#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
EEF2K	29904	broad.mit.edu	37	16	22268604	22268604	+	Missense_Mutation	SNP	G	G	A	rs371880159		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr16:22268604G>A	ENST00000263026.5	+	8	1273	c.799G>A	c.(799-801)Ggc>Agc	p.G267S		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	267	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGAGCGTTCCGGCCATCAGCT	0.572																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(799-801)Ggc>Agc		eukaryotic elongation factor-2 kinase		G	SER/GLY	0,4394		0,0,2197	134.0	113.0	120.0		799	5.9	1.0	16		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	EEF2K	NM_013302.3	56	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	267/726	22268604	1,12993	2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268604G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.799G>A	16.37:g.22268604G>A	ENSP00000263026:p.Gly267Ser						p.G267S	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	8	1273	+			267			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.799G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	36	5.724899	0.96847	0.0	1.16E-4	ENSG00000103319	ENST00000263026	T	0.07800	3.16	5.87	5.87	0.94306	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.048066	0.85682	D	0.000000	T	0.26774	0.0655	M	0.66506	2.035	0.80722	D	1	D	0.63046	0.992	P	0.59546	0.859	T	0.00044	-1.2222	10	0.54805	T	0.06	-11.8672	20.2191	0.98319	0.0:0.0:1.0:0.0	.	267	O00418	EF2K_HUMAN	S	267	ENSP00000263026:G267S	ENSP00000263026:G267S	G	+	1	0	EEF2K	22176105	1.000000	0.71417	0.980000	0.43619	0.968000	0.65278	9.185000	0.94900	2.780000	0.95670	0.655000	0.94253	GGC		0.572	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		5	30	0	0	0	1	0	5	30				
SLC16A5	9121	broad.mit.edu	37	17	73096383	73096383	+	Missense_Mutation	SNP	G	G	A	rs61735759		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr17:73096383G>A	ENST00000450736.2	+	4	1040	c.625G>A	c.(625-627)Gag>Aag	p.E209K	SLC16A5_ENST00000329783.4_Missense_Mutation_p.E209K|SLC16A5_ENST00000580123.1_Missense_Mutation_p.E209K|SLC16A5_ENST00000538213.2_Missense_Mutation_p.E249K			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	209					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCCACCTCCCGAGACACCTGC	0.637																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(625-627)Gag>Aag		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	60.0	55.0	57.0		625	2.2	0.1	17	dbSNP_129	57	0,8600		0,0,4300	no	missense	SLC16A5	NM_004695.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	209/506	73096383	1,13005	2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096383G>A	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.625G>A	17.37:g.73096383G>A	ENSP00000390564:p.Glu209Lys					SLC16A5_ENST00000538213.2_Missense_Mutation_p.E249K|SLC16A5_ENST00000580123.1_Missense_Mutation_p.E209K|SLC16A5_ENST00000329783.4_Missense_Mutation_p.E209K	p.E209K			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1040	+	all_lung(278;0.226)		209					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.625G>A	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	3.324	-0.138157	0.06669	2.27E-4	0.0	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.56776	0.44;0.44;0.44	4.58	2.17	0.27698	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.857501	0.10673	N	0.647319	T	0.16171	0.0389	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30822	-0.9965	10	0.07175	T	0.84	.	4.7462	0.13038	0.522:0.1588:0.3191:0.0	.	249;209	B4E288;O15375	.;MOT6_HUMAN	K	209;209;249	ENSP00000330141:E209K;ENSP00000390564:E209K;ENSP00000440212:E249K	ENSP00000330141:E209K	E	+	1	0	SLC16A5	70607978	0.837000	0.29446	0.140000	0.22221	0.102000	0.19082	1.345000	0.33953	0.704000	0.31869	-0.459000	0.05422	GAG		0.637	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		3	22	0	0	0	1	0	3	22				
GSTO1	9446	broad.mit.edu	37	10	106019439	106019439	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr10:106019439C>G	ENST00000369713.5	+	3	443	c.249C>G	c.(247-249)atC>atG	p.I83M	GSTO1_ENST00000369710.4_Missense_Mutation_p.I83M|GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000539281.1_Missense_Mutation_p.I55M	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	83	GST N-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	GTCAGCTGATCTACGAGTCTG	0.463																																						ENST00000539281.1																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(163-165)atC>atG		glutathione S-transferase omega 1	Glutathione(DB00143)						117.0	116.0	116.0					10																	106019439		2203	4300	6503	SO:0001583	missense	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106019439C>G	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.249C>G	10.37:g.106019439C>G	ENSP00000358727:p.Ile83Met					GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.I83M|GSTO1_ENST00000369713.5_Missense_Mutation_p.I83M	p.I55M	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	3	521	+		Colorectal(252;0.102)|Breast(234;0.122)	83			GST N-terminal.		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	ENST00000369713.5	37	c.165C>G	CCDS7555.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772896	0.49680	.	.	ENSG00000148834	ENST00000539281;ENST00000369710;ENST00000369713;ENST00000445155;ENST00000432659	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.66	2.78	0.32641	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.187820	0.56097	D	0.000034	T	0.52869	0.1761	M	0.83312	2.635	0.54753	D	0.999982	D	0.76494	0.999	D	0.80764	0.994	T	0.51834	-0.8655	10	0.87932	D	0	-8.9637	7.2905	0.26364	0.0:0.6746:0.123:0.2025	.	83	P78417	GSTO1_HUMAN	M	55;83;83;55;55	ENSP00000441488:I55M;ENSP00000358724:I83M;ENSP00000358727:I83M;ENSP00000406708:I55M;ENSP00000405325:I55M	ENSP00000358724:I83M	I	+	3	3	GSTO1	106009429	0.958000	0.32768	0.008000	0.14137	0.736000	0.42039	0.876000	0.28092	0.408000	0.25621	-0.136000	0.14681	ATC		0.463	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		14	44	0	0	0	1	0	14	44				
GJA8	2703	broad.mit.edu	37	1	147380281	147380281	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr1:147380281G>A	ENST00000369235.1	+	1	199	c.199G>A	c.(199-201)Gac>Aac	p.D67N	GJA8_ENST00000240986.4_Missense_Mutation_p.D67N			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	67			D -> G (in CTRCT1). {ECO:0000269|PubMed:23508780}.		cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.D67N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGTCTGCTACGACGAGGCCTT	0.612																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			1	Substitution - Missense(1)	p.D67N(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(199-201)Gac>Aac		gap junction protein, alpha 8, 50kDa							145.0	112.0	123.0					1																	147380281		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380281G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.199G>A	1.37:g.147380281G>A	ENSP00000358238:p.Asp67Asn					GJA8_ENST00000369235.1_Missense_Mutation_p.D67N	p.D67N	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	252	+	all_hematologic(923;0.0276)		67					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.199G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	31	5.087785	0.94100	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99409	-5.85;-5.85	5.2	5.2	0.72013	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99282	1.0896	10	0.87932	D	0	.	18.721	0.91692	0.0:0.0:1.0:0.0	.	67	P48165	CXA8_HUMAN	N	67	ENSP00000240986:D67N;ENSP00000358238:D67N	ENSP00000240986:D67N	D	+	1	0	GJA8	145846905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.941000	0.87700	2.409000	0.81822	0.491000	0.48974	GAC		0.612	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		13	42	0	0	0	1	0	13	42				
LPA	4018	broad.mit.edu	37	6	160998309	160998309	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr6:160998309G>A	ENST00000316300.5	-	28	4534	c.4490C>T	c.(4489-4491)cCt>cTt	p.P1497L	LPA_ENST00000447678.1_Missense_Mutation_p.P1497L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4005	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGACCACAGGGCTTTTCTC	0.428																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4489-4491)cCt>cTt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						99.0	105.0	103.0					6																	160998309		2191	4297	6488	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160998309G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4490C>T	6.37:g.160998309G>A	ENSP00000321334:p.Pro1497Leu					LPA_ENST00000316300.5_Missense_Mutation_p.P1497L	p.P1497L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	29	4610	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4005			Kringle 13.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4490C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	10.36	1.327546	0.24080	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61392	0.11;0.11	2.39	1.33	0.21861	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.61135	0.2323	M	0.82923	2.615	0.27265	N	0.958537	P	0.51147	0.942	D	0.66497	0.944	T	0.46775	-0.9167	9	0.52906	T	0.07	.	5.5302	0.16980	0.0:0.0:0.6729:0.3271	.	4005	P08519	APOA_HUMAN	L	1497	ENSP00000321334:P1497L;ENSP00000395608:P1497L	ENSP00000321334:P1497L	P	-	2	0	LPA	160918299	0.943000	0.32029	0.960000	0.40013	0.259000	0.26198	2.511000	0.45476	1.318000	0.45170	0.195000	0.17529	CCT		0.428	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		17	91	0	0	0	1	0	17	91				
OPCML	4978	broad.mit.edu	37	11	132306614	132306614	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr11:132306614G>T	ENST00000331898.7	-	5	1302	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.L235M|OPCML_ENST00000541867.1_Missense_Mutation_p.L242M|OPCML_ENST00000374778.4_Missense_Mutation_p.L201M	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	242	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCACAGCTCAGGATGCCCTTC	0.502																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(724-726)Ctg>Atg		opioid binding protein/cell adhesion molecule-like							133.0	115.0	121.0					11																	132306614		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306614G>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.724C>A	11.37:g.132306614G>T	ENSP00000330862:p.Leu242Met					OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.L235M|OPCML_ENST00000374778.4_Missense_Mutation_p.L201M|OPCML_ENST00000541867.1_Missense_Mutation_p.L242M	p.L242M	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	5	1302	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	242			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.724C>A	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628729	0.67015	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.68	-4.03	0.04021	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000001	D	0.90553	0.7039	M	0.89968	3.075	0.45502	D	0.998462	D;D;D;D	0.76494	0.988;0.988;0.988;0.999	D;D;D;D	0.73380	0.971;0.971;0.971;0.98	D	0.89950	0.4079	10	0.87932	D	0	-12.3761	14.6521	0.68805	0.188:0.0:0.812:0.0	.	242;235;241;242	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	M	242;235;201;209;242	ENSP00000330862:L242M;ENSP00000434750:L235M;ENSP00000363910:L201M;ENSP00000445496:L242M	ENSP00000330862:L242M	L	-	1	2	OPCML	131811824	1.000000	0.71417	0.905000	0.35620	0.859000	0.49053	1.286000	0.33273	-1.028000	0.03321	0.650000	0.86243	CTG		0.502	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		3	33	1	0	6.4e-05	1	7.31429e-05	3	33				
KCNN3	3782	broad.mit.edu	37	1	154841694	154841694	+	Silent	SNP	G	G	A	rs558590709		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr1:154841694G>A	ENST00000271915.4	-	1	1062	c.747C>T	c.(745-747)acC>acT	p.T249T	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	254					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TGCTGCTGGCGGTGGTGCCGG	0.582																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(745-747)acC>acT		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							105.0	101.0	102.0					1																	154841694		2203	4300	6503	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154841694G>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.747C>T	1.37:g.154841694G>A							p.T249T	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	1062	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		254					B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.747C>T	CCDS30880.1																																																																																				0.582	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		5	54	0	0	0	1	0	5	54				
TEKT5	146279	broad.mit.edu	37	16	10729651	10729651	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr16:10729651A>C	ENST00000283025.2	-	6	1282	c.1211T>G	c.(1210-1212)aTg>aGg	p.M404R	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	404						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCACAGCTCCATGTTGGGGCG	0.622																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(1210-1212)aTg>aGg		tektin 5							97.0	103.0	101.0					16																	10729651		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10729651A>C		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1211T>G	16.37:g.10729651A>C	ENSP00000283025:p.Met404Arg					TEKT5_ENST00000574923.1_5'UTR	p.M404R	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			6	1282	-			404					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.1211T>G	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337044	0.60963	.	.	ENSG00000153060	ENST00000283025	T	0.02631	4.22	4.56	4.56	0.56223	.	0.373885	0.23010	N	0.052970	T	0.05731	0.0150	L	0.49126	1.545	0.28905	N	0.893011	B	0.33266	0.404	B	0.40101	0.319	T	0.03695	-1.1012	10	0.87932	D	0	-24.5501	12.7601	0.57359	1.0:0.0:0.0:0.0	.	404	Q96M29	TEKT5_HUMAN	R	404	ENSP00000283025:M404R	ENSP00000283025:M404R	M	-	2	0	TEKT5	10637152	0.994000	0.37717	0.988000	0.46212	0.837000	0.47467	8.638000	0.91019	1.699000	0.51192	0.454000	0.30748	ATG		0.622	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		14	95	0	0	0	1	0	14	95				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	27	0	0	0	1	0	4	27				
ABCA13	154664	broad.mit.edu	37	7	48390281	48390281	+	Missense_Mutation	SNP	C	C	T	rs370018894		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr7:48390281C>T	ENST00000435803.1	+	30	10270	c.10246C>T	c.(10246-10248)Cgc>Tgc	p.R3416C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3416					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGGCGCTGGACGCTTCCGTTT	0.527																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(10246-10248)Cgc>Tgc		ATP-binding cassette, sub-family A (ABC1), member 13		C	CYS/ARG	0,4118		0,0,2059	161.0	160.0	160.0		10246	3.8	0.0	7		160	1,8425		0,1,4212	no	missense	ABCA13	NM_152701.3	180	0,1,6271	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	3416/5059	48390281	1,12543	2059	4213	6272	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48390281C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10246C>T	7.37:g.48390281C>T	ENSP00000411096:p.Arg3416Cys						p.R3416C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			30	10270	+			3416					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10246C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670882	0.47781	0.0	1.19E-4	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	4.66	3.77	0.43336	.	1.013390	0.07924	N	0.976401	D	0.84224	0.5425	L	0.44542	1.39	0.24401	N	0.994707	D;D	0.61697	0.965;0.99	P;P	0.47075	0.481;0.536	T	0.72327	-0.4327	10	0.72032	D	0.01	.	11.7247	0.51702	0.1757:0.8243:0.0:0.0	.	1118;3416	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	C	3416	ENSP00000411096:R3416C	ENSP00000411096:R3416C	R	+	1	0	ABCA13	48360827	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.578000	0.23773	0.910000	0.36722	0.655000	0.94253	CGC		0.527	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	54	0	0	0	1	0	3	54				
NCAN	1463	broad.mit.edu	37	19	19338368	19338368	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr19:19338368C>A	ENST00000252575.6	+	8	2038	c.1939C>A	c.(1939-1941)Ccc>Acc	p.P647T	NCAN_ENST00000538881.1_Missense_Mutation_p.P98T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	647					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCTACCACACCCCACCCCCAT	0.632																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1939-1941)Ccc>Acc		neurocan							68.0	66.0	67.0					19																	19338368		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338368C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1939C>A	19.37:g.19338368C>A	ENSP00000252575:p.Pro647Thr					NCAN_ENST00000538881.1_Missense_Mutation_p.P98T	p.P647T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	1982	+			647					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1939C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	9.563	1.118959	0.20877	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.86769	-1.91;-2.17	4.4	1.02	0.19986	.	0.678119	0.12264	N	0.484464	T	0.74816	0.3766	N	0.24115	0.695	0.09310	N	1	B;B	0.27823	0.19;0.041	B;B	0.30029	0.11;0.037	T	0.58983	-0.7539	10	0.18276	T	0.48	-0.107	5.4929	0.16787	0.0:0.5439:0.0:0.4561	.	661;647	Q4LE67;O14594	.;NCAN_HUMAN	T	661;647;98	ENSP00000252575:P647T;ENSP00000442202:P98T	ENSP00000252575:P647T	P	+	1	0	NCAN	19199368	0.003000	0.15002	0.008000	0.14137	0.006000	0.05464	0.294000	0.19047	0.148000	0.19059	-1.036000	0.02392	CCC		0.632	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		3	43	1	0	0.115264	1	0.115264	3	43				
ATP5G3	518	broad.mit.edu	37	2	176043113	176043113	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr2:176043113T>C	ENST00000284727.4	-	5	3356	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	Y_RNA_ENST00000363251.1_RNA|ATP5G3_ENST00000409194.1_Missense_Mutation_p.Q111R|ATP5G3_ENST00000392541.3_Missense_Mutation_p.Q111R	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	111					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GAACAGCTGCTGCTTCAGCGA	0.363																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(331-333)cAg>cGg		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							115.0	109.0	111.0					2																	176043113		2203	4300	6503	SO:0001583	missense	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176043113T>C	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.332A>G	2.37:g.176043113T>C	ENSP00000284727:p.Gln111Arg					ATP5G3_ENST00000392541.3_Missense_Mutation_p.Q111R|ATP5G3_ENST00000409194.1_Missense_Mutation_p.Q111R	p.Q111R	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		5	3356	-			111					B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	c.332A>G	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602382	0.87157	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.41758	0.99;0.99;0.99	5.93	5.93	0.95920	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	L	0.54863	1.705	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.61700	-0.7009	10	0.62326	D	0.03	-0.9338	16.3943	0.83563	0.0:0.0:0.0:1.0	.	111	P48201	AT5G3_HUMAN	R	111	ENSP00000284727:Q111R;ENSP00000387317:Q111R;ENSP00000376324:Q111R	ENSP00000284727:Q111R	Q	-	2	0	ATP5G3	175751359	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.992000	0.88273	2.281000	0.76405	0.533000	0.62120	CAG		0.363	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		7	56	0	0	0	1	0	7	56				
MORN4	118812	broad.mit.edu	37	10	99377062	99377062	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr10:99377062C>T	ENST00000307450.6	-	3	248	c.85G>A	c.(85-87)Ggt>Agt	p.G29S	MORN4_ENST00000478953.1_Missense_Mutation_p.G29S|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000335628.3_Missense_Mutation_p.G87S|PI4K2A_ENST00000370649.3_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	29										large_intestine(1)|lung(1)|stomach(2)	4						ATCAGTTGACCAAAACCATGC	0.498																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(259-261)Ggt>Agt		MORN repeat containing 4							134.0	126.0	129.0					10																	99377062		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99377062C>T	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.85G>A	10.37:g.99377062C>T	ENSP00000307636:p.Gly29Ser					PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.G29S|MORN4_ENST00000478953.1_Missense_Mutation_p.G29S|PI4K2A_ENST00000555577.1_Intron	p.G87S			Q8NDC4	MORN4_HUMAN			2	258	-			29					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.259G>A	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	C	36	5.740969	0.96873	.	.	ENSG00000171160	ENST00000307450;ENST00000478953;ENST00000515674;ENST00000335628	D;D;T	0.95885	-3.84;-3.84;0.36	6.07	6.07	0.98685	.	0.049002	0.85682	D	0.000000	D	0.98839	0.9608	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98945	1.0792	10	0.87932	D	0	-23.5316	20.6439	0.99570	0.0:1.0:0.0:0.0	.	87;29	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	S	29;29;29;87	ENSP00000307636:G29S;ENSP00000441070:G29S;ENSP00000335498:G87S	ENSP00000307636:G29S	G	-	1	0	MORN4	99367052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.781000	0.85668	2.884000	0.98904	0.655000	0.94253	GGT		0.498	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		12	75	0	0	0	1	0	12	75				
ATP12A	479	broad.mit.edu	37	13	25266991	25266991	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr13:25266991G>A	ENST00000381946.3	+	10	1501	c.1334G>A	c.(1333-1335)cGa>cAa	p.R445Q	ATP12A_ENST00000218548.6_Missense_Mutation_p.R451Q			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	445					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R445L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTGTGTAACCGAGCAGAGTTC	0.463																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - Missense(1)	p.R445L(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1351-1353)cGa>cAa		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						196.0	187.0	190.0					13																	25266991		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25266991G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1334G>A	13.37:g.25266991G>A	ENSP00000371372:p.Arg445Gln					ATP12A_ENST00000381946.3_Missense_Mutation_p.R445Q	p.R451Q	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	10	1685	+		Lung SC(185;0.0225)|Breast(139;0.077)	445					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1352G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050677	0.93740	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.95756	-3.8;-3.8	5.65	5.65	0.86999	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000008	D	0.96956	0.9006	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.999;0.989	P;B	0.59761	0.863;0.434	D	0.97311	0.9937	10	0.87932	D	0	.	17.2166	0.86946	0.0:0.0:1.0:0.0	.	451;445	P54707-2;P54707	.;AT12A_HUMAN	Q	451;445	ENSP00000218548:R451Q;ENSP00000371372:R445Q	ENSP00000218548:R451Q	R	+	2	0	ATP12A	24164991	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	7.378000	0.79679	2.667000	0.90743	0.655000	0.94253	CGA		0.463	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		22	131	0	0	0	1	0	22	131				
BCCIP	56647	broad.mit.edu	37	10	127512145	127512145	+	Missense_Mutation	SNP	C	C	G	rs138579130		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr10:127512145C>G	ENST00000278100.6	+	1	31	c.19C>G	c.(19-21)Cgg>Ggg	p.R7G	UROS_ENST00000368778.3_5'Flank|UROS_ENST00000368774.1_5'Flank|UROS_ENST00000368797.4_5'Flank|BCCIP_ENST00000429863.2_Missense_Mutation_p.R7G|BCCIP_ENST00000368759.5_Missense_Mutation_p.R7G|BCCIP_ENST00000299130.3_Missense_Mutation_p.R7G	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	7					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGGTCTAAGCGGCGTGCCGT	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17417	0.0		0.0	False		,,,				2504	0.0					ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(19-21)Cgg>Ggg		BRCA2 and CDKN1A interacting protein		C	GLY/ARG,GLY/ARG,GLY/ARG	0,4406		0,0,2203	108.0	114.0	112.0		19,19,19	-3.0	0.0	10	dbSNP_134	112	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	BCCIP	NM_016567.3,NM_078468.2,NM_078469.2	125,125,125	0,3,6500	GG,GC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	7/323,7/315,7/293	127512145	3,13003	2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127512145C>G	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.19C>G	10.37:g.127512145C>G	ENSP00000278100:p.Arg7Gly					BCCIP_ENST00000429863.2_Missense_Mutation_p.R7G|BCCIP_ENST00000368759.5_Missense_Mutation_p.R7G|BCCIP_ENST00000278100.6_Missense_Mutation_p.R7G	p.R7G	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			1	31	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	7					B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.19C>G	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501840	0.64298	0.0	3.49E-4	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.53423	0.77;0.67;0.62;0.69	5.05	-2.98	0.05513	.	0.132002	0.47852	D	0.000205	T	0.27205	0.0667	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.46064	0.649;0.649;0.872;0.761;0.499	B;B;P;B;B	0.49085	0.253;0.199;0.6;0.363;0.067	T	0.29671	-1.0004	10	0.87932	D	0	-2.1449	4.3624	0.11208	0.5875:0.2202:0.1054:0.0868	.	7;7;7;7;7	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	G	7	ENSP00000278100:R7G;ENSP00000299130:R7G;ENSP00000357748:R7G;ENSP00000394758:R7G	ENSP00000278100:R7G	R	+	1	2	BCCIP	127502135	0.995000	0.38212	0.000000	0.03702	0.009000	0.06853	0.168000	0.16622	-0.436000	0.07254	0.561000	0.74099	CGG		0.612	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			14	60	0	0	0	1	0	14	60				
PEAK1	79834	broad.mit.edu	37	15	77406832	77406832	+	Missense_Mutation	SNP	C	C	T	rs200619883		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr15:77406832C>T	ENST00000560626.2	-	7	5382	c.4907G>A	c.(4906-4908)cGg>cAg	p.R1636Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1636Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1636	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTGCAGACCCCGGGAGTAGGG	0.602																																						ENST00000560626.2																			0											c.(4906-4908)cGg>cAg		pseudopodium-enriched atypical kinase 1							55.0	59.0	57.0					15																	77406832		1929	4127	6056	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77406832C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4907G>A	15.37:g.77406832C>T	ENSP00000452796:p.Arg1636Gln					PEAK1_ENST00000312493.4_Missense_Mutation_p.R1636Q	p.R1636Q			Q9H792	PEAK1_HUMAN			7	5382	-			1636			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4907G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	9.483	1.098650	0.20552	.	.	ENSG00000173517	ENST00000312493	T	0.64803	-0.12	5.57	3.58	0.41010	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.373801	0.25156	U	0.032707	T	0.32010	0.0815	N	0.08118	0	0.24154	N	0.995684	B	0.10296	0.003	B	0.04013	0.001	T	0.11397	-1.0589	10	0.11485	T	0.65	-2.9805	3.1669	0.06539	0.1444:0.5535:0.1401:0.162	.	1636	Q9H792	PEAK1_HUMAN	Q	1636	ENSP00000309230:R1636Q	ENSP00000309230:R1636Q	R	-	2	0	AC087465.1	75193887	0.212000	0.23540	0.998000	0.56505	0.986000	0.74619	1.211000	0.32382	1.361000	0.45981	0.561000	0.74099	CGG		0.602	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			6	24	0	0	0	1	0	6	24				
SOAT1	6646	broad.mit.edu	37	1	179310184	179310184	+	Silent	SNP	C	C	A			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr1:179310184C>A	ENST00000367619.3	+	7	662	c.519C>A	c.(517-519)ctC>ctA	p.L173L	SOAT1_ENST00000535686.1_De_novo_Start_OutOfFrame|SOAT1_ENST00000539888.1_Silent_p.L108L|SOAT1_ENST00000540564.1_Silent_p.L115L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	173					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AGTTCAGCCTCCTGTCTTATG	0.393																																						ENST00000535686.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20								sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						124.0	116.0	118.0					1																	179310184		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179310184C>A	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.519C>A	1.37:g.179310184C>A						SOAT1_ENST00000540564.1_Silent_p.L115L|SOAT1_ENST00000367619.3_Silent_p.L173L|SOAT1_ENST00000539888.1_Silent_p.L108L				P35610	SOAT1_HUMAN			0	482	+								A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Translation_Start_Site	SNP	ENST00000367619.3	37		CCDS1330.1																																																																																				0.393	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		9	40	1	0	0.00448238	1	0.00488987	9	40				
MYH2	4620	broad.mit.edu	37	17	10428898	10428898	+	Silent	SNP	C	C	T	rs144654838		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr17:10428898C>T	ENST00000245503.5	-	32	4791	c.4407G>A	c.(4405-4407)acG>acA	p.T1469T	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.T1469T|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1469					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCAGCATGCGTTTCCTCAC	0.463																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4405-4407)acG>acA		myosin, heavy chain 2, skeletal muscle, adult		C	,	0,4406		0,0,2203	71.0	74.0	73.0		4407,4407	-10.4	0.2	17	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	1469/1942,1469/1942	10428898	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428898C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4407G>A	17.37:g.10428898C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.T1469T|CTC-297N7.7_ENST00000399342.2_RNA	p.T1469T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			32	4791	-			1469					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.4407G>A	CCDS11156.1																																																																																				0.463	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		9	42	0	0	0	1	0	9	42				
CAND2	23066	broad.mit.edu	37	3	12845101	12845101	+	Silent	SNP	C	C	T			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr3:12845101C>T	ENST00000456430.2	+	2	224	c.183C>T	c.(181-183)aaC>aaT	p.N61N	CAND2_ENST00000295989.5_Silent_p.N61N	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	61					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGACAAGAACGGTGAGGTGC	0.622																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(181-183)aaC>aaT		cullin-associated and neddylation-dissociated 2 (putative)							54.0	59.0	58.0					3																	12845101		2203	4300	6503	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12845101C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.183C>T	3.37:g.12845101C>T						CAND2_ENST00000295989.5_Silent_p.N61N	p.N61N	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			2	224	+			61					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.183C>T	CCDS54554.1																																																																																				0.622	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		4	36	0	0	0	1	0	4	36				
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			0							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	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118112112	118112112	+	Intron	DEL	G	G	-			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr12:118112112delG	ENST00000339824.5	-	5	1714				KSR2_ENST00000425217.1_Intron|KSR2_ENST00000302438.5_Frame_Shift_Del_p.P18fs|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2						intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					cctcctcgctggaatcgcaga	0.418																																						ENST00000302438.5																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(52-54)cafs		kinase suppressor of ras 2							25.0	20.0	22.0					12																	118112112		876	1991	2867	SO:0001627	intron_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118112112delG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.987-6649C>-	12.37:g.118112112delG						KSR2_ENST00000339824.5_Intron|KSR2_ENST00000425217.1_Intron|KSR2_ENST00000545002.1_5'UTR	p.P18fs			Q6VAB6	KSR2_HUMAN			2	52	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		0					A0PJT2|Q3B828|Q8N775	Frame_Shift_Del	DEL	ENST00000339824.5	37	c.53delC																																																																																					0.418	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		2	4						2	4	---	---	---	---
KTN1-AS1	100129075	broad.mit.edu	37	14	56014172	56014174	+	RNA	DEL	AAG	AAG	-	rs375963888|rs372958232		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr14:56014172_56014174delAAG	ENST00000554558.1	-	0	364							Q86SY8	KTAS1_HUMAN	KTN1 antisense RNA 1																		aaaaaaaaaaaagaaTTGGCACA	0.443																																						ENST00000554558.1																			0																																																			0							g.chr14:56014172_56014174delAAG			14q22.3	2012-10-12	2012-08-15	2011-12-07	ENSG00000186615	ENSG00000186615		"""Long non-coding RNAs"""	19842	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 33"", ""KTN1 antisense RNA 1 (non-protein coding)"""	C14orf33			Standard	NR_027123		Approved		uc001xbz.2	Q86SY8	OTTHUMG00000171057		14.37:g.56014172_56014174delAAG														0	364	-									RNA	DEL	ENST00000554558.1	37																																																																																						0.443	KTN1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000411452.1	NR_027123		2	4						2	4	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	5						4	5	---	---	---	---
