#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UBC	7316	broad.mit.edu	37	12	125397369	125397369	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr12:125397369T>C	ENST00000536769.1	-	1	2525	c.949A>G	c.(949-951)Atc>Gtc	p.I317V	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.I241V|UBC_ENST00000339647.5_Missense_Mutation_p.I317V|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	317	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCGAGAGTGATGGTCTTACCA	0.522																																						uc001ugs.4																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(949-951)Atc>Gtc		Homo sapiens ubiquitin C (UBC), mRNA.							90.0	76.0	80.0					12																	125397369		2202	4286	6488	SO:0001583	missense	7316				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397369T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.949A>G	12.37:g.125397369T>C	ENSP00000441543:p.Ile317Val		Somatic				UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Missense_Mutation_p.I317V|UBC_uc001ugu.1_Missense_Mutation_p.I317V|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.I317V|UBC_uc001ugw.3_Missense_Mutation_p.I165V	p.I317V	NM_021009	NP_066289	WXS	Illumina GAIIx	Phase_I	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1407	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		317			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.949A>G	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.431067	0.25726	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.75050	-0.9;-0.9;-0.9	2.94	2.94	0.34122	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.46442	U	0.000291	T	0.74884	0.3775	M	0.72894	2.215	0.58432	D	0.999999	B;B;B	0.19583	0.016;0.037;0.016	B;B;B	0.36030	0.085;0.216;0.085	T	0.75051	-0.3454	10	0.59425	D	0.04	.	9.4283	0.38595	0.0:0.0:0.0:1.0	.	406;317;317	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	317;317;241;317;241	ENSP00000441543:I317V;ENSP00000344818:I317V;ENSP00000438394:I241V	ENSP00000344818:I317V	I	-	1	0	UBC	123963322	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	6.551000	0.73909	1.382000	0.46385	0.449000	0.29647	ATC		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		40	116	0	0	0	1	0	40	116				
MLIP	90523	broad.mit.edu	37	6	53986246	53986246	+	Splice_Site	SNP	T	T	C			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr6:53986246T>C	ENST00000274897.5	+	2	178	c.65T>C	c.(64-66)gTc>gCc	p.V22A	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Splice_Site_p.V16A|MLIP_ENST00000514921.1_Splice_Site_p.V22A|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Splice_Site_p.V33A|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	22	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GTCTCATAGGTCTCTGCTGGT	0.393																																						uc011dxa.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.e2-1		Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.							123.0	120.0	121.0					6																	53986246		2203	4300	6503	SO:0001630	splice_region_variant	90523					PML body|nuclear envelope	protein binding	g.chr6:53986246T>C	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.64-1T>C	6.37:g.53986246T>C			Somatic				MLIP_uc003pcf.2_Splice_Site_p.V22_splice|MLIP_uc003pcg.4_Splice_Site_p.V22_splice|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	p.V33_splice	NM_138569	NP_612636	WXS	Illumina GAIIx	Phase_I	Q5VWP3	MLIP_HUMAN			2	130	+			22			Interaction with LMNA.		B7Z2N0|D6RE05|Q96H08|Q96NF7	Splice_Site	SNP	ENST00000274897.5	37	c.97_splice	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.991467	0.74703	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000502396;ENST00000358276;ENST00000514433	T;T;T;T;T	0.43294	1.71;1.27;1.3;0.95;1.36	5.13	5.13	0.70059	.	0.099482	0.41001	D	0.000964	T	0.48642	0.1511	M	0.64997	1.995	0.29359	N	0.86482	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.80764	0.994;0.986;0.994	T	0.50101	-0.8867	10	0.72032	D	0.01	0.0025	11.5986	0.50988	0.0:0.0:0.0:1.0	.	33;22;22	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	A	22;22;33;16;23	ENSP00000274897:V22A;ENSP00000425142:V22A;ENSP00000426290:V33A;ENSP00000351019:V16A;ENSP00000421444:V23A	ENSP00000274897:V22A	V	+	2	0	MLIP	54094205	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.309000	0.59135	2.062000	0.61559	0.482000	0.46254	GTC		0.393	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	Missense_Mutation	20	41	0	0	0	1	0	20	41				
CFAP74	85452	broad.mit.edu	37	1	1887133	1887133	+	IGR	SNP	C	C	T			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:1887133C>T								TMEM52 (36421 upstream) : C1orf222 (32429 downstream)																							GGCTCACCTGCGGGCTGCTCC	0.692																																						uc009vkz.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(2173-2175)Gca>Aca		Homo sapiens KIAA1751 (KIAA1751), mRNA.							44.0	48.0	47.0					1																	1887133		2070	4204	6274	SO:0001628	intergenic_variant	85452							g.chr1:1887133C>T																													1.37:g.1887133C>T			Somatic				KIAA1751_uc001aim.1_Missense_Mutation_p.A725T	p.A725T	NM_001080484	NP_001073953	WXS	Illumina GAIIx	Phase_I	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	16	2192	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	725						Missense_Mutation	SNP		37	c.2173G>A		.	.	.	.	.	.	.	.	.	.	C	1.171	-0.640825	0.03557	.	.	ENSG00000142609	ENST00000493964;ENST00000270720	T	0.23754	1.89	2.63	-5.25	0.02781	.	2.768130	0.02179	N	0.060347	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24905	-1.0147	10	0.12103	T	0.63	0.0441	6.5539	0.22450	0.1251:0.2891:0.0:0.5858	.	725;725	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	T	8;725	ENSP00000417061:A8T	ENSP00000270720:A725T	A	-	1	0	C1orf222	1876993	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.311000	0.02723	-2.581000	0.00462	-1.119000	0.02030	GCA	0	0.692									13	26	0	0	0	1	0	13	26				
TBC1D2B	23102	broad.mit.edu	37	15	78305349	78305349	+	Silent	SNP	G	G	A			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr15:78305349G>A	ENST00000300584.3	-	9	2085	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	TBC1D2B_ENST00000409931.3_Silent_p.L696L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	696	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GCCTTCTGCAGCAAGGTCTGG	0.562																																						uc002bcy.4																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2086-2088)Ctg>Ttg		Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.							119.0	89.0	99.0					15																	78305349		2196	4293	6489	SO:0001819	synonymous_variant	23102					intracellular	Rab GTPase activator activity|protein binding	g.chr15:78305349G>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2086C>T	15.37:g.78305349G>A			Somatic				TBC1D2B_uc010bla.3_Silent_p.L696L|TBC1D2B_uc002bda.3_Silent_p.L148L	p.L696L	NM_144572	NP_653173	WXS	Illumina GAIIx	Phase_I	Q9UPU7	TBD2B_HUMAN			8	2086	-			696			Rab-GAP TBC.		A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	c.2086C>T	CCDS45314.1																																																																																				0.562	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		3	20	0	0	0	1	0	3	20				
PDE4D	5144	broad.mit.edu	37	5	58511659	58511659	+	Silent	SNP	G	G	A	rs372078770		TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr5:58511659G>A	ENST00000340635.6	-	2	766	c.591C>T	c.(589-591)agC>agT	p.S197S	PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000507116.1_Silent_p.S133S|PDE4D_ENST00000503258.1_Silent_p.S67S|PDE4D_ENST00000405755.2_Silent_p.S75S|PDE4D_ENST00000502484.2_Silent_p.S136S|PDE4D_ENST00000360047.5_Silent_p.S61S|PDE4D_ENST00000546160.1_Silent_p.S136S|PDE4D_ENST00000502575.1_Silent_p.S133S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	197					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGTCATAATCGCTGTCGGATC	0.493																																						uc003jsa.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(589-591)agC>agT		Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	G	,,,,,	1,3791		0,1,1895	115.0	112.0	113.0		591,408,399,225,201,183	1.7	1.0	5		113	2,8248		0,2,4123	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE4D	NM_001104631.1,NM_001165899.1,NM_001197218.1,NM_001197219.1,NM_001197220.1,NM_006203.4	,,,,,	0,3,6018	AA,AG,GG		0.0242,0.0264,0.0249	,,,,,	197/810,136/749,133/746,75/688,67/680,61/674	58511659	3,12039	1896	4125	6021	SO:0001819	synonymous_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58511659G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.591C>T	5.37:g.58511659G>A			Somatic				PDE4D_uc003jrx.2_Silent_p.S61S|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Silent_p.S133S|PDE4D_uc003jsb.3_Silent_p.S136S|PDE4D_uc003jsc.3_Silent_p.S133S|PDE4D_uc003jrv.2_Silent_p.S67S|PDE4D_uc003jrw.2_Silent_p.S75S|PDE4D_uc010iwi.1_Silent_p.S29S	p.S197S	NM_001104631	NP_001098101	WXS	Illumina GAIIx	Phase_I	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	1	763	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	197					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000340635.6	37	c.591C>T	CCDS47213.1																																																																																				0.493	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			4	52	0	0	0	1	0	4	52				
DNAJC11	55735	broad.mit.edu	37	1	6696243	6696243	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:6696243G>C	ENST00000377577.5	-	15	1711	c.1588C>G	c.(1588-1590)Cag>Gag	p.Q530E	DNAJC11_ENST00000542246.1_Missense_Mutation_p.Q492E|DNAJC11_ENST00000377573.5_Missense_Mutation_p.Q440E|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Q478E|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	530						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGGAACTGATAGAGCACT	0.542																																						uc001aof.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1588-1590)Cag>Gag		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.							89.0	77.0	81.0					1																	6696243		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6696243G>C	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1588C>G	1.37:g.6696243G>C	ENSP00000366800:p.Gln530Glu		Somatic				DNAJC11_uc001aog.2_Missense_Mutation_p.Q478E|DNAJC11_uc010nzu.1_Missense_Mutation_p.Q440E	p.Q530E	NM_018198	NP_060668	WXS	Illumina GAIIx	Phase_I	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	14	1694	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	530					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.1588C>G	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402738	0.25291	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.21361	2.59;2.62;2.33;2.01	5.52	5.52	0.82312	DnaJ-like protein C11, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	L	0.31664	0.95	0.58432	D	0.999999	B;B;B	0.14438	0.01;0.007;0.009	B;B;B	0.17433	0.014;0.018;0.013	T	0.06058	-1.0848	10	0.02654	T	1	-28.1203	18.4484	0.90695	0.0:0.0:1.0:0.0	.	440;478;530	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	E	530;478;492;440	ENSP00000366800:Q530E;ENSP00000294401:Q478E;ENSP00000444020:Q492E;ENSP00000366796:Q440E	ENSP00000294401:Q478E	Q	-	1	0	DNAJC11	6618830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.590000	0.87494	0.655000	0.94253	CAG		0.542	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		17	35	0	0	0	1	0	17	35				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		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.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(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						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	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.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		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)	2	436	-	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)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		67	103	0	0	0	1	0	67	103				
CHEK2	11200	broad.mit.edu	37	22	29090097	29090097	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr22:29090097G>T	ENST00000405598.1	-	14	1575	c.1384C>A	c.(1384-1386)Ctt>Att	p.L462I	CHEK2_ENST00000382578.1_Missense_Mutation_p.L371I|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.L433I|CHEK2_ENST00000544772.1_Missense_Mutation_p.L241I|CHEK2_ENST00000404276.1_Missense_Mutation_p.L462I|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Missense_Mutation_p.L371I|CHEK2_ENST00000382580.2_Missense_Mutation_p.L505I|CHEK2_ENST00000328354.6_Missense_Mutation_p.L462I|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.L433I			O96017	CHK2_HUMAN	checkpoint kinase 2	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCTTGACAAGGTCCAGAGCT	0.448			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adt.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(1513-1515)Ctt>Att	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.							158.0	179.0	171.0					22																	29090097		1387	2363	3750	SO:0001583	missense	11200				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29090097G>T	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1384C>A	22.37:g.29090097G>T	ENSP00000386087:p.Leu462Ile		Somatic				CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.L241I|CHEK2_uc010gvh.1_Missense_Mutation_p.L371I|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adu.1_Missense_Mutation_p.L462I|CHEK2_uc003adv.1_Missense_Mutation_p.L433I|CHEK2_uc003adx.1_Missense_Mutation_p.L241I	p.L505I	NM_001005735	NP_001005735	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			13	1585	-			462					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1513C>A	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.356237	0.82243	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071902	0.56097	D	0.000034	T	0.80507	0.4636	L	0.45470	1.425	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.992;0.988;0.992;0.996;0.994	D;D;D;P;D;D	0.71184	0.959;0.954;0.945;0.858;0.972;0.953	T	0.81765	-0.0783	10	0.72032	D	0.01	-14.9198	18.3006	0.90162	0.0:0.0:1.0:0.0	.	371;241;462;433;462;505	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	I	433;371;145;241;462;462;462;505;371;433	ENSP00000329012:L433I;ENSP00000372021:L371I;ENSP00000442458:L241I;ENSP00000329178:L462I;ENSP00000385747:L462I;ENSP00000386087:L462I;ENSP00000372023:L505I;ENSP00000384919:L371I;ENSP00000384835:L433I	ENSP00000329178:L462I	L	-	1	0	CHEK2	27420097	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.963000	0.56773	2.578000	0.87016	0.555000	0.69702	CTT		0.448	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	127	0	0	0	1	0	6	127				
USP5	8078	broad.mit.edu	37	12	6964920	6964920	+	Splice_Site	SNP	A	A	G			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr12:6964920A>G	ENST00000229268.8	+	3	291	c.239A>G	c.(238-240)aAa>aGa	p.K80R	USP5_ENST00000389231.5_Splice_Site_p.K80R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	80					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TCTTTACAGAAAGAGGAGGAC	0.577																																						uc001qri.4																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.e3-1		Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.							63.0	68.0	66.0					12																	6964920		2203	4300	6503	SO:0001630	splice_region_variant	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6964920A>G	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.238-1A>G	12.37:g.6964920A>G			Somatic				USP5_uc001qrh.4_Splice_Site_p.K80_splice	p.K80_splice	NM_001098536	NP_001092006	WXS	Illumina GAIIx	Phase_I	P45974	UBP5_HUMAN			3	297	+			80					D3DUS7|D3DUS8|Q96J22	Splice_Site	SNP	ENST00000229268.8	37	c.238_splice	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.484239	0.44147	.	.	ENSG00000111667	ENST00000229268;ENST00000389231;ENST00000542087	T;T	0.26223	1.75;1.77	5.67	3.28	0.37604	.	0.199060	0.52532	N	0.000078	T	0.38983	0.1061	M	0.61703	1.905	0.80722	D	1	B;D	0.55800	0.005;0.973	B;P	0.58928	0.012;0.848	T	0.05419	-1.0886	10	0.30078	T	0.28	-0.5668	10.0412	0.42160	0.8631:0.0:0.1369:0.0	.	80;80	P45974;P45974-2	UBP5_HUMAN;.	R	80	ENSP00000229268:K80R;ENSP00000373883:K80R	ENSP00000229268:K80R	K	+	2	0	USP5	6835181	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.959000	0.70339	0.418000	0.25898	0.533000	0.62120	AAA		0.577	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1		Missense_Mutation	37	48	0	0	0	1	0	37	48				
DNAH9	1770	broad.mit.edu	37	17	11827171	11827171	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr17:11827171C>A	ENST00000262442.4	+	62	11858	c.11790C>A	c.(11788-11790)caC>caA	p.H3930Q	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.H242Q|DNAH9_ENST00000454412.2_Missense_Mutation_p.H3930Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3930	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAACTTTCACAACGTGTCTT	0.453																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11788-11790)caC>caA		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							154.0	126.0	135.0					17																	11827171		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11827171C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11790C>A	17.37:g.11827171C>A	ENSP00000262442:p.His3930Gln		Somatic				DNAH9_uc010coo.3_Missense_Mutation_p.H3224Q|DNAH9_uc002gnf.3_Missense_Mutation_p.H242Q|DNAH9_uc010vvh.1_Missense_Mutation_p.H283Q	p.H3930Q	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	61	11858	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3930			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11790C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583659	0.65992	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.08370	3.1;3.1;3.1	4.98	3.94	0.45596	Dynein heavy chain (1);	0.045058	0.85682	D	0.000000	T	0.23410	0.0566	M	0.68317	2.08	0.54753	D	0.999981	P;D	0.69078	0.489;0.997	B;D	0.76575	0.385;0.988	T	0.00113	-1.2042	10	0.59425	D	0.04	.	10.2321	0.43260	0.0:0.8379:0.0:0.1621	.	283;3930	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	Q	3930;3930;2512;242;283	ENSP00000262442:H3930Q;ENSP00000414874:H3930Q;ENSP00000379323:H242Q	ENSP00000262442:H3930Q	H	+	3	2	DNAH9	11767896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.419000	0.34793	2.588000	0.87417	0.561000	0.74099	CAC		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	61	0	0	0	1	0	6	61				
ZNF703	80139	broad.mit.edu	37	8	37555481	37555481	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr8:37555481delG	ENST00000331569.4	+	2	1291	c.1062delG	c.(1060-1062)ccgfs	p.P354fs		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	354	Gly-rich.				adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCCTGCCGCCGGGCAAGCCCC	0.711																																						uc003xjy.1																		FGFR1/ZNF703(2)	0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7						c.(1060-1062)ccgfs		Homo sapiens zinc finger protein 703 (ZNF703), mRNA.							6.0	7.0	7.0					8																	37555481		2041	4128	6169	SO:0001589	frameshift_variant	80139				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr8:37555481delG	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1062delG	8.37:g.37555481delG	ENSP00000332325:p.Pro354fs		Somatic					p.P354fs	NM_025069	NP_079345	WXS	Illumina GAIIx	Phase_I	Q9H7S9	ZN703_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)		1	1259	+			354			Gly-rich.		Q5XG76	Frame_Shift_Del	DEL	ENST00000331569.4	37	c.1062delG	CCDS6094.1																																																																																				0.711	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		2	4						2	4	---	---	---	---
