#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
PPFIA1	8500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	70208264	70208264	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:70208264G>A	ENST00000253925.7	+	20	2861	c.2646G>A	c.(2644-2646)acG>acA	p.T882T	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.T882T	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	882	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACGGGCCAACGGTTGTGGTCT	0.448																																																0													130.0	121.0	124.0					11																	70208264		2200	4294	6494	SO:0001819	synonymous_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2646G>A	11.37:g.70208264G>A			A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	3.093	-0.186402	0.06340	.	.	ENSG00000131626	ENST00000528750	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.33789	0.0875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45234	-0.9275	4	.	.	.	.	3.0496	0.06165	0.4314:0.1133:0.3256:0.1296	.	.	.	.	Q	325	.	.	R	+	2	0	PPFIA1	69885912	0.000000	0.05858	0.003000	0.11579	0.539000	0.34962	-3.965000	0.00324	-3.101000	0.00244	-0.410000	0.06199	CGG		0.448	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		71	109	71	109
SSH2	85464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	27994187	27994187	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr17:27994187G>A	ENST00000269033.3	-	9	934	c.783C>T	c.(781-783)atC>atT	p.I261I	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.I288I	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	261					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGCATCATGATCTCCCTTA	0.383																																																0													169.0	143.0	152.0					17																	27994187		2202	4300	6502	SO:0001819	synonymous_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.783C>T	17.37:g.27994187G>A			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	CCDS11253.1																																																																																				0.383	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		53	114	53	114
CIC	23152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:42791718C>T	ENST00000575354.2	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CIC_ENST00000572681.2_Missense_Mutation_p.R1111W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Substitution - Missense(1)	central_nervous_system(1)											63.0	67.0	66.0					19																	42791718		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.604C>T	19.37:g.42791718C>T	ENSP00000458663:p.Arg202Trp		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590136	0.46214	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.33	0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88273	0.6392	H	0.99238	4.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90719	0.4633	8	0.87932	D	0	-13.7219	11.1765	0.48603	0.1853:0.8147:0.0:0.0	.	202	Q96RK0	CIC_HUMAN	W	202	.	ENSP00000160740:R202W	R	+	1	2	CIC	47483558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	1.030000	0.39839	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			54	28	54	28
ECM1	1893	hgsc.bcm.edu;broad.mit.edu	37	1	150482440	150482440	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr1:150482440A>G	ENST00000369047.4	+	4	391	c.266A>G	c.(265-267)gAa>gGa	p.E89G	ECM1_ENST00000369049.4_Missense_Mutation_p.E116G|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.E89G	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	89					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCAACAGGAAAAGCTGCTA	0.597																																					Melanoma(156;1696 2560 11093 19685)											0													83.0	82.0	82.0					1																	150482440		2203	4300	6503	SO:0001583	missense	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.266A>G	1.37:g.150482440A>G	ENSP00000358043:p.Glu89Gly		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	CCDS953.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433427	0.43224	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.79554	-1.28;-1.28;-1.28	3.67	3.67	0.42095	.	0.269316	0.26373	N	0.024758	T	0.80747	0.4682	M	0.64997	1.995	0.09310	N	1	D;D;P;D;D;D	0.76494	0.999;0.999;0.921;0.993;0.982;0.993	D;D;P;D;P;D	0.66847	0.947;0.913;0.46;0.911;0.82;0.911	T	0.71712	-0.4510	10	0.87932	D	0	-5.6351	8.9851	0.35988	1.0:0.0:0.0:0.0	.	11;18;116;89;89;89	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	G	116;89;89	ENSP00000358045:E116G;ENSP00000358043:E89G;ENSP00000271630:E89G	ENSP00000271630:E89G	E	+	2	0	ECM1	148749064	0.011000	0.17503	0.036000	0.18154	0.029000	0.11900	1.667000	0.37471	1.922000	0.55676	0.374000	0.22700	GAA		0.597	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		10	207	10	207
PLCB1	23236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	8862304	8862304	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr20:8862304A>C	ENST00000338037.6	+	32	3486	c.3459A>C	c.(3457-3459)aaA>aaC	p.K1153N	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1153					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCAAGACAAATTCAAAAGAC	0.468																																																0													142.0	151.0	148.0					20																	8862304		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3459A>C	20.37:g.8862304A>C	ENSP00000338185:p.Lys1153Asn		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582824	0.65992	.	.	ENSG00000182621	ENST00000338037;ENST00000441163	T	0.50548	0.74	5.86	1.11	0.20524	PLC-beta, C-terminal (1);	0.054287	0.64402	D	0.000001	T	0.51227	0.1662	L	0.50333	1.59	0.80722	D	1	D	0.57571	0.98	P	0.57371	0.819	T	0.50101	-0.8867	10	0.87932	D	0	.	7.4901	0.27456	0.7103:0.0:0.2897:0.0	.	1153	Q9NQ66	PLCB1_HUMAN	N	1153;1073	ENSP00000338185:K1153N	ENSP00000338185:K1153N	K	+	3	2	PLCB1	8810304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.564000	0.36375	0.323000	0.23307	-0.242000	0.12053	AAA		0.468	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			167	257	167	257
TCFL5	10732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	61488943	61488943	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr20:61488943G>A	ENST00000335351.3	-	4	1134	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	TCFL5_ENST00000217162.5_Missense_Mutation_p.R300C	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	348	R3 epitope (recognized by Chagas's antibodies).				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R348C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCAACTGACGCATTCTACTC	0.463																																																1	Substitution - Missense(1)	endometrium(1)											101.0	91.0	94.0					20																	61488943		2203	4300	6503	SO:0001583	missense	10732			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1042C>T	20.37:g.61488943G>A	ENSP00000334294:p.Arg348Cys		O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072442	0.55646	.	.	ENSG00000101190	ENST00000335351;ENST00000217162	T;T	0.35605	1.31;1.3	5.31	5.31	0.75309	.	0.240906	0.29916	N	0.010867	T	0.46054	0.1373	L	0.32530	0.975	0.32863	D	0.508239	D;D	0.76494	0.999;0.999	P;P	0.60682	0.878;0.759	T	0.58183	-0.7681	10	0.87932	D	0	-7.3277	14.8197	0.70062	0.0:0.0:0.8469:0.1531	.	300;348	F8W9A4;Q9UL49	.;TCFL5_HUMAN	C	348;300	ENSP00000334294:R348C;ENSP00000217162:R300C	ENSP00000217162:R300C	R	-	1	0	TCFL5	60959388	0.997000	0.39634	0.926000	0.36857	0.984000	0.73092	4.423000	0.59861	2.497000	0.84241	0.585000	0.79938	CGT		0.463	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		88	142	88	142
HEATR5B	54497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	37265041	37265041	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:37265041G>A	ENST00000233099.5	-	21	3268	c.3173C>T	c.(3172-3174)gCa>gTa	p.A1058V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1058V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1058						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGTCGTGGTGCAAACATGTG	0.383																																																0													113.0	98.0	103.0					2																	37265041		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3173C>T	2.37:g.37265041G>A	ENSP00000233099:p.Ala1058Val		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260100	0.95368	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.08546	3.08;3.08	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	M	0.75615	2.305	0.80722	D	1	D	0.64830	0.994	D	0.67231	0.95	T	0.02167	-1.1202	10	0.62326	D	0.03	-13.7478	18.6563	0.91455	0.0:0.0:1.0:0.0	.	1058	Q9P2D3	HTR5B_HUMAN	V	1058	ENSP00000233099:A1058V;ENSP00000346531:A1058V	ENSP00000233099:A1058V	A	-	2	0	HEATR5B	37118545	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.729000	0.98795	2.394000	0.81467	0.643000	0.83706	GCA		0.383	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		56	90	56	90
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			73	94	73	94
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	79420950	79420950	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr4:79420950A>G	ENST00000264895.6	+	61	9631	c.9191A>G	c.(9190-9192)aAc>aGc	p.N3064S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3060	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCGATTCTGAACATCAAGGTG	0.532																																																0													130.0	127.0	128.0					4																	79420950		1961	4158	6119	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9191A>G	4.37:g.79420950A>G	ENSP00000264895:p.Asn3064Ser		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	A	6.722	0.501913	0.12822	.	.	ENSG00000138759	ENST00000264895	T	0.28255	1.62	5.91	3.15	0.36227	.	0.150584	0.56097	N	0.000022	T	0.11580	0.0282	N	0.04297	-0.235	0.80722	D	1	B;B	0.21688	0.028;0.059	B;B	0.22152	0.023;0.038	T	0.10042	-1.0647	10	0.12766	T	0.61	.	5.9437	0.19207	0.6892:0.1341:0.1767:0.0	.	3063;3064	Q86XX4-2;E9PHH6	.;.	S	3064	ENSP00000264895:N3064S	ENSP00000264895:N3064S	N	+	2	0	FRAS1	79639974	1.000000	0.71417	0.993000	0.49108	0.456000	0.32438	1.099000	0.31013	0.840000	0.34995	0.533000	0.62120	AAC		0.532	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				108	150	108	150
IL15	3600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	142651106	142651106	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr4:142651106T>C	ENST00000296545.7	+	7	1191	c.347T>C	c.(346-348)aTc>aCc	p.I116T	IL15_ENST00000320650.4_Missense_Mutation_p.I116T|IL15_ENST00000477265.1_Missense_Mutation_p.I89T|IL15_ENST00000529613.1_Missense_Mutation_p.I116T|IL15_ENST00000394159.1_Missense_Mutation_p.I89T|IL15_ENST00000514653.1_Missense_Mutation_p.I89T			P40933	IL15_HUMAN	interleukin 15	116					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					AATCTGATCATCCTAGCAAAC	0.388																																					Pancreas(10;184 986 25902)											0													122.0	122.0	122.0					4																	142651106		2203	4299	6502	SO:0001583	missense	3600			U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"""Interleukins and interleukin receptors"""	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.347T>C	4.37:g.142651106T>C	ENSP00000296545:p.Ile116Thr		D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	ENST00000296545.7	37	CCDS3755.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257665	0.22965	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.49	4.28	0.50868	.	0.566881	0.18079	N	0.152356	T	0.49218	0.1544	M	0.69823	2.125	0.25384	N	0.98859	P	0.43352	0.804	P	0.48270	0.572	T	0.42766	-0.9432	9	0.49607	T	0.09	-1.9242	8.6396	0.33970	0.1768:0.0:0.0:0.8232	.	116	P40933	IL15_HUMAN	T	116;116;89;116;89;89	.	ENSP00000296545:I116T	I	+	2	0	IL15	142870556	0.026000	0.19158	0.610000	0.28997	0.047000	0.14425	2.199000	0.42715	0.985000	0.38656	0.528000	0.53228	ATC		0.388	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257278.2	NM_172175		63	179	63	179
PCDHGA3	56112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140724038	140724038	+	Silent	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr5:140724038G>A	ENST00000253812.6	+	1	438	c.438G>A	c.(436-438)acG>acA	p.T146T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	146	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T146T(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACTAACGGTTCCTGGAA	0.353																																																1	Substitution - coding silent(1)	breast(1)											49.0	48.0	48.0					5																	140724038		1851	4103	5954	SO:0001819	synonymous_variant	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.438G>A	5.37:g.140724038G>A			Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																				0.353	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		78	68	78	68
KIAA1324L	222223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	86526826	86526826	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr7:86526826A>C	ENST00000450689.2	-	19	2866	c.2681T>G	c.(2680-2682)tTt>tGt	p.F894C	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.F654C|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.F823C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.F727C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	894						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTTACCTGAAATCCTCTCTT	0.468																																																0													104.0	102.0	103.0					7																	86526826		2203	4300	6503	SO:0001583	missense	222223			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2681T>G	7.37:g.86526826A>C	ENSP00000413445:p.Phe894Cys		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.20|14.20	2.464968|2.464968	0.43839|0.43839	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.17213|.	2.56;2.3;2.29;2.3|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.403356|.	0.30151|.	N|.	0.010297|.	T|T	0.40645|0.40645	0.1125|0.1125	L|L	0.40543|0.40543	1.245|1.245	0.27833|0.27833	N|N	0.94137|0.94137	P;P;P|.	0.39696|.	0.617;0.683;0.683|.	P;B;B|.	0.48488|.	0.579;0.163;0.163|.	T|T	0.34204|0.34204	-0.9838|-0.9838	10|5	0.35671|.	T|.	0.21|.	.|.	10.2326|10.2326	0.43264|0.43264	0.8522:0.0:0.0:0.1478|0.8522:0.0:0.0:0.1478	.|.	894;654;727|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	C|M	894;654;823;727|854	ENSP00000413445:F894C;ENSP00000297222:F654C;ENSP00000397377:F823C;ENSP00000402390:F727C|.	ENSP00000297222:F654C|.	F|I	-|-	2|3	0|3	KIAA1324L|KIAA1324L	86364762|86364762	0.961000|0.961000	0.32948|0.32948	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.929000|3.929000	0.56514|0.56514	2.134000|2.134000	0.65973|0.65973	0.528000|0.528000	0.53228|0.53228	TTT|ATT		0.468	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		72	140	72	140
KCNU1	157855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	36766859	36766859	+	Missense_Mutation	SNP	C	C	T	rs199759602		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr8:36766859C>T	ENST00000399881.3	+	21	2174	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	713	Segment S9.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R713W(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GTATAAGTTTCGGAACCATAT	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16879	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	large_intestine(2)						C	TRP/ARG	8,3754		0,8,1873	219.0	212.0	214.0		2137	4.9	0.9	8		214	0,8242		0,0,4121	yes	missense	KCNU1	NM_001031836.2	101	0,8,5994	TT,TC,CC		0.0,0.2127,0.0666	probably-damaging	713/1150	36766859	8,11996	1881	4121	6002	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2137C>T	8.37:g.36766859C>T	ENSP00000382770:p.Arg713Trp			Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245906	0.39697	0.002127	0.0	ENSG00000215262	ENST00000399881	T	0.32272	1.46	5.8	4.93	0.64822	.	0.758151	0.10676	U	0.646924	T	0.32675	0.0837	L	0.54323	1.7	0.80722	D	1	B	0.23490	0.086	B	0.15052	0.012	T	0.06972	-1.0797	10	0.66056	D	0.02	-2.6227	12.8229	0.57704	0.0:0.9241:0.0:0.0759	.	713	A8MYU2	KCNU1_HUMAN	W	713	ENSP00000382770:R713W	ENSP00000382770:R713W	R	+	1	2	KCNU1	36886017	0.998000	0.40836	0.914000	0.36105	0.011000	0.07611	2.455000	0.44988	1.468000	0.48064	-0.136000	0.14681	CGG		0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		255	395	255	395
NOTCH1	4851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	139412204	139412204	+	Splice_Site	SNP	C	C	G			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr9:139412204C>G	ENST00000277541.6	-	8	1516	c.1441G>C	c.(1441-1443)Ggc>Cgc	p.G481R	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G481S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGACGCACCGGGCATGCAG	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											43.0	47.0	46.0					9																	139412204		2065	4192	6257	SO:0001630	splice_region_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1441+1G>C	9.37:g.139412204C>G			Q59ED8|Q5SXM3	Splice_Site	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609280	0.87258	.	.	ENSG00000148400	ENST00000277541	D	0.87412	-2.25	4.47	4.47	0.54385	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95417	0.8512	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97010	0.9735	9	.	.	.	.	16.0962	0.81127	0.0:1.0:0.0:0.0	.	481	P46531	NOTC1_HUMAN	R	481	ENSP00000277541:G481R	.	G	-	1	0	NOTCH1	138532025	1.000000	0.71417	0.142000	0.22268	0.012000	0.07955	7.319000	0.79040	2.029000	0.59856	0.462000	0.41574	GGC		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Missense_Mutation	43	80	43	80
SMC4	10051	broad.mit.edu;ucsc.edu	37	3	160141575	160141575	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr3:160141575G>C	ENST00000357388.3	+	15	2723	c.2272G>C	c.(2272-2274)Gta>Cta	p.V758L	SMC4_ENST00000360111.2_Missense_Mutation_p.V758L|SMC4_ENST00000469762.1_Missense_Mutation_p.V733L|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.V758L|SMC4_ENST00000344722.5_Missense_Mutation_p.V758L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	758	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGAAGCAAAGTAATGAAAGG	0.383																																																0													105.0	107.0	106.0					3																	160141575		2203	4299	6502	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2272G>C	3.37:g.160141575G>C	ENSP00000349961:p.Val758Leu		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217943	0.58560	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	6.17	4.31	0.51392	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.294314	0.37053	N	0.002277	D	0.86740	0.6005	M	0.87456	2.885	0.51233	D	0.999916	B;B;B;B	0.23128	0.069;0.027;0.08;0.039	B;B;B;B	0.31245	0.039;0.114;0.126;0.032	T	0.82486	-0.0433	10	0.28530	T	0.3	-21.049	12.589	0.56434	0.0694:0.1864:0.7442:0.0	.	758;733;733;758	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	L	758;758;733;758;758;352	ENSP00000349961:V758L;ENSP00000353225:V758L;ENSP00000417964:V733L;ENSP00000420734:V758L;ENSP00000341382:V758L	ENSP00000341382:V758L	V	+	1	0	SMC4	161624269	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	2.681000	0.46926	2.941000	0.99782	0.655000	0.94253	GTA		0.383	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			34	144	34	144
ANKRD11	29123	broad.mit.edu;ucsc.edu	37	16	89350191	89350191	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr16:89350191C>T	ENST00000301030.4	-	9	3219	c.2759G>A	c.(2758-2760)aGg>aAg	p.R920K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R920K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	920	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCTCTTTCCTCTTCTCAGA	0.547																																																0													85.0	81.0	83.0					16																	89350191		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2759G>A	16.37:g.89350191C>T	ENSP00000301030:p.Arg920Lys		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	3.096	-0.185821	0.06340	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.32753	1.44;1.44	5.31	2.92	0.33932	.	0.064498	0.56097	D	0.000032	T	0.09335	0.0230	N	0.04508	-0.205	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.18777	-1.0326	10	0.05833	T	0.94	.	2.6144	0.04900	0.0:0.4386:0.2949:0.2665	.	539;920	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	K	920;920;539	ENSP00000301030:R920K;ENSP00000367581:R920K	ENSP00000301030:R920K	R	-	2	0	ANKRD11	87877692	1.000000	0.71417	0.057000	0.19452	0.266000	0.26442	3.235000	0.51328	1.334000	0.45468	0.591000	0.81541	AGG		0.547	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		108	211	108	211
DNM1P46	196968	broad.mit.edu;ucsc.edu	37	15	100332827	100332827	+	RNA	SNP	G	G	A			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr15:100332827G>A	ENST00000341853.1	-	0	1364				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TGACTACAACGAGGGACACAG	0.612																																																0													76.0	77.0	77.0					15																	100332827		876	1991	2867			196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332827G>A			Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																					0.612	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		26	22	26	22
