#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
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C	rs551210093		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332570T>C																													15.37:g.22332570T>C														0	377	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			5	496	0	0	0	1	0	5	496				
PHKA2	5256	broad.mit.edu	37	X	18915370	18915370	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:18915370C>T	ENST00000379942.4	-	30	3858	c.3193G>A	c.(3193-3195)Ggc>Agc	p.G1065S	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'Flank|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1065	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCCACTGGCCCTGCCGCTCA	0.622																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3193-3195)Ggc>Agc		phosphorylase kinase, alpha 2 (liver)							54.0	46.0	49.0					X																	18915370		2203	4298	6501	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18915370C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3193G>A	X.37:g.18915370C>T	ENSP00000369274:p.Gly1065Ser						p.G1065S	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			30	3858	-	Hepatocellular(33;0.183)		1065			Calmodulin-binding (Potential).		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3193G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988475	0.74589	.	.	ENSG00000044446	ENST00000379942	D	0.94330	-3.4	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96731	0.9539	10	0.46703	T	0.11	-21.1582	18.0547	0.89361	0.0:1.0:0.0:0.0	.	1065	P46019	KPB2_HUMAN	S	1065	ENSP00000369274:G1065S	ENSP00000369274:G1065S	G	-	1	0	PHKA2	18825291	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	7.400000	0.79949	2.199000	0.70637	0.523000	0.50628	GGC		0.622	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	122	0	0	0	1	0	6	122				
CHEK2P2	646096	broad.mit.edu	37	15	20496770	20496770	+	RNA	SNP	T	T	C	rs3865047		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr15:20496770T>C	ENST00000555186.1	+	0	823					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TTATAGTGTGTATTTTAATTA	0.353																																						ENST00000555186.1																			0																																																			646096							g.chr15:20496770T>C			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496770T>C								NR_038836.1						0	823	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.353	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		5	44	0	0	0	1	0	5	44				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	30	0	0	0	1	0	3	30				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		52	58	0	0	0	1	0	52	58				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	41	0	0	0	1	0	5	41				
ZNF275	10838	broad.mit.edu	37	X	152613127	152613127	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:152613127G>T	ENST00000421401.3	+	4	1161	c.984G>T	c.(982-984)aaG>aaT	p.K328N	ZNF275_ENST00000440091.1_Missense_Mutation_p.K358N|ZNF275_ENST00000370251.3_Intron|ZNF275_ENST00000370249.2_Missense_Mutation_p.K275N			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCGGCAAGGCCTTCCGCC	0.692																																						ENST00000421401.3																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(982-984)aaG>aaT		zinc finger protein 275							17.0	18.0	17.0					X																	152613127		2194	4288	6482	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152613127G>T	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.984G>T	X.37:g.152613127G>T	ENSP00000398977:p.Lys328Asn					ZNF275_ENST00000370249.2_Missense_Mutation_p.K275N|ZNF275_ENST00000440091.1_Missense_Mutation_p.K358N|ZNF275_ENST00000370251.2_Intron	p.K328N	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN			4	1161	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		244					A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37	c.984G>T		.	.	.	.	.	.	.	.	.	.	G	17.72	3.459684	0.63401	.	.	ENSG00000063587	ENST00000421401;ENST00000440091;ENST00000370249	T;T;T	0.27890	1.64;1.64;1.64	4.35	2.56	0.30785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42053	D	0.000769	T	0.49881	0.1583	.	.	.	0.39464	D	0.967614	D	0.89917	1.0	D	0.97110	1.0	T	0.46857	-0.9161	8	.	.	.	-25.8796	7.9047	0.29755	0.2128:0.0:0.7872:0.0	.	328	Q9NSD4	ZN275_HUMAN	N	328;358;275	ENSP00000398977:K328N;ENSP00000411097:K358N;ENSP00000359269:K275N	.	K	+	3	2	ZNF275	152266321	0.988000	0.35896	0.999000	0.59377	0.686000	0.39977	1.862000	0.39448	0.416000	0.25844	0.436000	0.28706	AAG		0.692	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		7	39	1	0	0.000274275	1	0.000281688	7	39				
THUMPD2	80745	broad.mit.edu	37	2	39997221	39997221	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr2:39997221C>A	ENST00000505747.1	-	3	328	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	THUMPD2_ENST00000260619.6_Missense_Mutation_p.D71Y|THUMPD2_ENST00000454352.2_Missense_Mutation_p.D71Y|THUMPD2_ENST00000403537.3_5'UTR	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	101							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTTCCTGGATCTTCATTTATA	0.289																																						ENST00000505747.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(301-303)Gat>Tat		THUMP domain containing 2							43.0	44.0	44.0					2																	39997221		2189	4279	6468	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39997221C>A	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.301G>T	2.37:g.39997221C>A	ENSP00000423933:p.Asp101Tyr					THUMPD2_ENST00000260619.6_Missense_Mutation_p.D71Y|THUMPD2_ENST00000454352.2_Missense_Mutation_p.D71Y|THUMPD2_ENST00000403537.3_5'UTR	p.D101Y	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN			3	328	-		all_hematologic(82;0.248)	101					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.301G>T	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635221	0.47049	.	.	ENSG00000138050	ENST00000505747;ENST00000260619;ENST00000454352	.	.	.	5.71	5.71	0.89125	.	0.150159	0.56097	D	0.000024	T	0.77598	0.4154	M	0.69823	2.125	0.40811	D	0.983426	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.972;0.98	T	0.77718	-0.2483	8	.	.	.	.	15.3774	0.74621	0.0:1.0:0.0:0.0	.	71;8;101	E7EUG5;B4DP37;Q9BTF0	.;.;THUM2_HUMAN	Y	101;71;71	.	.	D	-	1	0	THUMPD2	39850725	0.997000	0.39634	0.980000	0.43619	0.165000	0.22458	2.415000	0.44635	2.686000	0.91538	0.650000	0.86243	GAT		0.289	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		6	57	1	0	3.59834e-05	1	4.02167e-05	6	57				
CUX2	23316	broad.mit.edu	37	12	111729283	111729283	+	Silent	SNP	T	T	C			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr12:111729283T>C	ENST00000261726.6	+	5	517	c.363T>C	c.(361-363)ttT>ttC	p.F121F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	121					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCCCAGCTTTGACCCCAGTG	0.627																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(361-363)ttT>ttC		cut-like homeobox 2							47.0	53.0	51.0					12																	111729283		1944	4143	6087	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111729283T>C	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.363T>C	12.37:g.111729283T>C							p.F121F	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			5	517	+			121					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.363T>C	CCDS41837.1																																																																																				0.627	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		4	75	0	0	0	1	0	4	75				
CACNA1F	778	broad.mit.edu	37	X	49071913	49071913	+	Silent	SNP	G	G	A			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:49071913G>A	ENST00000376265.2	-	28	3421	c.3360C>T	c.(3358-3360)taC>taT	p.Y1120Y	CACNA1F_ENST00000376251.1_Silent_p.Y1055Y|CACNA1F_ENST00000323022.5_Silent_p.Y1109Y	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1120	Dihydropyridine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGATGATGATGTAGACAATGA	0.493																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3358-3360)taC>taT		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						131.0	96.0	108.0					X																	49071913		2203	4300	6503	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49071913G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3360C>T	X.37:g.49071913G>A						CACNA1F_ENST00000323022.5_Silent_p.Y1109Y|CACNA1F_ENST00000376251.1_Silent_p.Y1055Y	p.Y1120Y	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			28	3421	-			1120			Dihydropyridine binding (By similarity).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.3360C>T	CCDS35253.1																																																																																				0.493	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		16	22	0	0	0	1	0	16	22				
MLLT3	4300	broad.mit.edu	37	9	20414331	20414331	+	Silent	SNP	G	G	A	rs10964556		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr9:20414331G>A	ENST00000380338.4	-	5	799	c.513C>T	c.(511-513)agC>agT	p.S171S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S168S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	171	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(511-513)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							11.0	18.0	16.0					9																	20414331		1813	3632	5445	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414331G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.513C>T	9.37:g.20414331G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S168S	p.S171S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	799	-			171			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.513C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	71	0	0	0	1	0	5	71				
MUC16	94025	broad.mit.edu	37	19	9076861	9076861	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr19:9076861C>T	ENST00000397910.4	-	3	10788	c.10585G>A	c.(10585-10587)Gac>Aac	p.D3529N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3530	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTTACGTCCAGGATGCTC	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(10585-10587)Gac>Aac		mucin 16, cell surface associated							243.0	232.0	236.0					19																	9076861		2130	4222	6352	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076861C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10585G>A	19.37:g.9076861C>T	ENSP00000381008:p.Asp3529Asn						p.D3529N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	10788	-			3530			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10585G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.137	-0.397659	0.04899	.	.	ENSG00000181143	ENST00000397910	T	0.02944	4.1	1.76	-3.51	0.04696	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.41875	-0.9484	8	0.87932	D	0	.	8.1048	0.30879	0.0:0.491:0.0:0.509	.	3529	B5ME49	.	N	3529	ENSP00000381008:D3529N	ENSP00000381008:D3529N	D	-	1	0	MUC16	8937861	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.257000	0.08745	-1.643000	0.01519	-1.786000	0.00637	GAC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		46	173	0	0	0	1	0	46	173				
RANBP2	5903	broad.mit.edu	37	2	109384207	109384207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr2:109384207G>A	ENST00000283195.6	+	20	7338	c.7212G>A	c.(7210-7212)tgG>tgA	p.W2404*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2404	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TATGGTTGTGGACTGCATGTG	0.368																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(7210-7212)tgG>tgA		RAN binding protein 2							157.0	181.0	173.0					2																	109384207		2137	4113	6250	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384207G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7212G>A	2.37:g.109384207G>A	ENSP00000283195:p.Trp2404*						p.W2404*	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	7338	+			2404			RanBD1 3.		Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.7212G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	47	13.663651	0.99756	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4201	19.698	0.96034	0.0:0.0:1.0:0.0	.	.	.	.	X	1428;2404	.	ENSP00000283195:W2404X	W	+	3	0	RANBP2	108750639	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.813000	0.99286	2.736000	0.93811	0.305000	0.20034	TGG		0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		50	831	0	0	0	1	0	50	831				
ZBTB14	7541	broad.mit.edu	37	18	5291780	5291780	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr18:5291780T>G	ENST00000357006.4	-	4	765	c.427A>C	c.(427-429)Aag>Cag	p.K143Q	ZBTB14_ENST00000400143.3_Missense_Mutation_p.K143Q	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	143					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										AGGCAATACTTACTTTTGGAC	0.448																																						ENST00000357006.4																			0											c.(427-429)Aag>Cag		zinc finger and BTB domain containing 14							136.0	136.0	136.0					18																	5291780		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5291780T>G	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.427A>C	18.37:g.5291780T>G	ENSP00000349503:p.Lys143Gln					ZBTB14_ENST00000400143.3_Missense_Mutation_p.K143Q	p.K143Q	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	765	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.427A>C	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233640	0.58886	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.09911	2.93;2.93	6.07	6.07	0.98685	.	0.138892	0.47852	D	0.000211	T	0.14830	0.0358	N	0.19112	0.55	0.53688	D	0.999975	P	0.51653	0.947	P	0.55965	0.788	T	0.23332	-1.0191	10	0.15066	T	0.55	-27.2317	16.6288	0.85011	0.0:0.0:0.0:1.0	.	143	O43829	ZF161_HUMAN	Q	143	ENSP00000349503:K143Q;ENSP00000383009:K143Q	ENSP00000349503:K143Q	K	-	1	0	ZFP161	5281780	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.586000	0.46119	2.326000	0.78906	0.533000	0.62120	AAG		0.448	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		47	136	0	0	0	1	0	47	136				
ZNF613	79898	broad.mit.edu	37	19	52448551	52448551	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr19:52448551T>G	ENST00000293471.6	+	6	2094	c.1415T>G	c.(1414-1416)aTt>aGt	p.I472S	ZNF613_ENST00000391794.4_Missense_Mutation_p.I436S|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCAGGTCTCATTAACCACCAG	0.423																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1414-1416)aTt>aGt		zinc finger protein 613							79.0	72.0	75.0					19																	52448551		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448551T>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1415T>G	19.37:g.52448551T>G	ENSP00000293471:p.Ile472Ser					ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.I436S	p.I472S	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	2094	+		all_neural(266;0.117)	472					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1415T>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.187703	0.38609	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.06768	3.26;3.26	3.36	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002298	T	0.11623	0.0283	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.72625	0.978	T	0.03981	-1.0987	10	0.59425	D	0.04	.	5.5818	0.17254	0.0:0.2048:0.0:0.7952	.	472	Q6PF04	ZN613_HUMAN	S	472;436;146	ENSP00000293471:I472S;ENSP00000375671:I436S	ENSP00000293471:I472S	I	+	2	0	ZNF613	57140363	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.765000	0.04730	1.543000	0.49345	0.533000	0.62120	ATT		0.423	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		40	53	0	0	0	1	0	40	53				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		7	82	0	0	0	1	0	7	82				
TMEM208	29100	broad.mit.edu	37	16	67262480	67262480	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr16:67262480A>G	ENST00000304800.9	+	4	351	c.245A>G	c.(244-246)gAt>gGt	p.D82G	TMEM208_ENST00000565201.1_Missense_Mutation_p.D82G|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000393992.1_5'Flank|TMEM208_ENST00000563426.1_3'UTR|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000409509.1_5'Flank|TMEM208_ENST00000563953.1_Missense_Mutation_p.D12G	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	82			D -> Y (in dbSNP:rs17851038). {ECO:0000269|PubMed:15489334}.		autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTCTCTGAGGATGGGGCCCTG	0.622																																						ENST00000563953.1																			0				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(34-36)gAt>gGt		transmembrane protein 208							51.0	54.0	53.0					16																	67262480		2154	4255	6409	SO:0001583	missense	29100					integral to membrane		g.chr16:67262480A>G		CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.245A>G	16.37:g.67262480A>G	ENSP00000305892:p.Asp82Gly					TMEM208_ENST00000565201.1_Missense_Mutation_p.D82G|TMEM208_ENST00000304800.9_Missense_Mutation_p.D82G|TMEM208_ENST00000563426.1_3'UTR	p.D12G			Q9BTX3	TM208_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	4	461	+		Ovarian(137;0.0563)	82					Q05CT0|Q96D25|Q9NZZ7	Missense_Mutation	SNP	ENST00000304800.9	37	c.35A>G	CCDS45511.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007852	0.54361	.	.	ENSG00000168701	ENST00000304800	T	0.31510	1.49	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	L	0.50333	1.59	0.80722	D	1	B	0.22346	0.068	B	0.24006	0.05	T	0.05338	-1.0891	10	0.29301	T	0.29	.	14.003	0.64444	1.0:0.0:0.0:0.0	.	82	Q9BTX3	TM208_HUMAN	G	82	ENSP00000305892:D82G	ENSP00000305892:D82G	D	+	2	0	TMEM208	65819981	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.288000	0.89921	1.991000	0.58162	0.459000	0.35465	GAT		0.622	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2	NM_014187		15	14	0	0	0	1	0	15	14				
CDC42BPA	8476	broad.mit.edu	37	1	227333333	227333333	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr1:227333333T>C	ENST00000366769.3	-	8	2291	c.1000A>G	c.(1000-1002)Ata>Gta	p.I334V	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I334V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAGTCTTCTATTCCATTTTGA	0.393																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(1000-1002)Ata>Gta		CDC42 binding protein kinase alpha (DMPK-like)							121.0	115.0	117.0					1																	227333333		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227333333T>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1000A>G	1.37:g.227333333T>C	ENSP00000355731:p.Ile334Val					CDC42BPA_ENST00000535525.1_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I334V	p.I334V	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			8	2291	-		all_cancers(173;0.156)|Prostate(94;0.0792)	334			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.1000A>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595539	0.66219	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.93	5.93	0.95920	.	0.086471	0.85682	D	0.000000	T	0.25975	0.0633	N	0.02539	-0.55	0.80722	D	1	P;B;P;B	0.44044	0.825;0.206;0.825;0.043	P;B;P;B	0.45506	0.483;0.057;0.483;0.028	T	0.27971	-1.0058	10	0.23891	T	0.37	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	334;334;334;334	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	V	334	ENSP00000355731:I334V;ENSP00000355729:I334V;ENSP00000335341:I334V;ENSP00000355728:I334V;ENSP00000355726:I334V;ENSP00000443275:I334V;ENSP00000355727:I334V	ENSP00000335341:I334V	I	-	1	0	CDC42BPA	225399956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	ATA		0.393	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		58	89	0	0	0	1	0	58	89				
KRT16P6	353194	broad.mit.edu	37	17	16723346	16723346	+	RNA	SNP	C	C	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr17:16723346C>T	ENST00000417510.1	-	0	773																											GTCCAGCACCCCAGCACCTGG	0.557																																						ENST00000417510.1																			0																																																			353194							g.chr17:16723346C>T																													17.37:g.16723346C>T														0	773	-									RNA	SNP	ENST00000417510.1	37																																																																																						0.557	AC022596.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131123.1			33	208	0	0	0	1	0	33	208				
FRMPD4	9758	broad.mit.edu	37	X	12712508	12712508	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:12712508G>A	ENST00000380682.1	+	9	1374	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	290	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AATTAGCTTCGTCCCAAAAGA	0.413																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(868-870)Gtc>Atc		FERM and PDZ domain containing 4							147.0	113.0	124.0					X																	12712508		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12712508G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.868G>A	X.37:g.12712508G>A	ENSP00000370057:p.Val290Ile						p.V290I	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			9	1374	+			290			FERM.		A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.868G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440245	0.43326	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06068	3.35	5.15	3.36	0.38483	Band 4.1 domain (1);FERM domain (1);	0.135275	0.48286	D	0.000188	T	0.05547	0.0146	N	0.19112	0.55	0.28983	N	0.888546	P;B	0.48764	0.915;0.341	P;B	0.45276	0.475;0.06	T	0.18681	-1.0329	10	0.39692	T	0.17	.	9.521	0.39135	0.0764:0.0:0.7811:0.1425	.	282;290	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	I	290;281;279	ENSP00000370057:V290I	ENSP00000304583:V279I	V	+	1	0	FRMPD4	12622429	1.000000	0.71417	0.921000	0.36526	0.912000	0.54170	3.437000	0.52863	0.486000	0.27676	-0.237000	0.12165	GTC		0.413	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		30	83	0	0	0	1	0	30	83				
ZNF516	9658	broad.mit.edu	37	18	74091638	74091638	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr18:74091638G>A	ENST00000443185.2	-	4	2749	c.2432C>T	c.(2431-2433)tCc>tTc	p.S811F	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	811					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCCGCTCCGGGAAAGGAAAAC	0.612																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2431-2433)tCc>tTc		zinc finger protein 516							36.0	43.0	41.0					18																	74091638		1984	4153	6137	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091638G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2432C>T	18.37:g.74091638G>A	ENSP00000394757:p.Ser811Phe					ZNF516_ENST00000524431.2_5'UTR	p.S811F	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2749	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	811						Missense_Mutation	SNP	ENST00000443185.2	37	c.2432C>T		.	.	.	.	.	.	.	.	.	.	G	7.357	0.624007	0.14193	.	.	ENSG00000101493	ENST00000443185	T	0.10099	2.91	4.31	2.36	0.29203	.	0.637161	0.15461	N	0.261114	T	0.08846	0.0219	.	.	.	0.09310	N	1	B	0.28971	0.229	B	0.25884	0.064	T	0.24119	-1.0169	9	0.87932	D	0	-8.2587	8.2188	0.31528	0.2011:0.0:0.7989:0.0	.	811	Q92618	ZN516_HUMAN	F	811	ENSP00000394757:S811F	ENSP00000394757:S811F	S	-	2	0	ZNF516	72220626	1.000000	0.71417	0.002000	0.10522	0.260000	0.26232	4.823000	0.62694	0.466000	0.27193	-0.258000	0.10820	TCC		0.612	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		29	30	0	0	0	1	0	29	30				
GOLGA4	2803	broad.mit.edu	37	3	37366507	37366507	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr3:37366507A>T	ENST00000361924.2	+	14	3504	c.3130A>T	c.(3130-3132)Ata>Tta	p.I1044L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.I1066L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1044	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAATGATGTCATATCAATCTG	0.378																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3130-3132)Ata>Tta		golgin A4							65.0	63.0	64.0					3																	37366507		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37366507A>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3130A>T	3.37:g.37366507A>T	ENSP00000354486:p.Ile1044Leu					GOLGA4_ENST00000356847.4_Missense_Mutation_p.I1066L|GOLGA4_ENST00000444882.1_Intron	p.I1044L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	3504	+			1044			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3130A>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	4.261	0.047587	0.08243	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.22743	1.95;1.94;1.95	5.42	-3.23	0.05109	.	0.191634	0.25717	N	0.028778	T	0.14313	0.0346	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.15930	0.015;0.015;0.004;0.005	B;B;B;B	0.15484	0.013;0.008;0.008;0.003	T	0.23691	-1.0181	10	0.27785	T	0.31	.	13.8517	0.63501	0.5112:0.0:0.4888:0.0	.	1044;1044;1066;1044	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	L	1044;1066;915	ENSP00000354486:I1044L;ENSP00000349305:I1066L;ENSP00000405842:I915L	ENSP00000349305:I1066L	I	+	1	0	GOLGA4	37341511	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	0.017000	0.13399	-0.459000	0.07013	-1.054000	0.02325	ATA		0.378	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		21	15	0	0	0	1	0	21	15				
TUBB4A	10382	broad.mit.edu	37	19	6495551	6495551	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr19:6495551C>T	ENST00000264071.2	-	4	1330	c.959G>A	c.(958-960)cGc>cAc	p.R320H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	320					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CATGGACATGCGGCCCCGGAA	0.637																																						ENST00000264071.2																			0											c.(958-960)cGc>cAc		tubulin, beta 4A class IVa							114.0	97.0	103.0					19																	6495551		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495551C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.959G>A	19.37:g.6495551C>T	ENSP00000264071:p.Arg320His					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H	p.R320H			P04350	TBB4_HUMAN			4	1330	-			320					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.959G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373060	0.42105	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.84298	-1.83;-1.83	3.43	3.43	0.39272	.	0.000000	0.64402	D	0.000001	D	0.82852	0.5127	M	0.64630	1.985	0.52501	D	0.999955	B	0.12630	0.006	B	0.10450	0.005	T	0.82285	-0.0533	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	320	P04350	TBB4A_HUMAN	H	320;320;238	ENSP00000264071:R320H;ENSP00000443590:R320H	ENSP00000264071:R320H	R	-	2	0	TUBB4	6446551	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.580000	0.82523	1.473000	0.48159	0.306000	0.20318	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		5	192	0	0	0	1	0	5	192				
ADAMTS18	170692	broad.mit.edu	37	16	77331217	77331217	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr16:77331217T>G	ENST00000282849.5	-	18	3188	c.2770A>C	c.(2770-2772)Aaa>Caa	p.K924Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	924					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTGCAGATTTTGGGCTCAGTT	0.398																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2770-2772)Aaa>Caa		ADAM metallopeptidase with thrombospondin type 1 motif, 18							184.0	177.0	179.0					16																	77331217		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77331217T>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2770A>C	16.37:g.77331217T>G	ENSP00000282849:p.Lys924Gln						p.K924Q	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			18	3188	-			924					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2770A>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.189467	0.38707	.	.	ENSG00000140873	ENST00000282849	T	0.59906	0.23	6.06	4.91	0.64330	.	0.227432	0.44285	D	0.000468	T	0.40767	0.1130	N	0.17248	0.465	0.35995	D	0.836999	B;B	0.22909	0.077;0.005	B;B	0.21151	0.033;0.004	T	0.45293	-0.9271	10	0.24483	T	0.36	.	14.0093	0.64486	0.0:0.0:0.1338:0.8662	.	924;924	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	Q	924	ENSP00000282849:K924Q	ENSP00000282849:K924Q	K	-	1	0	ADAMTS18	75888718	1.000000	0.71417	0.985000	0.45067	0.897000	0.52465	4.489000	0.60309	2.315000	0.78130	0.533000	0.62120	AAA		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			4	97	0	0	0	1	0	4	97				
LATS2	26524	broad.mit.edu	37	13	21555612	21555612	+	Silent	SNP	G	G	T			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr13:21555612G>T	ENST00000382592.4	-	6	3063	c.2658C>A	c.(2656-2658)ctC>ctA	p.L886L	LATS2_ENST00000542899.1_Silent_p.L886L	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TACCTTTGCGGAGGAGCACCT	0.607																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(2656-2658)ctC>ctA		large tumor suppressor kinase 2							70.0	57.0	61.0					13																	21555612		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21555612G>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2658C>A	13.37:g.21555612G>T						LATS2_ENST00000542899.1_Silent_p.L886L	p.L886L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	6	3063	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	886			Protein kinase.			Silent	SNP	ENST00000382592.4	37	c.2658C>A	CCDS9294.1																																																																																				0.607	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			13	28	1	0	7.07596e-05	1	7.68247e-05	13	28				
LOC101928372	101928372	broad.mit.edu	37	1	160905974	160905975	+	lincRNA	INS	-	-	T	rs368373384|rs199763791	byFrequency	TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr1:160905974_160905975insT	ENST00000427339.1	-	0	0				RP11-544M22.1_ENST00000356006.3_RNA																							tcttcttcttcttttttttttt	0.391																																						ENST00000356006.3																			0																																																			101928372							g.chr1:160905974_160905975insT																													1.37:g.160905985_160905985dupT														0	629	+									RNA	INS	ENST00000427339.1	37																																																																																						0.391	RP11-312J18.6-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000071456.1			3	5						3	5	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104307131	104307133	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr9:104307131_104307133delTCT	ENST00000389120.3	+	6	801_803	c.711_713delTCT	c.(709-714)gatctt>gat	p.L239del		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	239					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AATTGACAGATCTTCTTCAGGAA	0.458																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(709-714)gat>ga		ring finger protein 20, E3 ubiquitin protein ligase				0,4264		0,0,2132						5.9	1.0			147	1,8251		0,1,4125	no	coding	RNF20	NM_019592.5		0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12515				SO:0001651	inframe_deletion	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104307131_104307133delTCT	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.711_713delTCT	9.37:g.104307134_104307136delTCT	ENSP00000373772:p.Leu239del						p.DL237del	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	6	801_803	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	237					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	In_Frame_Del	DEL	ENST00000389120.3	37	c.711_713delTCT	CCDS35084.1																																																																																				0.458	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		54	93						54	93	---	---	---	---
BCL2L2	599	broad.mit.edu	37	14	23778132	23778132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr14:23778132delG	ENST00000250405.5	+	4	769	c.540delG	c.(538-540)ctgfs	p.L180fs	BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	180					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CCGTGGCACTGGGGGCCCTGG	0.652																																						ENST00000250405.5																			0				central_nervous_system(1)|lung(4)|prostate(1)	6						c.(538-540)ctfs		BCL2-like 2							38.0	46.0	44.0					14																	23778132		2203	4300	6503	SO:0001589	frameshift_variant	599							g.chr14:23778132delG	D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	995	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 51"""	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.540delG	14.37:g.23778132delG	ENSP00000250405:p.Leu180fs					BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron	p.L180fs	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041.1				GBM - Glioblastoma multiforme(265;0.00654)	4	769	+	all_cancers(95;5.54e-06)							A8K0F4|Q2M3U0|Q5U0H4	Frame_Shift_Del	DEL	ENST00000250405.5	37	c.540delG	CCDS9591.1																																																																																				0.652	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071763.3	NM_004050		16	74						16	74	---	---	---	---
SCARNA15	677778	broad.mit.edu	37	20	41933319	41933319	+	RNA	DEL	A	A	-	rs570251544|rs79619980	byFrequency	TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr20:41933319delA	ENST00000516384.1	+	0	125									small Cajal body-specific RNA 15																		TATCaatagcaaaaaaaaaaa	0.318													|||unknown(HR)	672	0.134185	0.115	0.1556	5008	,	,		15276	0.1161		0.1431	False		,,,				2504	0.1544					ENST00000516384.1																			0																																																			677778							g.chr20:41933319delA	AJ609485		15q25.2	2013-09-05			ENSG00000252690	ENSG00000252690		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32572	non-coding RNA	RNA, small nucleolar		612675					Standard	NR_003011		Approved	ACA45	uc002bjc.3				20.37:g.41933319delA														0	125	+									RNA	DEL	ENST00000516384.1	37																																																																																						0.318	SCARNA15.1-201	NOVEL	basic	snoRNA	snoRNA		NR_003011		2	4						2	4	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52558052	52558052	+	IGR	DEL	T	T	-			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr20:52558052delT	ENST00000395961.3	-	0	3303				AC005220.3_ENST00000450473.1_RNA|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K597fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GAAGACACACTTCCCTGTGTA	0.403																																						ENST00000371440.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1789-1791)agfs		breast carcinoma amplified sequence 1							6.0	5.0	5.0					20																	52558052		850	1920	2770	SO:0001628	intergenic_variant	8537					cytoplasm	protein binding	g.chr20:52558052delT	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772		20.37:g.52558052delT						AC005220.3_ENST00000450473.1_RNA	p.K597fs			O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		12	2127	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		0					A0AVG5|Q68CZ3	Frame_Shift_Del	DEL	ENST00000395961.3	37	c.1790delA	CCDS13444.1																																																																																				0.403	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		2	4						2	4	---	---	---	---
