#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
KMT2A	4297	hgsc.bcm.edu;broad.mit.edu	37	11	118380710	118380710	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:118380710A>G	ENST00000389506.5	+	30	10939	c.10939A>G	c.(10939-10941)Atg>Gtg	p.M3647V	KMT2A_ENST00000534358.1_Missense_Mutation_p.M3650V|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.M3609V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3647					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTCCCCACTGATGCTTTGGCT	0.398																																																0													94.0	91.0	92.0					11																	118380710		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10939A>G	11.37:g.118380710A>G	ENSP00000374157:p.Met3647Val		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.527423	0.27299	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.81415	-1.49;-1.49;-1.45	5.87	5.87	0.94306	.	0.136638	0.64402	D	0.000002	T	0.73102	0.3544	L	0.40543	1.245	0.39663	D	0.970634	P;P	0.39250	0.665;0.665	B;B	0.36244	0.22;0.22	T	0.72574	-0.4252	10	0.21540	T	0.41	.	16.2736	0.82632	1.0:0.0:0.0:0.0	.	3650;3647	E9PQG7;Q03164	.;MLL1_HUMAN	V	3650;3647;3609;2557	ENSP00000436786:M3650V;ENSP00000374157:M3647V;ENSP00000346516:M3609V	ENSP00000346516:M3609V	M	+	1	0	MLL	117885920	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.159000	0.58157	2.247000	0.74100	0.477000	0.44152	ATG		0.398	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		7	96	7	96
CSNK1A1L	122011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	37678952	37678952	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:37678952G>A	ENST00000379800.3	-	1	851	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTACAGTGACGCCCAGTACCC	0.408																																																0													207.0	190.0	196.0					13																	37678952		2203	4300	6503	SO:0001583	missense	122011			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.442C>T	13.37:g.37678952G>A	ENSP00000369126:p.Arg148Cys		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	4.516	0.095806	0.08681	.	.	ENSG00000180138	ENST00000379800	T	0.20200	2.09	1.08	-1.18	0.09617	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.107353	0.64402	N	0.000011	T	0.25717	0.0626	M	0.92923	3.36	0.49798	D	0.999824	B	0.27882	0.192	B	0.23852	0.049	T	0.04017	-1.0984	10	0.72032	D	0.01	.	2.9263	0.05785	0.2049:0.0:0.5331:0.262	.	148	Q8N752	KC1AL_HUMAN	C	148	ENSP00000369126:R148C	ENSP00000369126:R148C	R	-	1	0	CSNK1A1L	36576952	0.998000	0.40836	0.682000	0.30024	0.220000	0.24768	2.267000	0.43329	-0.504000	0.06577	0.561000	0.74099	CGT		0.408	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		35	143	35	143
UGGT2	55757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	96489363	96489363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:96489363G>A	ENST00000376747.3	-	37	4448	c.4378C>T	c.(4378-4380)Caa>Taa	p.Q1460*		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1460	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTGGCTCTTTGTTTGGATTCA	0.358																																																0													162.0	145.0	151.0					13																	96489363		2203	4300	6503	SO:0001587	stop_gained	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4378C>T	13.37:g.96489363G>A	ENSP00000365938:p.Gln1460*		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Nonsense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	42	9.389272	0.99156	.	.	ENSG00000102595	ENST00000376747	.	.	.	5.65	1.11	0.20524	.	0.889113	0.10046	N	0.722801	.	.	.	.	.	.	0.29328	N	0.866867	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4139	9.652	0.39904	0.0:0.1934:0.2237:0.5828	.	.	.	.	X	1460	.	ENSP00000365938:Q1460X	Q	-	1	0	UGGT2	95287364	0.366000	0.25014	0.986000	0.45419	0.997000	0.91878	0.468000	0.22051	0.368000	0.24481	0.561000	0.74099	CAA		0.358	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		23	46	23	46
TTLL5	23093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	76349031	76349031	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:76349031A>G	ENST00000298832.9	+	30	3731	c.3526A>G	c.(3526-3528)Atc>Gtc	p.I1176V	TTLL5_ENST00000556893.1_Missense_Mutation_p.I727V|TTLL5_ENST00000557636.1_Missense_Mutation_p.I1191V|TTLL5_ENST00000554510.1_Missense_Mutation_p.I685V	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1176					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTGTAGGCAATCTTTGGCAG	0.413																																																0													52.0	54.0	54.0					14																	76349031		2203	4300	6503	SO:0001583	missense	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3526A>G	14.37:g.76349031A>G	ENSP00000298832:p.Ile1176Val		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	A	5.850	0.341076	0.11069	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.22539	4.05;4.13;1.95;1.95	5.7	4.49	0.54785	.	0.417082	0.24377	N	0.039055	T	0.10809	0.0264	L	0.27053	0.805	0.20074	N	0.999936	B;B;B;B	0.10296	0.001;0.003;0.001;0.0	B;B;B;B	0.14578	0.002;0.011;0.002;0.0	T	0.23904	-1.0175	10	0.15952	T	0.53	.	1.8212	0.03111	0.5287:0.1435:0.0806:0.2472	.	1191;250;727;1176	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	V	250;1191;1176;727;727;685	ENSP00000450713:I1191V;ENSP00000298832:I1176V;ENSP00000452524:I727V;ENSP00000451946:I685V	ENSP00000286653:I250V	I	+	1	0	TTLL5	75418784	0.729000	0.28090	0.936000	0.37596	0.199000	0.23934	1.199000	0.32235	2.178000	0.69098	0.533000	0.62120	ATC		0.413	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		42	37	42	37
MINK1	50488	hgsc.bcm.edu;ucsc.edu	37	17	4797861	4797861	+	Silent	SNP	G	G	T	rs567807984		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:4797861G>T	ENST00000355280.6	+	24	3046	c.2850G>T	c.(2848-2850)tcG>tcT	p.S950S	MINK1_ENST00000453408.3_Silent_p.S930S|MINK1_ENST00000347992.7_Silent_p.S921S	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCAAGAGCTCGTTCACGATGT	0.607																																																0													57.0	62.0	61.0					17																	4797861		2119	4244	6363	SO:0001819	synonymous_variant	50488			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2850G>T	17.37:g.4797861G>T				Silent	SNP	ENST00000355280.6	37	CCDS45588.1																																																																																				0.607	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		5	21	5	21
KRT9	3857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	39725736	39725736	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:39725736T>A	ENST00000246662.4	-	4	1051	c.986A>T	c.(985-987)gAg>gTg	p.E329V	KRT9_ENST00000588431.1_Missense_Mutation_p.E96V	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	329	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTGCTCATACTCCTGACGCAT	0.498																																																0													219.0	176.0	190.0					17																	39725736		2203	4300	6503	SO:0001583	missense	3857				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.986A>T	17.37:g.39725736T>A	ENSP00000246662:p.Glu329Val		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844126	0.71488	.	.	ENSG00000171403	ENST00000246662	D	0.89415	-2.51	4.25	4.25	0.50352	Filament (1);	.	.	.	.	D	0.93588	0.7953	M	0.87617	2.895	0.19775	N	0.99995	D	0.60575	0.988	P	0.56343	0.796	D	0.87451	0.2401	9	0.87932	D	0	.	13.3587	0.60644	0.0:0.0:0.0:1.0	.	329	P35527	K1C9_HUMAN	V	329	ENSP00000246662:E329V	ENSP00000246662:E329V	E	-	2	0	KRT9	36979262	0.961000	0.32948	0.009000	0.14445	0.182000	0.23217	7.471000	0.80985	1.538000	0.49270	0.459000	0.35465	GAG		0.498	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		30	46	30	46
AGMAT	79814	hgsc.bcm.edu;broad.mit.edu	37	1	15904231	15904231	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:15904231G>A	ENST00000375826.3	-	5	991	c.849C>T	c.(847-849)gcC>gcT	p.A283A	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	283					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCGCATAGGCAGGATCCA	0.527																																					NSCLC(126;1678 1780 25805 43508 49531)											0													125.0	111.0	116.0					1																	15904231		2203	4300	6503	SO:0001819	synonymous_variant	79814			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.849C>T	1.37:g.15904231G>A			Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	CCDS160.1																																																																																				0.527	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		5	68	5	68
HOOK1	51361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	60314160	60314160	+	Missense_Mutation	SNP	G	G	A	rs143143349		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:60314160G>A	ENST00000371208.3	+	11	1360	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	368	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATGCAGCACGTACACAATTA	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		18313	0.001		0.0	False		,,,				2504	0.0															0								G	HIS/ARG	0,4406		0,0,2203	68.0	72.0	71.0		1103	5.9	1.0	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	HOOK1	NM_015888.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	368/729	60314160	1,13005	2203	4300	6503	SO:0001583	missense	51361			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1103G>A	1.37:g.60314160G>A	ENSP00000360252:p.Arg368His		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.2	4.903201	0.92035	0.0	1.16E-4	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.24538	1.85;1.85	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.74258	2.255	0.80722	D	1	D	0.69078	0.997	P	0.60886	0.88	T	0.50180	-0.8858	10	0.66056	D	0.02	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	368	Q9UJC3	HOOK1_HUMAN	H	368;326	ENSP00000360252:R368H;ENSP00000378928:R326H	ENSP00000360252:R368H	R	+	2	0	HOOK1	60086748	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.353000	0.79414	2.805000	0.96524	0.460000	0.39030	CGT		0.308	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		42	21	42	21
LRRC7	57554	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	70452024	70452024	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:70452024C>T	ENST00000035383.5	+	8	802	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	LRRC7_ENST00000310961.5_Missense_Mutation_p.L263F|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	258						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.L258I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTTGAGGACCTCTTATTGTC	0.328																																																1	Substitution - Missense(1)	lung(1)											98.0	94.0	95.0					1																	70452024		2203	4300	6503	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.772C>T	1.37:g.70452024C>T	ENSP00000035383:p.Leu258Phe		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.603194	0.46423	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	D;D	0.81499	-1.5;-1.5	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.76574	2.34	0.80722	D	1	P	0.40066	0.701	B	0.42959	0.403	T	0.78778	-0.2071	10	0.39692	T	0.17	.	17.6337	0.88116	0.0:1.0:0.0:0.0	.	258	Q96NW7	LRRC7_HUMAN	F	263;258;81	ENSP00000309245:L263F;ENSP00000035383:L258F	ENSP00000035383:L258F	L	+	1	0	LRRC7	70224612	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.658000	0.68003	2.840000	0.97914	0.655000	0.94253	CTC		0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		25	21	25	21
FUBP1	8880	hgsc.bcm.edu;broad.mit.edu	37	1	78430845	78430845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:78430845C>A	ENST00000370768.2	-	8	625	c.544G>T	c.(544-546)Gga>Tga	p.G182*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G203*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.G182*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	182					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTCCCGGTCCATCGCCATGA	0.408			"""F, N"""		oligodendroglioma																																		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													150.0	148.0	148.0					1																	78430845		2203	4300	6503	SO:0001587	stop_gained	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.544G>T	1.37:g.78430845C>A	ENSP00000359804:p.Gly182*		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078219	0.94000	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.0204	19.9468	0.97185	0.0:1.0:0.0:0.0	.	.	.	.	X	181;182;182;181;203;202	.	ENSP00000294623:G181X	G	-	1	0	FUBP1	78203433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.784000	0.95788	0.650000	0.86243	GGA		0.408	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		9	131	9	131
NRAS	4893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	610	Substitution - Missense(609)|Complex(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)											180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys		Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		87	49	87	49
DIEXF	27042	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	210016932	210016932	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:210016932C>G	ENST00000491415.2	+	11	1975	c.1918C>G	c.(1918-1920)Cac>Gac	p.H640D		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	640					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAATTTTACCCACATCTGCGA	0.458																																																0													99.0	91.0	93.0					1																	210016932		2203	4300	6503	SO:0001583	missense	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1918C>G	1.37:g.210016932C>G	ENSP00000419005:p.His640Asp		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862444	0.51482	.	.	ENSG00000117597	ENST00000491415	T	0.41065	1.01	5.66	4.75	0.60458	.	0.133775	0.64402	D	0.000002	T	0.26593	0.0650	N	0.14661	0.345	0.48901	D	0.999725	P	0.44344	0.833	B	0.40702	0.338	T	0.03423	-1.1038	10	0.14252	T	0.57	-29.8489	14.44	0.67309	0.0:0.9295:0.0:0.0705	.	640	Q68CQ4	DIEXF_HUMAN	D	640	ENSP00000419005:H640D	ENSP00000419005:H640D	H	+	1	0	DIEXF	208083555	0.992000	0.36948	0.989000	0.46669	0.907000	0.53573	3.041000	0.49807	1.396000	0.46663	0.561000	0.74099	CAC		0.458	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		15	55	15	55
ANGPT4	51378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	861878	861878	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr20:861878C>T	ENST00000381922.3	-	5	989	c.887G>A	c.(886-888)cGc>cAc	p.R296H	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R296H	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	296	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGCCCCAGAGCGCTGGATCTC	0.562																																					Pancreas(181;481 2077 3259 31286 49856)											0													74.0	62.0	66.0					20																	861878		2203	4300	6503	SO:0001583	missense	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.887G>A	20.37:g.861878C>T	ENSP00000371347:p.Arg296His		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651333	0.47362	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13901	2.55;2.55	4.91	2.83	0.33086	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.763445	0.12106	N	0.499017	T	0.19846	0.0477	N	0.25332	0.735	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.68621	0.959;0.95	T	0.09207	-1.0685	10	0.52906	T	0.07	.	6.078	0.19925	0.1626:0.6607:0.0:0.1767	.	296;296	B4E3J9;Q9Y264	.;ANGP4_HUMAN	H	296	ENSP00000371347:R296H;ENSP00000439605:R296H	ENSP00000371347:R296H	R	-	2	0	ANGPT4	809878	0.004000	0.15560	0.943000	0.38184	0.596000	0.36781	0.564000	0.23563	1.303000	0.44873	-0.291000	0.09656	CGC		0.562	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		12	40	12	40
INO80B	83444	hgsc.bcm.edu;ucsc.edu	37	2	74682279	74682279	+	Silent	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:74682279G>A	ENST00000233331.7	+	1	130	c.36G>A	c.(34-36)ggG>ggA	p.G12G	INO80B_ENST00000409917.1_Silent_p.G12G|INO80B_ENST00000469849.1_3'UTR	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	12					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCACCTCTGGGGCTATGGAGG	0.572																																																0													79.0	85.0	83.0					2																	74682279		2203	4300	6503	SO:0001819	synonymous_variant	83444			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.36G>A	2.37:g.74682279G>A				Silent	SNP	ENST00000233331.7	37	CCDS1942.2																																																																																				0.572	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		37	133	37	133
KCNH7	90134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	163693238	163693238	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:163693238C>T	ENST00000332142.5	-	2	215	c.116G>A	c.(115-117)tGt>tAt	p.C39Y	KCNH7_ENST00000328032.4_Missense_Mutation_p.C39Y	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	39					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AATGATGGCACAGTTCTGCAC	0.423																																					GBM(196;1492 2208 17507 24132 45496)											0													74.0	65.0	68.0					2																	163693238		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.116G>A	2.37:g.163693238C>T	ENSP00000331727:p.Cys39Tyr		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442574	0.83993	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99574	-6.2;-6.2	5.94	5.94	0.96194	PAS (2);	0.000000	0.85682	D	0.000000	D	0.99121	0.9697	L	0.33339	1.005	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.91635	0.999;0.991	D	0.97724	1.0198	10	0.02654	T	1	.	19.3514	0.94389	0.0:1.0:0.0:0.0	.	39;39	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Y	39	ENSP00000331727:C39Y;ENSP00000333781:C39Y	ENSP00000333781:C39Y	C	-	2	0	KCNH7	163401484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	TGT		0.423	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		18	60	18	60
MSTN	2660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	190927295	190927295	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:190927295T>G	ENST00000260950.4	-	1	160	c.28A>C	c.(28-30)Att>Ctt	p.I10L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	10					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AACAGGTAAATATAAACACAG	0.323																																																0													81.0	80.0	80.0					2																	190927295		2203	4299	6502	SO:0001583	missense	2660			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.28A>C	2.37:g.190927295T>G	ENSP00000260950:p.Ile10Leu		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	T	8.543	0.873634	0.17322	.	.	ENSG00000138379	ENST00000260950	T	0.69040	-0.37	5.49	5.49	0.81192	.	0.286569	0.39475	N	0.001345	T	0.51312	0.1667	N	0.24115	0.695	0.41078	D	0.985507	B	0.06786	0.001	B	0.08055	0.003	T	0.48479	-0.9032	10	0.11182	T	0.66	-12.7864	15.7597	0.78070	0.0:0.0:0.0:1.0	.	10	O14793	GDF8_HUMAN	L	10	ENSP00000260950:I10L	ENSP00000260950:I10L	I	-	1	0	MSTN	190635540	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.824000	0.27379	2.304000	0.77564	0.528000	0.53228	ATT		0.323	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		40	82	40	82
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			33	66	33	66
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	13719099	13719099	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13719099T>C	ENST00000265104.4	-	72	12495	c.12391A>G	c.(12391-12393)Acc>Gcc	p.T4131A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4131	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTCGGTGGTCATCCAGAGG	0.473									Kartagener syndrome																																							0													144.0	141.0	142.0					5																	13719099		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12391A>G	5.37:g.13719099T>C	ENSP00000265104:p.Thr4131Ala		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412825	0.62511	.	.	ENSG00000039139	ENST00000265104	T	0.12039	2.72	5.59	5.59	0.84812	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	H	0.99117	4.435	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.77127	-0.2702	10	0.62326	D	0.03	.	15.782	0.78267	0.0:0.0:0.0:1.0	.	4131	Q8TE73	DYH5_HUMAN	A	4131	ENSP00000265104:T4131A	ENSP00000265104:T4131A	T	-	1	0	DNAH5	13772099	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	7.928000	0.87587	2.122000	0.65172	0.528000	0.53228	ACC		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		54	86	54	86
FNDC9	408263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	156770036	156770036	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:156770036T>C	ENST00000312349.4	-	2	696	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000522463.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	170						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TTCCTCCCTCTGACCAAGATC	0.612											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													81.0	83.0	82.0					5																	156770036		2203	4300	6503	SO:0001583	missense	408263			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.509A>G	5.37:g.156770036T>C	ENSP00000310594:p.Gln170Arg	1781	A8K0Y6	Missense_Mutation	SNP	ENST00000312349.4	37	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635109	0.47049	.	.	ENSG00000172568	ENST00000312349;ENST00000520782	T;T	0.63580	-0.05;-0.05	5.08	-0.791	0.10929	.	0.497322	0.18100	N	0.151723	T	0.35480	0.0933	N	0.19112	0.55	0.25971	N	0.982495	B	0.06786	0.001	B	0.06405	0.002	T	0.06881	-1.0802	10	0.28530	T	0.3	-6.5282	1.4331	0.02338	0.3942:0.0888:0.135:0.382	.	170	Q8TBE3	FNDC9_HUMAN	R	170	ENSP00000310594:Q170R;ENSP00000429434:Q170R	ENSP00000310594:Q170R	Q	-	2	0	FNDC9	156702614	0.990000	0.36364	0.927000	0.36925	0.722000	0.41435	0.458000	0.21892	0.231000	0.21079	0.402000	0.26972	CAG		0.612	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		64	88	64	88
FAM50B	26240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	3850199	3850199	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:3850199C>T	ENST00000380274.1	+	1	580	c.154C>T	c.(154-156)Cat>Tat	p.H52Y	FAM50B_ENST00000380272.3_Missense_Mutation_p.H52Y			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	52						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GTTCTCGGCGCATTACGACGC	0.647																																																0													56.0	51.0	53.0					6																	3850199		2203	4300	6503	SO:0001583	missense	26240			Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.154C>T	6.37:g.3850199C>T	ENSP00000369627:p.His52Tyr		Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096882	0.76870	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.16	4.16	0.48862	.	0.123433	0.53938	U	0.000060	T	0.70954	0.3283	M	0.79258	2.445	0.47698	D	0.999493	D	0.69078	0.997	P	0.61201	0.885	T	0.75396	-0.3332	9	0.62326	D	0.03	-35.8068	14.3485	0.66682	0.0:1.0:0.0:0.0	.	52	Q9Y247	FA50B_HUMAN	Y	52	.	ENSP00000369625:H52Y	H	+	1	0	FAM50B	3795198	1.000000	0.71417	0.743000	0.31040	0.476000	0.33039	6.410000	0.73294	2.311000	0.77944	0.561000	0.74099	CAT		0.647	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		12	19	12	19
C2	717	hgsc.bcm.edu;ucsc.edu	37	6	31913064	31913064	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:31913064T>G	ENST00000299367.5	+	18	2465	c.2189T>G	c.(2188-2190)aTc>aGc	p.I730S	CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.I484S|CFB_ENST00000556679.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.I598S|C2_ENST00000452323.2_Missense_Mutation_p.I516S|CFB_ENST00000425368.2_5'Flank|C2_ENST00000468407.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	730	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GACTTTCACATCAATCTCTTC	0.592																																																0													85.0	89.0	87.0					6																	31913064		1511	2709	4220	SO:0001583	missense	717				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.2189T>G	6.37:g.31913064T>G	ENSP00000299367:p.Ile730Ser		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.72|16.72	3.202548|3.202548	0.58234|0.58234	.|.	.|.	ENSG00000166278|ENSG00000166278	ENST00000469372;ENST00000452323;ENST00000299367;ENST00000442278|ENST00000383177	T;T;T;T|.	0.29397|.	1.57;1.57;1.57;1.57|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);|.	0.000000|.	0.39985|.	N|.	0.001213|.	T|T	0.64034|0.64034	0.2562|0.2562	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.76494|.	0.996;0.999;0.996;0.998;0.998;0.992|.	P;P;P;P;P;P|.	0.61070|.	0.756;0.883;0.756;0.853;0.853;0.708|.	T|T	0.65307|0.65307	-0.6200|-0.6200	10|5	0.87932|.	D|.	0|.	-16.0149|-16.0149	14.1443|14.1443	0.65339|0.65339	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	701;516;484;598;598;730|.	B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681|.	.;.;.;.;.;CO2_HUMAN|.	S|A	484;516;730;598|504	ENSP00000418923:I484S;ENSP00000392322:I516S;ENSP00000299367:I730S;ENSP00000395683:I598S|.	ENSP00000299367:I730S|.	I|S	+|+	2|1	0|0	C2|C2	32021043|32021043	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.218000|0.218000	0.24690|0.24690	3.643000|3.643000	0.54374|0.54374	2.232000|2.232000	0.73038|0.73038	0.402000|0.402000	0.26972|0.26972	ATC|TCA		0.592	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			50	109	50	109
STK38	11329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	36489539	36489539	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:36489539C>A	ENST00000229812.7	-	5	647	c.362G>T	c.(361-363)cGt>cTt	p.R121L	RN7SL748P_ENST00000483066.2_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.R121L(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCTTTACGGAGTATTTT	0.338																																					Colon(180;997 3561 16158)											1	Substitution - Missense(1)	lung(1)											129.0	137.0	134.0					6																	36489539		2203	4300	6503	SO:0001583	missense	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.362G>T	6.37:g.36489539C>A	ENSP00000229812:p.Arg121Leu			Missense_Mutation	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669827	0.88348	.	.	ENSG00000112079	ENST00000229812	T	0.66099	-0.19	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047414	0.85682	D	0.000000	T	0.67211	0.2869	L	0.46567	1.45	0.80722	D	1	D	0.53885	0.963	D	0.63033	0.91	T	0.60737	-0.7204	10	0.33940	T	0.23	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	121	Q15208	STK38_HUMAN	L	121	ENSP00000229812:R121L	ENSP00000229812:R121L	R	-	2	0	STK38	36597517	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	CGT		0.338	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		64	133	64	133
DNAH8	1769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	38980113	38980113	+	Silent	SNP	G	G	A	rs577421218	byFrequency	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:38980113G>A	ENST00000359357.3	+	88	13097	c.12843G>A	c.(12841-12843)ttG>ttA	p.L4281L	DNAH8_ENST00000441566.1_Silent_p.L4245L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4281					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCTAAAATTGGCCATTGAAG	0.348																																																0													185.0	171.0	176.0					6																	38980113		2203	4300	6503	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12843G>A	6.37:g.38980113G>A			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																					0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		47	95	47	95
ATG5	9474	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	106764041	106764041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:106764041G>A	ENST00000369076.3	-	2	366	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*|ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame|ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	15					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)		p.R15*(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GTTGGAATTCGTCCAAACCAC	0.378																																																1	Substitution - Nonsense(1)	prostate(1)											230.0	206.0	214.0					6																	106764041		2203	4300	6503	SO:0001587	stop_gained	9474			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.43C>T	6.37:g.106764041G>A	ENSP00000358072:p.Arg15*		O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Nonsense_Mutation	SNP	ENST00000369076.3	37	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	G	38	7.257072	0.98168	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000360666	.	.	.	5.15	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.4776	13.7184	0.62712	0.0748:0.0:0.9252:0.0	.	.	.	.	X	15	.	ENSP00000343313:R15X	R	-	1	2	ATG5	106870734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.457000	0.80775	1.159000	0.42565	0.655000	0.94253	CGA		0.378	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849		73	151	73	151
RSPH4A	345895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	116938227	116938227	+	Silent	SNP	A	A	G			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:116938227A>G	ENST00000229554.5	+	1	578	c.441A>G	c.(439-441)ggA>ggG	p.G147G	RSPH4A_ENST00000368581.4_Silent_p.G147G|RSPH4A_ENST00000368580.4_Silent_p.G147G	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	147					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCAGAAGGAAACACCTTTC	0.458									Kartagener syndrome																																							0													123.0	123.0	123.0					6																	116938227		2203	4300	6503	SO:0001819	synonymous_variant	345895	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.441A>G	6.37:g.116938227A>G			B4DSI1|Q3KP24|Q5TD95	Silent	SNP	ENST00000229554.5	37	CCDS34521.1																																																																																				0.458	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		45	68	45	68
AOC1	26	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	150554515	150554515	+	Silent	SNP	C	C	T	rs565010501		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr7:150554515C>T	ENST00000493429.1	+	4	1541	c.957C>T	c.(955-957)taC>taT	p.Y319Y	AOC1_ENST00000467291.1_Silent_p.Y319Y|AOC1_ENST00000416793.2_Silent_p.Y319Y|AOC1_ENST00000360937.4_Silent_p.Y319Y			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	319					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTGTGCTCTACGGCGGCTGGA	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		16435	0.0		0.0	False		,,,				2504	0.001															0													17.0	21.0	20.0					7																	150554515		2143	4241	6384	SO:0001819	synonymous_variant	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.957C>T	7.37:g.150554515C>T			C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	CCDS43679.1																																																																																				0.692	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		8	21	8	21
FAM83A	84985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	124219482	124219482	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:124219482C>T	ENST00000518448.1	+	5	2873	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	FAM83A_ENST00000536633.1_Missense_Mutation_p.R287C|FAM83A_ENST00000276699.6_Missense_Mutation_p.R287C|FAM83A_ENST00000522648.1_Missense_Mutation_p.R231C|FAM83A_ENST00000318462.6_Missense_Mutation_p.R287C|FAM83A_ENST00000546351.1_Missense_Mutation_p.R231C			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	287										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAGGAGTTCCGCCACCTCTA	0.672																																																0													32.0	28.0	29.0					8																	124219482		2203	4300	6503	SO:0001583	missense	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.859C>T	8.37:g.124219482C>T	ENSP00000428876:p.Arg287Cys		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146953	0.77888	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	4.85	2.04	0.26737	.	0.066845	0.64402	D	0.000019	T	0.41328	0.1154	M	0.88377	2.95	0.80722	D	1	B;D;D	0.89917	0.427;1.0;1.0	B;D;D	0.87578	0.067;0.992;0.998	T	0.16660	-1.0395	10	0.87932	D	0	-18.359	5.4642	0.16634	0.1381:0.6375:0.0:0.2244	.	231;287;287	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	C	287;231;287;287;231;287	ENSP00000428876:R287C;ENSP00000440565:R231C;ENSP00000445218:R287C;ENSP00000323034:R287C;ENSP00000427979:R231C;ENSP00000276699:R287C	ENSP00000276699:R287C	R	+	1	0	FAM83A	124288663	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.958000	0.29227	0.200000	0.20447	0.436000	0.28706	CGC		0.672	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		11	15	11	15
NOTCH1	4851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	139412203	139412203	+	Splice_Site	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139412203C>T	ENST00000277541.6	-	8	1517		c.e8+1		MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGACGCACCGGGCATGCA	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	0													43.0	47.0	45.0					9																	139412203		2062	4191	6253	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>A	9.37:g.139412203C>T			Q59ED8|Q5SXM3	Splice_Site	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126559	0.56721	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0962	0.81127	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138532024	1.000000	0.71417	0.153000	0.22517	0.011000	0.07611	5.609000	0.67661	2.029000	0.59856	0.462000	0.41574	.		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Intron	9	67	9	67
BEND2	139105	hgsc.bcm.edu;broad.mit.edu	37	X	18221653	18221653	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:18221653G>T	ENST00000380033.4	-	5	1007	c.875C>A	c.(874-876)gCc>gAc	p.A292D	BEND2_ENST00000380030.3_Missense_Mutation_p.A292D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	292										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGATGACAAGGCTCTACCTGG	0.418																																																0													109.0	102.0	105.0					X																	18221653		2203	4300	6503	SO:0001583	missense	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.875C>A	X.37:g.18221653G>T	ENSP00000369372:p.Ala292Asp		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494344	0.26774	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.38077	1.16;1.36	3.93	-0.196	0.13232	.	46.964800	0.00520	N	0.000199	T	0.29321	0.0730	L	0.27053	0.805	0.09310	N	1	P;B	0.47409	0.895;0.002	P;B	0.50109	0.631;0.004	T	0.17653	-1.0362	10	0.12103	T	0.63	0.8309	0.6923	0.00893	0.2365:0.1854:0.3856:0.1925	.	292;292	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	D	292	ENSP00000369372:A292D;ENSP00000369369:A292D	ENSP00000369369:A292D	A	-	2	0	BEND2	18131574	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.153000	0.10144	-0.037000	0.13646	0.436000	0.28706	GCC		0.418	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		13	232	13	232
TAF9B	51616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	77394339	77394339	+	Splice_Site	SNP	C	C	T			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:77394339C>T	ENST00000341864.5	-	2	228		c.e2+1			NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa						DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CATTAACTTACGGAAAGCAAA	0.328																																																0													126.0	119.0	122.0					X																	77394339		2203	4296	6499	SO:0001630	splice_region_variant	51616			AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.133+1G>A	X.37:g.77394339C>T			B2RUZ9|Q9Y2S3	Splice_Site	SNP	ENST00000341864.5	37	CCDS35340.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671291	0.67814	.	.	ENSG00000187325	ENST00000341864	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9199	0.58226	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF9B	77280995	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.879000	0.75572	1.898000	0.54952	0.513000	0.50165	.		0.328	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975	Intron	44	73	44	73
ARMCX1	51309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	100808652	100808652	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:100808652G>A	ENST00000372829.3	+	4	1110	c.739G>A	c.(739-741)Ggt>Agt	p.G247S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	247						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						ACGTGAATTGGGTGGTGTCCC	0.388																																																0													142.0	134.0	137.0					X																	100808652		2203	4300	6503	SO:0001583	missense	51309			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.739G>A	X.37:g.100808652G>A	ENSP00000361917:p.Gly247Ser		Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	g	18.50	3.636680	0.67130	.	.	ENSG00000126947	ENST00000372829	T	0.49720	0.77	3.92	3.92	0.45320	Armadillo-like helical (1);Armadillo-type fold (1);	0.172525	0.49916	D	0.000122	T	0.59676	0.2211	L	0.49126	1.545	0.48341	D	0.999637	D	0.89917	1.0	D	0.91635	0.999	T	0.61879	-0.6972	10	0.72032	D	0.01	-12.9663	10.3409	0.43877	0.0:0.0:1.0:0.0	.	247	Q9P291	ARMX1_HUMAN	S	247	ENSP00000361917:G247S	ENSP00000361917:G247S	G	+	1	0	ARMCX1	100695308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.463000	0.60128	2.198000	0.70561	0.544000	0.68410	GGT		0.388	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		106	206	106	206
PCSK6	5046	broad.mit.edu;ucsc.edu	37	15	101929754	101929754	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr15:101929754G>A	ENST00000348070.1	-	10	1221	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.R408C|PCSK6_ENST00000331826.7_Missense_Mutation_p.R243C|PCSK6_ENST00000344273.2_Missense_Mutation_p.R408C|PCSK6_ENST00000358417.3_Missense_Mutation_p.R408C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	409	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCGCTGACGCAGATCCGTG	0.582																																																0													65.0	72.0	70.0					15																	101929754		2145	4247	6392	SO:0001583	missense	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1222C>T	15.37:g.101929754G>A	ENSP00000305056:p.Arg408Cys		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37		.	.	.	.	.	.	.	.	.	.	G	19.90	3.912938	0.72983	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D;D	0.81659	-1.5;-1.5;-1.52;-1.5;-1.5;-1.5	5.74	5.74	0.90152	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.109261	0.64402	D	0.000011	D	0.91865	0.7425	M	0.93594	3.435	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;P;D;D	0.87578	0.998;0.896;0.978;0.99;0.994;0.99;0.897;0.996;0.997	D	0.93062	0.6475	10	0.62326	D	0.03	-23.5356	13.8251	0.63346	0.0:0.0:0.8472:0.1528	.	409;314;408;409;408;408;409;409;408	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	C	408;408;313;408;408;243	ENSP00000305056:R408C;ENSP00000351193:R408C;ENSP00000381246:R313C;ENSP00000344410:R408C;ENSP00000381243:R408C;ENSP00000332052:R243C	ENSP00000332052:R243C	R	-	1	0	PCSK6	99747277	0.912000	0.30974	0.993000	0.49108	0.932000	0.56968	1.187000	0.32090	2.702000	0.92279	0.655000	0.94253	CGT		0.582	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		38	58	38	58
ERCC6L2	375748	broad.mit.edu;ucsc.edu	37	9	98774903	98774903	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:98774903G>C	ENST00000407474.3	+	4	1527	c.1014G>C	c.(1012-1014)aaG>aaC	p.K338N				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1368					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CAGAAACTAAGAAATCACCTG	0.368																																																0													56.0	62.0	60.0					9																	98774903		2203	4300	6503	SO:0001583	missense	375748			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.1014G>C	9.37:g.98774903G>C	ENSP00000384365:p.Lys338Asn		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000407474.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.155|0.155	-1.087697|-1.087697	0.01873|0.01873	.|.	.|.	ENSG00000182150|ENSG00000182150	ENST00000407474|ENST00000320486	.|.	.|.	.|.	4.64|4.64	-0.449|-0.449	0.12226|0.12226	.|.	0.433151|.	0.19285|.	N|.	0.118041|.	T|T	0.19846|0.19846	0.0477|0.0477	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.20671|.	0.047|.	B|.	0.22386|.	0.039|.	T|T	0.23190|0.23190	-1.0195|-1.0195	8|4	0.23302|.	T|.	0.38|.	.|.	0.9144|0.9144	0.01301|0.01301	0.344:0.2896:0.2197:0.1468|0.344:0.2896:0.2197:0.1468	.|.	338|.	A4D997|.	CI102_HUMAN|.	N|T	338|329	.|.	ENSP00000384365:K338N|.	K|R	+|+	3|2	2|0	C9orf102|C9orf102	97814724|97814724	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.237000|0.237000	0.25408|0.25408	-0.189000|-0.189000	0.09629|0.09629	-0.272000|-0.272000	0.09259|0.09259	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.368	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		40	50	40	50
SERBP1	26135	broad.mit.edu;hgsc.bcm.edu	37	1	67895672	67895675	+	Splice_Site	DEL	TTCT	TTCT	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:67895672_67895675delTTCT	ENST00000370995.2	-	1	394_397	c.309_312delAGAA	c.(307-312)aaagaa>aa	p.KE103fs	SERBP1_ENST00000361219.6_Splice_Site_p.KE103fs|SERBP1_ENST00000370990.5_Splice_Site_p.KE103fs|SERBP1_ENST00000370994.4_Splice_Site_p.KE103fs			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	103					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTGCTTTACCTTCTTTCTTAAGCG	0.632																																																0																																										SO:0001630	splice_region_variant	26135			AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.313+1AGAA>-	1.37:g.67895676_67895679delTTCT			Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Splice_Site	DEL	ENST00000370995.2	37	CCDS30746.1																																																																																				0.632	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067	Frame_Shift_Del	36	106	36	106
APPL1	26060	broad.mit.edu;hgsc.bcm.edu	37	3	57302495	57302498	+	Frame_Shift_Del	DEL	AAAC	AAAC	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:57302495_57302498delAAAC	ENST00000288266.3	+	21	2110_2113	c.1963_1966delAAAC	c.(1963-1968)aaacaafs	p.KQ657fs	ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	657					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		agaactcaataaacaaaaacagat	0.314																																																0																																										SO:0001589	frameshift_variant	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1963_1966delAAAC	3.37:g.57302495_57302498delAAAC	ENSP00000288266:p.Lys657fs		Q9P2B9	Frame_Shift_Del	DEL	ENST00000288266.3	37	CCDS2882.1																																																																																				0.314	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		18	42	18	42
NOTCH1	4851	broad.mit.edu;hgsc.bcm.edu	37	9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139413129_139413131delTCA	ENST00000277541.6	-	6	1086_1088	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	337	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0																																										SO:0001651	inframe_deletion	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.1011_1013delTGA	9.37:g.139413132_139413134delTCA	ENSP00000277541:p.Asp338del		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	CCDS43905.1																																																																																				0.631	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	27	13	27
