#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TEX15	56154	broad.mit.edu	37	8	30694875	30694875	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:30694875C>T	ENST00000256246.2	-	3	7850	c.7776G>A	c.(7774-7776)gtG>gtA	p.V2592V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2592					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGTATGCACAGTATTGG	0.378																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7774-7776)gtG>gtA		Homo sapiens testis expressed 15 (TEX15), mRNA.							94.0	92.0	93.0					8																	30694875		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30694875C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7776G>A	8.37:g.30694875C>T			Somatic					p.V2592V	NM_031271	NP_112561	WXS	Illumina GAIIx	Phase_I	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	2	7776	-			2592						Silent	SNP	ENST00000256246.2	37	c.7776G>A	CCDS6080.1																																																																																				0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			61	100	0	0	0	1	0	61	100				
PIK3CG	5294	broad.mit.edu	37	7	106509419	106509419	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:106509419C>A	ENST00000359195.3	+	2	1723	c.1413C>A	c.(1411-1413)caC>caA	p.H471Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.H471Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H471Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	471	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATAGACCACCGTTTCCTCC	0.532																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1411-1413)caC>caA		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							111.0	106.0	108.0					7																	106509419		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509419C>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1413C>A	7.37:g.106509419C>A	ENSP00000352121:p.His471Gln		Somatic				PIK3CG_uc003vdu.3_Missense_Mutation_p.H471Q|PIK3CG_uc003vdw.3_Missense_Mutation_p.H471Q	p.H471Q	NM_002649	NP_002640	WXS	Illumina GAIIx	Phase_I	P48736	PK3CG_HUMAN			1	1498	+			471					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1413C>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312499	0.60414	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.77229	-1.08;-1.08;-1.08	6.02	5.13	0.70059	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.85182	0.5638	M	0.69823	2.125	0.80722	D	1	P	0.52316	0.952	P	0.58331	0.837	D	0.85891	0.1428	10	0.49607	T	0.09	-37.4831	15.5857	0.76479	0.0:0.9336:0.0:0.0664	.	471	P48736	PK3CG_HUMAN	Q	471	ENSP00000392258:H471Q;ENSP00000419260:H471Q;ENSP00000352121:H471Q	ENSP00000352121:H471Q	H	+	3	2	PIK3CG	106296655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.648000	0.46647	1.537000	0.49254	0.655000	0.94253	CAC		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			46	75	0	0	0	1	0	46	75				
DOCK4	9732	broad.mit.edu	37	7	111484884	111484884	+	Silent	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:111484884A>G	ENST00000437633.1	-	25	2927	c.2671T>C	c.(2671-2673)Ttg>Ctg	p.L891L	DOCK4_ENST00000428084.1_Silent_p.L891L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	891					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGATCTCCAATATGGTCCTC	0.463																																						uc003vfy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2671-2673)Ttg>Ctg		Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.							149.0	148.0	148.0					7																	111484884		1977	4169	6146	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	g.chr7:111484884A>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2671T>C	7.37:g.111484884A>G			Somatic				DOCK4_uc003vfw.3_Silent_p.L332L|DOCK4_uc003vfx.3_Silent_p.L891L	p.L891L	NM_014705	NP_055520	WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			24	2940	-		Acute lymphoblastic leukemia(1;0.0441)	891					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2671T>C	CCDS47688.1																																																																																				0.463	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		9	174	0	0	0	1	0	9	174				
DNASE1L3	1776	broad.mit.edu	37	3	58196616	58196616	+	Silent	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:58196616G>C	ENST00000394549.2	-	1	334	c.18C>G	c.(16-18)gcC>gcG	p.A6A	DNASE1L3_ENST00000486455.1_Silent_p.A6A|DNASE1L3_ENST00000318316.3_Silent_p.A6A|DNASE1L3_ENST00000483681.1_Silent_p.A6A	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	6					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCAGCAGTGGGGCCAGCTCCC	0.587																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	uc003djo.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(16-18)gcC>gcG		Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.							100.0	91.0	94.0					3																	58196616		2203	4300	6503	SO:0001819	synonymous_variant	1776				DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58196616G>C	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.18C>G	3.37:g.58196616G>C			Somatic				DNASE1L3_uc011bfd.1_Silent_p.A6A|DNASE1L3_uc003djp.1_Silent_p.A6A|DNASE1L3_uc003djq.1_Silent_p.A6A	p.A6A	NM_004944	NP_004935	WXS	Illumina GAIIx	Phase_I	Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	0	115	-			6					B2R8B1|B7Z707|O75803	Silent	SNP	ENST00000394549.2	37	c.18C>G	CCDS2886.1																																																																																				0.587	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		36	57	0	0	0	1	0	36	57				
ZFAND1	79752	broad.mit.edu	37	8	82614952	82614952	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:82614952T>A	ENST00000220669.5	-	8	803	c.785A>T	c.(784-786)aAt>aTt	p.N262I	ZFAND1_ENST00000521287.1_Missense_Mutation_p.N155I|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000523096.1_Missense_Mutation_p.N255I|ZFAND1_ENST00000521895.1_3'UTR|ZFAND1_ENST00000522520.1_Missense_Mutation_p.N155I	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	262							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGATTCAACATTTTTACAGAA	0.294																																						uc003ycj.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(784-786)aAt>aTt		Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.							56.0	60.0	59.0					8																	82614952		2201	4294	6495	SO:0001583	missense	79752						zinc ion binding	g.chr8:82614952T>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.785A>T	8.37:g.82614952T>A	ENSP00000220669:p.Asn262Ile		Somatic				ZFAND1_uc010lzx.2_Missense_Mutation_p.N255I|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Missense_Mutation_p.N155I|ZFAND1_uc003yck.2_Missense_Mutation_p.N155I	p.N262I	NM_024699	NP_078975	WXS	Illumina GAIIx	Phase_I	Q8TCF1	ZFAN1_HUMAN			7	808	-			262					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	c.785A>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.042653	0.55003	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521287	.	.	.	5.62	5.62	0.85841	.	0.202886	0.49916	D	0.000128	T	0.54191	0.1843	L	0.36672	1.1	0.80722	D	1	P;P	0.44478	0.836;0.836	B;B	0.44224	0.444;0.444	T	0.60052	-0.7338	9	0.87932	D	0	.	15.8121	0.78573	0.0:0.0:0.0:1.0	.	255;262	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	I	255;262;155;155	.	ENSP00000220669:N262I	N	-	2	0	ZFAND1	82777507	1.000000	0.71417	0.965000	0.40720	0.195000	0.23768	6.826000	0.75298	2.146000	0.66826	0.397000	0.26171	AAT		0.294	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		48	73	0	0	0	1	0	48	73				
TBC1D25	4943	broad.mit.edu	37	X	48403341	48403341	+	Silent	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chrX:48403341C>A	ENST00000376771.4	+	3	659	c.318C>A	c.(316-318)ctC>ctA	p.L106L	TBC1D25_ENST00000476141.1_Intron|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	106					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTGGGACCTCAGCACAGCCT	0.562																																						uc011mmb.1																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(328-330)ctC>ctA		Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.							102.0	82.0	89.0					X																	48403341		2203	4300	6503	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48403341C>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.318C>A	X.37:g.48403341C>A			Somatic				TBC1D25_uc004dka.1_Silent_p.L106L|TBC1D25_uc011mly.1_Silent_p.L48L|TBC1D25_uc004dkb.1_Intron|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_Intron|TBC1D25_uc011mmd.1_5'UTR|TBC1D25_uc011mmc.1_Intron	p.L110L	NM_002536	NP_002527	WXS	Illumina GAIIx	Phase_I	Q3MII6	TBC25_HUMAN			2	416	+			106					Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.330C>A	CCDS35242.1																																																																																				0.562	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		3	34	0	0	0	1	0	3	34				
TMPO	7112	broad.mit.edu	37	12	98927427	98927427	+	Intron	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:98927427T>C	ENST00000556029.1	+	3	921				TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Silent_p.V464V|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAAAACTGTTGTCTCTCATT	0.423																																						uc001tfh.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1390-1392)gtT>gtC		Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.							160.0	134.0	143.0					12																	98927427		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927427T>C		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1811T>C	12.37:g.98927427T>C			Somatic				TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	p.V464V	NM_003276	NP_003267	WXS	Illumina GAIIx	Phase_I	P42167	LAP2B_HUMAN			3	1687	+			0					A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.1392T>C	CCDS31879.1																																																																																				0.423	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		37	57	0	0	0	1	0	37	57				
VSIG2	23584	broad.mit.edu	37	11	124618648	124618648	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:124618648C>T	ENST00000326621.5	-	5	698	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	RP11-677M14.2_ENST00000531241.1_RNA|VSIG2_ENST00000403470.1_Missense_Mutation_p.G200S	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	200	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ATGAGCTGGCCAGACACCTCA	0.537																																						uc001qas.3																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(598-600)Ggc>Agc		Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.							152.0	124.0	133.0					11																	124618648		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124618648C>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.598G>A	11.37:g.124618648C>T	ENSP00000318684:p.Gly200Ser		Somatic				VSIG2_uc001qat.3_Missense_Mutation_p.G200S	p.G200S	NM_014312	NP_055127	WXS	Illumina GAIIx	Phase_I	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	4	674	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	200			Ig-like C2-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.598G>A	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974024	0.92919	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.12774	2.65;2.65	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.38957	0.1060	M	0.77486	2.375	0.46798	D	0.999208	D	0.89917	1.0	D	0.91635	0.999	T	0.09250	-1.0683	10	0.66056	D	0.02	.	14.6271	0.68629	0.0:1.0:0.0:0.0	.	200	Q96IQ7	VSIG2_HUMAN	S	200	ENSP00000318684:G200S;ENSP00000385013:G200S	ENSP00000318684:G200S	G	-	1	0	VSIG2	124123858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.370000	0.59517	2.835000	0.97688	0.591000	0.81541	GGC		0.537	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		19	28	0	0	0	1	0	19	28				
CCDC39	339829	broad.mit.edu	37	3	180334307	180334307	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:180334307T>C	ENST00000442201.2	-	18	2702	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	861					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTATTACCTGTTGAAAGTATG	0.264																																						uc010hxe.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2581-2583)caA>caG		Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.							44.0	40.0	41.0					3																	180334307		1803	4064	5867	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334307T>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2583A>G	3.37:g.180334307T>C			Somatic				CCDC39_uc003fkn.3_Non-coding_Transcript|TTC14_uc003fkm.2_Intron	p.Q861Q	NM_181426	NP_852091	WXS	Illumina GAIIx	Phase_I	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		17	2698	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		861					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.2583A>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	8.383	0.837891	0.16891	.	.	ENSG00000145075	ENST00000473854	.	.	.	5.37	-0.35	0.12606	.	.	.	.	.	T	0.44993	0.1320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	4.2205	0.10556	0.119:0.4781:0.1361:0.2669	.	.	.	.	S	45	.	.	N	-	2	0	CCDC39	181817001	0.956000	0.32656	0.946000	0.38457	0.981000	0.71138	0.011000	0.13264	-0.181000	0.10619	0.455000	0.32223	AAC		0.264	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		24	30	0	0	0	1	0	24	30				
DBT	1629	broad.mit.edu	37	1	100681607	100681607	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:100681607A>G	ENST00000370132.4	-	6	717	c.704T>C	c.(703-705)aTg>aCg	p.M235T	DBT_ENST00000370131.3_Missense_Mutation_p.M235T	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	235					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGGAACAGTCATGTCTTTTGG	0.373																																						uc001dta.3																			0		p.M235I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(703-705)aTg>aCg		Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.							267.0	263.0	264.0					1																	100681607		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100681607A>G	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.704T>C	1.37:g.100681607A>G	ENSP00000359151:p.Met235Thr		Somatic				DBT_uc010oug.2_Missense_Mutation_p.M54T|DBT_uc021oqo.1_Missense_Mutation_p.M235T	p.M235T	NM_001918	NP_001909	WXS	Illumina GAIIx	Phase_I	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	5	737	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	235					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.704T>C	CCDS767.1	.	.	.	.	.	.	.	.	.	.	a	8.818	0.936917	0.18206	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.27720	1.65;1.65	5.66	-2.48	0.06423	.	0.896444	0.09845	N	0.748330	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45716	-0.9242	10	0.13853	T	0.58	-3.6242	7.8301	0.29338	0.1473:0.1469:0.0:0.7059	.	54;235	F5H1F9;P11182	.;ODB2_HUMAN	T	54;235;235	ENSP00000359151:M235T;ENSP00000359150:M235T	ENSP00000359150:M235T	M	-	2	0	DBT	100454195	0.000000	0.05858	0.034000	0.17996	0.551000	0.35334	-0.006000	0.12833	-0.246000	0.09611	0.524000	0.50904	ATG		0.373	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		114	175	0	0	0	1	0	114	175				
DENND4B	9909	broad.mit.edu	37	1	153906083	153906083	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:153906083C>T	ENST00000361217.4	-	20	3624	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1069					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGGGAGTGGCGGGAAGGAGT	0.711																																						uc001fdd.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3205-3207)cGc>cAc		Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.							7.0	10.0	9.0					1																	153906083		1918	4044	5962	SO:0001583	missense	9909							g.chr1:153906083C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3206G>A	1.37:g.153906083C>T	ENSP00000354597:p.Arg1069His		Somatic					p.R1069H	NM_014856	NP_055671	WXS	Illumina GAIIx	Phase_I	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		19	3607	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1069					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.3206G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904816	0.52333	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.09255	3.1;3.0	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.03739	0.0106	L	0.29908	0.895	0.50632	D	0.999889	B	0.15473	0.013	B	0.08055	0.003	T	0.29761	-1.0001	10	0.34782	T	0.22	-21.3494	11.6622	0.51354	0.0:0.9152:0.0:0.0848	.	1069	O75064	DEN4B_HUMAN	H	1069;1080	ENSP00000354597:R1069H;ENSP00000357635:R1080H	ENSP00000354597:R1069H	R	-	2	0	DENND4B	152172707	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	1.912000	0.39946	2.690000	0.91761	0.462000	0.41574	CGC		0.711	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		6	11	0	0	0	1	0	6	11				
GPNMB	10457	broad.mit.edu	37	7	23293036	23293036	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:23293036G>T	ENST00000381990.2	+	2	342	c.181G>T	c.(181-183)Gtg>Ttg	p.V61L	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000258733.4_Missense_Mutation_p.V61L|GPNMB_ENST00000453162.2_Missense_Mutation_p.V61L|GPNMB_ENST00000409458.3_Missense_Mutation_p.V61L	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	61					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTACCCAGTGTGGAAGCG	0.433																																						uc003swc.3																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(181-183)Gtg>Ttg		Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.							103.0	104.0	103.0					7																	23293036		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23293036G>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.181G>T	7.37:g.23293036G>T	ENSP00000371420:p.Val61Leu		Somatic				GPNMB_uc003swa.2_Missense_Mutation_p.V61L|GPNMB_uc003swb.3_Missense_Mutation_p.V61L|GPNMB_uc011jyy.2_Missense_Mutation_p.V61L|GPNMB_uc011jyz.2_Intron	p.V61L	NM_001005340	NP_001005340	WXS	Illumina GAIIx	Phase_I	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		1	342	+			61					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.181G>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101360	0.56183	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000453162	T;T;T	0.14766	2.48;2.49;2.49	5.44	3.52	0.40303	.	0.172297	0.38837	N	0.001541	T	0.29882	0.0747	M	0.79805	2.47	0.22317	N	0.999202	P;P;D;P	0.67145	0.749;0.937;0.996;0.949	B;P;D;P	0.76071	0.441;0.506;0.987;0.712	T	0.15235	-1.0444	10	0.23891	T	0.37	-16.5726	3.7904	0.08718	0.0833:0.1178:0.4988:0.3001	.	61;61;61;61	F5GY20;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	L	61;96;61;61;61	ENSP00000258733:V61L;ENSP00000371420:V61L;ENSP00000405586:V61L	ENSP00000258733:V61L	V	+	1	0	GPNMB	23259561	0.993000	0.37304	1.000000	0.80357	0.969000	0.65631	1.554000	0.36266	1.280000	0.44463	0.650000	0.86243	GTG		0.433	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		4	80	0	0	0	1	0	4	80				
SLC4A8	9498	broad.mit.edu	37	12	51855027	51855027	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:51855027G>A	ENST00000453097.2	+	9	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	SLC4A8_ENST00000394856.1_Silent_p.Q298Q|SLC4A8_ENST00000514353.3_Silent_p.Q298Q|SLC4A8_ENST00000358657.3_Silent_p.Q378Q|SLC4A8_ENST00000535225.2_Silent_p.Q298Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGAAAGGTCAGCAGTACCATG	0.378																																						uc001rys.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1051-1053)caG>caA		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.							154.0	140.0	145.0					12																	51855027		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51855027G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1053G>A	12.37:g.51855027G>A			Somatic				SLC4A8_uc010sni.2_Silent_p.Q298Q|SLC4A8_uc001rym.3_Silent_p.Q298Q|SLC4A8_uc001ryn.3_Silent_p.Q298Q|SLC4A8_uc001ryo.2_Silent_p.Q298Q|SLC4A8_uc001ryp.1_Silent_p.Q298Q|SLC4A8_uc010snj.2_Silent_p.Q378Q|SLC4A8_uc001ryq.4_Silent_p.Q351Q|SLC4A8_uc001ryr.3_Silent_p.Q351Q|SLC4A8_uc010snk.2_Silent_p.Q298Q	p.Q351Q	NM_001039960	NP_001035049	WXS	Illumina GAIIx	Phase_I	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	8	1231	+			351						Silent	SNP	ENST00000453097.2	37	c.1053G>A	CCDS44890.1																																																																																				0.378	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		3	54	0	0	0	1	0	3	54				
ZBTB46	140685	broad.mit.edu	37	20	62421407	62421407	+	Missense_Mutation	SNP	G	G	A	rs569028644		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr20:62421407G>A	ENST00000245663.4	-	2	854	c.704C>T	c.(703-705)cCg>cTg	p.P235L	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P235L|ZBTB46_ENST00000302995.2_Missense_Mutation_p.P235L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	235					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGAGACGGTGAAACCTG	0.602																																						uc002ygv.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(703-705)cCg>cTg		Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.							83.0	76.0	78.0					20																	62421407		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421407G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.704C>T	20.37:g.62421407G>A	ENSP00000245663:p.Pro235Leu		Somatic				ZBTB46_uc002ygu.3_Non-coding_Transcript	p.P235L	NM_025224	NP_079500	WXS	Illumina GAIIx	Phase_I	Q86UZ6	ZBT46_HUMAN			1	905	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		235					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.704C>T	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224409	0.58668	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.20069	2.1;2.1;2.1	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08391	-1.0724	10	0.36615	T	0.2	.	19.0349	0.92972	0.0:0.0:1.0:0.0	.	235	Q86UZ6	ZBT46_HUMAN	L	235	ENSP00000245663:P235L;ENSP00000303102:P235L;ENSP00000378536:P235L	ENSP00000245663:P235L	P	-	2	0	ZBTB46	61891851	1.000000	0.71417	0.563000	0.28383	0.014000	0.08584	7.419000	0.80179	2.749000	0.94314	0.655000	0.94253	CCG		0.602	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		3	43	0	0	0	1	0	3	43				
SCN3B	55800	broad.mit.edu	37	11	123513260	123513260	+	Silent	SNP	G	G	A	rs142613556		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:123513260G>A	ENST00000392770.2	-	3	1141	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SCN3B_ENST00000299333.3_Silent_p.N113N|SCN3B_ENST00000530277.1_Silent_p.N113N	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	113	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCCAGAGTCGTTCAGAGTGA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19306	0.001		0.0	False		,,,				2504	0.0					uc001pza.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(337-339)aaC>aaT		Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.		G	,	0,4404		0,0,2202	106.0	99.0	101.0		339,339	-10.3	0.7	11	dbSNP_134	101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SCN3B	NM_001040151.1,NM_018400.3	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	113/216,113/216	123513260	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513260G>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.339C>T	11.37:g.123513260G>A			Somatic				SCN3B_uc001pzb.1_Silent_p.N113N	p.N113N	NM_001040151	NP_060870	WXS	Illumina GAIIx	Phase_I	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	746	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	113			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	c.339C>T	CCDS8442.1																																																																																				0.602	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		5	97	0	0	0	1	0	5	97				
EPPK1	83481	broad.mit.edu	37	8	144940654	144940654	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:144940654G>A	ENST00000525985.1	-	2	6839	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P				P58107	EPIPL_HUMAN	epiplakin 1	2256						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6766-6768)ccC>ccT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							47.0	45.0	46.0					8																	144940654		2171	4256	6427	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940654G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6768C>T	8.37:g.144940654G>A			Somatic					p.P2256P	NM_031308	NP_112598	WXS	Illumina GAIIx	Phase_I	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6781	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2256					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6768C>T																																																																																					0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	39	0	0	0	1	0	3	39				
RERE	473	broad.mit.edu	37	1	8526058	8526058	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:8526058C>T	ENST00000337907.3	-	12	1764	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	RERE_ENST00000377464.1_Missense_Mutation_p.G109D|RERE_ENST00000400907.2_Missense_Mutation_p.G377D|RERE_ENST00000400908.2_Missense_Mutation_p.G377D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	377	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGGGCTTTGCCAGCATCGTA	0.507																																						uc001ape.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1129-1131)gGc>gAc		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.							89.0	74.0	79.0					1																	8526058		2203	4300	6503	SO:0001583	missense	473				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8526058C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1130G>A	1.37:g.8526058C>T	ENSP00000338629:p.Gly377Asp		Somatic				RERE_uc001apf.3_Missense_Mutation_p.G377D|RERE_uc010nzx.1_Missense_Mutation_p.G109D|RERE_uc001aph.1_Missense_Mutation_p.G377D	p.G377D	NM_012102	NP_036234	WXS	Illumina GAIIx	Phase_I	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	11	1940	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	377			ELM2.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.1130G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212001	0.79240	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.98	5.98	0.97165	ELM2 domain (1);Homeodomain-like (1);	.	.	.	.	T	0.60418	0.2267	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53940	-0.8367	9	0.42905	T	0.14	-25.5195	19.4443	0.94840	0.0:1.0:0.0:0.0	.	109;377	B1AKN3;Q9P2R6	.;RERE_HUMAN	D	377;109;377;377	ENSP00000338629:G377D;ENSP00000366684:G109D;ENSP00000383699:G377D;ENSP00000383700:G377D	ENSP00000338629:G377D	G	-	2	0	RERE	8448645	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.484000	0.81180	2.847000	0.97988	0.591000	0.81541	GGC		0.507	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			3	45	0	0	0	1	0	3	45				
MPHOSPH8	54737	broad.mit.edu	37	13	20220952	20220952	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:20220952A>T	ENST00000361479.5	+	3	807	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.K247*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	247	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		agaagatcccaaagaaaatag	0.313																																						uc001umg.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(739-741)Aaa>Taa		Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.							27.0	32.0	30.0					13																	20220952		2126	4249	6375	SO:0001587	stop_gained	54737				cell cycle	cytoplasm|nucleus		g.chr13:20220952A>T	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.739A>T	13.37:g.20220952A>T	ENSP00000355388:p.Lys247*		Somatic				MPHOSPH8_uc001umh.3_Nonsense_Mutation_p.K247*|MPHOSPH8_uc001umi.3_5'UTR	p.K247*	NM_017520	NP_059990	WXS	Illumina GAIIx	Phase_I	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	2	840	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	247			Lys-rich.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Nonsense_Mutation	SNP	ENST00000361479.5	37	c.739A>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	A	38	6.778124	0.97833	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	.	.	.	6.02	6.02	0.97574	.	0.233845	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000355388:K247X	K	+	1	0	MPHOSPH8	19118952	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.108000	0.77055	2.304000	0.77564	0.528000	0.53228	AAA		0.313	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		32	48	0	0	0	1	0	32	48				
C2orf78	388960	broad.mit.edu	37	2	74043556	74043556	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr2:74043556C>T	ENST00000409561.1	+	3	2327	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	736										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACATGTTTCTCGGCGGCCAAA	0.537																																						uc002sjr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(2206-2208)Cgg>Tgg		Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.							199.0	203.0	202.0					2																	74043556		2080	4203	6283	SO:0001583	missense	388960							g.chr2:74043556C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2206C>T	2.37:g.74043556C>T	ENSP00000387124:p.Arg736Trp		Somatic					p.R736W	NM_001080474	NP_001073943	WXS	Illumina GAIIx	Phase_I	A6NCI8	CB078_HUMAN			2	2327	+			736						Missense_Mutation	SNP	ENST00000409561.1	37	c.2206C>T	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177736	0.57692	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.56776	0.44	5.23	4.36	0.52297	.	0.000000	0.46145	D	0.000316	T	0.70193	0.3196	M	0.79475	2.455	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62941	-0.6747	10	0.87932	D	0	-12.3262	10.1035	0.42519	0.0:0.9067:0.0:0.0933	.	736	A6NCI8	CB078_HUMAN	W	736;706	ENSP00000387124:R736W	ENSP00000340692:R706W	R	+	1	2	C2orf78	73897064	0.593000	0.26840	0.023000	0.16930	0.004000	0.04260	0.496000	0.22499	1.360000	0.45960	-0.253000	0.11424	CGG		0.537	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		8	195	0	0	0	1	0	8	195				
HIST1H2BD	3017	broad.mit.edu	37	6	26158671	26158671	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr6:26158671T>C	ENST00000289316.2	+	1	298	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S92P	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	92					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GACCATCACCTCCAGGGAGAT	0.627																																						uc003ngr.3																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(274-276)Tcc>Ccc		Homo sapiens histone cluster 1, H2bd (HIST1H2BD), transcript variant 1, mRNA.							95.0	101.0	99.0					6																	26158671		2203	4298	6501	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158671T>C	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.274T>C	6.37:g.26158671T>C	ENSP00000289316:p.Ser92Pro		Somatic				HIST1H2BD_uc003ngs.3_Missense_Mutation_p.S92P	p.S92P	NM_021063	NP_619790	WXS	Illumina GAIIx	Phase_I	P58876	H2B1D_HUMAN			0	323	+			92						Missense_Mutation	SNP	ENST00000289316.2	37	c.274T>C	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.734048	0.69189	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.46063	0.88;0.88	5.19	5.19	0.71726	Histone-fold (2);Histone core (1);	0.000000	0.53938	D	0.000052	T	0.39759	0.1090	M	0.88241	2.94	0.44330	D	0.997213	B	0.21688	0.059	B	0.28709	0.093	T	0.52719	-0.8538	10	0.72032	D	0.01	.	11.4472	0.50131	0.1348:0.0:0.0:0.8652	.	92	P58876	H2B1D_HUMAN	P	92	ENSP00000367008:S92P;ENSP00000289316:S92P	ENSP00000289316:S92P	S	+	1	0	HIST1H2BD	26266650	0.999000	0.42202	0.346000	0.25655	0.983000	0.72400	4.233000	0.58651	2.275000	0.75901	0.529000	0.55759	TCC		0.627	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		62	86	0	0	0	1	0	62	86				
ADCY2	108	broad.mit.edu	37	5	7707861	7707861	+	Silent	SNP	C	C	T	rs112493968	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr5:7707861C>T	ENST00000338316.4	+	9	1400	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.G257G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	437					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTGAATGGCGCTTATAAAG	0.413													C|||	10	0.00199681	0.0068	0.0	5008	,	,		17267	0.001		0.0	False		,,,				2504	0.0					uc003jdz.1																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1309-1311)ggC>ggT		Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.		C		17,4389	25.3+/-52.1	0,17,2186	126.0	126.0	126.0		1311	-11.3	0.5	5	dbSNP_132	126	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADCY2	NM_020546.2		0,19,6484	TT,TC,CC		0.0233,0.3858,0.1461		437/1092	7707861	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7707861C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1311C>T	5.37:g.7707861C>T			Somatic				ADCY2_uc011cmo.1_Silent_p.G257G	p.G437G	NM_020546	NP_065433	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			8	1378	+			437					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1311C>T	CCDS3872.2																																																																																				0.413	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		49	80	0	0	0	1	0	49	80				
SZT2	23334	broad.mit.edu	37	1	43882304	43882304	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:43882304T>G	ENST00000562955.1	+	7	871	c.871T>G	c.(871-873)Ttt>Gtt	p.F291V		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	291					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCTTGTTCCTTTGTCCAGGT	0.483																																						uc009vws.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(871-873)Ttt>Gtt		Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							42.0	36.0	38.0					1																	43882304		876	1991	2867	SO:0001583	missense	23334					peroxisome		g.chr1:43882304T>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.871T>G	1.37:g.43882304T>G	ENSP00000457168:p.Phe291Val		Somatic				SZT2_uc001cjk.2_5'UTR	p.F291V	NM_015284	NP_056099	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			6	955	+			291					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.871T>G	CCDS30694.2																																																																																				0.483	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		12	8	0	0	0	1	0	12	8				
HMCN1	83872	broad.mit.edu	37	1	185969305	185969305	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:185969305G>C	ENST00000271588.4	+	26	4232	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1335Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1335	Ig-like C2-type 10.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAATGGGGAGTACATCTG	0.418																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(4003-4005)Gag>Cag		Homo sapiens hemicentin 1 (HMCN1), mRNA.							136.0	122.0	127.0					1																	185969305		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185969305G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4003G>C	1.37:g.185969305G>C	ENSP00000271588:p.Glu1335Gln		Somatic					p.E1335Q	NM_031935	NP_114141	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			25	4232	+			1335			Ig-like C2-type 10.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4003G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851419	0.71719	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67523	-0.27;-0.27	5.25	4.33	0.51752	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.147231	0.64402	N	0.000013	T	0.60248	0.2254	N	0.21194	0.64	0.52501	D	0.999957	D	0.57571	0.98	P	0.51895	0.683	T	0.55541	-0.8125	10	0.19590	T	0.45	.	13.7888	0.63126	0.0741:0.0:0.9259:0.0	.	1335	Q96RW7	HMCN1_HUMAN	Q	1335	ENSP00000271588:E1335Q;ENSP00000356462:E1335Q	ENSP00000271588:E1335Q	E	+	1	0	HMCN1	184235928	1.000000	0.71417	0.998000	0.56505	0.784000	0.44337	9.188000	0.94921	1.205000	0.43262	0.558000	0.71614	GAG		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		67	68	0	0	0	1	0	67	68				
CEP290	80184	broad.mit.edu	37	12	88514828	88514828	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:88514828C>T	ENST00000552810.1	-	14	1648	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Silent_p.R435R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	435					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TATCCTTTTCCCTAGCATCAG	0.358																																						uc001tar.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1303-1305)agG>agA		Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.							122.0	115.0	117.0					12																	88514828		1852	4086	5938	SO:0001819	synonymous_variant	80184				G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88514828C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1305G>A	12.37:g.88514828C>T			Somatic				CEP290_uc001tat.3_Silent_p.R197R|CEP290_uc009zsl.1_Non-coding_Transcript	p.R435R	NM_025114	NP_079390	WXS	Illumina GAIIx	Phase_I	O15078	CE290_HUMAN			13	1649	-			435					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.1305G>A	CCDS55858.1																																																																																				0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		17	44	0	0	0	1	0	17	44				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	66	0	0	0	1	0	36	66				
SERPINA9	327657	broad.mit.edu	37	14	94936076	94936076	+	Silent	SNP	G	G	A	rs375474833	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr14:94936076G>A	ENST00000380365.3	-	2	180	c.102C>T	c.(100-102)tcC>tcT	p.S34S	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Silent_p.S52S|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000337425.5_Silent_p.S52S|SERPINA9_ENST00000546329.1_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	34					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTTTGTGGAGGAAGGGCGGG	0.562													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17762	0.0		0.0	False		,,,				2504	0.0					uc001ydf.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(154-156)tcC>tcT		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.		G	,	11,4003		0,11,1996	83.0	86.0	85.0		156,156	2.1	0.0	14		85	0,8332		0,0,4166	no	coding-synonymous,coding-synonymous	SERPINA9	NM_001042518.1,NM_175739.3	,	0,11,6162	AA,AG,GG		0.0,0.274,0.0891	,	52/336,52/436	94936076	11,12335	2007	4166	6173	SO:0001819	synonymous_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94936076G>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.102C>T	14.37:g.94936076G>A			Somatic				SERPINA9_uc001yde.3_Silent_p.S52S|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Intron|SERPINA9_uc001ydh.1_Silent_p.S52S|SERPINA9_uc001ydi.1_Intron	p.S52S	NM_175739	NP_783866	WXS	Illumina GAIIx	Phase_I	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	1	317	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	34					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37	c.156C>T																																																																																					0.562	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		27	50	0	0	0	1	0	27	50				
NALCN	259232	broad.mit.edu	37	13	101735461	101735461	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:101735461C>T	ENST00000251127.6	-	32	3753	c.3672G>A	c.(3670-3672)tcG>tcA	p.S1224S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1224					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCAACACCGACTGGGCCA	0.413																																						uc001vox.1																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3670-3672)tcG>tcA		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							128.0	125.0	126.0					13																	101735461		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735461C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3672G>A	13.37:g.101735461C>T			Somatic					p.S1224S	NM_052867	NP_443099	WXS	Illumina GAIIx	Phase_I	Q8IZF0	NALCN_HUMAN			31	3861	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1224					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.3672G>A	CCDS9498.1																																																																																				0.413	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		25	42	0	0	0	1	0	25	42				
TEX15	56154	broad.mit.edu	37	8	30694875	30694875	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr8:30694875C>T	ENST00000256246.2	-	3	7850	c.7776G>A	c.(7774-7776)gtG>gtA	p.V2592V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2592					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGTATGCACAGTATTGG	0.378																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7774-7776)gtG>gtA		Homo sapiens testis expressed 15 (TEX15), mRNA.							94.0	92.0	93.0					8																	30694875		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30694875C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7776G>A	8.37:g.30694875C>T			Somatic					p.V2592V	NM_031271	NP_112561	WXS	Illumina GAIIx	Phase_I	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	2	7776	-			2592						Silent	SNP	ENST00000256246.2	37	c.7776G>A	CCDS6080.1																																																																																				0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			61	100	0	0	0	1	0	61	100				
PIK3CG	5294	broad.mit.edu	37	7	106509419	106509419	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:106509419C>A	ENST00000359195.3	+	2	1723	c.1413C>A	c.(1411-1413)caC>caA	p.H471Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.H471Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H471Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	471	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATAGACCACCGTTTCCTCC	0.532																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1411-1413)caC>caA		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							111.0	106.0	108.0					7																	106509419		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509419C>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1413C>A	7.37:g.106509419C>A	ENSP00000352121:p.His471Gln		Somatic				PIK3CG_uc003vdu.3_Missense_Mutation_p.H471Q|PIK3CG_uc003vdw.3_Missense_Mutation_p.H471Q	p.H471Q	NM_002649	NP_002640	WXS	Illumina GAIIx	Phase_I	P48736	PK3CG_HUMAN			1	1498	+			471					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1413C>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312499	0.60414	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.77229	-1.08;-1.08;-1.08	6.02	5.13	0.70059	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.85182	0.5638	M	0.69823	2.125	0.80722	D	1	P	0.52316	0.952	P	0.58331	0.837	D	0.85891	0.1428	10	0.49607	T	0.09	-37.4831	15.5857	0.76479	0.0:0.9336:0.0:0.0664	.	471	P48736	PK3CG_HUMAN	Q	471	ENSP00000392258:H471Q;ENSP00000419260:H471Q;ENSP00000352121:H471Q	ENSP00000352121:H471Q	H	+	3	2	PIK3CG	106296655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.648000	0.46647	1.537000	0.49254	0.655000	0.94253	CAC		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			46	75	0	0	0	1	0	46	75				
DOCK4	9732	broad.mit.edu	37	7	111484884	111484884	+	Silent	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:111484884A>G	ENST00000437633.1	-	25	2927	c.2671T>C	c.(2671-2673)Ttg>Ctg	p.L891L	DOCK4_ENST00000428084.1_Silent_p.L891L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	891					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGATCTCCAATATGGTCCTC	0.463																																						uc003vfy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2671-2673)Ttg>Ctg		Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.							149.0	148.0	148.0					7																	111484884		1977	4169	6146	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	g.chr7:111484884A>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2671T>C	7.37:g.111484884A>G			Somatic				DOCK4_uc003vfw.3_Silent_p.L332L|DOCK4_uc003vfx.3_Silent_p.L891L	p.L891L	NM_014705	NP_055520	WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			24	2940	-		Acute lymphoblastic leukemia(1;0.0441)	891					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2671T>C	CCDS47688.1																																																																																				0.463	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		9	174	0	0	0	1	0	9	174				
DNASE1L3	1776	broad.mit.edu	37	3	58196616	58196616	+	Silent	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr3:58196616G>C	ENST00000394549.2	-	1	334	c.18C>G	c.(16-18)gcC>gcG	p.A6A	DNASE1L3_ENST00000486455.1_Silent_p.A6A|DNASE1L3_ENST00000318316.3_Silent_p.A6A|DNASE1L3_ENST00000483681.1_Silent_p.A6A	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	6					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCAGCAGTGGGGCCAGCTCCC	0.587																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	uc003djo.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(16-18)gcC>gcG		Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.							100.0	91.0	94.0					3																	58196616		2203	4300	6503	SO:0001819	synonymous_variant	1776				DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58196616G>C	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.18C>G	3.37:g.58196616G>C			Somatic				DNASE1L3_uc011bfd.1_Silent_p.A6A|DNASE1L3_uc003djp.1_Silent_p.A6A|DNASE1L3_uc003djq.1_Silent_p.A6A	p.A6A	NM_004944	NP_004935	WXS	Illumina GAIIx	Phase_I	Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	0	115	-			6					B2R8B1|B7Z707|O75803	Silent	SNP	ENST00000394549.2	37	c.18C>G	CCDS2886.1																																																																																				0.587	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		36	57	0	0	0	1	0	36	57				
ZFAND1	79752	broad.mit.edu	37	8	82614952	82614952	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr8:82614952T>A	ENST00000220669.5	-	8	803	c.785A>T	c.(784-786)aAt>aTt	p.N262I	ZFAND1_ENST00000521287.1_Missense_Mutation_p.N155I|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000523096.1_Missense_Mutation_p.N255I|ZFAND1_ENST00000521895.1_3'UTR|ZFAND1_ENST00000522520.1_Missense_Mutation_p.N155I	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	262							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGATTCAACATTTTTACAGAA	0.294																																						uc003ycj.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(784-786)aAt>aTt		Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.							56.0	60.0	59.0					8																	82614952		2201	4294	6495	SO:0001583	missense	79752						zinc ion binding	g.chr8:82614952T>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.785A>T	8.37:g.82614952T>A	ENSP00000220669:p.Asn262Ile		Somatic				ZFAND1_uc010lzx.2_Missense_Mutation_p.N255I|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Missense_Mutation_p.N155I|ZFAND1_uc003yck.2_Missense_Mutation_p.N155I	p.N262I	NM_024699	NP_078975	WXS	Illumina GAIIx	Phase_I	Q8TCF1	ZFAN1_HUMAN			7	808	-			262					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	c.785A>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.042653	0.55003	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521287	.	.	.	5.62	5.62	0.85841	.	0.202886	0.49916	D	0.000128	T	0.54191	0.1843	L	0.36672	1.1	0.80722	D	1	P;P	0.44478	0.836;0.836	B;B	0.44224	0.444;0.444	T	0.60052	-0.7338	9	0.87932	D	0	.	15.8121	0.78573	0.0:0.0:0.0:1.0	.	255;262	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	I	255;262;155;155	.	ENSP00000220669:N262I	N	-	2	0	ZFAND1	82777507	1.000000	0.71417	0.965000	0.40720	0.195000	0.23768	6.826000	0.75298	2.146000	0.66826	0.397000	0.26171	AAT		0.294	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		48	73	0	0	0	1	0	48	73				
TBC1D25	4943	broad.mit.edu	37	X	48403341	48403341	+	Silent	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chrX:48403341C>A	ENST00000376771.4	+	3	659	c.318C>A	c.(316-318)ctC>ctA	p.L106L	TBC1D25_ENST00000476141.1_Intron|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	106					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTGGGACCTCAGCACAGCCT	0.562																																						uc011mmb.1																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(328-330)ctC>ctA		Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.							102.0	82.0	89.0					X																	48403341		2203	4300	6503	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48403341C>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.318C>A	X.37:g.48403341C>A			Somatic				TBC1D25_uc004dka.1_Silent_p.L106L|TBC1D25_uc011mly.1_Silent_p.L48L|TBC1D25_uc004dkb.1_Intron|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_Intron|TBC1D25_uc011mmd.1_5'UTR|TBC1D25_uc011mmc.1_Intron	p.L110L	NM_002536	NP_002527	WXS	Illumina GAIIx	Phase_I	Q3MII6	TBC25_HUMAN			2	416	+			106					Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.330C>A	CCDS35242.1																																																																																				0.562	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		3	34	0	0	0	1	0	3	34				
TMPO	7112	broad.mit.edu	37	12	98927427	98927427	+	Intron	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr12:98927427T>C	ENST00000556029.1	+	3	921				TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Silent_p.V464V|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAAAACTGTTGTCTCTCATT	0.423																																						uc001tfh.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1390-1392)gtT>gtC		Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.							160.0	134.0	143.0					12																	98927427		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927427T>C		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1811T>C	12.37:g.98927427T>C			Somatic				TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	p.V464V	NM_003276	NP_003267	WXS	Illumina GAIIx	Phase_I	P42167	LAP2B_HUMAN			3	1687	+			0					A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.1392T>C	CCDS31879.1																																																																																				0.423	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		37	57	0	0	0	1	0	37	57				
VSIG2	23584	broad.mit.edu	37	11	124618648	124618648	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:124618648C>T	ENST00000326621.5	-	5	698	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	RP11-677M14.2_ENST00000531241.1_RNA|VSIG2_ENST00000403470.1_Missense_Mutation_p.G200S	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	200	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ATGAGCTGGCCAGACACCTCA	0.537																																						uc001qas.3																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(598-600)Ggc>Agc		Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.							152.0	124.0	133.0					11																	124618648		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124618648C>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.598G>A	11.37:g.124618648C>T	ENSP00000318684:p.Gly200Ser		Somatic				VSIG2_uc001qat.3_Missense_Mutation_p.G200S	p.G200S	NM_014312	NP_055127	WXS	Illumina GAIIx	Phase_I	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	4	674	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	200			Ig-like C2-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.598G>A	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974024	0.92919	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.12774	2.65;2.65	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.38957	0.1060	M	0.77486	2.375	0.46798	D	0.999208	D	0.89917	1.0	D	0.91635	0.999	T	0.09250	-1.0683	10	0.66056	D	0.02	.	14.6271	0.68629	0.0:1.0:0.0:0.0	.	200	Q96IQ7	VSIG2_HUMAN	S	200	ENSP00000318684:G200S;ENSP00000385013:G200S	ENSP00000318684:G200S	G	-	1	0	VSIG2	124123858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.370000	0.59517	2.835000	0.97688	0.591000	0.81541	GGC		0.537	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		19	28	0	0	0	1	0	19	28				
CCDC39	339829	broad.mit.edu	37	3	180334307	180334307	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr3:180334307T>C	ENST00000442201.2	-	18	2702	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	861					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTATTACCTGTTGAAAGTATG	0.264																																						uc010hxe.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2581-2583)caA>caG		Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.							44.0	40.0	41.0					3																	180334307		1803	4064	5867	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334307T>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2583A>G	3.37:g.180334307T>C			Somatic				CCDC39_uc003fkn.3_Non-coding_Transcript|TTC14_uc003fkm.2_Intron	p.Q861Q	NM_181426	NP_852091	WXS	Illumina GAIIx	Phase_I	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		17	2698	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		861					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.2583A>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	8.383	0.837891	0.16891	.	.	ENSG00000145075	ENST00000473854	.	.	.	5.37	-0.35	0.12606	.	.	.	.	.	T	0.44993	0.1320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	4.2205	0.10556	0.119:0.4781:0.1361:0.2669	.	.	.	.	S	45	.	.	N	-	2	0	CCDC39	181817001	0.956000	0.32656	0.946000	0.38457	0.981000	0.71138	0.011000	0.13264	-0.181000	0.10619	0.455000	0.32223	AAC		0.264	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		24	30	0	0	0	1	0	24	30				
DBT	1629	broad.mit.edu	37	1	100681607	100681607	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:100681607A>G	ENST00000370132.4	-	6	717	c.704T>C	c.(703-705)aTg>aCg	p.M235T	DBT_ENST00000370131.3_Missense_Mutation_p.M235T	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	235					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGGAACAGTCATGTCTTTTGG	0.373																																						uc001dta.3																			0		p.M235I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(703-705)aTg>aCg		Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.							267.0	263.0	264.0					1																	100681607		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100681607A>G	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.704T>C	1.37:g.100681607A>G	ENSP00000359151:p.Met235Thr		Somatic				DBT_uc010oug.2_Missense_Mutation_p.M54T|DBT_uc021oqo.1_Missense_Mutation_p.M235T	p.M235T	NM_001918	NP_001909	WXS	Illumina GAIIx	Phase_I	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	5	737	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	235					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.704T>C	CCDS767.1	.	.	.	.	.	.	.	.	.	.	a	8.818	0.936917	0.18206	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.27720	1.65;1.65	5.66	-2.48	0.06423	.	0.896444	0.09845	N	0.748330	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45716	-0.9242	10	0.13853	T	0.58	-3.6242	7.8301	0.29338	0.1473:0.1469:0.0:0.7059	.	54;235	F5H1F9;P11182	.;ODB2_HUMAN	T	54;235;235	ENSP00000359151:M235T;ENSP00000359150:M235T	ENSP00000359150:M235T	M	-	2	0	DBT	100454195	0.000000	0.05858	0.034000	0.17996	0.551000	0.35334	-0.006000	0.12833	-0.246000	0.09611	0.524000	0.50904	ATG		0.373	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		114	175	0	0	0	1	0	114	175				
SCN3B	55800	broad.mit.edu	37	11	123513260	123513260	+	Silent	SNP	G	G	A	rs142613556		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:123513260G>A	ENST00000392770.2	-	3	1141	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SCN3B_ENST00000299333.3_Silent_p.N113N|SCN3B_ENST00000530277.1_Silent_p.N113N	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	113	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCCAGAGTCGTTCAGAGTGA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19306	0.001		0.0	False		,,,				2504	0.0					uc001pza.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(337-339)aaC>aaT		Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.		G	,	0,4404		0,0,2202	106.0	99.0	101.0		339,339	-10.3	0.7	11	dbSNP_134	101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SCN3B	NM_001040151.1,NM_018400.3	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	113/216,113/216	123513260	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513260G>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.339C>T	11.37:g.123513260G>A			Somatic				SCN3B_uc001pzb.1_Silent_p.N113N	p.N113N	NM_001040151	NP_060870	WXS	Illumina GAIIx	Phase_I	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	746	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	113			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	c.339C>T	CCDS8442.1																																																																																				0.602	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		5	97	0	0	0	1	0	5	97				
GPNMB	10457	broad.mit.edu	37	7	23293036	23293036	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:23293036G>T	ENST00000381990.2	+	2	342	c.181G>T	c.(181-183)Gtg>Ttg	p.V61L	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000258733.4_Missense_Mutation_p.V61L|GPNMB_ENST00000453162.2_Missense_Mutation_p.V61L|GPNMB_ENST00000409458.3_Missense_Mutation_p.V61L	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	61					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTACCCAGTGTGGAAGCG	0.433																																						uc003swc.3																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(181-183)Gtg>Ttg		Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.							103.0	104.0	103.0					7																	23293036		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23293036G>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.181G>T	7.37:g.23293036G>T	ENSP00000371420:p.Val61Leu		Somatic				GPNMB_uc003swa.2_Missense_Mutation_p.V61L|GPNMB_uc003swb.3_Missense_Mutation_p.V61L|GPNMB_uc011jyy.2_Missense_Mutation_p.V61L|GPNMB_uc011jyz.2_Intron	p.V61L	NM_001005340	NP_001005340	WXS	Illumina GAIIx	Phase_I	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		1	342	+			61					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.181G>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101360	0.56183	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000453162	T;T;T	0.14766	2.48;2.49;2.49	5.44	3.52	0.40303	.	0.172297	0.38837	N	0.001541	T	0.29882	0.0747	M	0.79805	2.47	0.22317	N	0.999202	P;P;D;P	0.67145	0.749;0.937;0.996;0.949	B;P;D;P	0.76071	0.441;0.506;0.987;0.712	T	0.15235	-1.0444	10	0.23891	T	0.37	-16.5726	3.7904	0.08718	0.0833:0.1178:0.4988:0.3001	.	61;61;61;61	F5GY20;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	L	61;96;61;61;61	ENSP00000258733:V61L;ENSP00000371420:V61L;ENSP00000405586:V61L	ENSP00000258733:V61L	V	+	1	0	GPNMB	23259561	0.993000	0.37304	1.000000	0.80357	0.969000	0.65631	1.554000	0.36266	1.280000	0.44463	0.650000	0.86243	GTG		0.433	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		4	80	0	0	0	1	0	4	80				
SLC4A8	9498	broad.mit.edu	37	12	51855027	51855027	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr12:51855027G>A	ENST00000453097.2	+	9	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	SLC4A8_ENST00000394856.1_Silent_p.Q298Q|SLC4A8_ENST00000514353.3_Silent_p.Q298Q|SLC4A8_ENST00000358657.3_Silent_p.Q378Q|SLC4A8_ENST00000535225.2_Silent_p.Q298Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGAAAGGTCAGCAGTACCATG	0.378																																						uc001rys.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1051-1053)caG>caA		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.							154.0	140.0	145.0					12																	51855027		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51855027G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1053G>A	12.37:g.51855027G>A			Somatic				SLC4A8_uc010sni.2_Silent_p.Q298Q|SLC4A8_uc001rym.3_Silent_p.Q298Q|SLC4A8_uc001ryn.3_Silent_p.Q298Q|SLC4A8_uc001ryo.2_Silent_p.Q298Q|SLC4A8_uc001ryp.1_Silent_p.Q298Q|SLC4A8_uc010snj.2_Silent_p.Q378Q|SLC4A8_uc001ryq.4_Silent_p.Q351Q|SLC4A8_uc001ryr.3_Silent_p.Q351Q|SLC4A8_uc010snk.2_Silent_p.Q298Q	p.Q351Q	NM_001039960	NP_001035049	WXS	Illumina GAIIx	Phase_I	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	8	1231	+			351						Silent	SNP	ENST00000453097.2	37	c.1053G>A	CCDS44890.1																																																																																				0.378	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		3	54	0	0	0	1	0	3	54				
ZBTB46	140685	broad.mit.edu	37	20	62421407	62421407	+	Missense_Mutation	SNP	G	G	A	rs569028644		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr20:62421407G>A	ENST00000245663.4	-	2	854	c.704C>T	c.(703-705)cCg>cTg	p.P235L	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P235L|ZBTB46_ENST00000302995.2_Missense_Mutation_p.P235L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	235					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGAGACGGTGAAACCTG	0.602																																						uc002ygv.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(703-705)cCg>cTg		Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.							83.0	76.0	78.0					20																	62421407		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421407G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.704C>T	20.37:g.62421407G>A	ENSP00000245663:p.Pro235Leu		Somatic				ZBTB46_uc002ygu.3_Non-coding_Transcript	p.P235L	NM_025224	NP_079500	WXS	Illumina GAIIx	Phase_I	Q86UZ6	ZBT46_HUMAN			1	905	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		235					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.704C>T	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224409	0.58668	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.20069	2.1;2.1;2.1	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08391	-1.0724	10	0.36615	T	0.2	.	19.0349	0.92972	0.0:0.0:1.0:0.0	.	235	Q86UZ6	ZBT46_HUMAN	L	235	ENSP00000245663:P235L;ENSP00000303102:P235L;ENSP00000378536:P235L	ENSP00000245663:P235L	P	-	2	0	ZBTB46	61891851	1.000000	0.71417	0.563000	0.28383	0.014000	0.08584	7.419000	0.80179	2.749000	0.94314	0.655000	0.94253	CCG		0.602	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		3	43	0	0	0	1	0	3	43				
EPPK1	83481	broad.mit.edu	37	8	144940654	144940654	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr8:144940654G>A	ENST00000525985.1	-	2	6839	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P				P58107	EPIPL_HUMAN	epiplakin 1	2256						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6766-6768)ccC>ccT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							47.0	45.0	46.0					8																	144940654		2171	4256	6427	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940654G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6768C>T	8.37:g.144940654G>A			Somatic					p.P2256P	NM_031308	NP_112598	WXS	Illumina GAIIx	Phase_I	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6781	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2256					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6768C>T																																																																																					0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	39	0	0	0	1	0	3	39				
RERE	473	broad.mit.edu	37	1	8526058	8526058	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:8526058C>T	ENST00000337907.3	-	12	1764	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	RERE_ENST00000377464.1_Missense_Mutation_p.G109D|RERE_ENST00000400907.2_Missense_Mutation_p.G377D|RERE_ENST00000400908.2_Missense_Mutation_p.G377D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	377	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGGGCTTTGCCAGCATCGTA	0.507																																						uc001ape.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1129-1131)gGc>gAc		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.							89.0	74.0	79.0					1																	8526058		2203	4300	6503	SO:0001583	missense	473				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8526058C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1130G>A	1.37:g.8526058C>T	ENSP00000338629:p.Gly377Asp		Somatic				RERE_uc001apf.3_Missense_Mutation_p.G377D|RERE_uc010nzx.1_Missense_Mutation_p.G109D|RERE_uc001aph.1_Missense_Mutation_p.G377D	p.G377D	NM_012102	NP_036234	WXS	Illumina GAIIx	Phase_I	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	11	1940	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	377			ELM2.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.1130G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212001	0.79240	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.98	5.98	0.97165	ELM2 domain (1);Homeodomain-like (1);	.	.	.	.	T	0.60418	0.2267	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53940	-0.8367	9	0.42905	T	0.14	-25.5195	19.4443	0.94840	0.0:1.0:0.0:0.0	.	109;377	B1AKN3;Q9P2R6	.;RERE_HUMAN	D	377;109;377;377	ENSP00000338629:G377D;ENSP00000366684:G109D;ENSP00000383699:G377D;ENSP00000383700:G377D	ENSP00000338629:G377D	G	-	2	0	RERE	8448645	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.484000	0.81180	2.847000	0.97988	0.591000	0.81541	GGC		0.507	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			3	45	0	0	0	1	0	3	45				
MPHOSPH8	54737	broad.mit.edu	37	13	20220952	20220952	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr13:20220952A>T	ENST00000361479.5	+	3	807	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.K247*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	247	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		agaagatcccaaagaaaatag	0.313																																						uc001umg.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(739-741)Aaa>Taa		Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.							27.0	32.0	30.0					13																	20220952		2126	4249	6375	SO:0001587	stop_gained	54737				cell cycle	cytoplasm|nucleus		g.chr13:20220952A>T	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.739A>T	13.37:g.20220952A>T	ENSP00000355388:p.Lys247*		Somatic				MPHOSPH8_uc001umh.3_Nonsense_Mutation_p.K247*|MPHOSPH8_uc001umi.3_5'UTR	p.K247*	NM_017520	NP_059990	WXS	Illumina GAIIx	Phase_I	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	2	840	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	247			Lys-rich.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Nonsense_Mutation	SNP	ENST00000361479.5	37	c.739A>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	A	38	6.778124	0.97833	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	.	.	.	6.02	6.02	0.97574	.	0.233845	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000355388:K247X	K	+	1	0	MPHOSPH8	19118952	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.108000	0.77055	2.304000	0.77564	0.528000	0.53228	AAA		0.313	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		32	48	0	0	0	1	0	32	48				
C2orf78	388960	broad.mit.edu	37	2	74043556	74043556	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr2:74043556C>T	ENST00000409561.1	+	3	2327	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	736										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACATGTTTCTCGGCGGCCAAA	0.537																																						uc002sjr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(2206-2208)Cgg>Tgg		Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.							199.0	203.0	202.0					2																	74043556		2080	4203	6283	SO:0001583	missense	388960							g.chr2:74043556C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2206C>T	2.37:g.74043556C>T	ENSP00000387124:p.Arg736Trp		Somatic					p.R736W	NM_001080474	NP_001073943	WXS	Illumina GAIIx	Phase_I	A6NCI8	CB078_HUMAN			2	2327	+			736						Missense_Mutation	SNP	ENST00000409561.1	37	c.2206C>T	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177736	0.57692	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.56776	0.44	5.23	4.36	0.52297	.	0.000000	0.46145	D	0.000316	T	0.70193	0.3196	M	0.79475	2.455	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62941	-0.6747	10	0.87932	D	0	-12.3262	10.1035	0.42519	0.0:0.9067:0.0:0.0933	.	736	A6NCI8	CB078_HUMAN	W	736;706	ENSP00000387124:R736W	ENSP00000340692:R706W	R	+	1	2	C2orf78	73897064	0.593000	0.26840	0.023000	0.16930	0.004000	0.04260	0.496000	0.22499	1.360000	0.45960	-0.253000	0.11424	CGG		0.537	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		8	195	0	0	0	1	0	8	195				
HIST1H2BD	3017	broad.mit.edu	37	6	26158671	26158671	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr6:26158671T>C	ENST00000289316.2	+	1	298	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S92P	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	92					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GACCATCACCTCCAGGGAGAT	0.627																																						uc003ngr.3																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(274-276)Tcc>Ccc		Homo sapiens histone cluster 1, H2bd (HIST1H2BD), transcript variant 1, mRNA.							95.0	101.0	99.0					6																	26158671		2203	4298	6501	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158671T>C	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.274T>C	6.37:g.26158671T>C	ENSP00000289316:p.Ser92Pro		Somatic				HIST1H2BD_uc003ngs.3_Missense_Mutation_p.S92P	p.S92P	NM_021063	NP_619790	WXS	Illumina GAIIx	Phase_I	P58876	H2B1D_HUMAN			0	323	+			92						Missense_Mutation	SNP	ENST00000289316.2	37	c.274T>C	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.734048	0.69189	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.46063	0.88;0.88	5.19	5.19	0.71726	Histone-fold (2);Histone core (1);	0.000000	0.53938	D	0.000052	T	0.39759	0.1090	M	0.88241	2.94	0.44330	D	0.997213	B	0.21688	0.059	B	0.28709	0.093	T	0.52719	-0.8538	10	0.72032	D	0.01	.	11.4472	0.50131	0.1348:0.0:0.0:0.8652	.	92	P58876	H2B1D_HUMAN	P	92	ENSP00000367008:S92P;ENSP00000289316:S92P	ENSP00000289316:S92P	S	+	1	0	HIST1H2BD	26266650	0.999000	0.42202	0.346000	0.25655	0.983000	0.72400	4.233000	0.58651	2.275000	0.75901	0.529000	0.55759	TCC		0.627	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		62	86	0	0	0	1	0	62	86				
ADCY2	108	broad.mit.edu	37	5	7707861	7707861	+	Silent	SNP	C	C	T	rs112493968	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr5:7707861C>T	ENST00000338316.4	+	9	1400	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.G257G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	437					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTGAATGGCGCTTATAAAG	0.413													C|||	10	0.00199681	0.0068	0.0	5008	,	,		17267	0.001		0.0	False		,,,				2504	0.0					uc003jdz.1																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1309-1311)ggC>ggT		Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.		C		17,4389	25.3+/-52.1	0,17,2186	126.0	126.0	126.0		1311	-11.3	0.5	5	dbSNP_132	126	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADCY2	NM_020546.2		0,19,6484	TT,TC,CC		0.0233,0.3858,0.1461		437/1092	7707861	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7707861C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1311C>T	5.37:g.7707861C>T			Somatic				ADCY2_uc011cmo.1_Silent_p.G257G	p.G437G	NM_020546	NP_065433	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			8	1378	+			437					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1311C>T	CCDS3872.2																																																																																				0.413	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		49	80	0	0	0	1	0	49	80				
SZT2	23334	broad.mit.edu	37	1	43882304	43882304	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:43882304T>G	ENST00000562955.1	+	7	871	c.871T>G	c.(871-873)Ttt>Gtt	p.F291V		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	291					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCTTGTTCCTTTGTCCAGGT	0.483																																						uc009vws.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(871-873)Ttt>Gtt		Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							42.0	36.0	38.0					1																	43882304		876	1991	2867	SO:0001583	missense	23334					peroxisome		g.chr1:43882304T>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.871T>G	1.37:g.43882304T>G	ENSP00000457168:p.Phe291Val		Somatic				SZT2_uc001cjk.2_5'UTR	p.F291V	NM_015284	NP_056099	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			6	955	+			291					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.871T>G	CCDS30694.2																																																																																				0.483	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		12	8	0	0	0	1	0	12	8				
HMCN1	83872	broad.mit.edu	37	1	185969305	185969305	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:185969305G>C	ENST00000271588.4	+	26	4232	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1335Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1335	Ig-like C2-type 10.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAATGGGGAGTACATCTG	0.418																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(4003-4005)Gag>Cag		Homo sapiens hemicentin 1 (HMCN1), mRNA.							136.0	122.0	127.0					1																	185969305		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185969305G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4003G>C	1.37:g.185969305G>C	ENSP00000271588:p.Glu1335Gln		Somatic					p.E1335Q	NM_031935	NP_114141	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			25	4232	+			1335			Ig-like C2-type 10.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4003G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851419	0.71719	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67523	-0.27;-0.27	5.25	4.33	0.51752	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.147231	0.64402	N	0.000013	T	0.60248	0.2254	N	0.21194	0.64	0.52501	D	0.999957	D	0.57571	0.98	P	0.51895	0.683	T	0.55541	-0.8125	10	0.19590	T	0.45	.	13.7888	0.63126	0.0741:0.0:0.9259:0.0	.	1335	Q96RW7	HMCN1_HUMAN	Q	1335	ENSP00000271588:E1335Q;ENSP00000356462:E1335Q	ENSP00000271588:E1335Q	E	+	1	0	HMCN1	184235928	1.000000	0.71417	0.998000	0.56505	0.784000	0.44337	9.188000	0.94921	1.205000	0.43262	0.558000	0.71614	GAG		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		67	68	0	0	0	1	0	67	68				
CEP290	80184	broad.mit.edu	37	12	88514828	88514828	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr12:88514828C>T	ENST00000552810.1	-	14	1648	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Silent_p.R435R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	435					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TATCCTTTTCCCTAGCATCAG	0.358																																						uc001tar.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1303-1305)agG>agA		Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.							122.0	115.0	117.0					12																	88514828		1852	4086	5938	SO:0001819	synonymous_variant	80184				G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88514828C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1305G>A	12.37:g.88514828C>T			Somatic				CEP290_uc001tat.3_Silent_p.R197R|CEP290_uc009zsl.1_Non-coding_Transcript	p.R435R	NM_025114	NP_079390	WXS	Illumina GAIIx	Phase_I	O15078	CE290_HUMAN			13	1649	-			435					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.1305G>A	CCDS55858.1																																																																																				0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		17	44	0	0	0	1	0	17	44				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	66	0	0	0	1	0	36	66				
SERPINA9	327657	broad.mit.edu	37	14	94936076	94936076	+	Silent	SNP	G	G	A	rs375474833	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr14:94936076G>A	ENST00000380365.3	-	2	180	c.102C>T	c.(100-102)tcC>tcT	p.S34S	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Silent_p.S52S|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000337425.5_Silent_p.S52S|SERPINA9_ENST00000546329.1_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	34					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTTTGTGGAGGAAGGGCGGG	0.562													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17762	0.0		0.0	False		,,,				2504	0.0					uc001ydf.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(154-156)tcC>tcT		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.		G	,	11,4003		0,11,1996	83.0	86.0	85.0		156,156	2.1	0.0	14		85	0,8332		0,0,4166	no	coding-synonymous,coding-synonymous	SERPINA9	NM_001042518.1,NM_175739.3	,	0,11,6162	AA,AG,GG		0.0,0.274,0.0891	,	52/336,52/436	94936076	11,12335	2007	4166	6173	SO:0001819	synonymous_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94936076G>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.102C>T	14.37:g.94936076G>A			Somatic				SERPINA9_uc001yde.3_Silent_p.S52S|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Intron|SERPINA9_uc001ydh.1_Silent_p.S52S|SERPINA9_uc001ydi.1_Intron	p.S52S	NM_175739	NP_783866	WXS	Illumina GAIIx	Phase_I	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	1	317	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	34					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37	c.156C>T																																																																																					0.562	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		27	50	0	0	0	1	0	27	50				
NALCN	259232	broad.mit.edu	37	13	101735461	101735461	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr13:101735461C>T	ENST00000251127.6	-	32	3753	c.3672G>A	c.(3670-3672)tcG>tcA	p.S1224S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1224					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCAACACCGACTGGGCCA	0.413																																						uc001vox.1																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3670-3672)tcG>tcA		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							128.0	125.0	126.0					13																	101735461		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735461C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3672G>A	13.37:g.101735461C>T			Somatic					p.S1224S	NM_052867	NP_443099	WXS	Illumina GAIIx	Phase_I	Q8IZF0	NALCN_HUMAN			31	3861	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1224					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.3672G>A	CCDS9498.1																																																																																				0.413	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		25	42	0	0	0	1	0	25	42				
ATM	472	broad.mit.edu	37	11	108178672	108178672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:108178672delC	ENST00000452508.2	+	39	5912	c.5723delC	c.(5722-5724)acafs	p.T1908fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.T1908fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1908					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCACAAAGAACAATGCTTGCT	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5722-5724)acafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							165.0	149.0	154.0					11																	108178672		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	g.chr11:108178672delC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5723delC	11.37:g.108178672delC	ENSP00000388058:p.Thr1908fs	TSP Lung(14;0.12)	Somatic				ATM_uc009yxr.1_Frame_Shift_Del_p.T1908fs|ATM_uc001pke.2_Frame_Shift_Del_p.T560fs|ATM_uc001pkg.1_Frame_Shift_Del_p.T265fs|ATM_uc009yxt.1_Intron	p.T1908fs	NM_000051	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	37	6108	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1908					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.5723delC	CCDS31669.1																																																																																				0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		23	43						23	43	---	---	---	---
ATM	472	broad.mit.edu	37	11	108178672	108178672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:108178672delC	ENST00000452508.2	+	39	5912	c.5723delC	c.(5722-5724)acafs	p.T1908fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.T1908fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1908					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCACAAAGAACAATGCTTGCT	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5722-5724)acafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							165.0	149.0	154.0					11																	108178672		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	g.chr11:108178672delC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5723delC	11.37:g.108178672delC	ENSP00000388058:p.Thr1908fs	TSP Lung(14;0.12)	Somatic				ATM_uc009yxr.1_Frame_Shift_Del_p.T1908fs|ATM_uc001pke.2_Frame_Shift_Del_p.T560fs|ATM_uc001pkg.1_Frame_Shift_Del_p.T265fs|ATM_uc009yxt.1_Intron	p.T1908fs	NM_000051	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	37	6108	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1908					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.5723delC	CCDS31669.1																																																																																				0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		23	43						23	43	---	---	---	---
