#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
NUDC	10726	broad.mit.edu	37	1	27268302	27268302	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr1:27268302G>A	ENST00000321265.5	+	4	545	c.422G>A	c.(421-423)gGg>gAg	p.G141E		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	141					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)		p.G141E(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GACTCCCCAGGGAAGCAGGTG	0.542																																																1	Substitution - Missense(1)	ovary(1)	1											58.0	52.0	54.0					1																	27268302		2203	4300	6503	27140889	SO:0001583	missense	10726				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.422G>A	1.37:g.27268302G>A	ENSP00000319664:p.Gly141Glu		27140889	Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	37	CCDS292.1	.	.	.	.	.	.	.	.	.	.	G	4.646	0.120125	0.08881	.	.	ENSG00000090273	ENST00000435827;ENST00000321265;ENST00000452707	T	0.81247	-1.47	4.37	1.14	0.20703	.	0.424311	0.28031	N	0.016880	T	0.52533	0.1740	N	0.12182	0.205	0.33974	D	0.647201	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.48703	-0.9012	10	0.02654	T	1	0.0016	3.0249	0.06087	0.0988:0.3281:0.4049:0.1682	.	92;141	Q9H2R7;Q9Y266	.;NUDC_HUMAN	E	145;141;92	ENSP00000319664:G141E	ENSP00000319664:G141E	G	+	2	0	NUDC	27140889	0.952000	0.32445	0.998000	0.56505	0.972000	0.66771	-0.017000	0.12590	0.571000	0.29365	0.655000	0.94253	GGG		0.542	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2		
COL16A1	1307	broad.mit.edu	37	1	32157226	32157226	+	Silent	SNP	G	G	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr1:32157226G>T	ENST00000373672.3	-	18	1791	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	COL16A1_ENST00000373668.3_Silent_p.I425I|COL16A1_ENST00000271069.6_Silent_p.I425I	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	425	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.I425I(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAATGACACAGATCTCTCCTG	0.627																																					Colon(143;498 1786 21362 25193 36625)											1	Substitution - coding silent(1)	ovary(1)	1											143.0	154.0	151.0					1																	32157226		1967	4142	6109	31929813	SO:0001819	synonymous_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1275C>A	1.37:g.32157226G>T			31929813	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	CCDS41297.1																																																																																				0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
ST3GAL3	6487	broad.mit.edu	37	1	44395826	44395826	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr1:44395826G>A	ENST00000361392.4	+	12	1238	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	ST3GAL3_ENST00000531451.1_Silent_p.A124A|ST3GAL3_ENST00000330208.2_Silent_p.A140A|ST3GAL3_ENST00000372366.1_3'UTR|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R324Q|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R408Q|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R323Q|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.E93K|ST3GAL3_ENST00000361812.4_Silent_p.A155A|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.E193K|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R392Q|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R423Q|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R338Q|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R256Q|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R256Q|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R240Q|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.E178K|ST3GAL3_ENST00000372365.1_3'UTR|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R392Q|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R423Q|ST3GAL3_ENST00000545417.1_Silent_p.A155A|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R323Q|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R408Q|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R369Q|ST3GAL3_ENST00000372362.2_Silent_p.A140A	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	354					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.R423Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				AATATCCAGCGAGAGAAAGAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											200.0	184.0	190.0					1																	44395826		2203	4300	6503	44168413	SO:0001583	missense	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.1061G>A	1.37:g.44395826G>A	ENSP00000355341:p.Arg354Gln		44168413	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	CCDS492.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.42|16.42	3.118971|3.118971	0.56505|0.56505	.|.	.|.	ENSG00000126091|ENSG00000126091	ENST00000372367;ENST00000528371;ENST00000531816|ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372368;ENST00000372372;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77620|0.60171	-0.16;0.43;-1.11|1.61;1.61;1.61;1.61;1.61;1.61;1.51;1.61;1.61;1.61;1.61;1.61;0.21;1.51;1.61	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	.|0.243620	.|0.33591	.|N	.|0.004758	T|T	0.61800|0.61800	0.2376|0.2376	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|D;D;P;P;D;P;P;D;P;D;P;D	0.22604|0.69078	0.021;0.021;0.072|0.995;0.997;0.792;0.792;0.99;0.876;0.873;0.995;0.939;0.985;0.873;0.996	B;B;B|P;P;B;B;P;B;P;P;P;P;P;P	0.16722|0.56563	0.011;0.011;0.016|0.7;0.612;0.063;0.063;0.533;0.091;0.473;0.612;0.556;0.663;0.556;0.801	T|T	0.57242|0.57242	-0.7845|-0.7845	8|9	0.51188|0.27082	T|T	0.08|0.32	.|.	10.1612|10.1612	0.42853|0.42853	0.0939:0.0:0.9061:0.0|0.0939:0.0:0.9061:0.0	.|.	93;178;193|369;324;209;240;323;256;392;338;408;354;423;369	Q11203-22;Q11203-17;Q11203-24|Q11203-2;Q11203-5;Q11203-21;Q11203-16;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.|.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	K|Q	193;178;93|354;338;423;408;392;323;256;369;324;423;408;392;240;256;323	ENSP00000361442:E193K;ENSP00000434876:E178K;ENSP00000434378:E93K|ENSP00000355341:R354Q;ENSP00000354748:R338Q;ENSP00000262915:R423Q;ENSP00000361450:R408Q;ENSP00000316999:R392Q;ENSP00000361449:R323Q;ENSP00000330463:R256Q;ENSP00000317192:R369Q;ENSP00000361444:R324Q;ENSP00000354657:R423Q;ENSP00000361443:R408Q;ENSP00000361447:R392Q;ENSP00000432682:R240Q;ENSP00000432965:R256Q;ENSP00000329755:R323Q	ENSP00000361442:E193K|ENSP00000262915:R423Q	E|R	+|+	1|2	0|0	ST3GAL3|ST3GAL3	44168413|44168413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.274000|3.274000	0.51631|0.51631	2.507000|2.507000	0.84556|0.84556	0.591000|0.591000	0.81541|0.81541	GAG|CGA		0.547	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963	
CDC7	8317	broad.mit.edu	37	1	91973480	91973480	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr1:91973480A>G	ENST00000428239.1	+	3	444	c.185A>G	c.(184-186)gAc>gGc	p.D62G	CDC7_ENST00000234626.6_Missense_Mutation_p.D62G|CDC7_ENST00000430031.2_Intron|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D62G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AAGATTGAGGACAAAATTGGA	0.299																																																1	Substitution - Missense(1)	ovary(1)	1											102.0	115.0	111.0					1																	91973480		2203	4290	6493	91746068	SO:0001583	missense	8317			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.185A>G	1.37:g.91973480A>G	ENSP00000393139:p.Asp62Gly		91746068	D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	CCDS734.1	.	.	.	.	.	.	.	.	.	.	A	9.124	1.009814	0.19277	.	.	ENSG00000097046	ENST00000234626;ENST00000428239;ENST00000426137	T;T;T	0.06294	3.32;3.32;3.32	5.87	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.179295	0.64402	N	0.000013	T	0.02342	0.0072	L	0.41415	1.275	0.48975	D	0.999736	B	0.12630	0.006	B	0.19148	0.024	T	0.33007	-0.9885	10	0.42905	T	0.14	-15.3449	8.1727	0.31264	0.7885:0.0:0.2115:0.0	.	62	O00311	CDC7_HUMAN	G	62	ENSP00000234626:D62G;ENSP00000393139:D62G;ENSP00000398077:D62G	ENSP00000234626:D62G	D	+	2	0	CDC7	91746068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.127000	0.57944	1.165000	0.42670	0.533000	0.62120	GAC		0.299	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503	
ARHGAP21	57584	broad.mit.edu	37	10	24909163	24909163	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr10:24909163C>G	ENST00000396432.2	-	9	2147	c.1661G>C	c.(1660-1662)cGa>cCa	p.R554P	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R341P	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	553					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.R553P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATTGGAACCTCGAAAAGATTT	0.403																																																1	Substitution - Missense(1)	ovary(1)	10											78.0	80.0	79.0					10																	24909163		2203	4300	6503	24949169	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1661G>C	10.37:g.24909163C>G	ENSP00000379709:p.Arg554Pro		24949169	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359370	0.61403	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.55234	2.5;2.6;0.53;0.55	5.5	4.55	0.56014	.	0.139058	0.47852	D	0.000212	T	0.69214	0.3086	M	0.68317	2.08	0.41373	D	0.987507	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.916	T	0.72043	-0.4409	10	0.54805	T	0.06	.	13.644	0.62270	0.0:0.9211:0.0:0.0789	.	544;553	F8W9U9;Q5T5U3	.;RHG21_HUMAN	P	554;543;341;544;554;389	ENSP00000379709:R554P;ENSP00000365604:R341P;ENSP00000365592:R544P;ENSP00000405018:R554P	ENSP00000365604:R341P	R	-	2	0	ARHGAP21	24949169	1.000000	0.71417	0.932000	0.37286	0.950000	0.60333	4.127000	0.57944	1.355000	0.45865	-0.355000	0.07637	CGA		0.403	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
DNMBP	23268	broad.mit.edu	37	10	101659761	101659761	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr10:101659761G>T	ENST00000324109.4	-	7	2708	c.2617C>A	c.(2617-2619)Cat>Aat	p.H873N	DNMBP_ENST00000543621.1_Missense_Mutation_p.H119N|DNMBP_ENST00000540316.1_5'Flank|DNMBP_ENST00000342239.3_Missense_Mutation_p.H873N	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	873	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H873N(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCCTCATCATGATTCTGGCAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	10											177.0	157.0	164.0					10																	101659761		2203	4300	6503	101649751	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2617C>A	10.37:g.101659761G>T	ENSP00000315659:p.His873Asn		101649751	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821271	0.90873	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.46063	0.88;2.18;2.18;1.45	5.48	5.48	0.80851	Dbl homology (DH) domain (5);	0.000000	0.50627	D	0.000109	T	0.65852	0.2731	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.63655	-0.6588	10	0.44086	T	0.13	-23.0668	19.7014	0.96054	0.0:0.0:1.0:0.0	.	873;119;873	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	N	873;873;119;119;161;161	ENSP00000344914:H873N;ENSP00000315659:H873N;ENSP00000443657:H119N;ENSP00000409476:H161N	ENSP00000315659:H873N	H	-	1	0	DNMBP	101649751	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.727000	0.98787	2.733000	0.93635	0.561000	0.74099	CAT		0.438	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
CFAP43	80217	broad.mit.edu	37	10	105920866	105920866	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr10:105920866C>T	ENST00000357060.3	-	27	3584	c.3469G>A	c.(3469-3471)Gaa>Aaa	p.E1157K	WDR96_ENST00000428666.1_Missense_Mutation_p.E1158K	NM_025145.5	NP_079421.5												p.E1157K(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGTTTTCTTTCTTCTTCAGTC	0.323																																																1	Substitution - Missense(1)	ovary(1)	10											108.0	99.0	103.0					10																	105920866		2203	4299	6502	105910856	SO:0001583	missense	80217																														ENST00000357060.3:c.3469G>A	10.37:g.105920866C>T	ENSP00000349568:p.Glu1157Lys		105910856		Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007324	0.93287	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.19250	2.16;2.18	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	M	0.86028	2.79	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.77557	0.972;0.99	T	0.58736	-0.7584	10	0.72032	D	0.01	.	19.4031	0.94639	0.0:1.0:0.0:0.0	.	1158;1157	G5E9L1;Q8NDM7	.;WDR96_HUMAN	K	1157;1158	ENSP00000349568:E1157K;ENSP00000400289:E1158K	ENSP00000349568:E1157K	E	-	1	0	WDR96	105910856	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.100000	0.71473	2.671000	0.90904	0.655000	0.94253	GAA		0.323	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
KIF18A	81930	broad.mit.edu	37	11	28045385	28045385	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:28045385G>C	ENST00000263181.6	-	16	2807	c.2517C>G	c.(2515-2517)aaC>aaG	p.N839K		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	839					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.N839K(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTAACGAACTGTTTGATGTAG	0.323																																																1	Substitution - Missense(1)	ovary(1)	11											100.0	92.0	95.0					11																	28045385		2201	4299	6500	28001961	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2517C>G	11.37:g.28045385G>C	ENSP00000263181:p.Asn839Lys		28001961	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	3.922	-0.017864	0.07681	.	.	ENSG00000121621	ENST00000263181	T	0.73575	-0.76	5.56	1.97	0.26223	.	0.659654	0.16138	N	0.227865	T	0.60996	0.2312	L	0.32530	0.975	0.09310	N	1	B	0.24186	0.099	B	0.25405	0.06	T	0.53899	-0.8373	10	0.54805	T	0.06	.	7.3032	0.26432	0.719:0.0:0.281:0.0	.	839	Q8NI77	KI18A_HUMAN	K	839	ENSP00000263181:N839K	ENSP00000263181:N839K	N	-	3	2	KIF18A	28001961	0.139000	0.22563	0.126000	0.21872	0.031000	0.12232	0.817000	0.27281	0.485000	0.27652	-0.302000	0.09304	AAC		0.323	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
TTC17	55761	broad.mit.edu	37	11	43429058	43429058	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:43429058G>C	ENST00000039989.4	+	15	2009	c.1995G>C	c.(1993-1995)ttG>ttC	p.L665F	TTC17_ENST00000299240.6_Missense_Mutation_p.L665F|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	665					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L665F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CCAACCTTTTGATTCATTACG	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											108.0	92.0	97.0					11																	43429058		2203	4300	6503	43385634	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1995G>C	11.37:g.43429058G>C	ENSP00000039989:p.Leu665Phe		43385634	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590986	0.66219	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.61274	0.12;0.12	5.63	4.69	0.59074	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	M	0.62209	1.925	0.50039	D	0.999843	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.68941	-0.5276	10	0.54805	T	0.06	-7.8068	5.6698	0.17715	0.1664:0.0:0.6775:0.1562	.	665;665;665	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	F	665	ENSP00000299240:L665F;ENSP00000039989:L665F	ENSP00000039989:L665F	L	+	3	2	TTC17	43385634	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.211000	0.58507	1.296000	0.44742	0.591000	0.81541	TTG		0.423	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	
SSSCA1	10534	broad.mit.edu	37	11	65337979	65337979	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:65337979C>A	ENST00000309328.3	+	1	79	c.17C>A	c.(16-18)gCt>gAt	p.A6D	SSSCA1_ENST00000531405.1_5'UTR|FAM89B_ENST00000316409.2_5'Flank|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000526877.1_Missense_Mutation_p.A6D|FAM89B_ENST00000530349.1_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	6					mitotic nuclear division (GO:0007067)			p.A6D(1)		kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CTGAACGGAGCTGGTGAGGAC	0.662																																																1	Substitution - Missense(1)	ovary(1)	11											58.0	59.0	59.0					11																	65337979		2201	4297	6498	65094555	SO:0001583	missense	10534			AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.17C>A	11.37:g.65337979C>A	ENSP00000312318:p.Ala6Asp		65094555		Missense_Mutation	SNP	ENST00000309328.3	37	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164173	0.38217	.	.	ENSG00000173465	ENST00000309328;ENST00000526877	T;T	0.51574	0.77;0.7	5.54	4.63	0.57726	.	0.135826	0.48767	D	0.000172	T	0.21718	0.0523	N	0.04880	-0.145	0.44570	D	0.997534	P	0.43094	0.799	B	0.36030	0.216	T	0.05338	-1.0891	10	0.15499	T	0.54	-1.5711	10.0133	0.41999	0.0:0.9074:0.0:0.0926	.	6	O60232	SSA27_HUMAN	D	6	ENSP00000312318:A6D;ENSP00000431666:A6D	ENSP00000312318:A6D	A	+	2	0	SSSCA1	65094555	0.449000	0.25689	0.838000	0.33150	0.071000	0.16799	2.184000	0.42575	1.337000	0.45525	0.561000	0.74099	GCT		0.662	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396	
TRPC6	7225	broad.mit.edu	37	11	101374891	101374891	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:101374891G>T	ENST00000344327.3	-	2	1233	c.809C>A	c.(808-810)tCc>tAc	p.S270Y	TRPC6_ENST00000360497.4_Missense_Mutation_p.S270Y|TRPC6_ENST00000532133.1_Missense_Mutation_p.S270Y|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000348423.4_Missense_Mutation_p.S270Y	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	270			S -> T (in FSGS2). {ECO:0000269|PubMed:15924139}.		aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S270Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTAGATCTGGAGTGGCTAAA	0.468																																					Colon(166;1315 1927 11094 12848 34731)											1	Substitution - Missense(1)	ovary(1)	11											149.0	144.0	146.0					11																	101374891		2203	4299	6502	100880101	SO:0001583	missense	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.809C>A	11.37:g.101374891G>T	ENSP00000340913:p.Ser270Tyr		100880101	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497523	0.85069	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.84	5.84	0.93424	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.95121	0.8419	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95307	0.8408	10	0.87932	D	0	-6.1183	20.1438	0.98071	0.0:0.0:1.0:0.0	.	270;270;270	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	Y	270	ENSP00000340913:S270Y;ENSP00000435574:S270Y;ENSP00000343672:S270Y;ENSP00000353687:S270Y	ENSP00000340913:S270Y	S	-	2	0	TRPC6	100880101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.768000	0.95171	0.650000	0.86243	TCC		0.468	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
USP2	9099	broad.mit.edu	37	11	119227995	119227995	+	Silent	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:119227995G>A	ENST00000260187.2	-	12	1926	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y	USP2_ENST00000525735.1_Silent_p.Y335Y|USP2_ENST00000455332.2_Silent_p.Y301Y	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	544	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Y544Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGGACACAGCGTACAGGTTGT	0.602																																																1	Substitution - coding silent(1)	ovary(1)	11											95.0	84.0	88.0					11																	119227995		2199	4295	6494	118733205	SO:0001819	synonymous_variant	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1632C>T	11.37:g.119227995G>A			118733205	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	CCDS8422.1																																																																																				0.602	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997	
ZBTB44	29068	broad.mit.edu	37	11	130130762	130130762	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr11:130130762G>A	ENST00000357899.4	-	2	1279	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F	ZBTB44_ENST00000525842.1_Missense_Mutation_p.S336F|ZBTB44_ENST00000530205.1_Missense_Mutation_p.S336F|ZBTB44_ENST00000397753.1_Missense_Mutation_p.S336F			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S336F(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TATAGAGGAAGACTGTGGACT	0.423																																																1	Substitution - Missense(1)	ovary(1)	11											91.0	86.0	87.0					11																	130130762		1892	4109	6001	129635972	SO:0001583	missense	29068			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1007C>T	11.37:g.130130762G>A	ENSP00000350574:p.Ser336Phe		129635972	Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.730743|3.730743	0.69074|0.69074	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000529982|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	.|T;T;T;T;T	.|0.14144	.|2.53;2.8;2.57;2.8;2.53	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.050705	.|0.85682	.|D	.|0.000000	T|T	0.27967|0.27967	0.0689|0.0689	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;P	.|0.69078	.|0.997;0.997;0.995;0.693	.|D;D;D;P	.|0.80764	.|0.994;0.994;0.979;0.46	T|T	0.02975|0.02975	-1.1087|-1.1087	5|10	.|0.72032	.|D	.|0.01	.|.	19.3282|19.3282	0.94273|0.94273	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|336;336;336;336	.|Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.;.;ZBT44_HUMAN;.	F|F	190|336	.|ENSP00000433457:S336F;ENSP00000380861:S336F;ENSP00000408079:S336F;ENSP00000350574:S336F;ENSP00000434177:S336F	.|ENSP00000350574:S336F	L|S	-|-	1|2	0|0	ZBTB44|ZBTB44	129635972|129635972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.434000|9.434000	0.97515|0.97515	2.566000|2.566000	0.86566|0.86566	0.563000|0.563000	0.77884|0.77884	CTT|TCT		0.423	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155	
PRMT8	56341	broad.mit.edu	37	12	3702270	3702270	+	Silent	SNP	C	C	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr12:3702270C>T	ENST00000382622.3	+	10	1497	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.D360D	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	369	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.D369D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGCAGCGAGACCTCGATTTCA	0.537																																																1	Substitution - coding silent(1)	ovary(1)	12											95.0	78.0	84.0					12																	3702270		2203	4300	6503	3572531	SO:0001819	synonymous_variant	56341			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1107C>T	12.37:g.3702270C>T			3572531	B2RDP0|Q8TBJ8	Silent	SNP	ENST00000382622.3	37	CCDS8521.2																																																																																				0.537	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	
SLC39A5	283375	broad.mit.edu	37	12	56630437	56630437	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr12:56630437G>A	ENST00000266980.4	+	8	1407	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	SLC39A5_ENST00000454355.2_Missense_Mutation_p.G372S|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	372					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.G371S(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGGCACCAAGGCCACAGTCA	0.617																																																1	Substitution - Missense(1)	ovary(1)	12											103.0	93.0	96.0					12																	56630437		2203	4300	6503	54916704	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1114G>A	12.37:g.56630437G>A	ENSP00000266980:p.Gly372Ser		54916704	B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202111	0.58234	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.45668	0.89;0.89	4.96	3.14	0.36123	.	0.366378	0.23819	N	0.044242	T	0.32346	0.0826	L	0.50847	1.595	0.46260	D	0.998959	P	0.41475	0.751	B	0.40375	0.327	T	0.08576	-1.0715	10	0.09084	T	0.74	-11.5812	8.6729	0.34161	0.2483:0.0:0.7517:0.0	.	372	Q6ZMH5	S39A5_HUMAN	S	372	ENSP00000405360:G372S;ENSP00000266980:G372S	ENSP00000266980:G372S	G	+	1	0	SLC39A5	54916704	0.840000	0.29493	1.000000	0.80357	0.977000	0.68977	1.249000	0.32839	0.816000	0.34421	0.655000	0.94253	GGC		0.617	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596	
PIWIL1	9271	broad.mit.edu	37	12	130831585	130831585	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr12:130831585T>A	ENST00000245255.3	+	6	903	c.631T>A	c.(631-633)Ttc>Atc	p.F211I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	211					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.F211I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGTTTGCAGTTCTATAATAT	0.328																																																1	Substitution - Missense(1)	ovary(1)	12											98.0	94.0	96.0					12																	130831585		2203	4300	6503	129397538	SO:0001583	missense	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.631T>A	12.37:g.130831585T>A	ENSP00000245255:p.Phe211Ile		129397538	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.505097	0.64410	.	.	ENSG00000125207	ENST00000245255;ENST00000540672	T;T	0.09445	2.98;2.98	5.53	5.53	0.82687	Argonaute/Dicer protein, PAZ (1);	0.045624	0.85682	D	0.000000	T	0.15132	0.0365	L	0.48362	1.52	0.58432	D	0.999992	P;P	0.47677	0.899;0.57	P;B	0.46110	0.504;0.219	T	0.01639	-1.1306	10	0.36615	T	0.2	-3.964	14.8477	0.70272	0.0:0.0:0.0:1.0	.	211;211	Q96J94;Q96J94-2	PIWL1_HUMAN;.	I	211;72	ENSP00000245255:F211I;ENSP00000441695:F72I	ENSP00000245255:F211I	F	+	1	0	PIWIL1	129397538	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.080000	0.64437	2.090000	0.63153	0.528000	0.53228	TTC		0.328	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
RBM25	58517	broad.mit.edu	37	14	73578334	73578334	+	Missense_Mutation	SNP	G	G	A	rs369541790		TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr14:73578334G>A	ENST00000261973.7	+	16	2401	c.2116G>A	c.(2116-2118)Gta>Ata	p.V706I	RBM25_ENST00000527432.1_Missense_Mutation_p.V706I|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	706					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V706I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CAGTGATGACGTACCCCGAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	14						G	ILE/VAL	0,4406		0,0,2203	116.0	111.0	113.0		2116	5.9	1.0	14		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	RBM25	NM_021239.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	706/844	73578334	1,13005	2203	4300	6503	72648087	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2116G>A	14.37:g.73578334G>A	ENSP00000261973:p.Val706Ile		72648087	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722322	0.48728	0.0	1.16E-4	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.11495	2.77;2.77	5.93	5.93	0.95920	.	0.234732	0.43260	D	0.000596	T	0.08980	0.0222	N	0.22421	0.69	0.80722	D	1	D	0.54601	0.967	B	0.43478	0.421	T	0.37220	-0.9715	10	0.17832	T	0.49	.	14.495	0.67680	0.0697:0.0:0.9303:0.0	.	706	P49756	RBM25_HUMAN	I	706	ENSP00000261973:V706I;ENSP00000431150:V706I	ENSP00000261973:V706I	V	+	1	0	RBM25	72648087	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	5.305000	0.65750	2.814000	0.96858	0.591000	0.81541	GTA		0.393	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
OR4N4	283694	broad.mit.edu	37	15	22382523	22382523	+	Silent	SNP	G	G	C			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr15:22382523G>C	ENST00000328795.4	+	1	142	c.51G>C	c.(49-51)ctG>ctC	p.L17L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L17L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCTTGGTCTGACTCAGTCTC	0.353																																																1	Substitution - coding silent(1)	ovary(1)	15											137.0	134.0	135.0					15																	22382523		2187	4260	6447	19883887	SO:0001819	synonymous_variant	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.51G>C	15.37:g.22382523G>C			19883887	Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	CCDS32173.1																																																																																				0.353	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
MGA	23269	broad.mit.edu	37	15	42041563	42041563	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr15:42041563A>G	ENST00000570161.1	+	16	5758	c.5758A>G	c.(5758-5760)Acc>Gcc	p.T1920A	MGA_ENST00000566586.1_Missense_Mutation_p.T1711A|MGA_ENST00000545763.1_Missense_Mutation_p.T1711A|MGA_ENST00000219905.7_Missense_Mutation_p.T1920A|MGA_ENST00000389936.4_Missense_Mutation_p.T1881A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.T1969A(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCTCTGAAACCAAAATAAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	15											60.0	55.0	57.0					15																	42041563		1874	4103	5977	39828855	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5758A>G	15.37:g.42041563A>G	ENSP00000457035:p.Thr1920Ala		39828855	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194424	0.38806	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.24350	1.86;1.86;1.86	5.72	4.56	0.56223	.	0.385199	0.22241	N	0.062697	T	0.11153	0.0272	N	0.08118	0	0.19945	N	0.999945	B;B;B;B	0.34372	0.451;0.433;0.048;0.048	B;B;B;B	0.33454	0.079;0.164;0.05;0.05	T	0.09058	-1.0692	10	0.38643	T	0.18	.	4.625	0.12474	0.624:0.0:0.0946:0.2814	.	536;1711;1920;1881	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	A	1920;1881;1711	ENSP00000219905:T1920A;ENSP00000374586:T1881A;ENSP00000442467:T1711A	ENSP00000219905:T1920A	T	+	1	0	MGA	39828855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.062000	0.41413	2.184000	0.69523	0.460000	0.39030	ACC		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A	rs397516437		TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr17:7577551C>A	ENST00000269305.4	-	7	919	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	TP53_ENST00000359597.4_Missense_Mutation_p.G244C|TP53_ENST00000445888.2_Missense_Mutation_p.G244C|TP53_ENST00000455263.2_Missense_Mutation_p.G244C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G244C|TP53_ENST00000420246.2_Missense_Mutation_p.G244C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCATGCCGCCCATGCAGGAA	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)	17											147.0	111.0	123.0					17																	7577551		2203	4300	6503	7518276	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.730G>T	17.37:g.7577551C>A	ENSP00000269305:p.Gly244Cys		7518276	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604756	0.87157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244C;ENSP00000352610:G244C;ENSP00000269305:G244C;ENSP00000398846:G244C;ENSP00000391127:G244C;ENSP00000391478:G244C;ENSP00000425104:G112C;ENSP00000423862:G151C	ENSP00000269305:G244C	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
STAT5B	6777	broad.mit.edu	37	17	40359726	40359726	+	Missense_Mutation	SNP	G	G	C	rs150697956	byFrequency	TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr17:40359726G>C	ENST00000293328.3	-	16	2095	c.1927C>G	c.(1927-1929)Ctg>Gtg	p.L643V		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	643	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L643V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AAAGGCATCAGATTCCAAAAC	0.388																																																1	Substitution - Missense(1)	ovary(1)	17											97.0	96.0	96.0					17																	40359726		2203	4300	6503	37613252	SO:0001583	missense	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1927C>G	17.37:g.40359726G>C	ENSP00000293328:p.Leu643Val		37613252	Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215254	0.95104	.	.	ENSG00000173757	ENST00000293328	D	0.96011	-3.88	5.33	5.33	0.75918	SH2 motif (4);	0.135575	0.52532	D	0.000078	D	0.96266	0.8782	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95003	0.8145	10	0.30854	T	0.27	-8.9333	19.2079	0.93742	0.0:0.0:1.0:0.0	.	643	P51692	STA5B_HUMAN	V	643	ENSP00000293328:L643V	ENSP00000293328:L643V	L	-	1	2	STAT5B	37613252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.828000	0.86729	2.768000	0.95171	0.655000	0.94253	CTG		0.388	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	
ATP8B1	5205	broad.mit.edu	37	18	55355593	55355593	+	Missense_Mutation	SNP	G	G	A	rs121909104		TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr18:55355593G>A	ENST00000283684.4	-	12	1366	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.T456M			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	456			T -> M (in PFIC1). {ECO:0000269|PubMed:15239083}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T456M(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGTGTCCCCGTCTTATCAGA	0.453																																																1	Substitution - Missense(1)	ovary(1)	18	GRCh37	CM043817	ATP8B1	M	rs121909104						245.0	216.0	226.0					18																	55355593		2203	4300	6503	53506591	SO:0001583	missense	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1367C>T	18.37:g.55355593G>A	ENSP00000283684:p.Thr456Met		53506591	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801038	0.90538	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.72615	-0.67;-0.67	5.92	5.92	0.95590	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93524	0.6864	10	0.87932	D	0	.	19.9157	0.97061	0.0:0.0:1.0:0.0	.	456	O43520	AT8B1_HUMAN	M	456	ENSP00000283684:T456M;ENSP00000445359:T456M	ENSP00000283684:T456M	T	-	2	0	ATP8B1	53506591	1.000000	0.71417	0.959000	0.39883	0.863000	0.49368	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	ACG		0.453	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	
PPP2R1A	5518	broad.mit.edu	37	19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr19:52715982C>T	ENST00000322088.6	+	5	605	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183W(22)|p.R183G(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617			Mis		clear cell ovarian carcinoma																																		Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	24	Substitution - Missense(24)	ovary(16)|endometrium(4)|large_intestine(3)|pancreas(1)	19											69.0	57.0	61.0					19																	52715982		2203	4300	6503	57407794	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.547C>T	19.37:g.52715982C>T	ENSP00000324804:p.Arg183Trp		57407794	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360081	0.82353	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.34193	0.0889	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	T	0.40459	-0.9562	10	0.87932	D	0	-15.4468	10.2034	0.43099	0.1981:0.8019:0.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	W	173;103;183;128	ENSP00000324804:R183W;ENSP00000415067:R128W	ENSP00000324804:R183W	R	+	1	2	PPP2R1A	57407794	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.933000	0.63484	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225	
IL18R1	8809	broad.mit.edu	37	2	103013236	103013236	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr2:103013236C>G	ENST00000409599.1	+	12	1872	c.1516C>G	c.(1516-1518)Ctt>Gtt	p.L506V	IL18R1_ENST00000233957.1_Missense_Mutation_p.L506V			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	506	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.L506V(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGATAAATCTCTTTCTTATAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											77.0	84.0	82.0					2																	103013236		2203	4300	6503	102379668	SO:0001583	missense	8809			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1516C>G	2.37:g.103013236C>G	ENSP00000387211:p.Leu506Val		102379668	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	C	6.329	0.428715	0.11987	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.07327	3.2;3.2;3.2	5.13	4.24	0.50183	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.334410	0.25912	N	0.027493	T	0.06462	0.0166	N	0.11341	0.13	0.80722	D	1	P;P	0.40970	0.734;0.734	P;P	0.46796	0.527;0.527	T	0.50939	-0.8768	10	0.15066	T	0.55	.	10.3415	0.43882	0.0:0.7893:0.1368:0.0739	.	505;506	B7ZKV7;Q13478	.;IL18R_HUMAN	V	506	ENSP00000386663:L506V;ENSP00000387211:L506V;ENSP00000233957:L506V	ENSP00000233957:L506V	L	+	1	0	IL18R1	102379668	0.997000	0.39634	0.046000	0.18839	0.043000	0.13939	2.787000	0.47798	1.271000	0.44313	0.563000	0.77884	CTT		0.403	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	
GRB14	2888	broad.mit.edu	37	2	165349666	165349666	+	Silent	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr2:165349666G>A	ENST00000263915.3	-	14	2041	c.1503C>T	c.(1501-1503)caC>caT	p.H501H	GRB14_ENST00000543549.1_Silent_p.H414H|GRB14_ENST00000497306.1_5'UTR	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	501	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.H501H(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CATCCAGTGTGTGGAACATTT	0.373																																																1	Substitution - coding silent(1)	ovary(1)	2											99.0	114.0	109.0					2																	165349666		2203	4300	6503	165057912	SO:0001819	synonymous_variant	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1503C>T	2.37:g.165349666G>A			165057912	B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	CCDS2222.1																																																																																				0.373	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		
CCDC141	285025	broad.mit.edu	37	2	179702417	179702417	+	Silent	SNP	G	G	A	rs373773937		TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr2:179702417G>A	ENST00000420890.2	-	23	3646	c.3529C>T	c.(3529-3531)Cta>Tta	p.L1177L	CCDC141_ENST00000295723.5_Silent_p.L602L|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1177								p.L602L(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTTGTGGTAGTCGCTCTTCC	0.493																																																1	Substitution - coding silent(1)	ovary(1)	2											89.0	89.0	89.0					2																	179702417		2203	4300	6503	179410662	SO:0001819	synonymous_variant	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3529C>T	2.37:g.179702417G>A			179410662	H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37																																																																																					0.493	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
VSTM2L	128434	broad.mit.edu	37	20	36572444	36572444	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr20:36572444C>T	ENST00000373461.4	+	4	651	c.404C>T	c.(403-405)aCg>aTg	p.T135M	VSTM2L_ENST00000373459.4_Silent_p.H61H|VSTM2L_ENST00000373458.3_Missense_Mutation_p.T118M	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	135	Ig-like.							p.T135M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GTGAAGCCCACGGACGAAGGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	20											57.0	38.0	45.0					20																	36572444		2203	4300	6503	36005858	SO:0001583	missense	128434			AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"""Immunoglobulin superfamily / V-set domain containing"""	16096	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 102"""	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.404C>T	20.37:g.36572444C>T	ENSP00000362560:p.Thr135Met		36005858	E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083577	0.76642	.	.	ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944	T;T;T	0.28255	1.62;1.62;1.62	5.44	5.44	0.79542	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111045	0.64402	D	0.000006	T	0.41650	0.1168	L	0.50333	1.59	0.37039	D	0.897056	D	0.67145	0.996	P	0.53722	0.733	T	0.46062	-0.9218	10	0.54805	T	0.06	-26.7824	14.745	0.69483	0.1449:0.8551:0.0:0.0	.	135	Q96N03	VTM2L_HUMAN	M	118;135;118	ENSP00000362557:T118M;ENSP00000362560:T135M;ENSP00000406537:T118M	ENSP00000362557:T118M	T	+	2	0	VSTM2L	36005858	0.995000	0.38212	1.000000	0.80357	0.984000	0.73092	3.052000	0.49893	2.550000	0.86006	0.462000	0.41574	ACG		0.647	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1		
KRTAP13-1	140258	broad.mit.edu	37	21	31768590	31768590	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr21:31768590G>T	ENST00000355459.2	+	1	199	c.186G>T	c.(184-186)gaG>gaT	p.E62D		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	62	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.E62D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCTGGGAGCCCACCAGCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	21											58.0	59.0	59.0					21																	31768590		2203	4300	6503	30690461	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.186G>T	21.37:g.31768590G>T	ENSP00000347635:p.Glu62Asp		30690461	Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	14.12	2.442049	0.43326	.	.	ENSG00000198390	ENST00000355459	T	0.08458	3.09	4.51	0.72	0.18214	.	0.341119	0.20447	N	0.092171	T	0.11495	0.0280	M	0.83953	2.67	0.09310	N	1	B	0.22746	0.074	B	0.24701	0.055	T	0.20940	-1.0260	10	0.56958	D	0.05	.	4.3628	0.11210	0.3621:0.1599:0.478:0.0	.	62	Q8IUC0	KR131_HUMAN	D	62	ENSP00000347635:E62D	ENSP00000347635:E62D	E	+	3	2	KRTAP13-1	30690461	0.000000	0.05858	0.108000	0.21378	0.236000	0.25371	-0.813000	0.04491	0.119000	0.18210	0.557000	0.71058	GAG		0.612	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3		
MYH9	4627	broad.mit.edu	37	22	36696211	36696211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr22:36696211G>A	ENST00000216181.5	-	23	3168	c.2938C>T	c.(2938-2940)Cag>Tag	p.Q980*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	980					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.Q980*(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGGATGATCTGCTCCTCCTCC	0.647			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																														Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	1	Substitution - Nonsense(1)	ovary(1)	22											97.0	85.0	89.0					22																	36696211		2203	4300	6503	35026157	SO:0001587	stop_gained	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2938C>T	22.37:g.36696211G>A	ENSP00000216181:p.Gln980*		35026157	A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	43	9.972419	0.99308	.	.	ENSG00000100345	ENST00000216181	.	.	.	5.63	4.59	0.56863	.	0.211098	0.37715	N	0.001964	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.9924	0.47557	0.0:0.2511:0.6243:0.1246	.	.	.	.	X	980	.	ENSP00000216181:Q980X	Q	-	1	0	MYH9	35026157	0.831000	0.29352	1.000000	0.80357	0.955000	0.61496	1.315000	0.33608	1.326000	0.45319	0.655000	0.94253	CAG		0.647	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
GIN1	54826	broad.mit.edu	37	5	102423841	102423841	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr5:102423841C>G	ENST00000399004.2	-	8	1424	c.1330G>C	c.(1330-1332)Gat>Cat	p.D444H	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	444					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.D444H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TAGTCATGATCTGCCACTACT	0.303																																																1	Substitution - Missense(1)	ovary(1)	5											95.0	85.0	88.0					5																	102423841		1853	4101	5954	102451740	SO:0001583	missense	54826			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1330G>C	5.37:g.102423841C>G	ENSP00000381970:p.Asp444His		102451740	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.579117	0.65878	.	.	ENSG00000145723	ENST00000399004	T	0.31247	1.5	5.65	5.65	0.86999	.	14.748200	0.00166	N	0.000001	T	0.54029	0.1833	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.30327	-0.9982	10	0.87932	D	0	-25.7779	18.2582	0.90025	0.0:1.0:0.0:0.0	.	444	Q9NXP7	GIN1_HUMAN	H	444	ENSP00000381970:D444H	ENSP00000381970:D444H	D	-	1	0	GIN1	102451740	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	4.681000	0.61663	2.817000	0.96982	0.563000	0.77884	GAT		0.303	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676	
PCDHB3	56132	broad.mit.edu	37	5	140481609	140481609	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr5:140481609T>C	ENST00000231130.2	+	1	1376	c.1376T>C	c.(1375-1377)tTc>tCc	p.F459S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	459	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F459S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACACCCTGTTCGTCCGCGAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	5											89.0	86.0	87.0					5																	140481609		2203	4296	6499	140461793	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1376T>C	5.37:g.140481609T>C	ENSP00000231130:p.Phe459Ser		140461793	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.654639	0.29425	.	.	ENSG00000113205	ENST00000231130	T	0.03358	3.96	4.26	-8.52	0.00920	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01387	0.0045	N	0.04655	-0.195	0.09310	N	1	B	0.18013	0.025	B	0.18263	0.021	T	0.48163	-0.9059	9	0.59425	D	0.04	.	1.1444	0.01772	0.1609:0.2982:0.2515:0.2894	.	459	Q9Y5E6	PCDB3_HUMAN	S	459	ENSP00000231130:F459S	ENSP00000231130:F459S	F	+	2	0	PCDHB3	140461793	0.000000	0.05858	0.000000	0.03702	0.947000	0.59692	-1.065000	0.03458	-1.758000	0.01315	0.460000	0.39030	TTC		0.602	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
RANBP6	26953	broad.mit.edu	37	9	6013873	6013873	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chr9:6013873C>T	ENST00000259569.5	-	1	1745	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	579					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E579K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATAAATTTTTCCTTCCCAACA	0.393																																																1	Substitution - Missense(1)	ovary(1)	9											159.0	152.0	154.0					9																	6013873		2203	4300	6503	6003873	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1735G>A	9.37:g.6013873C>T	ENSP00000259569:p.Glu579Lys		6003873	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951946	0.53293	.	.	ENSG00000137040	ENST00000259569	T	0.68765	-0.35	3.76	2.86	0.33363	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.79470	0.4451	M	0.85859	2.78	0.80722	D	1	D;D	0.71674	0.998;0.987	D;P	0.64506	0.926;0.78	T	0.80808	-0.1217	10	0.62326	D	0.03	-11.9682	9.4465	0.38701	0.0:0.8934:0.0:0.1066	.	167;579	B4DTX6;O60518	.;RNBP6_HUMAN	K	579	ENSP00000259569:E579K	ENSP00000259569:E579K	E	-	1	0	RANBP6	6003873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.662000	0.61525	1.162000	0.42619	0.650000	0.86243	GAA		0.393	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
FIGF	2277	broad.mit.edu	37	X	15376214	15376214	+	Missense_Mutation	SNP	G	G	A	rs201472376		TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chrX:15376214G>A	ENST00000297904.3	-	3	832	c.403C>T	c.(403-405)Cct>Tct	p.P135S		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	135					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.P135S(1)|p.P135T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTCACACAAGGGGGCTTGAAG	0.488																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	X											263.0	212.0	230.0					X																	15376214		2203	4300	6503	15286135	SO:0001583	missense	2277			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.403C>T	X.37:g.15376214G>A	ENSP00000297904:p.Pro135Ser		15286135	B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468360	0.84533	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.11	5.11	0.69529	Platelet-derived growth factor, conserved site (1);Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59129	-0.7512	9	0.21014	T	0.42	-34.6502	16.7771	0.85553	0.0:0.0:1.0:0.0	.	135	O43915	VEGFD_HUMAN	S	135	.	ENSP00000297904:P135S	P	-	1	0	FIGF	15286135	1.000000	0.71417	0.610000	0.28997	0.990000	0.78478	9.416000	0.97383	2.254000	0.74563	0.529000	0.55759	CCT		0.488	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469	
SLC25A14	9016	broad.mit.edu	37	X	129479159	129479159	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2111-01A-01W-0722-08	TCGA-61-2111-11A-01W-0723-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	9fe4c959-3565-4ef0-9b95-c86bc7981a69	dd1032ae-b384-41ad-b626-4a648b0d0cfe	g.chrX:129479159C>A	ENST00000218197.5	+	2	306	c.79C>A	c.(79-81)Cag>Aag	p.Q27K	SLC25A14_ENST00000361980.5_Missense_Mutation_p.Q24K|SLC25A14_ENST00000339231.3_Missense_Mutation_p.Q24K|SLC25A14_ENST00000543953.1_5'UTR|SLC25A14_ENST00000545805.1_Missense_Mutation_p.Q27K|SLC25A14_ENST00000467496.1_3'UTR	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	27					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.Q27K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TTTTTAGCACCAGAAAAGTAC	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											172.0	139.0	150.0					X																	129479159		2203	4300	6503	129306840	SO:0001583	missense	9016			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.79C>A	X.37:g.129479159C>A	ENSP00000218197:p.Gln27Lys		129306840	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416242	0.42918	.	.	ENSG00000102078	ENST00000424447;ENST00000545805;ENST00000218197;ENST00000361980;ENST00000339231	T;T;T;T;T	0.80994	-1.1;-1.37;-1.35;-1.44;-1.26	4.79	4.79	0.61399	.	.	.	.	.	T	0.78039	0.4221	N	0.08118	0	0.80722	D	1	B;P;P	0.37398	0.114;0.593;0.458	B;P;P	0.57846	0.033;0.828;0.678	T	0.76052	-0.3100	9	0.25106	T	0.35	-6.5974	14.3284	0.66534	0.0:1.0:0.0:0.0	.	24;24;27	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	K	27;27;27;24;24	ENSP00000402578:Q27K;ENSP00000444642:Q27K;ENSP00000218197:Q27K;ENSP00000354455:Q24K;ENSP00000342797:Q24K	ENSP00000218197:Q27K	Q	+	1	0	SLC25A14	129306840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.133000	0.57983	2.348000	0.79779	0.594000	0.82650	CAG		0.373	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951	
