#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KCNH8	131096	broad.mit.edu	37	3	19492678	19492678	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr3:19492678C>G	ENST00000328405.2	+	10	1873	c.1607C>G	c.(1606-1608)tCt>tGt	p.S536C	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	536					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GAACTGCGTTCTGACATCACT	0.438																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(1606-1608)tCt>tGt		potassium voltage-gated channel, subfamily H (eag-related), member 8							153.0	155.0	154.0					3																	19492678		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19492678C>G	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1607C>G	3.37:g.19492678C>G	ENSP00000328813:p.Ser536Cys		Somatic				KCNH8_ENST00000537696.1_3'UTR	p.S536C	NM_144633.2	NP_653234.2	WXS	Illumina GAIIx	Phase_I	Q96L42	KCNH8_HUMAN			10	1873	+			536					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1607C>G	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766346	0.90020	.	.	ENSG00000183960	ENST00000328405	D	0.97041	-4.22	5.52	5.52	0.82312	Cyclic nucleotide-binding-like (1);	0.000000	0.31747	U	0.007124	D	0.96586	0.8886	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.95943	0.8948	9	.	.	.	.	19.4475	0.94854	0.0:1.0:0.0:0.0	.	536	Q96L42	KCNH8_HUMAN	C	536	ENSP00000328813:S536C	.	S	+	2	0	KCNH8	19467682	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.818000	0.86416	2.609000	0.88269	0.460000	0.39030	TCT		0.438	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		7	152	7	152	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23526964	23526964	+	Silent	SNP	T	T	C			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr5:23526964T>C	ENST00000296682.3	+	11	1949	c.1767T>C	c.(1765-1767)ttT>ttC	p.F589F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	589					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGCGGGGCTTTAGCTGGCAGT	0.602										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1765-1767)ttT>ttC		PR domain containing 9							40.0	46.0	44.0					5																	23526964		2150	4244	6394	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526964T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1767T>C	5.37:g.23526964T>C		HNSCC(3;0.000094)	Somatic					p.F589F	NM_020227.2	NP_064612.2	WXS	Illumina GAIIx	Phase_I	Q9NQV7	PRDM9_HUMAN			11	1949	+			589					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1767T>C	CCDS43307.1																																																																																				0.602	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		4	93	4	93	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89938713	89938713	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr5:89938713G>A	ENST00000405460.2	+	13	2504	c.2408G>A	c.(2407-2409)gGg>gAg	p.G803E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	803	Calx-beta 6. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGATCAAGGGGGTCCCTTGTT	0.408																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2407-2409)gGg>gAg		G protein-coupled receptor 98							128.0	123.0	125.0					5																	89938713		1836	4087	5923	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89938713G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2408G>A	5.37:g.89938713G>A	ENSP00000384582:p.Gly803Glu		Somatic					p.G803E	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	13	2504	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	803					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2408G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894781	0.91962	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.32272	1.46	5.16	5.16	0.70880	Na-Ca exchanger/integrin-beta4 (1);	0.047204	0.85682	N	0.000000	T	0.59404	0.2191	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64736	-0.6337	10	0.87932	D	0	.	18.6542	0.91445	0.0:0.0:1.0:0.0	.	803	Q8WXG9	GPR98_HUMAN	E	803	ENSP00000384582:G803E	ENSP00000296619:G803E	G	+	2	0	GPR98	89974469	1.000000	0.71417	0.788000	0.31933	0.832000	0.47134	9.119000	0.94362	2.401000	0.81631	0.591000	0.81541	GGG		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	99	5	99	---	---	---	---
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_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)	Somatic				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	WXS	Illumina GAIIx	Phase_I	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		7	68	7	68	---	---	---	---
FAM134C	162427	broad.mit.edu	37	17	40734812	40734812	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr17:40734812T>C	ENST00000309428.5	-	8	882	c.823A>G	c.(823-825)Act>Gct	p.T275A	FAM134C_ENST00000543197.1_Missense_Mutation_p.T80A|FAM134C_ENST00000585894.1_Missense_Mutation_p.T178A	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	275						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGGCAACAGTAGAATCGTCC	0.468																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(823-825)Act>Gct		family with sequence similarity 134, member C							156.0	147.0	150.0					17																	40734812		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40734812T>C	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.823A>G	17.37:g.40734812T>C	ENSP00000309432:p.Thr275Ala		Somatic				FAM134C_ENST00000543197.1_Missense_Mutation_p.T80A|FAM134C_ENST00000585894.1_Missense_Mutation_p.T178A	p.T275A	NM_178126.3	NP_835227.1	WXS	Illumina GAIIx	Phase_I	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	8	882	-		Breast(137;0.00116)	275					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.823A>G	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.775055	0.31411	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.47869	0.83;0.87	6.17	0.423	0.16463	.	0.520734	0.22983	N	0.053300	T	0.30572	0.0769	N	0.25647	0.755	0.20307	N	0.999916	B	0.02656	0.0	B	0.01281	0.0	T	0.17684	-1.0361	10	0.20046	T	0.44	-24.3257	11.8508	0.52410	0.0:0.4903:0.0:0.5097	.	275	Q86VR2	F134C_HUMAN	A	275;80	ENSP00000309432:T275A;ENSP00000446235:T80A	ENSP00000309432:T275A	T	-	1	0	FAM134C	37988338	0.000000	0.05858	0.993000	0.49108	0.998000	0.95712	-0.453000	0.06778	-0.191000	0.10448	0.533000	0.62120	ACT		0.468	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		8	123	8	123	---	---	---	---
SLC16A3	9123	broad.mit.edu	37	17	80194039	80194039	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr17:80194039A>G	ENST00000581287.1	+	1	2477	c.155A>G	c.(154-156)gAg>gGg	p.E52G	SLC16A3_ENST00000392341.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000392339.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000584781.1_3'UTR|SLC16A3_ENST00000582743.1_Missense_Mutation_p.E52G	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	52					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	CTCATACAGGAGTTTGGGATC	0.622																																					Pancreas(52;652 1135 19190 37282 52456)	ENST00000581287.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(154-156)gAg>gGg		solute carrier family 16 (monocarboxylate transporter), member 3	Pyruvic acid(DB00119)						102.0	93.0	96.0					17																	80194039		2203	4300	6503	SO:0001583	missense	9123				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80194039A>G	U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.155A>G	17.37:g.80194039A>G	ENSP00000463978:p.Glu52Gly		Somatic				SLC16A3_ENST00000392339.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000392341.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000582743.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000584781.1_3'UTR	p.E52G	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	WXS	Illumina GAIIx	Phase_I	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		1	2477	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		52					B3KXG8|Q2M1P8	Missense_Mutation	SNP	ENST00000581287.1	37	c.155A>G	CCDS11804.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.007898	0.35415	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.60672	0.17;0.17	5.31	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.118759	0.64402	D	0.000008	T	0.73745	0.3626	M	0.85945	2.785	0.58432	D	0.999993	P;D	0.56035	0.949;0.974	P;D	0.67382	0.83;0.951	T	0.72097	-0.4393	10	0.22109	T	0.4	.	10.8491	0.46759	0.8586:0.0:0.0:0.1414	.	52;52	Q53G91;O15427	.;MOT4_HUMAN	G	52	ENSP00000376152:E52G;ENSP00000376150:E52G	ENSP00000376150:E52G	E	+	2	0	SLC16A3	77787328	1.000000	0.71417	0.520000	0.27837	0.470000	0.32858	7.336000	0.79245	0.832000	0.34804	0.460000	0.39030	GAG		0.622	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		4	108	4	108	---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12977541	12977541	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr19:12977541C>T	ENST00000251472.4	+	18	2143	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGTGGAAATCCGCCAGTTCTC	0.622																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2104-2106)Cgc>Tgc		microtubule associated serine/threonine kinase 1							86.0	57.0	67.0					19																	12977541		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12977541C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2104C>T	19.37:g.12977541C>T	ENSP00000251472:p.Arg702Cys		Somatic					p.R702C	NM_014975.2	NP_055790.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H9	MAST1_HUMAN			18	2143	+			702			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000251472.4	37	c.2104C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183731	0.78677	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.25085	1.82	4.84	4.84	0.62591	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.162179	0.41097	D	0.000952	T	0.47637	0.1456	M	0.79805	2.47	0.50467	D	0.999876	D	0.89917	1.0	P	0.62184	0.899	T	0.49925	-0.8887	10	0.56958	D	0.05	-28.4494	10.9883	0.47534	0.1866:0.8134:0.0:0.0	.	702	Q9Y2H9	MAST1_HUMAN	C	702	ENSP00000251472:R702C	ENSP00000251472:R702C	R	+	1	0	MAST1	12838541	0.012000	0.17670	1.000000	0.80357	0.997000	0.91878	0.222000	0.17699	2.405000	0.81733	0.557000	0.71058	CGC		0.622	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		4	33	4	33	---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54444804	54444804	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr19:54444804C>A	ENST00000391767.1	+	5	717	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	CACNG7_ENST00000222212.2_Missense_Mutation_p.Q169K|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.Q169K			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	169					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CAGCTCTGAGCAGTATTTTCA	0.547																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(505-507)Cag>Aag		calcium channel, voltage-dependent, gamma subunit 7							169.0	146.0	154.0					19																	54444804		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54444804C>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.505C>A	19.37:g.54444804C>A	ENSP00000375647:p.Gln169Lys		Somatic				CACNG7_ENST00000222212.2_Missense_Mutation_p.Q169K|CACNG7_ENST00000391766.1_Missense_Mutation_p.Q169K|CACNG7_ENST00000468076.1_3'UTR	p.Q169K			WXS	Illumina GAIIx	Phase_I	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	5	717	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		169					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.505C>A	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	9.624	1.134513	0.21123	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	T;T;T	0.75260	0.04;0.04;-0.92	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	N	0.05078	-0.115	0.80722	D	1	P	0.36086	0.536	B	0.37550	0.253	T	0.57676	-0.7770	10	0.02654	T	1	-17.9555	15.4355	0.75143	0.0:1.0:0.0:0.0	.	169	P62955	CCG7_HUMAN	K	169	ENSP00000375647:Q169K;ENSP00000222212:Q169K;ENSP00000375646:Q169K	ENSP00000222212:Q169K	Q	+	1	0	CACNG7	59136616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.348000	0.33987	2.323000	0.78572	0.462000	0.41574	CAG		0.547	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			7	103	7	103	---	---	---	---
UBASH3A	53347	broad.mit.edu	37	21	43838616	43838616	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr21:43838616A>T	ENST00000319294.6	+	7	975	c.944A>T	c.(943-945)gAg>gTg	p.E315V	RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Missense_Mutation_p.E277V|UBASH3A_ENST00000398367.1_Missense_Mutation_p.E277V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	315	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GAAGCCAGCGAGGGCTGGGTG	0.592																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(943-945)gAg>gTg		ubiquitin associated and SH3 domain containing A							69.0	70.0	69.0					21																	43838616		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43838616A>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.944A>T	21.37:g.43838616A>T	ENSP00000317327:p.Glu315Val		Somatic				UBASH3A_ENST00000291535.6_Missense_Mutation_p.E277V|UBASH3A_ENST00000398367.1_Missense_Mutation_p.E277V	p.E315V	NM_018961.3	NP_061834.1	WXS	Illumina GAIIx	Phase_I	P57075	UBS3A_HUMAN			7	975	+			315			SH3.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.944A>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424269	0.83667	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.54071	0.59;0.59;0.59	5.13	3.96	0.45880	Src homology-3 domain (4);	0.091193	0.47455	D	0.000228	T	0.70351	0.3214	M	0.85630	2.765	0.80722	D	1	P;P;D	0.56035	0.943;0.943;0.974	P;P;P	0.60068	0.761;0.839;0.868	T	0.74028	-0.3796	10	0.87932	D	0	-26.0792	11.3579	0.49625	0.8641:0.0:0.0:0.1359	.	277;277;315	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	V	277;315;277	ENSP00000291535:E277V;ENSP00000317327:E315V;ENSP00000381408:E277V	ENSP00000291535:E277V	E	+	2	0	UBASH3A	42711685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.437000	0.90302	0.780000	0.33566	0.482000	0.46254	GAG		0.592	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		7	86	7	86	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187446240	187446240	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr3:187446240delG	ENST00000406870.2	-	6	1814	c.1448delC	c.(1447-1449)ccafs	p.P483fs	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Frame_Shift_Del_p.P483fs|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.P483fs	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	483					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGCATGCTGTGGGGACTGAGA	0.617			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1447-1449)ccafs		B-cell CLL/lymphoma 6							72.0	61.0	64.0					3																	187446240		2203	4300	6503	SO:0001589	frameshift_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187446240delG		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1448delC	3.37:g.187446240delG	ENSP00000384371:p.Pro483fs		Somatic				BCL6_ENST00000450123.2_Frame_Shift_Del_p.P483fs|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.P483fs	p.P483fs	NM_001706.4	NP_001697.2	WXS	Illumina GAIIx	Phase_I	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	6	1814	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		483					A7E241|B8PSA7|D3DNV5	Frame_Shift_Del	DEL	ENST00000406870.2	37	c.1448delC	CCDS3289.1																																																																																				0.617	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		2	4	2	4	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43173002	43173002	+	Splice_Site	DEL	T	T	-			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr6:43173002delT	ENST00000252050.4	+	24	4718	c.4634delT	c.(4633-4635)atg>ag	p.M1545fs	CUL9_ENST00000372647.2_Splice_Site_p.M1545fs|CUL9_ENST00000354495.3_Splice_Site_p.M1435fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1545					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCCCCCAGATGAGTGAGCAG	0.572																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4633-4635)atg>ag		cullin 9							167.0	168.0	168.0					6																	43173002		2203	4300	6503	SO:0001630	splice_region_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43173002delT	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4633-1T>-	6.37:g.43173002delT			Somatic				CUL9_ENST00000372647.2_Splice_Site_p.M1545fs|CUL9_ENST00000354495.3_Splice_Site_p.M1435fs	p.M1545fs	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			24	4718	+			1545					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Splice_Site	DEL	ENST00000252050.4	37	c.4634delT	CCDS4890.1																																																																																				0.572	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	Frame_Shift_Del	16	238	16	238	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23906843	23906852	+	Frame_Shift_Del	DEL	AAGGTCACTA	AAGGTCACTA	-			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr13:23906843_23906852delAAGGTCACTA	ENST00000382292.3	-	9	11436_11445	c.11163_11172delTAGTGACCTT	c.(11161-11172)ggtagtgaccttfs	p.GSDL3721fs	SACS_ENST00000382298.3_Frame_Shift_Del_p.GSDL3721fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.GSDL2971fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3721					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTGTGGACCAAGGTCACTACCTTCTTGTT	0.386																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(11161-11172)ggtagtgaccttfs		spastic ataxia of Charlevoix-Saguenay (sacsin)																																				SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906843_23906852delAAGGTCACTA	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11163_11172delTAGTGACCTT	13.37:g.23906843_23906852delAAGGTCACTA	ENSP00000371729:p.Gly3721fs		Somatic				SACS_ENST00000382292.3_Frame_Shift_Del_p.GSDL3721fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.GSDL2971fs	p.GSDL3721fs	NM_014363.4	NP_055178.3	WXS	Illumina GAIIx	Phase_I	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	11751_11760	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3721					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.11163_11172delTAGTGACCTT	CCDS9300.2																																																																																				0.386	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	94	7	94	---	---	---	---
