#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MOB3B	79817	broad.mit.edu	37	9	27359236	27359236	+	Splice_Site	SNP	T	T	C			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr9:27359236T>C	ENST00000262244.5	-	3	843		c.e3-2		MOB3B_ENST00000603061.1_Splice_Site	NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B								metal ion binding (GO:0046872)										AGGGAACACCTAGAGAAGAAA	0.453																																						ENST00000262244.5																			0											c.e3-2		MOB kinase activator 3B							84.0	92.0	89.0					9																	27359236		2203	4300	6503	SO:0001630	splice_region_variant	79817						metal ion binding|protein binding	g.chr9:27359236T>C	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.419-2A>G	9.37:g.27359236T>C						MOB3B_ENST00000603061.1_Splice_Site		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN			3	843	-								Q8NEB4|Q9H8V4	Splice_Site	SNP	ENST00000262244.5	37		CCDS6520.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117488	0.56505	.	.	ENSG00000120162	ENST00000262244	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4786	0.61322	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MOBKL2B	27349236	1.000000	0.71417	0.996000	0.52242	0.594000	0.36715	8.036000	0.88901	1.877000	0.54381	0.254000	0.18369	.		0.453	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761	Intron	59	71	0	0	0	0.014410	0	59	71				
MST1L	11223	broad.mit.edu	37	1	17083837	17083837	+	RNA	SNP	T	T	C	rs7798	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:17083837T>C	ENST00000455405.2	-	0	751							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CTAATTCCTTTCAGGACCCAG	0.572													.|||	796	0.158946	0.3442	0.147	5008	,	,		39830	0.0139		0.1183	False		,,,				2504	0.1084					ENST00000455405.2																			0																																																			0							g.chr1:17083837T>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083837T>C														0	751	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	4.613	0.113916	0.08831	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.354697	0.20253	N	0.096033	T	0.15478	0.0373	.	.	.	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31752	-0.9932	6	0.07030	T	0.85	.	4.4522	0.11626	0.0:0.6658:0.0:0.3342	rs7798;rs1065517;rs3206536;rs4661972;rs9329464;rs11545932;rs17349417;rs7798	654;680	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	E	654;680	.	ENSP00000439273:K654E	K	-	1	0	MST1P9	16956424	1.000000	0.71417	0.916000	0.36221	0.000000	0.00434	2.244000	0.43124	-0.406000	0.07588	0.000000	0.15137	AAA		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		4	25	0	0	0	0.003080	0	4	25				
GAS8	2622	broad.mit.edu	37	16	90103675	90103675	+	Silent	SNP	C	C	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr16:90103675C>T	ENST00000268699.4	+	7	914	c.792C>T	c.(790-792)caC>caT	p.H264H	GAS8_ENST00000536122.1_Silent_p.H239H|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	264					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGGAGGACCACCTGGAGAGGG	0.627																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(790-792)caC>caT		growth arrest-specific 8							65.0	63.0	63.0					16																	90103675		2198	4300	6498	SO:0001819	synonymous_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90103675C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.792C>T	16.37:g.90103675C>T						GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.H239H	p.H264H	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	7	914	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	264					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	c.792C>T	CCDS10992.1																																																																																				0.627	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			4	21	0	0	0	0.009096	0	4	21				
RPL32P3	132241	broad.mit.edu	37	3	129116292	129116292	+	RNA	SNP	A	A	C	rs562734605	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr3:129116292A>C	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						AGCAAATCCCACCCTGCCAGT	0.512													a|||	475	0.0948482	0.0605	0.1643	5008	,	,		19602	0.127		0.1402	False		,,,				2504	0.0123					ENST00000514355.1																			0				lung(1)	1																																														0							g.chr3:129116292A>C	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116292A>C														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.512	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			8	55	0	0	0	0.021523	0	8	55				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		116	172	0	0	0	0.014410	0	116	172				
BCRP7	100133163	broad.mit.edu	37	22	18845998	18845998	+	3'UTR	SNP	G	G	A	rs201503410		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:18845998G>A	ENST00000412938.1	+	0	3356																											CCCGTCCTGCGCAGGCCGACA	0.607																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845998G>A																												ENST00000412938.1:c.*3353G>A	22.37:g.18845998G>A														0	3356	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.607	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	34	0	0	0	0.003080	0	7	34				
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G	rs200931909		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr20:62120282T>G	ENST00000298049.7	-	6	1323	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S	EEF1A2_ENST00000217182.3_Missense_Mutation_p.Y418S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	418					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.Y418S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667																																						ENST00000217182.3																			1	Substitution - Missense(1)	p.Y418S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(1252-1254)tAc>tCc		eukaryotic translation elongation factor 1 alpha 2							28.0	29.0	29.0					20																	62120282		2189	4283	6472	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62120282T>G	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1253A>C	20.37:g.62120282T>G	ENSP00000298049:p.Tyr418Ser					EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S	p.Y418S	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		7	1418	-	all_cancers(38;9.45e-12)		418					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.1253A>C	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511359	0.64522	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.44881	0.91;0.91	3.12	3.12	0.35913	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.170048	0.39759	N	0.001263	T	0.74405	0.3712	H	0.96142	3.775	0.80722	D	1	P	0.39696	0.683	D	0.68039	0.955	T	0.79629	-0.1724	10	0.87932	D	0	-10.4709	11.6664	0.51376	0.0:0.0:0.0:1.0	.	418	Q05639	EF1A2_HUMAN	S	418	ENSP00000298049:Y418S;ENSP00000217182:Y418S	ENSP00000217182:Y418S	Y	-	2	0	EEF1A2	61590726	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	5.966000	0.70395	1.187000	0.43000	0.392000	0.25879	TAC		0.667	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		17	39	0	0	0	0.017118	0	17	39				
SMARCA2	6595	broad.mit.edu	37	9	2039818	2039818	+	Silent	SNP	A	A	G			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr9:2039818A>G	ENST00000382203.1	+	4	917	c.708A>G	c.(706-708)caA>caG	p.Q236Q	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q236Q|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000357248.2_Silent_p.Q236Q|SMARCA2_ENST00000382194.1_Silent_p.Q236Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	236	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcaacagcagccgc	0.587																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(706-708)caA>caG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							11.0	13.0	13.0					9																	2039818		2170	4235	6405	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039818A>G	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.708A>G	9.37:g.2039818A>G						SMARCA2_ENST00000349721.2_Silent_p.Q236Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q236Q|SMARCA2_ENST00000382194.1_Silent_p.Q236Q	p.Q236Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	917	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	236			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.708A>G	CCDS34977.1																																																																																				0.587	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		3	31	0	0	0	0.009096	0	3	31				
RP11-423O2.5	0	broad.mit.edu	37	1	142803719	142803719	+	lincRNA	SNP	C	C	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:142803719C>T	ENST00000423385.1	-	0	1246																											ttcctataacctactgttaaa	0.368																																						ENST00000423385.1																			0																																																			0							g.chr1:142803719C>T																													1.37:g.142803719C>T														0	1246	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.368	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	13	0	0	0	0.004672	0	3	13				
C6orf47	57827	broad.mit.edu	37	6	31627090	31627090	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:31627090C>A	ENST00000375911.1	-	1	1459	c.635G>T	c.(634-636)cGt>cTt	p.R212L	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	212						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CAGCGGTCCACGCAGGCCCAG	0.637																																						ENST00000375911.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(634-636)cGt>cTt		chromosome 6 open reading frame 47							66.0	54.0	58.0					6																	31627090		1510	2709	4219	SO:0001583	missense	57827							g.chr6:31627090C>A	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.635G>T	6.37:g.31627090C>A	ENSP00000365076:p.Arg212Leu					C6orf47-AS1_ENST00000422049.1_RNA	p.R212L	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN			1	1459	-			212					B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	37	c.635G>T	CCDS34399.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285343	0.80803	.	.	ENSG00000204439	ENST00000375911;ENST00000538106	T	0.48201	0.82	5.62	5.62	0.85841	.	0.216119	0.28921	N	0.013718	T	0.47948	0.1473	M	0.62723	1.935	0.32710	N	0.511662	D	0.58970	0.984	P	0.52386	0.697	T	0.55749	-0.8092	10	0.72032	D	0.01	-1.5746	15.1593	0.72771	0.0:1.0:0.0:0.0	.	212	O95873	CF047_HUMAN	L	212	ENSP00000365076:R212L	ENSP00000365076:R212L	R	-	2	0	C6orf47	31735069	0.503000	0.26115	0.962000	0.40283	0.912000	0.54170	2.428000	0.44749	2.653000	0.90120	0.655000	0.94253	CGT		0.637	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		45	34	1	0	1.76056e-25	0.011902	1.85785e-24	45	34				
DUXAP8	503637	broad.mit.edu	37	22	16151010	16151010	+	RNA	SNP	T	T	C	rs8137415		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:16151010T>C	ENST00000447898.1	-	0	1104																											AGTTGTTCTCTGGAATCAATC	0.393																																						ENST00000447898.1																			0																																																			0							g.chr22:16151010T>C																													22.37:g.16151010T>C														0	1104	-									RNA	SNP	ENST00000447898.1	37																																																																																						0.393	AP000525.9-002	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000276780.1			5	16	0	0	0	0.001984	0	5	16				
ADCY9	115	broad.mit.edu	37	16	4164144	4164144	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr16:4164144T>G	ENST00000294016.3	-	2	1838	c.1300A>C	c.(1300-1302)Aag>Cag	p.K434Q		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	434	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCTCACACTTGGTCTCCTCA	0.612																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1300-1302)Aag>Cag		adenylate cyclase 9							76.0	80.0	79.0					16																	4164144		2197	4300	6497	SO:0001583	missense	115				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	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164144T>G	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1300A>C	16.37:g.4164144T>G	ENSP00000294016:p.Lys434Gln						p.K434Q	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1838	-			434			Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1300A>C	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.691431	0.30052	.	.	ENSG00000162104	ENST00000294016	D	0.84589	-1.87	5.28	5.28	0.74379	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.197704	0.45126	D	0.000388	T	0.74928	0.3781	N	0.16016	0.355	0.41312	D	0.987112	B	0.17038	0.02	B	0.17433	0.018	T	0.70396	-0.4883	10	0.33940	T	0.23	.	15.2396	0.73458	0.0:0.0:0.0:1.0	.	434	O60503	ADCY9_HUMAN	Q	434	ENSP00000294016:K434Q	ENSP00000294016:K434Q	K	-	1	0	ADCY9	4104145	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.207000	0.51106	2.007000	0.58848	0.454000	0.30748	AAG		0.612	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			6	136	0	0	0	0.001168	0	6	136				
HIST2H3D	653604	broad.mit.edu	37	1	149785212	149785212	+	Missense_Mutation	SNP	G	G	A	rs375383583		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:149785212G>A	ENST00000331491.1	-	1	24	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	9					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GTCGACTTGCGGGCAGTCTGC	0.602																																						ENST00000331491.1																			0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(25-27)Cgc>Tgc		histone cluster 2, H3d							28.0	29.0	28.0					1																	149785212		1557	3551	5108	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785212G>A	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.25C>T	1.37:g.149785212G>A	ENSP00000333277:p.Arg9Cys						p.R9C	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN			1	24	-			9					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.25C>T	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328210	0.24080	.	.	ENSG00000183598	ENST00000331491	T	0.48522	0.81	4.13	4.13	0.48395	.	0.000000	0.56097	U	0.000031	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59247	-0.7490	7	0.56958	D	0.05	.	15.4963	0.75653	0.0:0.0:1.0:0.0	.	.	.	.	C	9	ENSP00000333277:R9C	ENSP00000333277:R9C	R	-	1	0	HIST2H3D	148051836	1.000000	0.71417	0.975000	0.42487	0.055000	0.15305	4.173000	0.58249	2.302000	0.77476	0.436000	0.28706	CGC		0.602	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		37	49	0	0	0	0.013114	0	37	49				
SF3A1	10291	broad.mit.edu	37	22	30734812	30734812	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:30734812G>A	ENST00000215793.8	-	11	1863	c.1709C>T	c.(1708-1710)gCt>gTt	p.A570V	SF3A1_ENST00000439242.1_Missense_Mutation_p.A505V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	570					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GATGGGTGGAGCCGAGCTGGG	0.542																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(1513-1515)gCt>gTt		splicing factor 3a, subunit 1, 120kDa							205.0	211.0	209.0					22																	30734812		2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30734812G>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1709C>T	22.37:g.30734812G>A	ENSP00000215793:p.Ala570Val					SF3A1_ENST00000215793.7_Missense_Mutation_p.A570V	p.A505V	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			11	1645	-			570					E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.1514C>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499118	0.44455	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.31510	1.49;1.5	5.67	5.67	0.87782	.	0.157678	0.56097	D	0.000025	T	0.29976	0.0750	L	0.46157	1.445	0.58432	D	0.999994	B	0.30482	0.281	B	0.24974	0.057	T	0.03555	-1.1025	10	0.23891	T	0.37	-18.4087	19.7667	0.96346	0.0:0.0:1.0:0.0	.	570	Q15459	SF3A1_HUMAN	V	505;570;467;221	ENSP00000390336:A505V;ENSP00000215793:A570V	ENSP00000215793:A570V	A	-	2	0	SF3A1	29064812	0.998000	0.40836	0.891000	0.34965	0.970000	0.65996	3.108000	0.50337	2.681000	0.91329	0.655000	0.94253	GCT		0.542	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		95	102	0	0	0	0.014410	0	95	102				
PSMA6	5687	broad.mit.edu	37	14	35761712	35761712	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr14:35761712C>A	ENST00000261479.4	+	1	150	c.30C>A	c.(28-30)gaC>gaA	p.D10E	PSMA6_ENST00000553809.1_Missense_Mutation_p.D10E|PSMA6_ENST00000556506.1_Missense_Mutation_p.D10E|PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron|AL121594.1_ENST00000578587.1_RNA|PSMA6_ENST00000555764.1_5'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	10					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CCGGTTTTGACCGCCACATTA	0.562																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(28-30)gaC>gaA		proteasome (prosome, macropain) subunit, alpha type, 6							110.0	105.0	107.0					14																	35761712		2203	4300	6503	SO:0001583	missense	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35761712C>A	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.30C>A	14.37:g.35761712C>A	ENSP00000261479:p.Asp10Glu					PSMA6_ENST00000553809.1_Missense_Mutation_p.D10E|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000556506.1_Missense_Mutation_p.D10E|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000555764.1_5'UTR	p.D10E	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	1	150	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		10					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.30C>A	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034738	0.93575	.	.	ENSG00000100902	ENST00000261479;ENST00000553809;ENST00000556506	T;T;T	0.58797	0.31;0.31;0.31	5.96	4.9	0.64082	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.82089	0.4961	H	0.95917	3.74	0.80722	D	1	D	0.55172	0.97	D	0.66716	0.946	D	0.86500	0.1803	10	0.66056	D	0.02	-0.2196	14.0078	0.64475	0.0:0.917:0.0:0.083	.	10	P60900	PSA6_HUMAN	E	10	ENSP00000261479:D10E;ENSP00000452603:D10E;ENSP00000450528:D10E	ENSP00000261479:D10E	D	+	3	2	PSMA6	34831463	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.555000	0.23422	2.826000	0.97356	0.655000	0.94253	GAC		0.562	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			9	115	1	0	0.000673444	0.008291	0.00628026	9	115				
KCNA4	3739	broad.mit.edu	37	11	30033056	30033056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:30033056G>T	ENST00000328224.6	-	2	2403	c.1170C>A	c.(1168-1170)tgC>tgA	p.C390*	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	390					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GACAAGCAAAGCAGCGAACCA	0.448																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1168-1170)tgC>tgA		potassium voltage-gated channel, shaker-related subfamily, member 4							81.0	78.0	79.0					11																	30033056		2050	4228	6278	SO:0001587	stop_gained	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033056G>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1170C>A	11.37:g.30033056G>T	ENSP00000328511:p.Cys390*						p.C390*	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2403	-			390						Nonsense_Mutation	SNP	ENST00000328224.6	37	c.1170C>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	46	12.715507	0.99690	.	.	ENSG00000182255	ENST00000328224	.	.	.	5.3	4.39	0.52855	.	0.113958	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.2599	0.43421	0.1514:0.0:0.8486:0.0	.	.	.	.	X	390	.	ENSP00000328511:C390X	C	-	3	2	KCNA4	29989632	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.029000	0.49712	1.237000	0.43756	0.563000	0.77884	TGC		0.448	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		47	73	1	0	1.02687e-29	0.013114	1.1129e-28	47	73				
TBC1D7	51256	broad.mit.edu	37	6	13307860	13307860	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:13307860C>T	ENST00000379300.3	-	6	880	c.637G>A	c.(637-639)Gga>Aga	p.G213R	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000356436.4_Missense_Mutation_p.G213R|TBC1D7_ENST00000343141.4_Missense_Mutation_p.G167R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.G186R|TBC1D7_ENST00000607658.1_Missense_Mutation_p.G186R	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	213	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GGCAAACATCCCGCAAAGCAC	0.483																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(556-558)Gga>Aga		TBC1 domain family, member 7							115.0	111.0	112.0					6																	13307860		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13307860C>T	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.637G>A	6.37:g.13307860C>T	ENSP00000368602:p.Gly213Arg					TBC1D7_ENST00000356436.4_Missense_Mutation_p.G213R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.G186R|TBC1D7_ENST00000343141.4_Missense_Mutation_p.G167R|TBC1D7_ENST00000379300.3_Missense_Mutation_p.G213R|TBC1D7_ENST00000607532.1_5'UTR	p.G186R			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		5	706	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	213			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.556G>A	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463085	0.96257	.	.	ENSG00000145979	ENST00000334971;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456	T;T;T;T;T;T;T;T;T	0.38240	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;1.15	6.17	6.17	0.99709	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.84511	2.7	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.97110	0.966;1.0;0.97;0.99	T	0.50608	-0.8808	10	0.18276	T	0.48	-22.2615	19.8676	0.96824	0.0:1.0:0.0:0.0	.	167;186;186;213	Q2TU37;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;TBCD7_HUMAN	R	154;213;213;186;167;186;186;213;186;186	ENSP00000348813:G213R;ENSP00000368602:G213R;ENSP00000368609:G186R;ENSP00000343100:G167R;ENSP00000414292:G186R;ENSP00000404680:G186R;ENSP00000394425:G213R;ENSP00000417005:G186R;ENSP00000412102:G186R	ENSP00000334212:G154R	G	-	1	0	TBC1D7	13415839	1.000000	0.71417	0.950000	0.38849	0.953000	0.61014	7.324000	0.79115	2.941000	0.99782	0.655000	0.94253	GGA		0.483	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		40	56	0	0	0	0.006230	0	40	56				
LAMC3	10319	broad.mit.edu	37	9	133917103	133917103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr9:133917103G>T	ENST00000361069.4	+	7	1496	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	455	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAGAATGTGGAAGGCAACCT	0.582																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1363-1365)Gaa>Taa		laminin, gamma 3							49.0	43.0	45.0					9																	133917103		2203	4300	6503	SO:0001587	stop_gained	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133917103G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1363G>T	9.37:g.133917103G>T	ENSP00000354360:p.Glu455*					LAMC3_ENST00000480883.1_3'UTR	p.E455*	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	7	1496	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	455			Laminin EGF-like 4.		B1APX9|B1APY0|Q59H72	Nonsense_Mutation	SNP	ENST00000361069.4	37	c.1363G>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	40	8.463671	0.98822	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8071	0.85708	0.0:0.0:1.0:0.0	.	.	.	.	X	455	.	ENSP00000325873:E455X	E	+	1	0	LAMC3	132906924	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.452000	0.97615	2.311000	0.77944	0.462000	0.41574	GAA		0.582	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		13	43	1	0	0.000308642	0.003163	0.0029468	13	43				
SYNCRIP	10492	broad.mit.edu	37	6	86324743	86324743	+	Missense_Mutation	SNP	C	C	T	rs200994802		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:86324743C>T	ENST00000369622.3	-	11	2103	c.1603G>A	c.(1603-1605)Gtt>Att	p.V535I	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.V535I|RP11-321N4.5_ENST00000503906.1_Silent_p.A70A	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	535	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCACCTCGAACGCCTCTTGCT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16495	0.0		0.001	False		,,,				2504	0.0					ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1603-1605)Gtt>Att		synaptotagmin binding, cytoplasmic RNA interacting protein							131.0	139.0	136.0					6																	86324743		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324743C>T	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1603G>A	6.37:g.86324743C>T	ENSP00000358635:p.Val535Ile					SYNCRIP_ENST00000369622.3_Missense_Mutation_p.V535I|RP11-321N4.5_ENST00000503906.1_Silent_p.A70A	p.V535I	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1809	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	535			8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1603G>A	CCDS5005.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.934	1.215629	0.22373	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.26957	1.7;1.7	5.39	5.39	0.77823	.	0.407398	0.26804	N	0.022402	T	0.07324	0.0185	L	0.27053	0.805	0.40026	D	0.975474	B;B;B;B;B;B;B	0.30482	0.071;0.117;0.071;0.117;0.281;0.117;0.071	B;B;B;B;B;B;B	0.22601	0.011;0.025;0.011;0.04;0.033;0.025;0.011	T	0.05937	-1.0855	10	0.02654	T	1	.	19.1481	0.93476	0.0:1.0:0.0:0.0	.	535;500;437;383;500;535;535	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	I	535	ENSP00000347380:V535I;ENSP00000358635:V535I	ENSP00000347380:V535I	V	-	1	0	SYNCRIP	86381462	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.656000	0.54467	2.521000	0.84997	0.563000	0.77884	GTT		0.627	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		39	177	0	0	0	0.009718	0	39	177				
C11orf87	399947	broad.mit.edu	37	11	109294829	109294829	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:109294829C>T	ENST00000327419.6	+	2	873	c.470C>T	c.(469-471)cCg>cTg	p.P157L	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	157						integral component of membrane (GO:0016021)		p.P157R(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGGCCTCCCGTGCCAGGGT	0.672																																						ENST00000327419.6																			1	Substitution - Missense(1)	p.P157R(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(469-471)cCg>cTg		chromosome 11 open reading frame 87							43.0	47.0	46.0					11																	109294829		2201	4296	6497	SO:0001583	missense	399947					integral to membrane		g.chr11:109294829C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.470C>T	11.37:g.109294829C>T	ENSP00000331581:p.Pro157Leu					RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	p.P157L	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	873	+			157					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.470C>T	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	C	4.995	0.184756	0.09495	.	.	ENSG00000185742	ENST00000327419	.	.	.	3.7	1.7	0.24286	.	0.117442	0.31601	U	0.007380	T	0.11495	0.0280	N	0.08118	0	0.29042	N	0.885033	B	0.02656	0.0	B	0.04013	0.001	T	0.24225	-1.0166	9	0.02654	T	1	-2.6201	1.527	0.02527	0.2459:0.4406:0.1849:0.1286	.	157	Q6NUJ2	CK087_HUMAN	L	157	.	ENSP00000331581:P157L	P	+	2	0	C11orf87	108800039	0.116000	0.22171	0.926000	0.36857	0.972000	0.66771	-0.299000	0.08254	0.469000	0.27268	0.655000	0.94253	CCG		0.672	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		48	55	0	0	0	0.013114	0	48	55				
CDHR1	92211	broad.mit.edu	37	10	85972879	85972879	+	Silent	SNP	C	C	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr10:85972879C>T	ENST00000372117.3	+	16	1918	c.1815C>T	c.(1813-1815)aaC>aaT	p.N605N	CDHR1_ENST00000440770.2_Silent_p.N309N|CDHR1_ENST00000332904.3_Silent_p.N605N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	605	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AACCCAACAACCTGGTGGACT	0.557																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1813-1815)aaC>aaT		cadherin-related family member 1							123.0	107.0	113.0					10																	85972879		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972879C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1815C>T	10.37:g.85972879C>T						CDHR1_ENST00000440770.2_Silent_p.N309N|CDHR1_ENST00000332904.3_Silent_p.N605N	p.N605N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			16	1918	+			605			Cadherin 6.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.1815C>T	CCDS7372.1																																																																																				0.557	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		60	59	0	0	0	0.014410	0	60	59				
KLHL24	54800	broad.mit.edu	37	3	183397022	183397022	+	Missense_Mutation	SNP	A	A	G	rs143529905		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr3:183397022A>G	ENST00000454652.2	+	9	2137	c.1751A>G	c.(1750-1752)tAt>tGt	p.Y584C	KLHL24_ENST00000242810.6_Missense_Mutation_p.Y584C	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	584						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCAGTGTCCTATCATGGCTGT	0.463																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1750-1752)tAt>tGt		kelch-like family member 24		A	CYS/TYR	0,4406		0,0,2203	112.0	105.0	107.0		1751	6.1	1.0	3	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLHL24	NM_017644.3	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	584/601	183397022	1,13005	2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183397022A>G		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1751A>G	3.37:g.183397022A>G	ENSP00000395012:p.Tyr584Cys					KLHL24_ENST00000242810.6_Missense_Mutation_p.Y584C	p.Y584C			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		9	2137	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		584					A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.1751A>G	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044871	0.75732	0.0	1.16E-4	ENSG00000114796	ENST00000242810;ENST00000454652	T;T	0.66995	-0.24;-0.24	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.126462	0.56097	D	0.000034	T	0.65954	0.2741	L	0.53249	1.67	0.80722	D	1	B	0.19200	0.034	B	0.27076	0.076	T	0.61192	-0.7112	10	0.40728	T	0.16	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	584	Q6TFL4	KLH24_HUMAN	C	584	ENSP00000242810:Y584C;ENSP00000395012:Y584C	ENSP00000242810:Y584C	Y	+	2	0	KLHL24	184879716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.330000	0.79161	0.477000	0.44152	TAT		0.463	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		33	36	0	0	0	0.009535	0	33	36				
DNM1P47	100216544	broad.mit.edu	37	15	102292839	102292839	+	RNA	SNP	C	C	A	rs62026971	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr15:102292839C>A	ENST00000561463.1	+	0	885									DNM1 pseudogene 47																		CTCGTGGAGGCGTCGGCAGAG	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292839C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292839C>A														0	885	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	16	1	0	2.0095e-06	0.001984	1.96539e-05	5	16				
FAT3	120114	broad.mit.edu	37	11	92577600	92577600	+	Silent	SNP	C	C	T	rs576218915	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:92577600C>T	ENST00000298047.6	+	18	11084	c.11067C>T	c.(11065-11067)agC>agT	p.S3689S	FAT3_ENST00000533797.1_Silent_p.S24S|FAT3_ENST00000525166.1_Silent_p.S3539S|FAT3_ENST00000409404.2_Silent_p.S3689S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3689					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATCATCAGCATCCAGCCCG	0.602										TCGA Ovarian(4;0.039)			C|||	2	0.000399361	0.0	0.0029	5008	,	,		22262	0.0		0.0	False		,,,				2504	0.0					ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11065-11067)agC>agT		FAT atypical cadherin 3							40.0	42.0	41.0					11																	92577600		2173	4272	6445	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577600C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11067C>T	11.37:g.92577600C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Silent_p.S24S|FAT3_ENST00000409404.2_Silent_p.S3689S|FAT3_ENST00000525166.1_Silent_p.S3539S	p.S3689S			Q8TDW7	FAT3_HUMAN			18	11084	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3689					B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11067C>T																																																																																					0.602	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	24	0	0	0	0.004007	0	16	24				
GRAMD2	196996	broad.mit.edu	37	15	72457708	72457708	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr15:72457708T>G	ENST00000309731.7	-	8	600	c.587A>C	c.(586-588)gAa>gCa	p.E196A	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	196						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AGACTCAGGTTCCCCTGAAAA	0.552																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(586-588)gAa>gCa		GRAM domain containing 2							110.0	111.0	111.0					15																	72457708		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72457708T>G	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.587A>C	15.37:g.72457708T>G	ENSP00000311657:p.Glu196Ala					GRAMD2_ENST00000564184.1_5'UTR	p.E196A	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			8	600	-			196					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.587A>C	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.964070	0.34659	.	.	ENSG00000175318	ENST00000309731	T	0.35236	1.32	5.4	4.26	0.50523	.	1.532230	0.04477	N	0.377127	T	0.54303	0.1850	L	0.61218	1.895	0.33944	D	0.643576	D	0.71674	0.998	D	0.64776	0.929	T	0.47394	-0.9121	10	0.08179	T	0.78	.	10.9284	0.47203	0.0:0.0:0.1574:0.8426	.	196	Q8IUY3	GRAM2_HUMAN	A	196	ENSP00000311657:E196A	ENSP00000311657:E196A	E	-	2	0	GRAMD2	70244762	1.000000	0.71417	0.038000	0.18304	0.008000	0.06430	3.987000	0.56944	0.864000	0.35578	0.533000	0.62120	GAA		0.552	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		7	118	0	0	0	0.003080	0	7	118				
BCRP7	100133163	broad.mit.edu	37	22	18845990	18845990	+	3'UTR	SNP	C	C	T	rs200186747		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:18845990C>T	ENST00000412938.1	+	0	3348																											ACCTCCATCCCGTCCTGCGCA	0.582																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845990C>T																												ENST00000412938.1:c.*3345C>T	22.37:g.18845990C>T														0	3348	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.582	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	35	0	0	0	0.003080	0	7	35				
ARVCF	421	broad.mit.edu	37	22	19969230	19969230	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:19969230G>A	ENST00000263207.3	-	5	691	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ARVCF_ENST00000401994.1_Missense_Mutation_p.R71W|ARVCF_ENST00000406522.1_Missense_Mutation_p.R71W|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406259.1_Missense_Mutation_p.R134W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R71W	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	134					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGTACTGTCCGAGTGGTCACC	0.622																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(400-402)Cgg>Tgg		armadillo repeat gene deleted in velocardiofacial syndrome							34.0	41.0	38.0					22																	19969230		2187	4258	6445	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969230G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.400C>T	22.37:g.19969230G>A	ENSP00000263207:p.Arg134Trp					ARVCF_ENST00000406522.1_Missense_Mutation_p.R71W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R71W|ARVCF_ENST00000401994.1_Missense_Mutation_p.R71W|ARVCF_ENST00000406259.1_Missense_Mutation_p.R134W|ARVCF_ENST00000487793.1_5'UTR	p.R134W	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			5	691	-	Colorectal(54;0.0993)		134					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.400C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609474	0.66558	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.43	-0.632	0.11523	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.66939	2.045	0.47778	D	0.999512	D	0.65815	0.995	P	0.49387	0.609	T	0.47249	-0.9132	9	.	.	.	-5.1212	15.2039	0.73162	0.0:0.0:0.1774:0.8226	.	134	O00192	ARVC_HUMAN	W	134;71;71;71;134	ENSP00000263207:R134W;ENSP00000342042:R71W;ENSP00000384341:R71W;ENSP00000384732:R71W;ENSP00000385444:R134W	.	R	-	1	2	ARVCF	18349230	0.016000	0.18221	0.354000	0.25760	0.905000	0.53344	0.185000	0.16958	0.125000	0.18397	0.551000	0.68910	CGG		0.622	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		38	58	0	0	0	0.007835	0	38	58				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	75	0	0	0	0.003080	0	6	75				
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Intron	DEL	TG	TG	-			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:32670247_32670248delTG	ENST00000373602.5	+	5	895				CCDC28B_ENST00000483009.1_Intron|RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_Frame_Shift_Del_p.C192fs|IQCC_ENST00000537469.1_5'Flank|IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(574-576)tfs		coiled-coil domain containing 28B																																				SO:0001627	intron_variant	79140							g.chr1:32670247_32670248delTG	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+26TG>-	1.37:g.32670255_32670256delTG						CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron	p.C192fs			Q9BUN5	CC28B_HUMAN			5	674_675	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Frame_Shift_Del	DEL	ENST00000373602.5	37	c.574_575delTG	CCDS354.2																																																																																				0.500	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		7	419						7	419	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74685770	74685770	+	Frame_Shift_Del	DEL	G	G	-	rs566524770		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr2:74685770delG	ENST00000233615.2	+	1	315	c.41delG	c.(40-42)tggfs	p.W14fs	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Frame_Shift_Del_p.W14fs|WBP1_ENST00000409737.1_Frame_Shift_Del_p.W14fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	14							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGAGGCCTGGGGGGCACTT	0.632																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(40-42)tgfs		WW domain binding protein 1							16.0	18.0	17.0					2																	74685770		2174	4255	6429	SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74685770delG	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.41delG	2.37:g.74685770delG	ENSP00000233615:p.Trp14fs					WBP1_ENST00000409737.1_Frame_Shift_Del_p.W14fs|WBP1_ENST00000233615.2_Frame_Shift_Del_p.W14fs|WBP1_ENST00000494741.1_3'UTR	p.W14fs			Q96G27	WBP1_HUMAN			1	244	+			14					B2RE02|O95637	Frame_Shift_Del	DEL	ENST00000233615.2	37	c.41delG	CCDS1943.1																																																																																				0.632	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		2	4						2	4	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31270080	31270081	+	RNA	INS	-	-	AAA	rs397963443|rs59046327	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr12:31270080_31270081insAAA	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CGTTAAACTGGATCTCACTGGA	0.505														2879	0.57488	0.6324	0.5231	5008	,	,		14258	0.8194		0.3777	False		,,,				2504	0.4847					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41												1674,1746		681,312,717						1.6	0.3		dbSNP_129	59	2013,5685		627,759,2463	no	coding	OVOS2	XM_002343151.2		1308,1071,3180	A1A1,A1R,RR		26.1496,48.9474,33.1624				3687,7431						0							g.chr12:31270080_31270081insAAA																													12.37:g.31270080_31270081insAAA														0	52	-									RNA	INS	ENST00000542490.1	37																																																																																						0.505	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			9	28						9	28	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		9	193						9	193	---	---	---	---
TRAV9-1	28678	broad.mit.edu	37	14	22279845	22279846	+	RNA	INS	-	-	T	rs374555375		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr14:22279845_22279846insT	ENST00000390431.3	+	0	46									T cell receptor alpha variable 9-1																		TAATTTGTTTATTTTTTTTTCA	0.406																																						ENST00000390431.3																			0																																																			0							g.chr14:22279845_22279846insT	AE000659		14q11.2	2012-02-07			ENSG00000211783	ENSG00000211783		"""T cell receptors / TRA locus"""	12153	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168987		14.37:g.22279854_22279854dupT														0	46	+									RNA	INS	ENST00000390431.3	37																																																																																						0.406	TRAV9-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401885.1	NG_001332		2	4						2	4	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514603	75514604	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr14:75514603_75514604insT	ENST00000556740.1	-	1	1790_1791	c.1755_1756insA	c.(1753-1758)aaagaafs	p.E586fs	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.E586fs			Q9UHC1	MLH3_HUMAN	mutL homolog 3	586					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTGCTAGATTCTTTTTTTTTCT	0.356								Mismatch excision repair (MMR)																														ENST00000355774.2																			3	Deletion - In frame(2)|Substitution - Nonsense(1)	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)	breast(2)|large_intestine(1)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1753-1758)aaaatcfs	Mismatch excision repair (MMR)	mutL homolog 3																																				SO:0001589	frameshift_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514603_75514604insT	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1756dupA	14.37:g.75514612_75514612dupT	ENSP00000452316:p.Glu586fs					MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs	p.I586fs	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1970_1971	-			586					P49751|Q56DK9|Q9P292|Q9UHC0	Frame_Shift_Ins	INS	ENST00000556740.1	37	c.1755_1756insA	CCDS32123.1																																																																																				0.356	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		7	189						7	189	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	0							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			8	12						8	12	---	---	---	---
