#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
FABP3	2170	broad.mit.edu	37	1	31845845	31845845	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr1:31845845A>C	ENST00000373713.2	-	1	78	c.17T>G	c.(16-18)cTg>cGg	p.L6R		NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	6					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)	p.L6R(1)		large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		CCAGGTGCCCAGGAAAGCGTC	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											86.0	74.0	78.0					1																	31845845		2203	4300	6503	31618432	SO:0001583	missense	2170			U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"""Fatty acid binding protein family"""	3557	protein-coding gene	gene with protein product		134651	"""fatty acid binding protein 11"""	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.17T>G	1.37:g.31845845A>C	ENSP00000362817:p.Leu6Arg		31618432	B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	ENST00000373713.2	37	CCDS342.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429239	0.43122	.	.	ENSG00000121769	ENST00000373713	T	0.46451	0.87	4.71	-0.0626	0.13780	Calycin-like (1);Cytosolic fatty-acid binding (1);Calycin (1);	0.634934	0.15892	N	0.239524	T	0.43299	0.1241	M	0.67397	2.05	0.09310	N	1	B	0.29212	0.237	B	0.38755	0.281	T	0.48875	-0.8996	10	0.72032	D	0.01	.	7.9016	0.29738	0.5094:0.0:0.4906:0.0	.	6	P05413	FABPH_HUMAN	R	6	ENSP00000362817:L6R	ENSP00000362817:L6R	L	-	2	0	FABP3	31618432	0.000000	0.05858	0.246000	0.24233	0.937000	0.57800	-0.525000	0.06214	0.092000	0.17331	0.529000	0.55759	CTG		0.612	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102	
TIMELESS	8914	broad.mit.edu	37	12	56824745	56824745	+	Silent	SNP	G	G	T	rs267603584		TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr12:56824745G>T	ENST00000553532.1	-	9	979	c.829C>A	c.(829-831)Cga>Aga	p.R277R	TIMELESS_ENST00000229201.4_Silent_p.R276R|TIMELESS_ENST00000554616.1_Silent_p.R277R					timeless circadian clock									p.R277R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCCCCAAATCGAGAATGCCTG	0.438																																																1	Substitution - coding silent(1)	ovary(1)	12											101.0	104.0	103.0					12																	56824745		2203	4300	6503	55111012	SO:0001819	synonymous_variant	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.829C>A	12.37:g.56824745G>T			55111012		Silent	SNP	ENST00000553532.1	37	CCDS8918.1																																																																																				0.438	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920	
CDK17	5128	broad.mit.edu	37	12	96688840	96688840	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr12:96688840G>C	ENST00000261211.3	-	10	1537	c.934C>G	c.(934-936)Cga>Gga	p.R312G	CDK17_ENST00000543119.2_Missense_Mutation_p.R312G|CDK17_ENST00000542666.1_Missense_Mutation_p.R259G|CDK17_ENST00000553042.1_5'UTR	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.R312G(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TTCAAGTCTCGATGCAATACC	0.343																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	12											137.0	129.0	132.0					12																	96688840		2203	4300	6503	95212971	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.934C>G	12.37:g.96688840G>C	ENSP00000261211:p.Arg312Gly		95212971	A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573325	0.65765	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.64991	-0.13;-0.13;-0.13	5.09	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052553	0.85682	D	0.000000	D	0.85071	0.5613	H	0.96633	3.855	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89383	0.3683	10	0.87932	D	0	-7.2266	13.0612	0.59008	0.0:0.0:0.7079:0.2921	.	312;312	A8K1U6;Q00537	.;CDK17_HUMAN	G	312;312;259	ENSP00000261211:R312G;ENSP00000444459:R312G;ENSP00000442926:R259G	ENSP00000261211:R312G	R	-	1	2	CDK17	95212971	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.936000	0.63506	1.267000	0.44247	0.491000	0.48974	CGA		0.343	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	
SACS	26278	broad.mit.edu	37	13	23914961	23914961	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr13:23914961C>G	ENST00000382292.3	-	9	3327	c.3054G>C	c.(3052-3054)gaG>gaC	p.E1018D	SACS_ENST00000402364.1_Missense_Mutation_p.E268D|SACS_ENST00000382298.3_Missense_Mutation_p.E1018D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1018					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)	p.E871D(1)		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)		AAGATAGATTCTCAAGGACCC	0.348																																																1	Substitution - Missense(1)	ovary(1)	13											119.0	123.0	122.0					13																	23914961		2203	4300	6503	22812961	SO:0001583	missense	26278			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.3054G>C	13.37:g.23914961C>G	ENSP00000371729:p.Glu1018Asp		22812961	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380023	0.42207	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86956	-2.04;-2.19;-2.04	6.05	1.86	0.25419	.	0.155386	0.56097	N	0.000022	T	0.74854	0.3771	L	0.29908	0.895	0.26316	N	0.97775	B	0.28233	0.204	B	0.23419	0.046	T	0.62353	-0.6872	10	0.37606	T	0.19	.	4.7565	0.13086	0.0:0.456:0.1594:0.3846	.	1018	Q9NZJ4	SACS_HUMAN	D	1018;268;1018	ENSP00000371729:E1018D;ENSP00000385844:E268D;ENSP00000371735:E1018D	ENSP00000371729:E1018D	E	-	3	2	SACS	22812961	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.616000	0.24344	0.433000	0.26313	0.650000	0.86243	GAG		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
TRPM7	54822	broad.mit.edu	37	15	50884152	50884152	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr15:50884152G>C	ENST00000313478.7	-	26	4561	c.4280C>G	c.(4279-4281)tCt>tGt	p.S1427C	TRPM7_ENST00000560955.1_Missense_Mutation_p.S1427C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1427					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S1427C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TGTAGCTTTAGAGCAAACAGT	0.358																																																1	Substitution - Missense(1)	ovary(1)	15											100.0	96.0	97.0					15																	50884152		1832	4074	5906	48671444	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4280C>G	15.37:g.50884152G>C	ENSP00000320239:p.Ser1427Cys		48671444	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	8.986	0.976540	0.18736	.	.	ENSG00000092439	ENST00000313478	T	0.54675	0.56	5.91	1.78	0.24846	.	1.407100	0.03950	N	0.288352	T	0.37999	0.1024	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.22138	-1.0225	10	0.44086	T	0.13	0.0435	5.037	0.14440	0.0648:0.2328:0.4489:0.2535	.	1427	Q96QT4	TRPM7_HUMAN	C	1427	ENSP00000320239:S1427C	ENSP00000320239:S1427C	S	-	2	0	TRPM7	48671444	0.999000	0.42202	0.074000	0.20217	0.665000	0.39181	1.490000	0.35573	0.079000	0.16929	0.558000	0.71614	TCT		0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
ALOX15	246	broad.mit.edu	37	17	4542416	4542416	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr17:4542416C>A	ENST00000570836.1	-	4	445	c.349G>T	c.(349-351)Ggc>Tgc	p.G117C	ALOX15_ENST00000293761.3_Missense_Mutation_p.G117C|ALOX15_ENST00000574640.1_Missense_Mutation_p.G78C|ALOX15_ENST00000545513.1_Missense_Mutation_p.G139C			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	117	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G117C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GGGTCCTCGCCCACAGTGCGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	17											136.0	130.0	132.0					17																	4542416		2203	4300	6503	4489165	SO:0001583	missense	246			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.349G>T	17.37:g.4542416C>A	ENSP00000458832:p.Gly117Cys		4489165	A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	7.704	0.693705	0.15039	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.08008	3.14;3.14	4.22	1.05	0.20165	Lipoxygenase, C-terminal (2);	0.926595	0.09054	N	0.855419	T	0.08088	0.0202	L	0.27053	0.805	0.09310	N	1	B;P;P	0.43519	0.222;0.809;0.809	B;P;P	0.48270	0.138;0.469;0.572	T	0.32402	-0.9908	10	0.41790	T	0.15	-21.1961	2.3938	0.04385	0.1895:0.4867:0.2153:0.1085	.	139;78;117	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	C	117;139	ENSP00000293761:G117C;ENSP00000439855:G139C	ENSP00000293761:G117C	G	-	1	0	ALOX15	4489165	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.170000	0.09897	0.518000	0.28383	-1.360000	0.01215	GGC		0.602	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2		
MYH4	4622	broad.mit.edu	37	17	10346815	10346815	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr17:10346815C>A	ENST00000255381.2	-	40	5807	c.5697G>T	c.(5695-5697)aaG>aaT	p.K1899N	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1899					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.K1899N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTGCGGAACTTGGCAAGGT	0.468																																																1	Substitution - Missense(1)	ovary(1)	17											114.0	103.0	107.0					17																	10346815		2203	4300	6503	10287540	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5697G>T	17.37:g.10346815C>A	ENSP00000255381:p.Lys1899Asn		10287540		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810487	0.70797	.	.	ENSG00000141048	ENST00000255381	D	0.84146	-1.81	5.0	-4.61	0.03380	Myosin tail (1);	0.000000	0.39083	U	0.001468	D	0.90410	0.6998	M	0.83012	2.62	0.42219	D	0.991846	P	0.46784	0.884	D	0.63488	0.915	D	0.90051	0.4149	10	0.87932	D	0	.	14.8038	0.69935	0.0:0.4134:0.0:0.5866	.	1899	Q9Y623	MYH4_HUMAN	N	1899	ENSP00000255381:K1899N	ENSP00000255381:K1899N	K	-	3	2	MYH4	10287540	0.244000	0.23889	0.812000	0.32479	0.990000	0.78478	-0.295000	0.08298	-0.695000	0.05105	0.655000	0.94253	AAG		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
RIOK3	8780	broad.mit.edu	37	18	21044582	21044582	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr18:21044582G>C	ENST00000339486.3	+	5	1150	c.533G>C	c.(532-534)aGa>aCa	p.R178T	RIOK3_ENST00000577501.1_Missense_Mutation_p.R178T|RIOK3_ENST00000581585.1_Missense_Mutation_p.R162T	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	178					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R178T(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACACAGCAAGAATGGAAAAT	0.338																																																1	Substitution - Missense(1)	ovary(1)	18											73.0	69.0	70.0					18																	21044582		2203	4300	6503	19298580	SO:0001583	missense	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.533G>C	18.37:g.21044582G>C	ENSP00000341874:p.Arg178Thr		19298580	Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668525	0.88348	.	.	ENSG00000101782	ENST00000339486	T	0.10005	2.92	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	M	0.78049	2.395	0.80722	D	1	P;D;D	0.57899	0.944;0.981;0.968	P;P;B	0.48921	0.476;0.595;0.391	T	0.00621	-1.1640	10	0.72032	D	0.01	-9.2426	20.4745	0.99168	0.0:0.0:1.0:0.0	.	162;178;178	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	T	178	ENSP00000341874:R178T	ENSP00000341874:R178T	R	+	2	0	RIOK3	19298580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.449000	0.97603	2.941000	0.99782	0.655000	0.94253	AGA		0.338	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831	
CDH20	28316	broad.mit.edu	37	18	59157965	59157965	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr18:59157965G>C	ENST00000262717.4	+	2	577	c.179G>C	c.(178-180)aGc>aCc	p.S60T	CDH20_ENST00000538374.1_Missense_Mutation_p.S60T|CDH20_ENST00000536675.2_Missense_Mutation_p.S60T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	60					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S60T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCAAGAGGAGCTGGGTTTGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	18											121.0	120.0	121.0					18																	59157965		2203	4300	6503	57308945	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.179G>C	18.37:g.59157965G>C	ENSP00000262717:p.Ser60Thr		57308945	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240444	0.79912	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.00325	8.1;8.1;8.1	5.27	5.27	0.74061	Cadherin-like (1);	0.043338	0.85682	D	0.000000	T	0.00328	0.0010	N	0.24115	0.695	0.53005	D	0.999964	D	0.54772	0.968	P	0.55260	0.772	D	0.94673	0.7858	10	0.87932	D	0	.	19.2658	0.93984	0.0:0.0:1.0:0.0	.	60	Q9HBT6	CAD20_HUMAN	T	60	ENSP00000444767:S60T;ENSP00000442226:S60T;ENSP00000262717:S60T	ENSP00000262717:S60T	S	+	2	0	CDH20	57308945	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.140000	0.94607	2.620000	0.88729	0.563000	0.77884	AGC		0.512	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
POMC	5443	broad.mit.edu	37	2	25387508	25387508	+	Splice_Site	SNP	A	A	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr2:25387508A>C	ENST00000405623.1	-	2	588		c.e2+1		POMC_ENST00000380794.1_Splice_Site|POMC_ENST00000264708.3_Splice_Site|POMC_ENST00000395826.2_Splice_Site			P01189	COLI_HUMAN	proopiomelanocortin						cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)	p.?(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TGGCCCACGTACCAGCAGGTT	0.557																																					Colon(110;1515 1566 8452 10082 43216)											1	Unknown(1)	ovary(1)	2											103.0	101.0	102.0					2																	25387508		2203	4300	6503	25241012	SO:0001630	splice_region_variant	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.132+1T>G	2.37:g.25387508A>C			25241012	P78442|Q53T23|Q9UD39|Q9UD40	Splice_Site	SNP	ENST00000405623.1	37	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785665	0.70337	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4351	0.67274	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POMC	25241012	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.216000	0.72212	2.146000	0.66826	0.379000	0.24179	.		0.557	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256	Intron
PLB1	151056	broad.mit.edu	37	2	28814614	28814614	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr2:28814614G>C	ENST00000327757.5	+	31	2219	c.2175G>C	c.(2173-2175)ttG>ttC	p.L725F	PLB1_ENST00000329020.6_Missense_Mutation_p.L413F|PLB1_ENST00000422425.2_Missense_Mutation_p.L714F	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	725	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.L725F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTTCTGCCTTGCACCCTACCT	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											93.0	87.0	89.0					2																	28814614		2203	4300	6503	28668118	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2175G>C	2.37:g.28814614G>C	ENSP00000330442:p.Leu725Phe		28668118	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.933|8.933	0.963923|0.963923	0.18583|0.18583	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	.|T;T;T;T	.|0.11930	.|2.74;2.75;2.73;2.74	5.83|5.83	-11.7|-11.7	0.00046|0.00046	.|.	.|0.708385	.|0.12776	.|N	.|0.440066	T|T	0.04907|0.04907	0.0132|0.0132	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.34372	.|0.305;0.451;0.278;0.443	.|B;B;B;B	.|0.40066	.|0.318;0.306;0.212;0.11	T|T	0.44636|0.44636	-0.9315|-0.9315	5|10	.|0.56958	.|D	.|0.05	-1.1054|-1.1054	2.7954|2.7954	0.05400|0.05400	0.4546:0.1859:0.0732:0.2864|0.4546:0.1859:0.0732:0.2864	.|.	.|714;725;413;725	.|Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6	.|.;.;.;PLB1_HUMAN	S|F	713|725;714;435;413	.|ENSP00000330442:L725F;ENSP00000416440:L714F;ENSP00000392493:L435F;ENSP00000330729:L413F	.|ENSP00000330442:L725F	C|L	+|+	2|3	0|2	PLB1|PLB1	28668118|28668118	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.120000|0.120000	0.20174|0.20174	-4.339000|-4.339000	0.00250|0.00250	-4.130000|-4.130000	0.00071|0.00071	-1.193000|-1.193000	0.01689|0.01689	TGC|TTG		0.572	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		
SPR	6697	broad.mit.edu	37	2	73118520	73118520	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr2:73118520G>A	ENST00000234454.5	+	3	713	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	214					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)	p.V214M(1)		lung(4)|ovary(2)	6						GGAGACCTCCGTGGACCCAGA	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											70.0	66.0	67.0					2																	73118520		2203	4300	6503	72972028	SO:0001583	missense	6697				CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	11257	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 38C, member 1"""	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.640G>A	2.37:g.73118520G>A	ENSP00000234454:p.Val214Met		72972028	A8K741|D6W5H2|Q53GI9|Q9UBB1	Missense_Mutation	SNP	ENST00000234454.5	37	CCDS1920.1	.	.	.	.	.	.	.	.	.	.	G	4.834	0.155107	0.09236	.	.	ENSG00000116096	ENST00000234454	D	0.91521	-2.86	4.72	-1.54	0.08584	NAD(P)-binding domain (1);	0.714340	0.13431	N	0.388400	T	0.75635	0.3876	N	0.04090	-0.28	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.63427	-0.6640	10	0.37606	T	0.19	-27.5021	8.4194	0.32692	0.5359:0.0:0.4641:0.0	.	214	P35270	SPRE_HUMAN	M	214	ENSP00000234454:V214M	ENSP00000234454:V214M	V	+	1	0	SPR	72972028	0.000000	0.05858	0.087000	0.20705	0.520000	0.34377	0.614000	0.24314	-0.160000	0.11002	-1.300000	0.01332	GTG		0.557	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2		
SCN3A	6328	broad.mit.edu	37	2	165952156	165952156	+	Silent	SNP	A	A	G			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr2:165952156A>G	ENST00000360093.3	-	25	4787	c.4296T>C	c.(4294-4296)gtT>gtC	p.V1432V	SCN3A_ENST00000283254.7_Silent_p.V1432V|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Silent_p.V1383V|SCN3A_ENST00000540861.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1432					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1432V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGAAGTTTAACCTAAATGA	0.269																																																1	Substitution - coding silent(1)	ovary(1)	2											38.0	37.0	37.0					2																	165952156		2198	4293	6491	165660402	SO:0001819	synonymous_variant	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4296T>C	2.37:g.165952156A>G			165660402	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					0.269	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
MAP2	4133	broad.mit.edu	37	2	210518128	210518128	+	Silent	SNP	G	G	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr2:210518128G>A	ENST00000360351.4	+	4	740	c.234G>A	c.(232-234)gaG>gaA	p.E78E	MAP2_ENST00000392194.1_Silent_p.E78E|MAP2_ENST00000447185.1_Silent_p.E78E|MAP2_ENST00000199940.6_Silent_p.E78E|MAP2_ENST00000361559.4_Silent_p.E78E	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	78					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.E78E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCAACGGAGAGCTGACCTCAG	0.473																																					Pancreas(27;423 979 28787 29963)											1	Substitution - coding silent(1)	ovary(1)	2											100.0	102.0	101.0					2																	210518128		2203	4300	6503	210226373	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.234G>A	2.37:g.210518128G>A			210226373	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
CFAP61	26074	broad.mit.edu	37	20	20243721	20243721	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr20:20243721A>T	ENST00000245957.5	+	21	2526	c.2450A>T	c.(2449-2451)gAg>gTg	p.E817V	C20orf26_ENST00000389656.3_Missense_Mutation_p.E173V|C20orf26_ENST00000377309.2_Missense_Mutation_p.E173V|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.E173V	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		817								p.E817V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACGAGGAAGAGGATTGCTTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	20											131.0	125.0	127.0					20																	20243721		2203	4300	6503	20191721	SO:0001583	missense	26074																														ENST00000245957.5:c.2450A>T	20.37:g.20243721A>T	ENSP00000245957:p.Glu817Val		20191721	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	8.710	0.911709	0.17833	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.1	5.1	0.69264	.	0.444680	0.25400	N	0.030952	T	0.33818	0.0876	L	0.36672	1.1	0.37293	D	0.908343	P;P;D	0.57571	0.692;0.682;0.98	B;B;P	0.52424	0.281;0.222;0.698	T	0.12426	-1.0548	10	0.13470	T	0.59	.	15.0607	0.71951	1.0:0.0:0.0:0.0	.	797;173;817	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	V	757;173;173;797;817;173	ENSP00000366524:E173V;ENSP00000374307:E173V;ENSP00000245957:E817V;ENSP00000366508:E173V	ENSP00000245957:E817V	E	+	2	0	C20orf26	20191721	1.000000	0.71417	0.977000	0.42913	0.048000	0.14542	5.189000	0.65098	2.136000	0.66102	0.533000	0.62120	GAG		0.453	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
PHACTR3	116154	broad.mit.edu	37	20	58318189	58318189	+	Missense_Mutation	SNP	G	G	A	rs143288140		TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr20:58318189G>A	ENST00000371015.1	+	2	613	c.146G>A	c.(145-147)cGt>cAt	p.R49H	PHACTR3_ENST00000355648.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R46H|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R8H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R8H	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	49						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R49H(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCCGGCGCGTCCTGAATAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18499	0.001		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	ovary(1)|lung(1)|large_intestine(1)	20						G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	86.0	95.0	91.0		137,23,146,23,23	4.4	0.1	20	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	46/557,8/519,49/560,8/519,8/449	58318189	2,13004	2203	4300	6503	57751584	SO:0001583	missense	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.146G>A	20.37:g.58318189G>A	ENSP00000360054:p.Arg49His		57751584	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.84	2.357583	0.41801	0.0	2.33E-4	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.45668	1.58;1.68;0.89;1.27;1.27;1.27;0.89	4.4	4.4	0.53042	.	0.105543	0.64402	D	0.000003	T	0.31857	0.0810	L	0.43152	1.355	0.54753	D	0.999982	B;P;P	0.46395	0.026;0.53;0.877	B;B;B	0.32022	0.016;0.085;0.139	T	0.32348	-0.9910	10	0.48119	T	0.1	-14.0518	15.9499	0.79827	0.0:0.0:1.0:0.0	.	8;49;46	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	H	46;49;8;8;8;8;8	ENSP00000353002:R46H;ENSP00000360054:R49H;ENSP00000379001:R8H;ENSP00000442483:R8H;ENSP00000347866:R8H;ENSP00000378998:R8H;ENSP00000354555:R8H	ENSP00000347866:R8H	R	+	2	0	PHACTR3	57751584	1.000000	0.71417	0.077000	0.20336	0.558000	0.35554	4.878000	0.63093	1.988000	0.58038	0.455000	0.32223	CGT		0.567	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
CD80	941	broad.mit.edu	37	3	119256010	119256010	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr3:119256010A>T	ENST00000264246.3	-	4	1036	c.674T>A	c.(673-675)gTg>gAg	p.V225E	CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Missense_Mutation_p.V225E|CD80_ENST00000383669.3_Missense_Mutation_p.V225E	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	225	Ig-like C2-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.V225E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	GGTCTGATTCACTCTTAAATG	0.373																																					Melanoma(132;135 1764 1806 5833 14593)											1	Substitution - Missense(1)	ovary(1)	3											203.0	192.0	196.0					3																	119256010		2203	4300	6503	120738700	SO:0001583	missense	941				CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.674T>A	3.37:g.119256010A>T	ENSP00000264246:p.Val225Glu		120738700	Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576358	0.65878	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669	T;T;T	0.74737	-0.87;-0.87;-0.87	5.19	5.19	0.71726	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000295	D	0.84924	0.5580	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84701	0.0728	10	0.38643	T	0.18	-18.903	11.3641	0.49662	1.0:0.0:0.0:0.0	.	225;225	Q5DTB0;P33681	.;CD80_HUMAN	E	225	ENSP00000264246:V225E;ENSP00000418364:V225E;ENSP00000373165:V225E	ENSP00000264246:V225E	V	-	2	0	CD80	120738700	0.888000	0.30383	0.788000	0.31933	0.047000	0.14425	3.987000	0.56944	2.175000	0.68902	0.528000	0.53228	GTG		0.373	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191	
MBD4	8930	broad.mit.edu	37	3	129155468	129155468	+	Missense_Mutation	SNP	T	T	C	rs372593697		TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr3:129155468T>C	ENST00000249910.1	-	3	1194	c.1019A>G	c.(1018-1020)aAa>aGa	p.K340R	MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.K340R|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.K340R|MBD4_ENST00000429544.2_Missense_Mutation_p.K340R	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	340					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.K340R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTGAGTCTTTGGCTGAACA	0.328								Base excision repair (BER), DNA glycosylases																																								1	Substitution - Missense(1)	ovary(1)	3						T	ARG/LYS	2,4404	4.2+/-10.8	0,2,2201	102.0	109.0	107.0		1019	-3.0	0.0	3		107	0,8600		0,0,4300	no	missense	MBD4	NM_003925.1	26	0,2,6501	CC,CT,TT		0.0,0.0454,0.0154	benign	340/581	129155468	2,13004	2203	4300	6503	130638158	SO:0001583	missense	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1019A>G	3.37:g.129155468T>C	ENSP00000249910:p.Lys340Arg		130638158	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331968	0.24167	4.54E-4	0.0	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.93133	-2.97;-2.97;-3.17;-3.17	5.65	-2.99	0.05497	.	1.130980	0.06294	N	0.699639	D	0.84647	0.5518	N	0.24115	0.695	0.22858	N	0.998647	B;B;B;B	0.09022	0.002;0.001;0.0;0.002	B;B;B;B	0.09377	0.001;0.004;0.001;0.002	T	0.69840	-0.5036	10	0.16420	T	0.52	-0.0792	5.4198	0.16394	0.0:0.3042:0.2532:0.4426	.	340;340;340;340	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	R	340	ENSP00000394080:K340R;ENSP00000249910:K340R;ENSP00000424873:K340R;ENSP00000422327:K340R	ENSP00000249910:K340R	K	-	2	0	MBD4	130638158	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.192000	0.09587	-0.864000	0.04078	-0.450000	0.05554	AAA		0.328	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925	
TNIK	23043	broad.mit.edu	37	3	170811744	170811744	+	Missense_Mutation	SNP	G	G	T			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr3:170811744G>T	ENST00000436636.2	-	23	2949	c.2605C>A	c.(2605-2607)Cca>Aca	p.P869T	TNIK_ENST00000284483.8_Missense_Mutation_p.P861T|TNIK_ENST00000369326.5_Missense_Mutation_p.P847T|TNIK_ENST00000475336.1_Missense_Mutation_p.P777T|TNIK_ENST00000470834.1_Missense_Mutation_p.P832T|TNIK_ENST00000357327.5_Missense_Mutation_p.P840T|TNIK_ENST00000538048.1_Missense_Mutation_p.P821T|TNIK_ENST00000341852.6_Missense_Mutation_p.P785T|TNIK_ENST00000460047.1_Missense_Mutation_p.P806T|TNIK_ENST00000488470.1_Missense_Mutation_p.P814T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	869	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P869T(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTGCTGCCTGGAGCTCCTGTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											94.0	95.0	95.0					3																	170811744		2081	4232	6313	172294438	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2605C>A	3.37:g.170811744G>T	ENSP00000399511:p.Pro869Thr		172294438	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	7.697	0.692217	0.15039	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.39	5.39	0.77823	.	0.615270	0.16610	N	0.206957	T	0.61714	0.2369	L	0.29908	0.895	0.32042	N	0.598097	B;B;B;B;B;B;B;B	0.15473	0.013;0.001;0.013;0.013;0.01;0.001;0.013;0.006	B;B;B;B;B;B;B;B	0.22386	0.01;0.009;0.01;0.01;0.039;0.009;0.01;0.017	T	0.60662	-0.7219	10	0.22109	T	0.4	.	9.7814	0.40651	0.1529:0.0:0.8471:0.0	.	777;832;806;785;861;840;814;869	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	T	869;847;821;785;861;777;840;806;814;832	ENSP00000399511:P869T;ENSP00000358332:P847T;ENSP00000443278:P821T;ENSP00000345352:P785T;ENSP00000284483:P861T;ENSP00000418156:P777T;ENSP00000349880:P840T;ENSP00000418916:P806T;ENSP00000418378:P814T;ENSP00000419990:P832T	ENSP00000284483:P861T	P	-	1	0	TNIK	172294438	1.000000	0.71417	0.965000	0.40720	0.879000	0.50718	4.128000	0.57951	2.500000	0.84329	0.655000	0.94253	CCA		0.453	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
PPP1R3A	5506	broad.mit.edu	37	7	113519908	113519908	+	Silent	SNP	T	T	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr7:113519908T>A	ENST00000284601.3	-	4	1307	c.1239A>T	c.(1237-1239)ggA>ggT	p.G413G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	413					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.G413G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTGATTTCTCCCATATTTG	0.403																																																1	Substitution - coding silent(1)	ovary(1)	7											157.0	147.0	150.0					7																	113519908		2203	4300	6503	113307144	SO:0001819	synonymous_variant	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1239A>T	7.37:g.113519908T>A			113307144	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	CCDS5759.1																																																																																				0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
SQLE	6713	broad.mit.edu	37	8	126011654	126011654	+	Silent	SNP	T	T	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chr8:126011654T>A	ENST00000265896.5	+	1	907	c.9T>A	c.(7-9)acT>acA	p.T3T	SQLE_ENST00000523430.1_Intron|RP11-6D1.3_ENST00000523030.1_RNA	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	3					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)	p.T3T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CCATGTGGACTTTTCTGGGCA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	8											56.0	57.0	57.0					8																	126011654		1932	4136	6068	126080835	SO:0001819	synonymous_variant	6713			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.9T>A	8.37:g.126011654T>A			126080835	Q9UEK6	Silent	SNP	ENST00000265896.5	37	CCDS47918.1																																																																																				0.498	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129	
DCAF12L2	340578	broad.mit.edu	37	X	125298656	125298656	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1510-01A-02D-0472-08	TCGA-13-1510-10A-01W-0546-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	b20a9097-2373-4599-b715-f18d3398e2f9	b106a973-b032-415b-b2d0-33f3fd8d811f	g.chrX:125298656C>A	ENST00000360028.2	-	1	1278	c.1252G>T	c.(1252-1254)Gtg>Ttg	p.V418L	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.V418L			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	418								p.V418L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AAGTAGTTCACCCAGACGTCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	X											109.0	111.0	110.0					X																	125298656		2203	4300	6503	125126337	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1252G>T	X.37:g.125298656C>A	ENSP00000353128:p.Val418Leu		125126337	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	3.861	-0.029891	0.07543	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.17213	2.29;2.29	4.14	2.36	0.29203	.	0.262289	0.20197	N	0.097188	T	0.10895	0.0266	L	0.44542	1.39	0.29425	N	0.860247	B	0.15719	0.014	B	0.14023	0.01	T	0.30387	-0.9980	10	0.11485	T	0.65	.	3.8079	0.08785	0.0:0.5753:0.1996:0.225	.	418	Q5VW00	DC122_HUMAN	L	418	ENSP00000441489:V418L;ENSP00000353128:V418L	ENSP00000353128:V418L	V	-	1	0	DCAF12L2	125126337	1.000000	0.71417	0.961000	0.40146	0.820000	0.46376	2.620000	0.46410	0.508000	0.28173	-0.990000	0.02549	GTG		0.622	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
