#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
PKD1	5310	broad.mit.edu	37	16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr16:2160529G>A	ENST00000262304.4	-	15	4847	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1547	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647																																						uc002cos.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4639-4641)Cgc>Tgc		Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.							43.0	48.0	46.0					16																	2160529		2195	4289	6484	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160529G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4639C>T	16.37:g.2160529G>A	ENSP00000262304:p.Arg1547Cys					TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1547C	p.R1547C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			14	4848	-			1547			PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4639C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	13.21	2.168603	0.38315	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.67698	-0.28;-0.28	5.36	3.38	0.38709	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.126247	0.53938	D	0.000057	T	0.78162	0.4240	M	0.69823	2.125	0.35442	D	0.794935	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.943	T	0.82657	-0.0349	10	0.62326	D	0.03	.	10.3323	0.43829	0.0706:0.0:0.794:0.1353	.	1547;1547	P98161-3;P98161	.;PKD1_HUMAN	C	1547	ENSP00000262304:R1547C;ENSP00000399501:R1547C	ENSP00000262304:R1547C	R	-	1	0	PKD1	2100530	0.998000	0.40836	0.049000	0.19019	0.014000	0.08584	3.743000	0.55104	0.632000	0.30432	0.550000	0.68814	CGC		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	104	0	0	0	1	0	3	104				
CHRM3	1131	broad.mit.edu	37	1	240071606	240071606	+	Silent	SNP	C	C	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:240071606C>A	ENST00000255380.4	+	5	1634	c.855C>A	c.(853-855)ggC>ggA	p.G285G		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	285					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCCCACGGGCAGTTCTCGAA	0.517																																						uc001hyp.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(853-855)ggC>ggA		Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						39.0	44.0	42.0					1																	240071606		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071606C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.855C>A	1.37:g.240071606C>A						CHRM3_uc021plc.1_Silent_p.G285G	p.G285G	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	1634	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	285					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.855C>A	CCDS1616.1																																																																																				0.517	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		16	21	0	0	0	1	0	16	21				
CRISP2	7180	broad.mit.edu	37	6	49665595	49665595	+	Missense_Mutation	SNP	A	A	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:49665595A>T	ENST00000339139.4	-	8	729	c.493T>A	c.(493-495)Tat>Aat	p.Y165N		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	165	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGGCAAACATAGTAGTATTTT	0.328																																						uc003ozm.2																			0		p.Y165C(1)|p.Y164C(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(493-495)Tat>Aat		Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 1, mRNA.							109.0	112.0	111.0					6																	49665595		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49665595A>T	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.493T>A	6.37:g.49665595A>T	ENSP00000339155:p.Tyr165Asn					CRISP2_uc003ozn.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozr.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozo.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozp.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozq.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozl.2_Missense_Mutation_p.Y165N	p.Y165N	NM_003296	NP_003287	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	692	-	Lung NSC(77;0.0161)		165					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.493T>A	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907713	0.72868	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08193	3.12	4.7	4.7	0.59300	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.062767	0.64402	D	0.000003	T	0.26412	0.0645	M	0.91196	3.185	0.54753	D	0.999983	D;D	0.76494	0.999;0.999	D;D	0.80764	0.993;0.994	T	0.14643	-1.0465	10	0.72032	D	0.01	.	12.4302	0.55569	1.0:0.0:0.0:0.0	.	165;165	Q7Z7B2;P16562	.;CRIS2_HUMAN	N	165	ENSP00000339155:Y165N	ENSP00000211238:Y165N	Y	-	1	0	CRISP2	49773554	1.000000	0.71417	0.919000	0.36401	0.883000	0.51084	5.071000	0.64382	2.105000	0.64084	0.528000	0.53228	TAT		0.328	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		62	92	0	0	0	1	0	62	92				
CA13	377677	broad.mit.edu	37	8	86178909	86178909	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:86178909G>A	ENST00000321764.3	+	4	729	c.427G>A	c.(427-429)Gct>Act	p.A143T	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	143					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	AGATGGACTGGCTGTCTTGGG	0.418																																						uc003ydg.2																			0				large_intestine(1)|lung(6)	7						c.(427-429)Gct>Act		Homo sapiens carbonic anhydrase XIII (CA13), mRNA.							128.0	113.0	118.0					8																	86178909		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86178909G>A	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.427G>A	8.37:g.86178909G>A	ENSP00000318912:p.Ala143Thr					CA13_uc003ydf.1_Non-coding_Transcript	p.A143T	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN			3	769	+			143						Missense_Mutation	SNP	ENST00000321764.3	37	c.427G>A	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031701	0.93575	.	.	ENSG00000185015	ENST00000321764	T	0.78481	-1.18	5.49	4.61	0.57282	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.89196	0.6646	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91320	0.5081	10	0.87932	D	0	-22.7973	15.5723	0.76349	0.0:0.1387:0.8613:0.0	.	143	Q8N1Q1	CAH13_HUMAN	T	143	ENSP00000318912:A143T	ENSP00000318912:A143T	A	+	1	0	CA13	86366161	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.531000	0.90610	1.442000	0.47568	0.655000	0.94253	GCT		0.418	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		38	38	0	0	0	1	0	38	38				
ICE1	23379	broad.mit.edu	37	5	5462371	5462371	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:5462371C>T	ENST00000296564.7	+	13	3146	c.2924C>T	c.(2923-2925)gCt>gTt	p.A975V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		975					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTGAGAGAAGCTGCAGTGCAG	0.478																																						uc003jdm.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2923-2925)gCt>gTt		Homo sapiens KIAA0947 (KIAA0947), mRNA.							28.0	30.0	29.0					5																	5462371		2026	4217	6243	SO:0001583	missense	23379							g.chr5:5462371C>T																												ENST00000296564.7:c.2924C>T	5.37:g.5462371C>T	ENSP00000296564:p.Ala975Val						p.A975V	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			12	3146	+			975					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.2924C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	c	8.449	0.852603	0.17106	.	.	ENSG00000164151	ENST00000296564	T	0.08720	3.06	4.49	-1.04	0.10068	.	0.711424	0.13093	N	0.414414	T	0.02970	0.0088	N	0.12746	0.255	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.44937	-0.9295	10	0.05721	T	0.95	-3.5062	3.5542	0.07858	0.2528:0.4689:0.0:0.2783	.	975	Q9Y2F5	K0947_HUMAN	V	975	ENSP00000296564:A975V	ENSP00000296564:A975V	A	+	2	0	KIAA0947	5515371	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.023000	0.12456	-0.031000	0.13781	0.461000	0.40582	GCT		0.478	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			9	11	0	0	0	1	0	9	11				
SACS	26278	broad.mit.edu	37	13	23904954	23904954	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr13:23904954T>A	ENST00000382292.3	-	9	13334	c.13061A>T	c.(13060-13062)cAt>cTt	p.H4354L	SACS_ENST00000402364.1_Missense_Mutation_p.H3604L|SACS_ENST00000382298.3_Missense_Mutation_p.H4354L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4354	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTCTGCAAATGTTTAAAAAC	0.383																																						uc001uon.2																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(13060-13062)cAt>cTt		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							89.0	93.0	92.0					13																	23904954		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	g.chr13:23904954T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13061A>T	13.37:g.23904954T>A	ENSP00000371729:p.His4354Leu					SACS_uc001uoo.2_Missense_Mutation_p.H4207L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.H4354L	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	13650	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4354			J.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.13061A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411280	0.83340	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	T;T;T	0.81163	-1.46;-1.46;-1.46	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	N	0.02916	-0.46	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.84688	0.0721	10	0.59425	D	0.04	.	16.2001	0.82067	0.0:0.0:0.0:1.0	.	4354	Q9NZJ4	SACS_HUMAN	L	4354;3604;4354	ENSP00000371729:H4354L;ENSP00000385844:H3604L;ENSP00000371735:H4354L	ENSP00000371729:H4354L	H	-	2	0	SACS	22802954	1.000000	0.71417	0.712000	0.30502	0.989000	0.77384	8.036000	0.88901	2.216000	0.71823	0.460000	0.39030	CAT		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		40	6	0	0	0	1	0	40	6				
CCDC108	255101	broad.mit.edu	37	2	219890815	219890815	+	Missense_Mutation	SNP	G	G	A	rs141456868		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:219890815G>A	ENST00000341552.5	-	14	2361	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	CCDC108_ENST00000441968.1_Missense_Mutation_p.R760W|CCDC108_ENST00000453220.1_Missense_Mutation_p.R760W	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	760						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGTGCCCGCACCGTCAGG	0.592																																						uc002vjl.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2278-2280)Cgg>Tgg		Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.							79.0	69.0	72.0					2																	219890815		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219890815G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2278C>T	2.37:g.219890815G>A	ENSP00000340776:p.Arg760Trp						p.R760W	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2362	-		Renal(207;0.0915)	760					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2278C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624641	0.46840	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.06608	3.28;3.28;3.28	4.87	2.88	0.33553	.	0.698236	0.11855	N	0.522902	T	0.22513	0.0543	M	0.67953	2.075	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.06215	-1.0839	10	0.66056	D	0.02	-7.944	14.3938	0.66999	0.0:0.0:0.681:0.319	.	760	Q6ZU64	CC108_HUMAN	W	760	ENSP00000340776:R760W;ENSP00000413377:R760W;ENSP00000409117:R760W	ENSP00000340776:R760W	R	-	1	2	CCDC108	219599059	0.906000	0.30813	0.046000	0.18839	0.673000	0.39480	1.657000	0.37366	1.257000	0.44085	0.561000	0.74099	CGG		0.592	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		4	89	0	0	0	1	0	4	89				
SNX22	79856	broad.mit.edu	37	15	64446231	64446231	+	Intron	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr15:64446231G>A	ENST00000325881.4	+	6	519				PPIB_ENST00000558492.1_5'Flank	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22						protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						TGGGGCTACAGGGCTGGGTTG	0.612											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002amz.1																			0				large_intestine(3)|lung(1)|urinary_tract(2)	6						c.(406-408)Ggg>Agg		Homo sapiens sorting nexin 22 (SNX22), mRNA.							75.0	79.0	78.0					15																	64446231		2203	4300	6503	SO:0001627	intron_variant	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64446231G>A	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.460+30G>A	15.37:g.64446231G>A			OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_Intron|SNX22_uc002anc.1_Intron|SNX22_uc021sow.1_5'Flank	p.G136R	NM_024798	NP_079074	Q96L94	SNX22_HUMAN			4	465	+			163					Q8WUS9|Q9H844	Missense_Mutation	SNP	ENST00000325881.4	37	c.406G>A	CCDS10190.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982496	0.18889	.	.	ENSG00000157734	ENST00000380278	.	.	.	3.78	2.81	0.32909	.	.	.	.	.	T	0.63141	0.2486	.	.	.	0.23435	N	0.997685	D	0.89917	1.0	D	0.87578	0.998	T	0.49597	-0.8923	6	.	.	.	.	8.8984	0.35479	0.0:0.0:0.776:0.224	.	136	Q6ZTF9	.	R	136	.	.	G	+	1	0	SNX22	62233284	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	0.357000	0.20199	0.837000	0.34925	0.491000	0.48974	GGG		0.612	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2	NM_024798		4	103	0	0	0	1	0	4	103				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	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)					p.Q61R	NM_002524	NP_002515	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		81	96	0	0	0	1	0	81	96				
SUSD4	55061	broad.mit.edu	37	1	223441914	223441914	+	Silent	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:223441914G>A	ENST00000343846.3	-	3	1098	c.465C>T	c.(463-465)taC>taT	p.Y155Y	SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000484758.2_Silent_p.Y84Y|SUSD4_ENST00000344029.6_Silent_p.Y155Y|SUSD4_ENST00000494793.2_Silent_p.Y155Y|SUSD4_ENST00000366878.4_Silent_p.Y155Y|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	155	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTAGGTCGGGGTACCGGATCT	0.448																																						uc001hnx.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(463-465)taC>taT		Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.							225.0	190.0	202.0					1																	223441914		2203	4300	6503	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223441914G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.465C>T	1.37:g.223441914G>A						SUSD4_uc001hny.4_Silent_p.Y155Y|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.Y155Y|SUSD4_uc010pux.1_Silent_p.Y84Y	p.Y155Y	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	1099	-			155			Sushi 2.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.465C>T	CCDS41471.1																																																																																				0.448	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		3	76	0	0	0	1	0	3	76				
CALCB	797	broad.mit.edu	37	11	15096620	15096620	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr11:15096620A>G	ENST00000533448.1	+	3	211	c.100A>G	c.(100-102)Agc>Ggc	p.S34G	CALCB_ENST00000523376.1_Missense_Mutation_p.S45G|CALCB_ENST00000324229.6_Missense_Mutation_p.S34G			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	34					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGCCCTGGAGAGCAGCCCAGA	0.617											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mlx.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(100-102)Agc>Ggc		Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.							54.0	57.0	56.0					11																	15096620		2200	4294	6494	SO:0001583	missense	797				cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr11:15096620A>G		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.100A>G	11.37:g.15096620A>G	ENSP00000433490:p.Ser34Gly		OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	700	CALCB_uc009ygr.1_Missense_Mutation_p.S34G	p.S34G	NM_000728	NP_000719	P10092	CALCB_HUMAN			2	173	+			34					A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	c.100A>G	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180995	0.38511	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.25085	1.82;1.82;1.82	5.41	1.68	0.24146	.	0.296791	0.29948	N	0.010784	T	0.22044	0.0531	M	0.74881	2.28	0.24692	N	0.993306	B	0.15141	0.012	B	0.14578	0.011	T	0.26916	-1.0089	10	0.48119	T	0.1	.	0.4523	0.00503	0.3945:0.1319:0.2469:0.2267	.	34	P10092	CALCB_HUMAN	G	45;34;34	ENSP00000428882:S45G;ENSP00000346017:S34G;ENSP00000433490:S34G	ENSP00000346017:S34G	S	+	1	0	CALCB	15053196	1.000000	0.71417	0.981000	0.43875	0.774000	0.43823	1.994000	0.40757	0.989000	0.38761	0.459000	0.35465	AGC		0.617	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		42	57	0	0	0	1	0	42	57				
SPHK1	8877	broad.mit.edu	37	17	74383472	74383472	+	Silent	SNP	A	A	G			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr17:74383472A>G	ENST00000545180.1	+	8	1769	c.960A>G	c.(958-960)gtA>gtG	p.V320V	SPHK1_ENST00000323374.4_Silent_p.V406V|SPHK1_ENST00000392496.3_Silent_p.V320V|SPHK1_ENST00000590959.1_Silent_p.V334V|SPHK1_ENST00000592299.1_Silent_p.V320V			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	320					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CCTACTTGGTATATGTGCCCG	0.592																																					GBM(90;966 1307 27369 33775 44498)	uc002jrj.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						c.(1216-1218)gtA>gtG		Homo sapiens sphingosine kinase 1 (SPHK1), transcript variant 2, mRNA.							88.0	79.0	82.0					17																	74383472		2203	4300	6503	SO:0001819	synonymous_variant	8877				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|D-erythro-sphingosine kinase activity|DNA binding|calmodulin binding|diacylglycerol kinase activity|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	g.chr17:74383472A>G	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.960A>G	17.37:g.74383472A>G						SPHK1_uc002jrf.1_Silent_p.V320V|SPHK1_uc002jrg.1_Silent_p.V269V|SPHK1_uc002jrh.2_Silent_p.V334V|SPHK1_uc002jri.2_Silent_p.V320V|SPHK1_uc002jrk.3_Silent_p.V320V	p.V406V	NM_182965	NP_001136074	Q9NYA1	SPHK1_HUMAN			5	1715	+			320					Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Silent	SNP	ENST00000545180.1	37	c.1218A>G	CCDS45785.1																																																																																				0.592	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		25	31	0	0	0	1	0	25	31				
FBXO44	93611	broad.mit.edu	37	1	11718892	11718892	+	Silent	SNP	G	G	A	rs367623463		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:11718892G>A	ENST00000251547.5	+	5	670	c.588G>A	c.(586-588)gcG>gcA	p.A196A	FBXO44_ENST00000376770.1_Silent_p.A196A|FBXO44_ENST00000251546.4_Missense_Mutation_p.D155N|FBXO44_ENST00000376768.1_Missense_Mutation_p.D187N|FBXO44_ENST00000376760.1_Missense_Mutation_p.D155N|FBXO44_ENST00000376762.4_Missense_Mutation_p.D155N	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	196	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACCCGGCGACCATCCAGC	0.672																																						uc010oar.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(559-561)Gac>Aac		Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.		G	,,ASN/ASP,ASN/ASP	0,4406		0,0,2203	46.0	48.0	47.0		588,588,463,463	-5.4	0.0	1		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,missense,missense	FBXO44	NM_001014765.1,NM_033182.5,NM_183412.2,NM_183413.2	,,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	196/256,196/256,155/225,155/225	11718892	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11718892G>A	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.588G>A	1.37:g.11718892G>A						FBXO44_uc001ask.3_Missense_Mutation_p.D155N|FBXO44_uc010oas.2_Silent_p.A56A|FBXO44_uc001asm.3_Silent_p.A196A|FBXO44_uc001asl.3_Silent_p.A196A|FBXO44_uc001asn.3_Missense_Mutation_p.D155N	p.D187N	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	685	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.559G>A	CCDS132.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.011385	0.00422	0.0	1.16E-4	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376768;ENST00000376762;ENST00000376760	T;T;T;T;T	0.44083	0.93;1.24;1.07;0.93;0.93	5.01	-5.38	0.02673	.	0.503034	0.24363	N	0.039179	T	0.18257	0.0438	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24870	-1.0148	9	0.15066	T	0.55	-25.3854	9.026	0.36230	0.1062:0.1303:0.6723:0.0912	.	187;155	B7Z1P2;Q9H4M3-2	.;.	N	155;155;187;155;155	ENSP00000251546:D155N;ENSP00000389820:D155N;ENSP00000365959:D187N;ENSP00000365953:D155N;ENSP00000365951:D155N	ENSP00000251546:D155N	D	+	1	0	FBXO44	11641479	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.892000	0.04131	-0.852000	0.04141	-1.343000	0.01246	GAC		0.672	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		53	42	0	0	0	1	0	53	42				
CNGA3	1261	broad.mit.edu	37	2	98999896	98999896	+	Silent	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:98999896G>A	ENST00000272602.2	+	4	480	c.441G>A	c.(439-441)acG>acA	p.T147T	CNGA3_ENST00000409937.1_Silent_p.T151T|CNGA3_ENST00000393504.1_Silent_p.T147T|CNGA3_ENST00000436404.2_Intron			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	147					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCAACAACACGGAGGAGGAGT	0.587																																						uc010fij.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(451-453)acG>acA		Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.							123.0	106.0	112.0					2																	98999896		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98999896G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.441G>A	2.37:g.98999896G>A						CNGA3_uc002syt.3_Silent_p.T147T|CNGA3_uc002syu.3_Intron	p.T151T			Q16281	CNGA3_HUMAN			4	594	+			147					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.453G>A	CCDS2034.1																																																																																				0.587	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		15	81	0	0	0	1	0	15	81				
ADAMTS2	9509	broad.mit.edu	37	5	178579222	178579222	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:178579222C>T	ENST00000251582.7	-	10	1651	c.1550G>A	c.(1549-1551)tGc>tAc	p.C517Y	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.C517Y	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	517	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGATGGCTGCACCACAGCTG	0.607																																						uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1549-1551)tGc>tAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							79.0	69.0	73.0					5																	178579222		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178579222C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1550G>A	5.37:g.178579222C>T	ENSP00000251582:p.Cys517Tyr					ADAMTS2_uc011dgm.2_Missense_Mutation_p.C517Y	p.C517Y	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	9	1652	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	517			Disintegrin.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1550G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630905	0.87660	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.76316	-1.01;-1.01	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000007	D	0.91633	0.7356	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93783	0.7085	10	0.87932	D	0	.	18.1139	0.89545	0.0:1.0:0.0:0.0	.	517;517	O95450-2;O95450	.;ATS2_HUMAN	Y	517	ENSP00000251582:C517Y;ENSP00000274609:C517Y	ENSP00000251582:C517Y	C	-	2	0	ADAMTS2	178511828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.616000	0.83018	2.513000	0.84729	0.556000	0.70494	TGC		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		15	19	0	0	0	1	0	15	19				
RRBP1	6238	broad.mit.edu	37	20	17639352	17639352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr20:17639352C>A	ENST00000377813.1	-	3	2104	c.1801G>T	c.(1801-1803)Gag>Tag	p.E601*	RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.E601*|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	601	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GAAGCTGACTCTGTCTTTTTA	0.517																																						uc021waw.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(1801-1803)Gag>Tag		SubName: Full=RRBP1 protein; Flags: Fragment;							105.0	96.0	99.0					20																	17639352		2203	4300	6503	SO:0001587	stop_gained	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17639352C>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1801G>T	20.37:g.17639352C>A	ENSP00000367044:p.Glu601*					RRBP1_uc002wpu.3_5'UTR|RRBP1_uc002wpw.1_Intron|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Intron	p.E601*			Q9P2E9	RRBP1_HUMAN			0	1801	-			601			41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	ENST00000377813.1	37	c.1801G>T		.	.	.	.	.	.	.	.	.	.	C	25.2	4.617378	0.87359	.	.	ENSG00000125844	ENST00000377813;ENST00000246043	.	.	.	4.75	3.72	0.42706	.	0.000000	0.34777	N	0.003685	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-43.2177	6.0025	0.19529	0.0:0.7046:0.194:0.1014	.	.	.	.	X	601	.	ENSP00000246043:E601X	E	-	1	0	RRBP1	17587352	0.546000	0.26457	0.939000	0.37840	0.057000	0.15508	2.177000	0.42509	2.591000	0.87537	0.491000	0.48974	GAG		0.517	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		4	49	0	0	0	1	0	4	49				
FAM217A	222826	broad.mit.edu	37	6	4069773	4069773	+	Silent	SNP	T	T	C			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:4069773T>C	ENST00000274673.3	-	7	1087	c.684A>G	c.(682-684)ccA>ccG	p.P228P	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	228																	TTATTGTTTCTGGCTTCAAGT	0.368																																						uc003mvx.3																			0											c.(682-684)ccA>ccG		Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.							104.0	109.0	107.0					6																	4069773		2203	4300	6503	SO:0001819	synonymous_variant	222826							g.chr6:4069773T>C	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.684A>G	6.37:g.4069773T>C						FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Silent_p.P165P	p.P228P	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN			6	1090	-			228					Q5JYK1	Silent	SNP	ENST00000274673.3	37	c.684A>G	CCDS4489.1																																																																																				0.368	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		10	99	0	0	0	1	0	10	99				
ESCO2	157570	broad.mit.edu	37	8	27634109	27634109	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:27634109A>G	ENST00000305188.8	+	3	522	c.284A>G	c.(283-285)aAt>aGt	p.N95S	RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	95					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGGTACCTCAATCCACTGGAG	0.358									SC Phocomelia syndrome																													uc003xgg.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(283-285)aAt>aGt		Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.							59.0	58.0	59.0					8																	27634109		2203	4300	6503	SO:0001583	missense	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634109A>G	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.284A>G	8.37:g.27634109A>G	ENSP00000306999:p.Asn95Ser					ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Missense_Mutation_p.N95S	p.N95S	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	2	367	+		Ovarian(32;0.000953)	95					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.284A>G	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.358100	0.61403	.	.	ENSG00000171320	ENST00000523566;ENST00000305188;ENST00000519637	T;T;T	0.68765	0.37;-0.35;0.38	5.63	3.2	0.36748	.	0.088893	0.85682	N	0.000000	T	0.61324	0.2338	M	0.71581	2.175	0.80722	D	1	P;B	0.42203	0.773;0.192	B;B	0.40782	0.34;0.048	T	0.56117	-0.8032	10	0.35671	T	0.21	-17.909	6.0197	0.19623	0.7505:0.1648:0.0847:0.0	.	95;95	E5RFE4;Q56NI9	.;ESCO2_HUMAN	S	95	ENSP00000428435:N95S;ENSP00000306999:N95S;ENSP00000428027:N95S	ENSP00000306999:N95S	N	+	2	0	ESCO2	27690028	0.984000	0.35163	0.999000	0.59377	0.972000	0.66771	0.986000	0.29590	0.480000	0.27534	0.482000	0.46254	AAT		0.358	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		7	44	0	0	0	1	0	7	44				
CYB5R4	51167	broad.mit.edu	37	6	84634311	84634311	+	Splice_Site	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:84634311G>A	ENST00000369681.5	+	10	954	c.814G>A	c.(814-816)Ggt>Agt	p.G272S		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	272					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GAAAGATACAGGTATGCTGTG	0.348																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	uc003pkf.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e10+1		Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.							142.0	141.0	142.0					6																	84634311		2203	4300	6503	SO:0001630	splice_region_variant	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding	g.chr6:84634311G>A	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.814+1G>A	6.37:g.84634311G>A							p.G272_splice	NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	10	946	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	272					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Splice_Site	SNP	ENST00000369681.5	37	c.814_splice	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458563	0.43634	.	.	ENSG00000065615	ENST00000369681	D	0.93426	-3.22	6.05	6.05	0.98169	Riboflavin synthase-like beta-barrel (1);	0.096235	0.64402	D	0.000001	D	0.87063	0.6084	M	0.72894	2.215	0.80722	D	1	P	0.37663	0.604	B	0.38803	0.282	T	0.82989	-0.0183	10	0.09843	T	0.71	.	9.4444	0.38688	0.1484:0.0:0.8516:0.0	.	272	Q7L1T6	NB5R4_HUMAN	S	272	ENSP00000358695:G272S	ENSP00000358695:G272S	G	+	1	0	CYB5R4	84691030	1.000000	0.71417	0.981000	0.43875	0.059000	0.15707	4.127000	0.57944	2.878000	0.98634	0.650000	0.86243	GGT		0.348	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230	Missense_Mutation	68	98	0	0	0	1	0	68	98				
PHGDH	26227	broad.mit.edu	37	1	120286533	120286533	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:120286533G>T	ENST00000369409.4	+	12	1608	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369407.3_Missense_Mutation_p.R457L	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	491					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GCAGGCGTGCGGCTGCTGTCC	0.582											OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ehz.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(1471-1473)cGg>cTg		Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	NADH(DB00157)						97.0	98.0	98.0					1																	120286533		2203	4300	6503	SO:0001583	missense	26227				L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity	g.chr1:120286533G>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1472G>T	1.37:g.120286533G>T	ENSP00000358417:p.Arg491Leu		OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1502	PHGDH_uc009whm.3_Missense_Mutation_p.R389L|PHGDH_uc001eib.3_Missense_Mutation_p.R457L	p.R491L	NM_006623	NP_006614	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	11	1699	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	491					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.1472G>T	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.102722	0.56183	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.90844	-2.74;-2.74	5.95	4.84	0.62591	.	0.237733	0.43579	D	0.000555	T	0.66858	0.2832	N	0.08118	0	0.25694	N	0.98566	B;B;B;B	0.10296	0.003;0.003;0.003;0.001	B;B;B;B	0.10450	0.005;0.005;0.005;0.003	T	0.61486	-0.7053	10	0.87932	D	0	-2.7389	8.2191	0.31530	0.9084:0.0:0.0916:0.0	.	457;457;364;491	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	L	491;364;457	ENSP00000358417:R491L;ENSP00000358415:R457L	ENSP00000358415:R457L	R	+	2	0	PHGDH	120088056	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.675000	0.54605	1.087000	0.41251	-0.302000	0.09304	CGG		0.582	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		12	128	0	0	0	1	0	12	128				
COL6A3	1293	broad.mit.edu	37	2	238280890	238280890	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:238280890C>T	ENST00000295550.4	-	9	4222	c.3770G>A	c.(3769-3771)aGg>aAg	p.R1257K	COL6A3_ENST00000409809.1_Missense_Mutation_p.R1051K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R850K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R650K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1051K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1051K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1057K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1056K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1257	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCAACCAGCCTCTCTATGAG	0.582																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3769-3771)aGg>aAg		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							54.0	51.0	52.0					2																	238280890		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280890C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3770G>A	2.37:g.238280890C>T	ENSP00000295550:p.Arg1257Lys					COL6A3_uc002vwo.2_Missense_Mutation_p.R1051K|COL6A3_uc010znj.1_Missense_Mutation_p.R650K|COL6A3_uc002vwq.3_Missense_Mutation_p.R1051K|COL6A3_uc002vwr.3_Missense_Mutation_p.R850K	p.R1257K	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	4055	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1257			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3770G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474533	0.43942	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.58	3.79	0.43588	von Willebrand factor, type A (3);	0.308551	0.27609	N	0.018612	T	0.23410	0.0566	N	0.16016	0.355	0.44454	D	0.997388	B;B;B;P;B	0.40302	0.41;0.081;0.081;0.712;0.007	P;B;B;B;B	0.44447	0.45;0.256;0.17;0.279;0.007	T	0.02868	-1.1100	10	0.12766	T	0.61	.	9.4555	0.38751	0.0:0.7833:0.0:0.2167	.	650;850;1051;1051;1257	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	K	1257;1056;1051;650;1051;1057;1051;850	ENSP00000295550:R1257K;ENSP00000315609:R1056K;ENSP00000315873:R1051K;ENSP00000418285:R650K;ENSP00000386844:R1051K;ENSP00000295546:R1057K;ENSP00000375861:R1051K;ENSP00000375860:R850K	ENSP00000295550:R1257K	R	-	2	0	COL6A3	237945629	0.052000	0.20516	0.997000	0.53966	0.698000	0.40448	0.832000	0.27490	0.716000	0.32124	0.655000	0.94253	AGG		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	52	0	0	0	1	0	5	52				
KIF4B	285643	broad.mit.edu	37	5	154394056	154394056	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:154394056C>T	ENST00000435029.4	+	1	797	c.637C>T	c.(637-639)Cat>Tat	p.H213Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	213	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCCCGATCTCATGCCATCTT	0.468																																						uc010jih.1																			0		p.S212S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(637-639)Cat>Tat		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							114.0	110.0	112.0					5																	154394056		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394056C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.637C>T	5.37:g.154394056C>T	ENSP00000387875:p.His213Tyr						p.H213Y	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	797	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	213			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.637C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	16.47	3.132723	0.56828	.	.	ENSG00000226650	ENST00000435029	D	0.93659	-3.26	1.73	1.73	0.24493	Kinesin, motor domain (5);	.	.	.	.	D	0.97860	0.9297	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96765	0.9564	9	0.87932	D	0	.	9.4402	0.38664	0.0:1.0:0.0:0.0	.	213	Q2VIQ3	KIF4B_HUMAN	Y	213	ENSP00000387875:H213Y	ENSP00000387875:H213Y	H	+	1	0	KIF4B	154374249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.734000	0.55037	1.302000	0.44855	0.655000	0.94253	CAT		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			40	34	0	0	0	1	0	40	34				
HBS1L	10767	broad.mit.edu	37	6	135287541	135287541	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:135287541T>C	ENST00000367837.5	-	17	2175	c.1969A>G	c.(1969-1971)Aaa>Gaa	p.K657E	HBS1L_ENST00000415177.2_Missense_Mutation_p.K592E|HBS1L_ENST00000367826.2_Missense_Mutation_p.K615E|HBS1L_ENST00000367824.4_Missense_Mutation_p.K493E|HBS1L_ENST00000445176.2_Missense_Mutation_p.K381E|HBS1L_ENST00000527578.1_Missense_Mutation_p.K493E	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	657					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTAAAGTCTTTATATAGCTCA	0.363																																						uc003qez.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1969-1971)Aaa>Gaa		Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.							144.0	136.0	139.0					6																	135287541		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135287541T>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1969A>G	6.37:g.135287541T>C	ENSP00000356811:p.Lys657Glu					HBS1L_uc003qey.2_Missense_Mutation_p.K493E|HBS1L_uc011ecy.1_Missense_Mutation_p.K381E|HBS1L_uc011ecz.1_Missense_Mutation_p.K493E|HBS1L_uc011eda.1_Missense_Mutation_p.K615E	p.K657E	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	16	2176	-	Colorectal(23;0.221)		657					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1969A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067518	0.76301	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.64618	-0.11;-0.07;-0.07;-0.11;-0.07;-0.09;0.95	5.96	5.96	0.96718	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	N	0.25031	0.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.962;0.978	T	0.69124	-0.5228	10	0.72032	D	0.01	-25.1187	16.4277	0.83824	0.0:0.0:0.0:1.0	.	615;657	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	E	657;493;592;615;493;527;381	ENSP00000356811:K657E;ENSP00000436256:K493E;ENSP00000389826:K592E;ENSP00000356800:K615E;ENSP00000356798:K493E;ENSP00000434533:K527E;ENSP00000415305:K381E	ENSP00000356798:K493E	K	-	1	0	HBS1L	135329234	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.470000	0.80973	2.279000	0.76181	0.533000	0.62120	AAA		0.363	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			6	160	0	0	0	1	0	6	160				
DDX4	54514	broad.mit.edu	37	5	55088550	55088550	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:55088550A>T	ENST00000505374.1	+	17	1476	c.1384A>T	c.(1384-1386)Aag>Tag	p.K462*	DDX4_ENST00000511853.1_Nonsense_Mutation_p.K313*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.K428*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.K428*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.K442*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	462	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGAAATGAAGAAGTTAATTTC	0.368																																						uc003jqg.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1384-1386)Aag>Tag		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.							79.0	77.0	78.0					5																	55088550		2203	4300	6503	SO:0001587	stop_gained	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55088550A>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1384A>T	5.37:g.55088550A>T	ENSP00000424838:p.Lys462*					DDX4_uc010ivz.3_Nonsense_Mutation_p.K442*|DDX4_uc003jqh.4_Nonsense_Mutation_p.K428*|DDX4_uc003jqj.3_Nonsense_Mutation_p.K313*	p.K462*	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN			16	1483	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	462			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Nonsense_Mutation	SNP	ENST00000505374.1	37	c.1384A>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	37	6.272976	0.97431	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	.	.	.	5.39	5.39	0.77823	.	0.057013	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.1209	15.705	0.77573	1.0:0.0:0.0:0.0	.	.	.	.	X	428;442;462;442;428;313	.	ENSP00000334167:K428X	K	+	1	0	DDX4	55124307	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.661000	0.74422	2.170000	0.68504	0.459000	0.35465	AAG		0.368	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		31	34	0	0	0	1	0	31	34				
TUBGCP2	10844	broad.mit.edu	37	10	135098942	135098942	+	Intron	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr10:135098942C>T	ENST00000252936.3	-	11	1935				TUBGCP2_ENST00000368563.2_Intron|TUBGCP2_ENST00000417178.2_Intron|TUBGCP2_ENST00000368562.1_Intron|TUBGCP2_ENST00000543663.1_Intron			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGCAGGTGCCCGAGCAGCCGA	0.647																																						uc009ybk.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1738-1740)tcG>tcA		Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.							24.0	29.0	27.0					10																	135098942		2203	4300	6503	SO:0001627	intron_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135098942C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1895+17G>A	10.37:g.135098942C>T						TUBGCP2_uc001lmf.1_Intron|TUBGCP2_uc001lmg.1_Intron|TUBGCP2_uc010qvc.1_Intron|TUBGCP2_uc010qvd.1_Intron|TUBGCP2_uc001lmh.1_Intron	p.S580S	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	11	2097	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	580					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1740G>A	CCDS7676.1																																																																																				0.647	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			13	14	0	0	0	1	0	13	14				
WDFY3	23001	broad.mit.edu	37	4	85639709	85639709	+	Silent	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr4:85639709G>A	ENST00000295888.4	-	48	8027	c.7620C>T	c.(7618-7620)taC>taT	p.Y2540Y	WDFY3_ENST00000322366.6_Silent_p.Y2523Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2540	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGCACAGCGGTACATGTGTT	0.408																																						uc003hpd.3																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7618-7620)taC>taT		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.							73.0	76.0	75.0					4																	85639709		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85639709G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7620C>T	4.37:g.85639709G>A						WDFY3_uc003hpe.1_Silent_p.Y151Y	p.Y2540Y	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	47	8028	-		Hepatocellular(203;0.114)	2540					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.7620C>T	CCDS3609.1																																																																																				0.408	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		3	56	0	0	0	1	0	3	56				
KDM2A	22992	broad.mit.edu	37	11	66995593	66995593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr11:66995593delC	ENST00000529006.2	+	11	1489	c.1043delC	c.(1042-1044)tccfs	p.S348fs	KDM2A_ENST00000398645.2_Frame_Shift_Del_p.S348fs|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	348					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACCAACCGTTCCCACCTAACT	0.453																																						uc001ojw.3																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1042-1044)tccfs		Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.							186.0	178.0	181.0					11																	66995593		1895	4127	6022	SO:0001589	frameshift_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66995593delC	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1043delC	11.37:g.66995593delC	ENSP00000432786:p.Ser348fs					KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Frame_Shift_Del_p.S42fs	p.S348fs	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			10	1907	+			348					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Frame_Shift_Del	DEL	ENST00000529006.2	37	c.1043delC	CCDS44657.1																																																																																				0.453	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		70	88						70	88	---	---	---	---
DBP	1628	broad.mit.edu	37	19	49139149	49139149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr19:49139149delC	ENST00000222122.5	-	2	681	c.238delG	c.(238-240)gcafs	p.A80fs	DBP_ENST00000593500.1_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000601104.1_Frame_Shift_Del_p.A80fs|DBP_ENST00000599385.1_5'Flank	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	80					liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCCACCACTGCCCCAGCCGGG	0.761																																						uc002pjx.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(238-240)gcafs		Homo sapiens D site of albumin promoter (albumin D-box) binding protein (DBP), mRNA.							2.0	2.0	2.0					19																	49139149		1428	3096	4524	SO:0001589	frameshift_variant	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49139149delC	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.238delG	19.37:g.49139149delC	ENSP00000222122:p.Ala80fs					SEC1_uc010xzv.2_5'Flank|SEC1_uc002pka.3_5'Flank|SEC1_uc010xzw.2_5'Flank|SEC1_uc010ema.3_5'Flank|DBP_uc002pjy.2_Frame_Shift_Del_p.A80fs|DBP_uc010elz.1_Frame_Shift_Del_p.A80fs	p.A80fs	NM_001352	NP_001343	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	1	626	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	80					A2I2P4	Frame_Shift_Del	DEL	ENST00000222122.5	37	c.238delG	CCDS12728.1																																																																																				0.761	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		2	4						2	4	---	---	---	---
GGA1	26088	broad.mit.edu	37	22	38013055	38013055	+	Intron	DEL	G	G	-			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr22:38013055delG	ENST00000343632.4	+	3	590				GGA1_ENST00000414350.3_Frame_Shift_Del_p.K85fs|GGA1_ENST00000381756.5_Splice_Site_p.K85fs|GGA1_ENST00000405147.3_Intron|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000406772.1_Intron	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1						intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACGACACCAAGGGAGGCCAAG	0.622																																						uc003atb.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(253-255)aagfs		Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 3, mRNA.							36.0	39.0	38.0					22																	38013055		2194	4292	6486	SO:0001627	intron_variant	26088				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding	g.chr22:38013055delG	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.204+51G>-	22.37:g.38013055delG						GGA1_uc003atc.3_Intron|GGA1_uc003ate.3_Intron|GGA1_uc003atd.3_Intron|GGA1_uc003atf.3_Intron	p.K85fs	NM_001001561	NP_001001561	Q9UJY5	GGA1_HUMAN			2	642	+	Melanoma(58;0.0574)		0			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Frame_Shift_Del	DEL	ENST00000343632.4	37	c.255delG	CCDS13951.1																																																																																				0.622	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		2	4						2	4	---	---	---	---
