780:N32K	ENSP00000266529:N73K	N	-	3	2	ZCRB1	40997862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.897000	0.48664	0.402000	0.25451	0.655000	0.94253	AAC		0.393	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114		90	137	90	137
UGGT1	56886	broad.mit.edu;hgsc.bcm.edu	37	2	128938471	128938471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:128938471delT	ENST00000259253.6	+	36	3955	c.3908delT	c.(3907-3909)atafs	p.I1303fs	UGGT1_ENST00000375990.3_Frame_Shift_Del_p.I1279fs	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1303	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAGGAGTTTATACCTTACATG	0.373																																																0													70.0	66.0	67.0					2																	128938471		2203	4300	6503	SO:0001589	frameshift_variant	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3908delT	2.37:g.128938471delT	ENSP00000259253:p.Ile1303fs		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Frame_Shift_Del	DEL	ENST00000259253.6	37	CCDS2154.1																																																																																				0.373	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		54	73	54	73
TP63	8626	broad.mit.edu;hgsc.bcm.edu	37	3	189612149	189612149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:189612149delG	ENST00000264731.3	+	14	1990	c.1901delG	c.(1900-1902)cggfs	p.R634fs	TP63_ENST00000320472.5_3'UTR|TP63_ENST00000449992.1_Frame_Shift_Del_p.R455fs|TP63_ENST00000440651.2_Frame_Shift_Del_p.R630fs|TP63_ENST00000354600.5_Frame_Shift_Del_p.R540fs|TP63_ENST00000382063.4_Frame_Shift_Del_p.R549fs|TP63_ENST00000456148.1_Frame_Shift_Del_p.R536fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	634	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTGAGACCCGGGGTGAGCGT	0.567										HNSCC(45;0.13)																																						0													121.0	113.0	116.0					3																	189612149		2203	4300	6503	SO:0001589	frameshift_variant	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1901delG	3.37:g.189612149delG	ENSP00000264731:p.Arg634fs		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Frame_Shift_Del	DEL	ENST00000264731.3	37	CCDS3293.1																																																																																				0.567	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		107	155	107	155
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7574025	7574025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574025delC	ENST00000269305.4	-	10	1191	c.1002delG	c.(1000-1002)gggfs	p.G334fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.G334fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR	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	334	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (in a sporadic cancer; 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.0?(8)|p.I332fs*5(1)|p.?(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)	AGCGCTCACGCCCACGGATCT	0.522		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"""	10	Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|large_intestine(1)|stomach(1)											51.0	40.0	44.0					17																	7574025		2203	4300	6503	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.1002delG	17.37:g.7574025delC	ENSP00000269305:p.Gly334fs		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																																																																																				0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	38	19	38
