#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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	73	0	0	0	1	0	5	73				
PDLIM5	10611	broad.mit.edu	37	4	95376476	95376476	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr4:95376476C>T	ENST00000317968.4	+	2	173	c.37C>T	c.(37-39)Cct>Tct	p.P13S	PDLIM5_ENST00000514743.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000504489.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000359265.4_Missense_Mutation_p.P13S|PDLIM5_ENST00000538141.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P13S|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000437932.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000450793.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000512274.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000508216.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000380180.3_Missense_Mutation_p.P13S	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	13	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGGCCCAGCTCCTTGGGGTTT	0.408																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(37-39)Cct>Tct		PDZ and LIM domain 5							65.0	64.0	65.0					4																	95376476		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95376476C>T	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.37C>T	4.37:g.95376476C>T	ENSP00000321746:p.Pro13Ser					PDLIM5_ENST00000450793.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000504489.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000538141.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P13S|PDLIM5_ENST00000380180.3_Missense_Mutation_p.P13S|PDLIM5_ENST00000514743.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000512274.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000437932.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000359265.4_Missense_Mutation_p.P13S|PDLIM5_ENST00000508216.1_Missense_Mutation_p.P13S	p.P13S	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	2	173	+		Hepatocellular(203;0.114)	13			PDZ.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.37C>T	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232696	0.95207	.	.	ENSG00000163110	ENST00000359265;ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000512274;ENST00000503974;ENST00000504489;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T;T;T;T;T	0.75589	-0.95;1.17;1.17;1.17;1.17;1.17;1.17;2.35;1.17;2.35;1.17;1.17	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.071660	0.56097	D	0.000033	D	0.85566	0.5726	M	0.66378	2.025	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.923;1.0;1.0;0.999	D;D;P;D;D;D	0.97110	0.999;0.999;0.755;1.0;0.996;0.998	D	0.86675	0.1913	10	0.87932	D	0	.	18.1706	0.89744	0.0:1.0:0.0:0.0	.	13;13;13;13;13;13	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.;.;PDLI5_HUMAN;.;.;.	S	13	ENSP00000352210:P13S;ENSP00000398469:P13S;ENSP00000369527:P13S;ENSP00000322021:P13S;ENSP00000401579:P13S;ENSP00000439795:P13S;ENSP00000321746:P13S;ENSP00000426379:P13S;ENSP00000424297:P13S;ENSP00000423009:P13S;ENSP00000426804:P13S;ENSP00000424360:P13S	ENSP00000321746:P13S	P	+	1	0	PDLIM5	95595499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.578000	0.87016	0.591000	0.81541	CCT		0.408	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			6	12	0	0	0	1	0	6	12				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		30	36	0	0	0	1	0	30	36				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	37	0	0	0	1	0	3	37				
SKA3	221150	broad.mit.edu	37	13	21746483	21746483	+	Missense_Mutation	SNP	T	T	G			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr13:21746483T>G	ENST00000314759.5	-	3	450	c.326A>C	c.(325-327)aAt>aCt	p.N109T	SKA3_ENST00000400018.3_Missense_Mutation_p.N109T	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	109					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAAACCTGAATTTTTCTTGAC	0.303																																						ENST00000314759.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(325-327)aAt>aCt		spindle and kinetochore associated complex subunit 3							72.0	80.0	77.0					13																	21746483		2202	4295	6497	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21746483T>G	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.326A>C	13.37:g.21746483T>G	ENSP00000319417:p.Asn109Thr					SKA3_ENST00000400018.3_Missense_Mutation_p.N109T	p.N109T	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			3	450	-			109					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.326A>C	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.884280	0.33255	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.23147	1.92;1.92	5.52	3.08	0.35506	.	0.416974	0.27802	N	0.017797	T	0.19765	0.0475	L	0.53249	1.67	0.09310	N	1	P;B	0.38677	0.642;0.386	B;B	0.34242	0.178;0.178	T	0.18304	-1.0341	10	0.54805	T	0.06	-14.3663	4.8452	0.13510	0.0:0.1656:0.1579:0.6765	.	109;109	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	T	109	ENSP00000319417:N109T;ENSP00000382896:N109T	ENSP00000319417:N109T	N	-	2	0	SKA3	20644483	0.058000	0.20735	0.715000	0.30552	0.918000	0.54935	0.436000	0.21526	0.386000	0.24997	0.482000	0.46254	AAT		0.303	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		32	46	0	0	0	1	0	32	46				
HUWE1	10075	broad.mit.edu	37	X	53602646	53602646	+	Missense_Mutation	SNP	C	C	A	rs200650762		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chrX:53602646C>A	ENST00000342160.3	-	44	6444	c.5987G>T	c.(5986-5988)cGt>cTt	p.R1996L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1996L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1996					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTGCTCTGACGCGTAAGTGA	0.443																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(5986-5988)cGt>cTt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							120.0	93.0	102.0					X																	53602646		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53602646C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5987G>T	X.37:g.53602646C>A	ENSP00000340648:p.Arg1996Leu					HUWE1_ENST00000262854.6_Missense_Mutation_p.R1996L	p.R1996L			Q7Z6Z7	HUWE1_HUMAN			44	6444	-			1996					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.5987G>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592679	0.66219	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.38887	1.11;1.11	5.43	5.43	0.79202	.	0.335242	0.26851	N	0.022163	T	0.44414	0.1292	N	0.24115	0.695	0.52501	D	0.999953	D;D	0.57899	0.967;0.981	P;P	0.55112	0.592;0.769	T	0.27226	-1.0080	10	0.30854	T	0.27	.	17.0172	0.86422	0.0:1.0:0.0:0.0	.	1996;1996	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	L	1996	ENSP00000340648:R1996L;ENSP00000262854:R1996L	ENSP00000262854:R1996L	R	-	2	0	HUWE1	53619371	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.614000	0.67695	2.281000	0.76405	0.600000	0.82982	CGT		0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		24	34	1	0	2.39556e-15	1	2.59519e-15	24	34				
AHNAK	79026	broad.mit.edu	37	11	62294307	62294307	+	Missense_Mutation	SNP	G	G	A	rs151063380		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr11:62294307G>A	ENST00000378024.4	-	5	7856	c.7582C>T	c.(7582-7584)Cct>Tct	p.P2528S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2528					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTACTTCAGGGCCCTCTGCT	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7582-7584)Cct>Tct		AHNAK nucleoprotein		G	SER/PRO,	0,4404		0,0,2202	160.0	159.0	159.0		7582,	3.1	0.0	11	dbSNP_134	159	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	74,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,	2528/5891,	62294307	1,13001	2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294307G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7582C>T	11.37:g.62294307G>A	ENSP00000367263:p.Pro2528Ser					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P2528S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7856	-		Melanoma(852;0.155)	2528					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7582C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	8.684	0.905828	0.17760	0.0	1.16E-4	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05649	3.41	3.99	3.06	0.35304	.	.	.	.	.	T	0.13157	0.0319	M	0.90252	3.1	0.29099	N	0.881583	B	0.25312	0.123	B	0.24974	0.057	T	0.05582	-1.0876	9	0.54805	T	0.06	.	7.1759	0.25744	0.0906:0.0:0.7427:0.1667	.	2528	Q09666	AHNK_HUMAN	S	617;2528	ENSP00000367263:P2528S	ENSP00000244934:P617S	P	-	1	0	AHNAK	62050883	0.914000	0.31030	0.042000	0.18584	0.008000	0.06430	1.636000	0.37144	0.810000	0.34279	0.298000	0.19748	CCT		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	180	0	0	0	1	0	7	180				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						ENST00000391417.4																			4	Substitution - Missense(4)	p.S57P(4)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061.3	NP_149050.3					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	35	0	0	0	1	0	4	35				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	48	0	0	0	1	0	5	48				
TOR3A	64222	broad.mit.edu	37	1	179064186	179064186	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr1:179064186G>A	ENST00000367627.3	+	6	1779	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	343					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						GTACCGTCACGTGAGGCTGTG	0.507																																						ENST00000367627.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1027-1029)Gtg>Atg		torsin family 3, member A							198.0	172.0	181.0					1																	179064186		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179064186G>A	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.1027G>A	1.37:g.179064186G>A	ENSP00000356599:p.Val343Met					TOR3A_ENST00000352445.6_Intron	p.V343M	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN			6	1779	+			343					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.1027G>A	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588928	0.86851	.	.	ENSG00000186283	ENST00000367627	T	0.29917	1.55	5.69	4.76	0.60689	.	0.060704	0.64402	D	0.000003	T	0.61986	0.2391	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.69953	-0.5005	10	0.66056	D	0.02	-37.8626	14.0444	0.64695	0.0733:0.0:0.9267:0.0	.	343	Q9H497	TOR3A_HUMAN	M	343	ENSP00000356599:V343M	ENSP00000356599:V343M	V	+	1	0	TOR3A	177330809	1.000000	0.71417	0.984000	0.44739	0.837000	0.47467	6.423000	0.73361	2.676000	0.91093	0.655000	0.94253	GTG		0.507	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		4	101	0	0	0	1	0	4	101				
H1FNT	341567	broad.mit.edu	37	12	48723377	48723377	+	Missense_Mutation	SNP	G	G	T			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr12:48723377G>T	ENST00000335017.1	+	1	615	c.303G>T	c.(301-303)agG>agT	p.R101S		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	101					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AAGCGCCCAGGGGGCAGGCCA	0.672																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(301-303)agG>agT		H1 histone family, member N, testis-specific							15.0	19.0	18.0					12																	48723377		2199	4290	6489	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723377G>T	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.303G>T	12.37:g.48723377G>T	ENSP00000334805:p.Arg101Ser						p.R101S	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	615	+			101					Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.303G>T	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645585	0.29246	.	.	ENSG00000187166	ENST00000335017	T	0.18338	2.22	5.13	0.907	0.19321	.	.	.	.	.	T	0.09468	0.0233	L	0.29908	0.895	0.09310	N	1	B	0.29341	0.242	B	0.21917	0.037	T	0.37731	-0.9693	9	0.18710	T	0.47	0.0586	5.0714	0.14609	0.1503:0.1175:0.6119:0.1202	.	101	Q75WM6	H1FNT_HUMAN	S	101	ENSP00000334805:R101S	ENSP00000334805:R101S	R	+	3	2	H1FNT	47009644	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.442000	0.35046	-0.042000	0.13535	-0.813000	0.03139	AGG		0.672	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		8	7	1	0	0.000274275	1	0.000274275	8	7				
TTN	7273	broad.mit.edu	37	2	179650740	179650740	+	Silent	SNP	G	G	A			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr2:179650740G>A	ENST00000591111.1	-	14	2429	c.2205C>T	c.(2203-2205)taC>taT	p.Y735Y	TTN_ENST00000342175.6_Silent_p.Y689Y|TTN_ENST00000589042.1_Silent_p.Y735Y|TTN_ENST00000342992.6_Silent_p.Y735Y|TTN_ENST00000359218.5_Silent_p.Y689Y|TTN_ENST00000460472.2_Silent_p.Y689Y|TTN_ENST00000360870.5_Silent_p.Y735Y			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTATATCCGTACTCCAAAG	0.537																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2203-2205)taC>taT		titin							93.0	87.0	89.0					2																	179650740		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650740G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2205C>T	2.37:g.179650740G>A						TTN_ENST00000591111.1_Silent_p.Y735Y|TTN_ENST00000460472.2_Silent_p.Y689Y|TTN_ENST00000342175.6_Silent_p.Y689Y|TTN_ENST00000342992.6_Silent_p.Y735Y|TTN_ENST00000360870.5_Silent_p.Y735Y|TTN_ENST00000359218.5_Silent_p.Y689Y	p.Y735Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	2429	-			735					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.2205C>T																																																																																					0.537	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	54	0	0	0	1	0	3	54				
CEACAM5	1048	broad.mit.edu	37	19	42231224	42231224	+	Silent	SNP	T	T	G	rs200460609		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr19:42231224T>G	ENST00000221992.6	+	9	2211	c.2097T>G	c.(2095-2097)gtT>gtG	p.V699V	CEACAM5_ENST00000405816.1_Silent_p.V699V|CEACAM5_ENST00000398599.4_Silent_p.V698V|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	699					homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGTTGGGGTTGCTCTGATAT	0.498																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(2095-2097)gtT>gtG		carcinoembryonic antigen-related cell adhesion molecule 5							317.0	303.0	308.0					19																	42231224		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42231224T>G	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.2097T>G	19.37:g.42231224T>G						CEACAM5_ENST00000398599.4_Silent_p.V698V|CEACAM5_ENST00000405816.1_Silent_p.V699V|CEA_ENST00000598976.1_Intron	p.V699V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	9	2211	+			699					H9KVA7	Silent	SNP	ENST00000221992.6	37	c.2097T>G	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	T	1.178	-0.639098	0.03557	.	.	ENSG00000105388	ENST00000398599	.	.	.	1.98	-2.17	0.07059	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26849	-1.0091	4	.	.	.	.	3.0437	0.06146	0.1591:0.0:0.3683:0.4726	.	.	.	.	G	695	.	.	C	+	1	0	CEACAM5	46923064	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.493000	0.06459	-0.398000	0.07679	-0.659000	0.03860	TGC		0.498	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		12	218	0	0	0	1	0	12	218				
CHSY3	337876	broad.mit.edu	37	5	129520747	129520747	+	Missense_Mutation	SNP	A	A	G			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr5:129520747A>G	ENST00000305031.4	+	3	2270	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	638					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CTTGAGATTCATGGAGAACTT	0.398																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1912-1914)Atg>Gtg		chondroitin sulfate synthase 3							79.0	81.0	80.0					5																	129520747		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520747A>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1912A>G	5.37:g.129520747A>G	ENSP00000302629:p.Met638Val						p.M638V	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2270	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	638					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1912A>G	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090394	0.55968	.	.	ENSG00000198108	ENST00000305031	T	0.29142	1.58	4.12	4.12	0.48240	.	0.000000	0.64402	D	0.000002	T	0.44201	0.1282	M	0.65975	2.015	0.54753	D	0.999989	P	0.46064	0.872	P	0.52031	0.688	T	0.38478	-0.9659	9	.	.	.	-7.4609	14.1845	0.65595	1.0:0.0:0.0:0.0	.	638	Q70JA7	CHSS3_HUMAN	V	638	ENSP00000302629:M638V	.	M	+	1	0	CHSY3	129548646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.261000	0.78400	2.069000	0.61940	0.528000	0.53228	ATG		0.398	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		9	71	0	0	0	1	0	9	71				
TRAV3	28690	broad.mit.edu	37	14	22192478	22192478	+	RNA	SNP	G	G	A			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr14:22192478G>A	ENST00000390425.2	+	0	429									T cell receptor alpha variable 3 (gene/pseudogene)																		CTTTGAAGCTGAATTTAACAA	0.463																																						ENST00000390425.2																			0																				71.0	73.0	73.0					14																	22192478		2073	4191	6264			28690							g.chr14:22192478G>A	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192478G>A														0	429	+									RNA	SNP	ENST00000390425.2	37																																																																																						0.463	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		19	32	0	0	0	1	0	19	32				
MAP3K4	4216	broad.mit.edu	37	6	161519378	161519378	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr6:161519378C>T	ENST00000392142.4	+	17	3741	c.3593C>T	c.(3592-3594)gCt>gTt	p.A1198V	MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1198	Poly-Ala.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		gctgctgctgctgctgttgct	0.597																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3592-3594)gCt>gTt		mitogen-activated protein kinase kinase kinase 4							93.0	92.0	92.0					6																	161519378		2203	4299	6502	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161519378C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3593C>T	6.37:g.161519378C>T	ENSP00000375986:p.Ala1198Val					MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000348824.7_Intron	p.A1198V	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	17	3741	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1198			Poly-Ala.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3593C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.360800	0.01245	.	.	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.71103	-0.54;-0.53	2.29	2.29	0.28610	.	0.754387	0.11657	N	0.542271	T	0.51227	0.1662	N	0.19112	0.55	0.26345	N	0.977309	B;D	0.57571	0.073;0.98	B;D	0.65443	0.037;0.935	T	0.39354	-0.9618	10	0.10377	T	0.69	-7.006	8.5531	0.33465	0.0:1.0:0.0:0.0	.	1194;1198	F5H538;Q9Y6R4	.;M3K4_HUMAN	V	1198;1194	ENSP00000375986:A1198V;ENSP00000355887:A1194V	ENSP00000355887:A1194V	A	+	2	0	MAP3K4	161439368	0.010000	0.17322	0.105000	0.21289	0.511000	0.34104	0.116000	0.15561	1.726000	0.51525	0.366000	0.22137	GCT		0.597	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			5	137	0	0	0	1	0	5	137				
CACNA1F	778	broad.mit.edu	37	X	49062200	49062200	+	Missense_Mutation	SNP	G	G	A	rs2856748		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chrX:49062200G>A	ENST00000376265.2	-	47	5640	c.5579C>T	c.(5578-5580)gCg>gTg	p.A1860V	CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1795V|AF196779.1_ENST00000583131.1_RNA|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1849V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1860				A -> G (in Ref. 6; AAB92359). {ECO:0000305}.	axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1860V(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCTCCCCCGCTGCGCCCTC	0.652																																						ENST00000376265.2																			1	Substitution - Missense(1)	p.A1860V(1)	endometrium(1)	autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(5578-5580)gCg>gTg		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						33.0	26.0	29.0					X																	49062200		2201	4297	6498	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49062200G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5579C>T	X.37:g.49062200G>A	ENSP00000365441:p.Ala1860Val					CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1795V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1849V	p.A1860V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			47	5640	-			1860	A -> G (in Ref. 4; AAB92359).				A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5579C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	7.341	0.620930	0.14193	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.61859	0.07;0.07;0.07	5.38	3.58	0.41010	.	1.373100	0.04548	N	0.389265	T	0.47764	0.1463	L	0.31065	0.9	0.23851	N	0.996662	B;B	0.13145	0.007;0.004	B;B	0.06405	0.002;0.001	T	0.30592	-0.9973	10	0.25106	T	0.35	.	9.5549	0.39332	0.1807:0.0:0.8193:0.0	.	1849;1860	F5CIQ9;O60840	.;CAC1F_HUMAN	V	1795;1849;1860	ENSP00000365427:A1795V;ENSP00000321618:A1849V;ENSP00000365441:A1860V	ENSP00000321618:A1849V	A	-	2	0	CACNA1F	48949144	0.071000	0.21146	0.075000	0.20258	0.095000	0.18619	0.909000	0.28558	0.535000	0.28714	0.594000	0.82650	GCG		0.652	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		7	7	0	0	0	1	0	7	7				
LINC01359	101927084	broad.mit.edu	37	1	65451792	65451793	+	lincRNA	INS	-	-	T	rs113756498|rs35258864		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr1:65451792_65451793insT	ENST00000447748.1	-	0	1775																											CAATCTAATTGttttttttttt	0.49																																						ENST00000447748.1																			0																																																			101927084							g.chr1:65451792_65451793insT																													1.37:g.65451803_65451803dupT														0	1775	-									RNA	INS	ENST00000447748.1	37																																																																																						0.490	RP11-182I10.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000025780.1			2	4						2	4	---	---	---	---
ARNT	405	broad.mit.edu	37	1	150814926	150814930	+	Frame_Shift_Del	DEL	GCTCT	GCTCT	-			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr1:150814926_150814930delGCTCT	ENST00000358595.5	-	5	442_446	c.242_246delAGAGC	c.(241-246)cagagcfs	p.QS81fs	ARNT_ENST00000515192.1_Frame_Shift_Del_p.QS72fs|ARNT_ENST00000354396.2_Frame_Shift_Del_p.QS81fs|ARNT_ENST00000505755.1_Intron	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	81					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATCCGCAGAGCTCTGCTCATCATC	0.39			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(241-246)cfs		aryl hydrocarbon receptor nuclear translocator																																				SO:0001589	frameshift_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150814926_150814930delGCTCT	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.242_246delAGAGC	1.37:g.150814926_150814930delGCTCT	ENSP00000351407:p.Gln81fs					ARNT_ENST00000505755.1_Intron|ARNT_ENST00000354396.2_Frame_Shift_Del_p.QS81fs|ARNT_ENST00000515192.1_Frame_Shift_Del_p.QS72fs	p.QS81fs	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	442_446	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		81					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Frame_Shift_Del	DEL	ENST00000358595.5	37	c.242_246delAGAGC	CCDS970.1																																																																																				0.390	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			37	84						37	84	---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58104625	58104625	+	Frame_Shift_Del	DEL	C	C	-	rs370142959		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr3:58104625delC	ENST00000295956.4	+	19	2937	c.2772delC	c.(2770-2772)tacfs	p.Y924fs	FLNB_ENST00000490882.1_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000348383.5_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000429972.2_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000493452.1_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000419752.2_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000358537.3_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000357272.4_Frame_Shift_Del_p.Y924fs	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	924				Y -> H (in Ref. 7; CAE46040). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTGACTTACGGTGGCGATC	0.473																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(2770-2772)tafs		filamin B, beta							158.0	134.0	142.0					3																	58104625		2203	4300	6503	SO:0001589	frameshift_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58104625delC	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2772delC	3.37:g.58104625delC	ENSP00000295956:p.Tyr924fs					FLNB_ENST00000358537.3_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000348383.5_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000295956.4_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000419752.2_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000493452.1_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000490882.1_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000429972.2_Frame_Shift_Del_p.Y924fs	p.Y924fs			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	19	2937	+			924	Y -> H (in Ref. 6; CAE46040).				B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Frame_Shift_Del	DEL	ENST00000295956.4	37	c.2772delC	CCDS2885.1																																																																																				0.473	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		26	51						26	51	---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-	rs541688197	byFrequency	TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cagccg>cag	p.P751del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(2230-2235)cag>ca		sine oculis binding protein homolog (Drosophila)																																				SO:0001651	inframe_deletion	55084						metal ion binding	g.chr6:107956280_107956282delGCC	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2232_2234delGCC	6.37:g.107956289_107956291delGCC	ENSP00000318900:p.Pro751del					SOBP_ENST00000494935.1_3'UTR	p.QP744del	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2891_2893	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	744			Pro-rich.			In_Frame_Del	DEL	ENST00000317357.5	37	c.2232_2234delGCC	CCDS43488.1																																																																																				0.749	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		2	4						2	4	---	---	---	---
MGAM2	93432	broad.mit.edu	37	7	141871942	141871942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr7:141871942delG	ENST00000477922.3	+	29	3450	c.3396delG	c.(3394-3396)ctgfs	p.L1132fs																	endometrium(1)|lung(5)	6						ACATGGCACTGGAGGAGGATG	0.473																																						ENST00000477922.3																			0				endometrium(1)|lung(5)	6						c.(3394-3396)ctfs																																						SO:0001589	frameshift_variant	93432							g.chr7:141871942delG																												ENST00000477922.3:c.3396delG	7.37:g.141871942delG	ENSP00000420449:p.Leu1132fs						p.L1132fs							29	3450	+									Frame_Shift_Del	DEL	ENST00000477922.3	37	c.3396delG																																																																																					0.473	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000351325.3			2	4						2	4	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			399881							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		2	4						2	4	---	---	---	---
MRPS31P5	100887750	broad.mit.edu	37	13	52768405	52768405	+	RNA	DEL	G	G	-			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr13:52768405delG	ENST00000451298.1	-	0	1229				MRPS31P5_ENST00000416599.1_RNA																							GTTCCATGCCGAGCAGCGAGT	0.587																																						ENST00000451298.1																			0																																																			100887750							g.chr13:52768405delG																													13.37:g.52768405delG						RP11-64P12.8_ENST00000606031.1_RNA								0	1229	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.587	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			2	4						2	4	---	---	---	---
