#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_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
PLEKHM2	23207	broad.mit.edu	37	1	16057121	16057121	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr1:16057121C>G	ENST00000375799.3	+	15	2530	c.2303C>G	c.(2302-2304)cCc>cGc	p.P768R	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.P748R	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	768	Interaction with sifA.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)	p.P871R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGCTCACCCCCCGAGGGCACC	0.637																																																1	Substitution - Missense(1)	ovary(1)	1											42.0	49.0	46.0					1																	16057121		2095	4216	6311	15929708	SO:0001583	missense	23207			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2303C>G	1.37:g.16057121C>G	ENSP00000364956:p.Pro768Arg		15929708	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	CCDS44063.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	8.462	0.855436	0.17106	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.11385	2.78;2.78	5.49	3.36	0.38483	.	0.589375	0.18319	N	0.144874	T	0.04272	0.0118	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39840	-0.9594	10	0.25106	T	0.35	-10.172	7.2114	0.25935	0.0:0.668:0.1421:0.1899	.	768	Q8IWE5	PKHM2_HUMAN	R	768;748	ENSP00000364956:P768R;ENSP00000364950:P748R	ENSP00000364950:P748R	P	+	2	0	PLEKHM2	15929708	0.001000	0.12720	0.835000	0.33067	0.653000	0.38743	0.931000	0.28871	1.314000	0.45095	0.655000	0.94253	CCC		0.637	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		Missense_Mutation
AZIN2	113451	broad.mit.edu	37	1	33549673	33549673	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0905-01	TCGA-13-0905-10			C	G	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr1:33549673C>G	ENST00000294517.6	+	5	811	c.224C>G	c.(223-225)cCa>cGa	p.P75R	ADC_ENST00000373440.1_Missense_Mutation_p.P75R|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000358680.3_Missense_Mutation_p.P75R|ADC_ENST00000373443.3_Missense_Mutation_p.P75R|ADC_ENST00000398167.1_Missense_Mutation_p.P75R|ADC_ENST00000373441.1_Missense_Mutation_p.P75R	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		75					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)	p.P75R(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	AACAGCAGCCCAGGTGTGCTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											77.0	70.0	73.0					1																	33549673		2203	4300	6503	33322260	SO:0001583	missense	113451																														ENST00000294517.6:c.224C>G	1.37:g.33549673C>G	ENSP00000294517:p.Pro75Arg		33322260	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	CCDS375.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	7.741	0.701278	0.15172	.	.	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000358680;ENST00000373443;ENST00000398167;ENST00000373440;ENST00000373441	T;T;T;T;T;T	0.51817	0.69;0.8;0.69;0.71;0.8;0.71	4.84	0.509	0.16977	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.677310	0.13548	N	0.379704	T	0.20251	0.0487	N	0.15975	0.35	0.09310	N	0.999997	B;B;B;B	0.09022	0.002;0.002;0.001;0.002	B;B;B;B	0.11329	0.006;0.005;0.003;0.004	T	0.19943	-1.0290	10	0.07175	T	0.84	-1.1564	1.0325	0.01541	0.1795:0.281:0.1249:0.4146	.	75;75;75;75	Q96A70-2;Q96A70-5;Q96A70-3;Q96A70	.;.;.;ADC_HUMAN	R	75	ENSP00000294517:P75R;ENSP00000351508:P75R;ENSP00000362542:P75R;ENSP00000381233:P75R;ENSP00000362539:P75R;ENSP00000362540:P75R	ENSP00000294517:P75R	P	+	2	0	ADC	33322260	0.000000	0.05858	0.209000	0.23619	0.977000	0.68977	-0.947000	0.03901	-0.108000	0.12066	0.557000	0.71058	CCA		0.592	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			Missense_Mutation
MAP7D1	55700	broad.mit.edu	37	1	36641855	36641855	+	Silent	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr1:36641855G>A	ENST00000373151.2	+	7	1122	c.906G>A	c.(904-906)acG>acA	p.T302T	MAP7D1_ENST00000316156.4_Silent_p.T265T|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.T302T	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	302					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.T302T(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GTCTGATGACGCCCACTCTCT	0.682																																																1	Substitution - coding silent(1)	ovary(1)	1											20.0	23.0	22.0					1																	36641855		2164	4280	6444	36414442	SO:0001819	synonymous_variant	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.906G>A	1.37:g.36641855G>A			36414442	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	CCDS30673.1	SNP	38	Broad																																																																																				0.682	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		Silent
ZC3H12A	80149	broad.mit.edu	37	1	37949076	37949076	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr1:37949076G>A	ENST00000373087.6	+	6	1780	c.1664G>A	c.(1663-1665)aGc>aAc	p.S555N		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.S555N(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCAGGCCAGCGTGTATACT	0.682																																																1	Substitution - Missense(1)	ovary(1)	1											53.0	61.0	58.0					1																	37949076		2203	4300	6503	37721663	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1664G>A	1.37:g.37949076G>A	ENSP00000362179:p.Ser555Asn		37721663		Missense_Mutation	SNP	ENST00000373087.6	37	CCDS417.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	7.671	0.686896	0.14973	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.49432	0.78	5.29	3.41	0.39046	.	0.602001	0.19720	N	0.107604	T	0.36496	0.0969	L	0.40543	1.245	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.001	T	0.21793	-1.0235	10	0.37606	T	0.19	-4.0199	9.5555	0.39337	0.2687:0.0:0.7313:0.0	.	350;555	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	N	555	ENSP00000362179:S555N	ENSP00000362174:S555N	S	+	2	0	ZC3H12A	37721663	0.989000	0.36119	0.959000	0.39883	0.964000	0.63967	0.923000	0.28757	1.224000	0.43551	0.561000	0.74099	AGC		0.682	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		Missense_Mutation
RRAGC	64121	broad.mit.edu	37	1	39321527	39321527	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0905-01	TCGA-13-0905-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr1:39321527T>C	ENST00000373001.3	-	3	670	c.494A>G	c.(493-495)tAc>tGc	p.Y165C		NM_022157.2	NP_071440.1			Ras-related GTP binding C									p.Y165C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GTTAACTTTGTAGGCTTTAGA	0.333																																																1	Substitution - Missense(1)	ovary(1)	1											86.0	88.0	87.0					1																	39321527		2203	4300	6503	39094114	SO:0001583	missense	64121			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.494A>G	1.37:g.39321527T>C	ENSP00000362092:p.Tyr165Cys		39094114		Missense_Mutation	SNP	ENST00000373001.3	37	CCDS430.1	SNP	57	Broad	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427864	0.62733	.	.	ENSG00000116954	ENST00000373001	D	0.82433	-1.61	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.82545	0.5060	M	0.63428	1.95	0.80722	D	1	B;B;B	0.22983	0.045;0.078;0.033	B;B;B	0.25506	0.053;0.061;0.042	T	0.79215	-0.1895	10	0.52906	T	0.07	-17.8047	16.6245	0.84952	0.0:0.0:0.0:1.0	.	131;99;165	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	C	165	ENSP00000362092:Y165C	ENSP00000362092:Y165C	Y	-	2	0	RRAGC	39094114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.187000	0.72039	2.323000	0.78572	0.528000	0.53228	TAC		0.333	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		Missense_Mutation
CC2D1B	200014	broad.mit.edu	37	1	52823368	52823368	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr1:52823368G>A	ENST00000371586.2	-	15	1738	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R528W	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	534						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R534W(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						AGCTGCTCCCGCACTGAAGGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											28.0	23.0	25.0					1																	52823368		2203	4300	6503	52595956	SO:0001583	missense	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1600C>T	1.37:g.52823368G>A	ENSP00000360642:p.Arg534Trp		52595956	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	CCDS30714.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367183	0.61513	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.30714	1.52;1.52	5.41	4.5	0.54988	.	0.711387	0.14200	N	0.334781	T	0.38746	0.1052	L	0.57536	1.79	0.37540	D	0.91825	D;D;D	0.65815	0.991;0.995;0.991	B;P;P	0.50708	0.446;0.648;0.549	T	0.44406	-0.9330	10	0.87932	D	0	-1.4538	8.5879	0.33668	0.0798:0.0:0.7677:0.1525	.	314;528;534	Q5T0G1;Q5T0F9-2;Q5T0F9	.;.;C2D1B_HUMAN	W	534;528;442	ENSP00000360642:R534W;ENSP00000284376:R528W	ENSP00000284376:R528W	R	-	1	2	CC2D1B	52595956	0.124000	0.22315	0.975000	0.42487	0.697000	0.40408	1.479000	0.35453	1.523000	0.49018	0.561000	0.74099	CGG		0.622	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		Missense_Mutation
PDE4B	5142	broad.mit.edu	37	1	66829221	66829221	+	Silent	SNP	G	G	T			TCGA-13-0905-01	TCGA-13-0905-10			G	T	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr1:66829221G>T	ENST00000329654.4	+	12	1438	c.1251G>T	c.(1249-1251)tcG>tcT	p.S417S	PDE4B_ENST00000371049.3_Silent_p.S417S|PDE4B_ENST00000423207.2_Silent_p.S402S|PDE4B_ENST00000371045.5_Silent_p.S245S|PDE4B_ENST00000480109.2_Silent_p.S184S	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	417					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S402S(1)|p.S417S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TAGCCCAGTCGACCCATGTTC	0.448																																																2	Substitution - coding silent(2)	ovary(2)	1											94.0	82.0	86.0					1																	66829221		2203	4300	6503	66601809	SO:0001819	synonymous_variant	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1251G>T	1.37:g.66829221G>T			66601809	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	CCDS632.1	SNP	37	Broad																																																																																				0.448	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		Silent
SCAMP3	10067	broad.mit.edu	37	1	155231929	155231929	+	Missense_Mutation	SNP	C	C	G	rs369270567		TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr1:155231929C>G	ENST00000302631.3	-	1	121	c.14G>C	c.(13-15)aGa>aCa	p.R5T	CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Missense_Mutation_p.R5T|SCAMP3_ENST00000472397.1_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	5					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.R5T(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCGCCGTCTCTGCTCTGAGC	0.642																																																1	Substitution - Missense(1)	ovary(1)	1						C	THR/ARG,THR/ARG	0,4406		0,0,2203	73.0	73.0	73.0		14,14	1.2	0.8	1		73	1,8599		0,1,4299	no	missense,missense	SCAMP3	NM_005698.3,NM_052837.2	71,71	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	5/348,5/322	155231929	1,13005	2203	4300	6503	153498553	SO:0001583	missense	10067			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.14G>C	1.37:g.155231929C>G	ENSP00000307275:p.Arg5Thr		153498553	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	CCDS1105.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	.	16.32	3.090272	0.55968	0.0	1.16E-4	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.18810	2.53;2.19	5.23	1.16	0.20824	.	0.529362	0.19056	N	0.123882	T	0.04227	0.0117	L	0.38175	1.15	0.24597	N	0.993792	B;B;B	0.25007	0.116;0.0;0.089	B;B;B	0.20767	0.031;0.001;0.015	T	0.41070	-0.9529	10	0.21540	T	0.41	-1.0472	5.7081	0.17919	0.0:0.525:0.3042:0.1708	.	5;5;5	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	T	5	ENSP00000307275:R5T;ENSP00000347540:R5T	ENSP00000307275:R5T	R	-	2	0	SCAMP3	153498553	0.022000	0.18835	0.824000	0.32777	0.961000	0.63080	0.279000	0.18771	0.342000	0.23796	-0.182000	0.12963	AGA		0.642	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		Missense_Mutation
OR6Y1	391112	broad.mit.edu	37	1	158517256	158517256	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr1:158517256T>G	ENST00000302617.3	-	1	639	c.640A>C	c.(640-642)Att>Ctt	p.I214L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I214L(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAAAGAGGAATAGCAATGACC	0.522																																																1	Substitution - Missense(1)	ovary(1)	1											107.0	100.0	102.0					1																	158517256		2202	4300	6502	156783880	SO:0001583	missense	391112			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.640A>C	1.37:g.158517256T>G	ENSP00000304807:p.Ile214Leu		156783880	Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	CCDS30899.1	SNP	49	Broad	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.676334	0.00751	.	.	ENSG00000197532	ENST00000302617	T	0.35605	1.3	5.34	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.407082	0.17696	N	0.165085	T	0.04318	0.0119	N	0.10645	0.015	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45011	-0.9290	10	0.10902	T	0.67	.	5.733	0.18051	0.0:0.3356:0.3998:0.2646	.	214	Q8NGX8	OR6Y1_HUMAN	L	214	ENSP00000304807:I214L	ENSP00000304807:I214L	I	-	1	0	OR6Y1	156783880	0.000000	0.05858	0.506000	0.27664	0.219000	0.24729	-1.266000	0.02842	-0.008000	0.14320	-2.581000	0.00168	ATT		0.522	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		Missense_Mutation
TARBP1	6894	broad.mit.edu	37	1	234565355	234565355	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr1:234565355C>T	ENST00000040877.1	-	16	2677	c.2678G>A	c.(2677-2679)tGg>tAg	p.W893*		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	893					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.W893*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GAGGCACACCCATTGATCATG	0.393																																																1	Substitution - Nonsense(1)	ovary(1)	1											99.0	100.0	100.0					1																	234565355		2203	4300	6503	232631978	SO:0001587	stop_gained	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2678G>A	1.37:g.234565355C>T	ENSP00000040877:p.Trp893*		232631978	Q9H581	Nonsense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	38	7.212595	0.98139	.	.	ENSG00000059588	ENST00000040877	.	.	.	5.58	4.67	0.58626	.	0.116202	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4785	14.8064	0.69959	0.0:0.9303:0.0:0.0696	.	.	.	.	X	893	.	ENSP00000040877:W893X	W	-	2	0	TARBP1	232631978	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	5.623000	0.67757	1.497000	0.48584	-0.140000	0.14226	TGG		0.393	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		Nonsense_Mutation
RPP38	10557	broad.mit.edu	37	10	15145376	15145376	+	Silent	SNP	G	G	T			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr10:15145376G>T	ENST00000378197.4	+	3	577	c.63G>T	c.(61-63)gtG>gtT	p.V21V	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Silent_p.V21V	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	21					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)	p.V21V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CTCTGGTTGTGAAGACGTCGT	0.507																																					GBM(118;1591 1611 9649 34378 50720)											1	Substitution - coding silent(1)	ovary(1)	10											72.0	75.0	74.0					10																	15145376		2203	4300	6503	15185382	SO:0001819	synonymous_variant	10557			U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.63G>T	10.37:g.15145376G>T			15185382	B3KPY0|D3DRT8|Q53F71|Q8NHS8	Silent	SNP	ENST00000378197.4	37	CCDS7108.1	SNP	45	Broad																																																																																				0.507	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		Silent
DMBT1	1755	broad.mit.edu	37	10	124390549	124390549	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr10:124390549G>T	ENST00000338354.3	+	46	5817	c.5711G>T	c.(5710-5712)gGt>gTt	p.G1904V	DMBT1_ENST00000330163.4_Missense_Mutation_p.G1276V|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1894V|DMBT1_ENST00000359586.6_Missense_Mutation_p.G624V|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1904V|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1276V|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1894V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1904	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.G2033V(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTTACCATGGTGGCACCTGG	0.493																																					Ovarian(182;93 2026 18125 22222 38972)											1	Substitution - Missense(1)	ovary(1)	10											128.0	124.0	125.0					10																	124390549		2001	4161	6162	124380539	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5711G>T	10.37:g.124390549G>T	ENSP00000342210:p.Gly1904Val		124380539	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239565	0.39598	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.3	-6.03	0.02185	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.48021	0.1477	M	0.64404	1.975	0.09310	N	1	P;D;P;D;D;D;D	0.89917	0.951;0.998;0.589;0.998;1.0;0.99;0.971	P;D;B;D;D;D;D	0.79108	0.674;0.947;0.272;0.991;0.992;0.92;0.93	T	0.53599	-0.8416	9	0.54805	T	0.06	.	15.174	0.72896	0.7333:0.0:0.2667:0.0	.	624;1884;1153;2033;1276;1894;1904	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	V	1904;2033;1904;1904;1904;1904;1276;1894;1276;1276;1904;1894;1276;50;624	ENSP00000342210:G1904V;ENSP00000343175:G1894V;ENSP00000327747:G1276V;ENSP00000357905:G1904V;ENSP00000357951:G1894V;ENSP00000357952:G1276V;ENSP00000352593:G624V	ENSP00000331522:G1276V	G	+	2	0	DMBT1	124380539	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.548000	0.02184	-0.980000	0.03524	-0.136000	0.14681	GGT		0.493	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		Missense_Mutation
QSER1	79832	broad.mit.edu	37	11	32956729	32956729	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr11:32956729G>C	ENST00000399302.2	+	4	3873	c.3538G>C	c.(3538-3540)Ggg>Cgg	p.G1180R	QSER1_ENST00000527788.1_Missense_Mutation_p.G941R	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1180								p.G1180R(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TAGACGGCCAGGGACCCAGAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	11											101.0	102.0	102.0					11																	32956729		1905	4109	6014	32913305	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3538G>C	11.37:g.32956729G>C	ENSP00000382241:p.Gly1180Arg		32913305	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	SNP	35	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.662512|2.662512	0.47572|0.47572	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.23754|.	2.21;1.89|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.173913|.	0.39544|.	N|.	0.001327|.	T|T	0.55386|0.55386	0.1917|0.1917	L|L	0.57536|0.57536	1.79|1.79	0.27798|0.27798	N|N	0.942591|0.942591	D;D;D|.	0.76494|.	0.999;0.998;0.966|.	D;D;P|.	0.71656|.	0.974;0.931;0.641|.	T|T	0.51880|0.51880	-0.8649|-0.8649	10|5	0.52906|.	T|.	0.07|.	.|.	13.884|13.884	0.63698|0.63698	0.0:0.0:0.8475:0.1525|0.0:0.0:0.8475:0.1525	.|.	941;941;1180|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	R|H	1180;941;941|200	ENSP00000382241:G1180R;ENSP00000432766:G941R|.	ENSP00000078652:G941R|.	G|Q	+|+	1|3	0|2	QSER1|QSER1	32913305|32913305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	3.842000|3.842000	0.55858|0.55858	2.494000|2.494000	0.84150|0.84150	0.467000|0.467000	0.42956|0.42956	GGG|CAG		0.483	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		Missense_Mutation
GYLTL1B	120071	broad.mit.edu	37	11	45948882	45948882	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr11:45948882G>T	ENST00000531526.1	+	11	1453	c.1342G>T	c.(1342-1344)Gcc>Tcc	p.A448S	GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A417S|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A448S|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A417S|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A175S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A448S	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	448					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A448S(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GATGTTGGAAGCCCTGTGCAG	0.617																																																1	Substitution - Missense(1)	ovary(1)	11											60.0	55.0	57.0					11																	45948882		2203	4299	6502	45905458	SO:0001583	missense	120071				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1342G>T	11.37:g.45948882G>T	ENSP00000432869:p.Ala448Ser		45905458	A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	CCDS31473.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143847	0.57044	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	5.89	4.98	0.66077	.	0.208186	0.49916	D	0.000121	T	0.24928	0.0605	M	0.68593	2.085	0.47153	D	0.999336	B;B;B	0.26445	0.149;0.036;0.019	B;B;B	0.32211	0.142;0.1;0.043	T	0.03684	-1.1013	10	0.29301	T	0.29	-8.9342	10.3528	0.43945	0.0702:0.1349:0.7949:0.0	.	417;417;448	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	S	417;448;448;175;448;417	ENSP00000431932:A417S;ENSP00000432869:A448S;ENSP00000385235:A448S;ENSP00000374618:A175S;ENSP00000324570:A448S;ENSP00000445044:A417S	ENSP00000324570:A448S	A	+	1	0	GYLTL1B	45905458	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.326000	0.65875	1.492000	0.48499	0.655000	0.94253	GCC		0.617	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		Missense_Mutation
B3GAT3	26229	broad.mit.edu	37	11	62384591	62384591	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01	TCGA-13-0905-10			G	C	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr11:62384591G>C	ENST00000265471.5	-	3	713	c.486C>G	c.(484-486)aaC>aaG	p.N162K	B3GAT3_ENST00000531383.1_Missense_Mutation_p.N162K|B3GAT3_ENST00000534026.1_Missense_Mutation_p.N162K	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	162					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)	p.N162K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CCAGGGCCTTGTTCCGCTGCT	0.662																																																1	Substitution - Missense(1)	ovary(1)	11											53.0	55.0	54.0					11																	62384591		2202	4299	6501	62141167	SO:0001583	missense	26229			AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.486C>G	11.37:g.62384591G>C	ENSP00000265471:p.Asn162Lys		62141167	B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	CCDS8025.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	g	17.13	3.312055	0.60414	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.56	3.59	0.41128	.	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.99;0.996	D	0.87634	0.2518	10	0.87932	D	0	.	7.3736	0.26815	0.2863:0.0:0.7137:0.0	.	162;168;162	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	K	162;162;162;185	ENSP00000265471:N162K;ENSP00000431359:N162K;ENSP00000432474:N162K;ENSP00000432854:N185K	ENSP00000265471:N162K	N	-	3	2	B3GAT3	62141167	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.159000	0.42339	0.624000	0.30286	0.556000	0.70494	AAC		0.662	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		Missense_Mutation
UTP20	27340	broad.mit.edu	37	12	101684036	101684036	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr12:101684036A>T	ENST00000261637.4	+	7	893	c.719A>T	c.(718-720)cAc>cTc	p.H240L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	240					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.H240L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AATATGTTTCACTCCTGTACA	0.393																																																1	Substitution - Missense(1)	ovary(1)	12											82.0	83.0	83.0					12																	101684036		2203	4300	6503	100208167	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.719A>T	12.37:g.101684036A>T	ENSP00000261637:p.His240Leu		100208167	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	SNP	6	Broad	.	.	.	.	.	.	.	.	.	.	A	26.6	4.754396	0.89843	.	.	ENSG00000120800	ENST00000261637	T	0.63255	-0.03	5.8	5.8	0.92144	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78773	0.4336	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81138	-0.1069	10	0.87932	D	0	-15.5892	16.1611	0.81712	1.0:0.0:0.0:0.0	.	240	O75691	UTP20_HUMAN	L	240	ENSP00000261637:H240L	ENSP00000261637:H240L	H	+	2	0	UTP20	100208167	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.134000	0.94467	2.213000	0.71641	0.477000	0.44152	CAC		0.393	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		Missense_Mutation
LCP1	3936	broad.mit.edu	37	13	46732676	46732676	+	Silent	SNP	G	G	T			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr13:46732676G>T	ENST00000398576.2	-	7	727	c.339C>A	c.(337-339)ggC>ggA	p.G113G	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Silent_p.G113G			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	113	Actin-binding 1.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.G113G(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AGTGTTGGGTGCCAACGCTAG	0.438			T	BCL6	NHL																																		Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	1	Substitution - coding silent(1)	ovary(1)	13											151.0	135.0	141.0					13																	46732676		2203	4300	6503	45630677	SO:0001819	synonymous_variant	3936			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.339C>A	13.37:g.46732676G>T			45630677	B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	CCDS9403.1	SNP	46	Broad																																																																																				0.438	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		Silent
CGRRF1	10668	broad.mit.edu	37	14	54989273	54989273	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr14:54989273G>C	ENST00000216420.7	+	2	338	c.206G>C	c.(205-207)gGc>gCc	p.G69A	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	69					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G69A(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AATCCTTTTGGCTTAGAGATC	0.373																																																1	Substitution - Missense(1)	ovary(1)	14											120.0	116.0	117.0					14																	54989273		2203	4300	6503	54059023	SO:0001583	missense	10668			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.206G>C	14.37:g.54989273G>C	ENSP00000216420:p.Gly69Ala		54059023	Q96BX2	Missense_Mutation	SNP	ENST00000216420.7	37	CCDS9719.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237239	0.58886	.	.	ENSG00000100532	ENST00000216420;ENST00000557317	T;T	0.25414	1.8;1.92	5.84	5.84	0.93424	.	0.252645	0.45606	D	0.000344	T	0.25044	0.0608	L	0.39633	1.23	0.43971	D	0.996656	P;P	0.39424	0.612;0.673	B;B	0.38225	0.206;0.268	T	0.02026	-1.1227	10	0.15066	T	0.55	-10.2564	20.1294	0.97995	0.0:0.0:1.0:0.0	.	69;69	B2RCX4;Q99675	.;CGRF1_HUMAN	A	69	ENSP00000216420:G69A;ENSP00000450430:G69A	ENSP00000216420:G69A	G	+	2	0	CGRRF1	54059023	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.125000	0.57931	2.758000	0.94735	0.591000	0.81541	GGC		0.373	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		Missense_Mutation
FNTB	2342	broad.mit.edu	37	14	65521330	65521330	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr14:65521330G>A	ENST00000246166.2	+	11	1339	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.G404S|FNTB_ENST00000542227.1_Missense_Mutation_p.G323S|FNTB_ENST00000447296.2_Missense_Mutation_p.G403S|MAX_ENST00000341653.2_Intron	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	369					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)	p.G369S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTGCCTGAGCGGCCTGTCCAT	0.592																																																1	Substitution - Missense(1)	ovary(1)	14											82.0	61.0	68.0					14																	65521330		2203	4300	6503	64591083	SO:0001583	missense	2342				CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.1105G>A	14.37:g.65521330G>A	ENSP00000246166:p.Gly369Ser		64591083	B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	CCDS9769.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	36	5.673758	0.96754	.	.	ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000257365	ENST00000542227;ENST00000549987;ENST00000447296;ENST00000448390;ENST00000246166	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.08	5.08	0.68730	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	D	0.84575	0.5502	H	0.99197	4.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.995;1.0	D	0.91105	0.4917	10	0.87932	D	0	-21.1403	17.408	0.87479	0.0:0.0:1.0:0.0	.	372;323;403;369	Q86TX8;B4E1A0;B4DL54;P49356	.;.;.;FNTB_HUMAN	S	323;404;403;125;369	ENSP00000443140:G323S;ENSP00000447121:G404S;ENSP00000406393:G403S;ENSP00000399362:G125S;ENSP00000246166:G369S	ENSP00000246166:G369S	G	+	1	0	FNTB;AL139022.1	64591083	1.000000	0.71417	0.886000	0.34754	0.991000	0.79684	9.053000	0.93860	2.654000	0.90174	0.549000	0.68633	GGC		0.592	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		Missense_Mutation
SERPINA5	5104	broad.mit.edu	37	14	95053850	95053850	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr14:95053850G>C	ENST00000554866.1	+	2	265	c.151G>C	c.(151-153)Gac>Cac	p.D51H	SERPINA5_ENST00000554276.1_Missense_Mutation_p.D51H|SERPINA5_ENST00000329597.7_Missense_Mutation_p.D51H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.D51H			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	51					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D51H(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTACCTTTGACCTCTACAG	0.627																																																1	Substitution - Missense(1)	ovary(1)	14											46.0	44.0	45.0					14																	95053850		2203	4300	6503	94123603	SO:0001583	missense	5104			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.151G>C	14.37:g.95053850G>C	ENSP00000451126:p.Asp51His		94123603	Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	CCDS9928.1	SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	2.162	-0.391947	0.04932	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000553511;ENST00000554633;ENST00000555681;ENST00000438291;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	4.11	1.2	0.21068	Serpin domain (3);	0.758895	0.11989	N	0.510024	T	0.80352	0.4607	M	0.65975	2.015	0.09310	N	1	B;B	0.33238	0.403;0.055	B;B	0.29267	0.1;0.029	T	0.68032	-0.5516	10	0.48119	T	0.1	.	6.7996	0.23744	0.5448:0.0:0.4552:0.0	.	51;51	G3V5Q9;P05154	.;IPSP_HUMAN	H	51	ENSP00000450484:D51H;ENSP00000450837:D51H;ENSP00000452469:D51H;ENSP00000451126:D51H;ENSP00000333203:D51H;ENSP00000450745:D51H;ENSP00000451215:D51H;ENSP00000451697:D51H;ENSP00000451650:D51H;ENSP00000451610:D51H;ENSP00000450485:D51H	ENSP00000333203:D51H	D	+	1	0	SERPINA5	94123603	0.000000	0.05858	0.116000	0.21606	0.026000	0.11368	-1.005000	0.03674	0.140000	0.18849	-0.291000	0.09656	GAC		0.627	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		Missense_Mutation
CHP1	11261	broad.mit.edu	37	15	41571019	41571019	+	Missense_Mutation	SNP	G	G	A	rs79101281		TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr15:41571019G>A	ENST00000334660.5	+	6	706	c.466G>A	c.(466-468)Gca>Aca	p.A156T	CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Intron	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	156	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for nuclear export signal.				calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)	p.A156T(1)									GGGCAGCATCGCAGACAGGAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	15											151.0	123.0	133.0					15																	41571019		2203	4300	6503	39358311	SO:0001583	missense	11261				CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.466G>A	15.37:g.41571019G>A	ENSP00000335632:p.Ala156Thr		39358311	B2R6H9|Q6FHZ9	Missense_Mutation	SNP	ENST00000334660.5	37	CCDS10073.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419975	0.83559	.	.	ENSG00000187446	ENST00000334660	T	0.72282	-0.64	5.27	5.27	0.74061	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	L	0.53617	1.68	0.80722	D	1	B	0.16396	0.017	B	0.17098	0.017	T	0.65125	-0.6244	10	0.45353	T	0.12	-11.5245	18.4773	0.90798	0.0:0.0:1.0:0.0	.	156	Q99653	CHP1_HUMAN	T	156	ENSP00000335632:A156T	ENSP00000335632:A156T	A	+	1	0	AC012652.1	39358311	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.733000	0.98818	2.467000	0.83353	0.591000	0.81541	GCA		0.473	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		Missense_Mutation
ARPIN	348110	broad.mit.edu	37	15	90456018	90456018	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr15:90456018C>T	ENST00000357484.5	-	1	170	c.50G>A	c.(49-51)aGc>aAc	p.S17N	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.S17N|C15orf38_ENST00000460685.1_5'Flank	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		17					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)		p.S17N(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CAGCCGGACGCTCTGCACCGC	0.761																																																1	Substitution - Missense(1)	ovary(1)	15											3.0	4.0	3.0					15																	90456018		1617	3601	5218	88257022	SO:0001583	missense	348110																														ENST00000357484.5:c.50G>A	15.37:g.90456018C>T	ENSP00000350075:p.Ser17Asn		88257022	E2QRD5	Missense_Mutation	SNP	ENST00000357484.5	37	CCDS42080.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	3.191	-0.165833	0.06461	.	.	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.42131	0.98	4.78	2.88	0.33553	.	0.440036	0.22346	U	0.061271	T	0.19327	0.0464	N	0.11789	0.175	0.25735	N	0.985228	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.19582	-1.0301	10	0.11182	T	0.66	-20.443	6.4264	0.21772	0.0:0.7791:0.0:0.2209	.	17;17	Q7Z6K5;E2QRD5	CO038_HUMAN;.	N	17	ENSP00000381377:S17N	ENSP00000381377:S17N	S	-	2	0	C15orf38-AP3S2;C15orf38	88257022	0.996000	0.38824	0.010000	0.14722	0.189000	0.23516	1.073000	0.30691	0.999000	0.39023	0.563000	0.77884	AGC		0.761	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			Missense_Mutation
ERCC4	2072	broad.mit.edu	37	16	14029160	14029160	+	Silent	SNP	C	C	T			TCGA-13-0905-01	TCGA-13-0905-10			C	T	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr16:14029160C>T	ENST00000311895.7	+	8	1380	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	457	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.D457D(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GGAAGGAAGACAGTTCAAAGA	0.413			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	1	Substitution - coding silent(1)	ovary(1)	16											76.0	78.0	77.0					16																	14029160		2197	4300	6497	13936661	SO:0001819	synonymous_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1371C>T	16.37:g.14029160C>T			13936661	A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	CCDS32390.1	SNP	17	Broad																																																																																				0.413	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		Silent
PRKCB	5579	broad.mit.edu	37	16	24166095	24166095	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0905-01	TCGA-13-0905-10			T	A	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr16:24166095T>A	ENST00000321728.7	+	10	1331	c.1156T>A	c.(1156-1158)Tgc>Agc	p.C386S	PRKCB_ENST00000303531.7_Missense_Mutation_p.C386S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.C386S(1)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TGACGTGGAGTGCACTATGGT	0.542																																																1	Substitution - Missense(1)	ovary(1)	16											167.0	127.0	141.0					16																	24166095		2197	4300	6497	24073596	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1156T>A	16.37:g.24166095T>A	ENSP00000318315:p.Cys386Ser		24073596	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	SNP	59	Broad	.	.	.	.	.	.	.	.	.	.	T	29.3	4.996440	0.93167	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.63096	-0.02;-0.02	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	N	0.03154	-0.405	0.80722	D	1	P;D	0.57571	0.942;0.98	P;P	0.53518	0.608;0.728	T	0.57528	-0.7796	10	0.28530	T	0.3	.	15.7569	0.78037	0.0:0.0:0.0:1.0	.	386;386	P05771-2;P05771	.;KPCB_HUMAN	S	386	ENSP00000318315:C386S;ENSP00000305355:C386S	ENSP00000305355:C386S	C	+	1	0	PRKCB	24073596	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	TGC		0.542	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	G	rs28934576		TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr17:7577120C>G	ENST00000269305.4	-	8	1007	c.818G>C	c.(817-819)cGt>cCt	p.R273P	TP53_ENST00000359597.4_Missense_Mutation_p.R273P|TP53_ENST00000455263.2_Missense_Mutation_p.R273P|TP53_ENST00000420246.2_Missense_Mutation_p.R273P|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273P	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	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.818G>C	17.37:g.7577120C>G	ENSP00000269305:p.Arg273Pro		7517845	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	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207909	0.79240	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99873	0.9940	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.997	D	0.96359	0.9264	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	273;273;273;273;273;262;141	ENSP00000352610:R273P;ENSP00000269305:R273P;ENSP00000398846:R273P;ENSP00000391127:R273P;ENSP00000391478:R273P;ENSP00000425104:R141P	ENSP00000269305:R273P	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
LDLRAD4	753	broad.mit.edu	37	18	13645397	13645397	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr18:13645397T>G	ENST00000359446.5	+	6	1130	c.662T>G	c.(661-663)aTt>aGt	p.I221S	RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.I221S|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.I203S|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.I184S|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.I144S|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.I166S|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.I123S	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	221					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.I221S(1)									TTAATAGACATTGCTATGTAT	0.582																																																1	Substitution - Missense(1)	ovary(1)	18											76.0	83.0	80.0					18																	13645397		2203	4300	6503	13635397	SO:0001583	missense	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.662T>G	18.37:g.13645397T>G	ENSP00000352420:p.Ile221Ser		13635397	B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	CCDS32793.1	SNP	52	Broad	.	.	.	.	.	.	.	.	.	.	T	7.898	0.733768	0.15574	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.25912	1.79;1.77	5.07	1.87	0.25490	.	0.401212	0.31156	N	0.008149	T	0.15262	0.0368	N	0.17312	0.475	0.39473	D	0.967761	P;P;P;P;B;B	0.51791	0.688;0.907;0.893;0.948;0.452;0.212	B;B;B;P;B;B	0.44990	0.276;0.371;0.36;0.466;0.164;0.079	T	0.08472	-1.0720	10	0.21014	T	0.42	-0.091	8.8697	0.35309	0.0:0.1876:0.0:0.8124	.	145;163;166;184;203;221	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	S	221;203;184;166;163;145	ENSP00000354753:I221S;ENSP00000382741:I203S	ENSP00000352420:I184S	I	+	2	0	C18orf1	13635397	0.996000	0.38824	0.002000	0.10522	0.325000	0.28411	2.391000	0.44424	0.200000	0.20447	0.533000	0.62120	ATT		0.582	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		Missense_Mutation
CPAMD8	27151	broad.mit.edu	37	19	17120120	17120120	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0905-01	TCGA-13-0905-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr19:17120120T>C	ENST00000443236.1	-	6	669	c.638A>G	c.(637-639)tAc>tGc	p.Y213C	CPAMD8_ENST00000388925.4_Missense_Mutation_p.Y166C|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	166						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y213C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CACCAGGATGTAGGCTTCCAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											134.0	139.0	138.0					19																	17120120		2055	4206	6261	16981120	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.638A>G	19.37:g.17120120T>C	ENSP00000402505:p.Tyr213Cys		16981120	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	SNP	57	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.40|11.40	1.628045|1.628045	0.28978|0.28978	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440;ENST00000388925	.|T;T	.|0.74421	.|-0.84;-0.84	2.53|2.53	2.53|2.53	0.30540|0.30540	.|Alpha-2-macroglobulin, N-terminal (1);	.|0.471174	.|0.18814	.|N	.|0.130437	D|D	0.84795|0.84795	0.5551|0.5551	M|M	0.90870|0.90870	3.155|3.155	0.22903|0.22903	N|N	0.998586|0.998586	.|D	.|0.67145	.|0.996	.|P	.|0.61533	.|0.89	T|T	0.74293|0.74293	-0.3712|-0.3712	5|10	.|0.44086	.|T	.|0.13	.|.	7.9747|7.9747	0.30149|0.30149	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|166	.|Q8IZJ3	.|CPMD8_HUMAN	A|C	224|213;166	.|ENSP00000291440:Y213C;ENSP00000373577:Y166C	.|ENSP00000291440:Y213C	T|Y	-|-	1|2	0|0	CPAMD8|CPAMD8	16981120|16981120	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.396000|0.396000	0.30629|0.30629	2.503000|2.503000	0.45407|0.45407	0.943000|0.943000	0.37553|0.37553	0.455000|0.455000	0.32223|0.32223	ACA|TAC		0.562	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		Missense_Mutation
PKP4	8502	broad.mit.edu	37	2	159517858	159517858	+	Missense_Mutation	SNP	G	G	A	rs143377767		TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr2:159517858G>A	ENST00000389759.3	+	13	2219	c.2107G>A	c.(2107-2109)Gcg>Acg	p.A703T	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.A703T	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	703					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.A703T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCTCAGCTCCGCGGGGGAAGA	0.547										HNSCC(62;0.18)			G|||	1	0.000199681	0.0	0.0	5008	,	,		20402	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	2						G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	62.0	64.0	63.0		2107,2107	5.4	0.5	2	dbSNP_134	63	0,8600		0,0,4300	no	missense,missense	PKP4	NM_001005476.1,NM_003628.3	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	703/1150,703/1193	159517858	1,13005	2203	4300	6503	159226104	SO:0001583	missense	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2107G>A	2.37:g.159517858G>A	ENSP00000374409:p.Ala703Thr		159226104	Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185886	0.78789	2.27E-4	0.0	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.79141	-1.24;-1.24	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.79011	2.435	0.80722	D	1	D;D;P;D	0.60575	0.979;0.959;0.511;0.988	P;P;B;P	0.59221	0.634;0.56;0.067;0.854	D	0.86142	0.1582	10	0.42905	T	0.14	-13.7981	19.622	0.95660	0.0:0.0:1.0:0.0	.	658;703;703;554	Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	T	554;703;703	ENSP00000374407:A703T;ENSP00000374409:A703T	ENSP00000374407:A703T	A	+	1	0	PKP4	159226104	1.000000	0.71417	0.466000	0.27168	0.739000	0.42172	9.797000	0.99108	2.702000	0.92279	0.591000	0.81541	GCG		0.547	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			Missense_Mutation
CSRNP3	80034	broad.mit.edu	37	2	166535514	166535514	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr2:166535514G>C	ENST00000342316.4	+	5	1281	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	CSRNP3_ENST00000409420.1_Missense_Mutation_p.D369H|CSRNP3_ENST00000314499.7_Missense_Mutation_p.D337H	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	337	Glu-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D337H(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGAAGAATTAGATTGCCAAGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											72.0	75.0	74.0					2																	166535514		2203	4300	6503	166243760	SO:0001583	missense	80034			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1009G>C	2.37:g.166535514G>C	ENSP00000344042:p.Asp337His		166243760	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149868	0.57151	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.12465	3.33;2.68;2.68;2.68	5.77	5.77	0.91146	.	0.142165	0.64402	D	0.000007	T	0.28267	0.0698	L	0.29908	0.895	0.58432	D	0.999996	D	0.89917	1.0	D	0.71414	0.973	T	0.01004	-1.1484	10	0.72032	D	0.01	-29.1804	18.9827	0.92761	0.0:0.0:1.0:0.0	.	337	Q8WYN3	CSRN3_HUMAN	H	337;344;337;337;369	ENSP00000412081:D337H;ENSP00000318258:D337H;ENSP00000344042:D337H;ENSP00000387195:D369H	ENSP00000318258:D337H	D	+	1	0	CSRNP3	166243760	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	9.431000	0.97494	2.719000	0.93026	0.650000	0.86243	GAT		0.522	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		Missense_Mutation
FN1	2335	broad.mit.edu	37	2	216235109	216235109	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01	TCGA-13-0905-10			G	C	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr2:216235109G>C	ENST00000359671.1	-	40	6753	c.6488C>G	c.(6487-6489)aCc>aGc	p.T2163S	FN1_ENST00000336916.4_Missense_Mutation_p.T2132S|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Missense_Mutation_p.T1953S|FN1_ENST00000446046.1_Missense_Mutation_p.T2107S|FN1_ENST00000443816.1_Missense_Mutation_p.T2042S|FN1_ENST00000356005.4_Missense_Mutation_p.T2073S|FN1_ENST00000354785.4_Missense_Mutation_p.T2254S|FN1_ENST00000323926.6_Missense_Mutation_p.T2223S|FN1_ENST00000432072.2_Missense_Mutation_p.T2044S|FN1_ENST00000346544.3_Missense_Mutation_p.T2043S|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.T2017S			P02751	FINC_HUMAN	fibronectin 1	2163	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.T2132S(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGCACCTCTGGTGAGGCCTGT	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											113.0	97.0	102.0					2																	216235109		2203	4300	6503	215943354	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6488C>G	2.37:g.216235109G>C	ENSP00000352696:p.Thr2163Ser		215943354	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243045	0.58995	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.95	5.06	0.68205	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.078972	0.52532	D	0.000066	T	0.68824	0.3043	M	0.71581	2.175	0.80722	D	1	D;D;P;D;P;D;D;P;D;D;D;D;D	0.76494	0.998;0.988;0.86;0.993;0.86;0.994;0.995;0.911;0.995;0.988;0.994;0.999;0.999	D;D;B;D;B;D;D;P;D;D;D;D;D	0.85130	0.997;0.992;0.352;0.96;0.352;0.992;0.996;0.674;0.996;0.992;0.992;0.995;0.997	T	0.66720	-0.5852	10	0.10111	T	0.7	.	16.4148	0.83730	0.0:0.0:0.8673:0.1327	.	1923;2043;2044;2223;1953;2073;2107;2132;2164;2017;2042;2254;2163	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	S	2017;2223;2132;1953;2254;2164;2163;2043;2107;2042;2044;2073;880	ENSP00000394423:T2017S;ENSP00000323534:T2223S;ENSP00000338200:T2132S;ENSP00000350534:T1953S;ENSP00000346839:T2254S;ENSP00000352696:T2163S;ENSP00000265312:T2043S;ENSP00000410422:T2107S;ENSP00000415018:T2042S;ENSP00000399538:T2044S;ENSP00000348285:T2073S;ENSP00000416139:T880S	ENSP00000265313:T2164S	T	-	2	0	FN1	215943354	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.740000	0.74832	1.483000	0.48342	0.563000	0.77884	ACC		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		Missense_Mutation
ABCG1	9619	broad.mit.edu	37	21	43702433	43702433	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr21:43702433G>A	ENST00000361802.2	+	6	783	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	ABCG1_ENST00000398437.1_Missense_Mutation_p.R359Q|ABCG1_ENST00000340588.4_Missense_Mutation_p.R321Q|ABCG1_ENST00000398449.3_Missense_Mutation_p.R213Q|ABCG1_ENST00000398457.2_Missense_Mutation_p.R215Q|ABCG1_ENST00000347800.2_Missense_Mutation_p.R210Q|ABCG1_ENST00000343687.3_Missense_Mutation_p.R224Q|ABCG1_ENST00000462050.1_3'UTR	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	213	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.R213Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCCAACACGCGGACCGGGAGC	0.612																																																1	Substitution - Missense(1)	ovary(1)	21											60.0	58.0	58.0					21																	43702433		2203	4300	6503	42575502	SO:0001583	missense	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.638G>A	21.37:g.43702433G>A	ENSP00000354995:p.Arg213Gln		42575502	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	CCDS13682.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730530	0.89390	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;D;T;T;T;T;T	0.93811	1.71;1.71;-3.29;1.71;1.71;1.71;1.71;1.71	4.27	4.27	0.50696	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.063885	0.56097	N	0.000023	D	0.94195	0.8137	L	0.33624	1.015	0.54753	D	0.999985	P;B;D;B;P;D	0.71674	0.638;0.358;0.993;0.358;0.56;0.998	B;B;P;B;B;D	0.75484	0.103;0.091;0.883;0.058;0.197;0.986	D	0.93554	0.6889	9	.	.	.	-26.8417	17.065	0.86556	0.0:0.0:1.0:0.0	.	224;224;213;213;210;215	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	Q	215;210;196;213;213;224;359;321	ENSP00000381475:R215Q;ENSP00000291524:R210Q;ENSP00000414541:R196Q;ENSP00000381467:R213Q;ENSP00000354995:R213Q;ENSP00000339744:R224Q;ENSP00000381464:R359Q;ENSP00000343820:R321Q	.	R	+	2	0	ABCG1	42575502	1.000000	0.71417	0.995000	0.50966	0.756000	0.42949	7.557000	0.82243	2.093000	0.63338	0.591000	0.81541	CGG		0.612	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		Missense_Mutation
PCNT	5116	broad.mit.edu	37	21	47783804	47783804	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr21:47783804A>C	ENST00000359568.5	+	14	2671	c.2564A>C	c.(2563-2565)cAc>cCc	p.H855P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	855					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.H855P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCTGCGCTCCACGTGAAGGAA	0.657																																																1	Substitution - Missense(1)	ovary(1)	21											56.0	65.0	62.0					21																	47783804		2198	4288	6486	46608232	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2564A>C	21.37:g.47783804A>C	ENSP00000352572:p.His855Pro		46608232	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	SNP	6	Broad	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818203	0.32145	.	.	ENSG00000160299	ENST00000359568	T	0.22945	1.93	4.55	-5.35	0.02697	.	.	.	.	.	T	0.09818	0.0241	N	0.22421	0.69	0.09310	N	1	B;P	0.40970	0.0;0.734	B;B	0.34536	0.001;0.185	T	0.18903	-1.0322	9	0.24483	T	0.36	.	1.5336	0.02541	0.4278:0.1159:0.2932:0.1631	.	737;855	O95613-2;O95613	.;PCNT_HUMAN	P	855	ENSP00000352572:H855P	ENSP00000352572:H855P	H	+	2	0	PCNT	46608232	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.250000	0.18235	-1.028000	0.03321	-0.589000	0.04120	CAC		0.657	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		Missense_Mutation
CECR1	51816	broad.mit.edu	37	22	17684625	17684625	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr22:17684625T>G	ENST00000399839.1	-	4	851	c.581A>C	c.(580-582)gAg>gCg	p.E194A	CECR1_ENST00000262607.3_Missense_Mutation_p.E194A|CECR1_ENST00000449907.2_Missense_Mutation_p.E152A|CECR1_ENST00000399837.2_Missense_Mutation_p.E194A	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	194					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)	p.E194A(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GTAAATCACCTCCGGGTGCTG	0.517																																																1	Substitution - Missense(1)	ovary(1)	22											116.0	100.0	105.0					22																	17684625		2203	4300	6503	16064625	SO:0001583	missense	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.581A>C	22.37:g.17684625T>G	ENSP00000382733:p.Glu194Ala		16064625	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	CCDS13742.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271095	0.40194	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	3.92	2.88	0.33553	Adenosine/AMP deaminase (1);	0.246160	0.39687	U	0.001296	T	0.76364	0.3977	M	0.67953	2.075	0.27483	N	0.952516	P	0.42941	0.794	B	0.39590	0.304	T	0.64643	-0.6359	10	0.15066	T	0.55	.	7.2856	0.26337	0.0:0.1058:0.0:0.8942	.	194	Q9NZK5	CECR1_HUMAN	A	194;194;152;194	ENSP00000382733:E194A;ENSP00000262607:E194A;ENSP00000406443:E152A;ENSP00000382731:E194A	ENSP00000262607:E194A	E	-	2	0	CECR1	16064625	0.997000	0.39634	0.001000	0.08648	0.147000	0.21601	4.735000	0.62051	0.406000	0.25560	0.528000	0.53228	GAG		0.517	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			Missense_Mutation
SUSD5	26032	broad.mit.edu	37	3	33255452	33255452	+	Silent	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr3:33255452G>A	ENST00000309558.3	-	2	675	c.258C>T	c.(256-258)tgC>tgT	p.C86C		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	86	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.C86C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGCCAGTGGTGCACACCGCAA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	3											78.0	82.0	81.0					3																	33255452		2036	4182	6218	33230456	SO:0001819	synonymous_variant	26032			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.258C>T	3.37:g.33255452G>A			33230456		Silent	SNP	ENST00000309558.3	37	CCDS46787.1	SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	0.363	-0.938208	0.02340	.	.	ENSG00000173705	ENST00000412539	.	.	.	4.68	0.246	0.15516	.	.	.	.	.	T	0.57844	0.2081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52335	-0.8589	4	.	.	.	-17.6209	10.4499	0.44516	0.2249:0.0:0.7751:0.0	.	.	.	.	V	85	.	.	A	-	2	0	SUSD5	33230456	0.987000	0.35691	0.923000	0.36655	0.008000	0.06430	0.377000	0.20552	0.018000	0.15052	-1.043000	0.02367	GCA		0.567	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		Silent
NISCH	11188	broad.mit.edu	37	3	52526018	52526018	+	Silent	SNP	C	C	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr3:52526018C>G	ENST00000479054.1	+	22	4107	c.4035C>G	c.(4033-4035)ctC>ctG	p.L1345L	NISCH_ENST00000345716.4_Silent_p.L1345L			Q9Y2I1	NISCH_HUMAN	nischarin	1345					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.L1345L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCCAGCCCTCAGCATCCTGC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	3											68.0	70.0	69.0					3																	52526018		2203	4300	6503	52501058	SO:0001819	synonymous_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4035C>G	3.37:g.52526018C>G			52501058	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	CCDS33767.1	SNP	29	Broad																																																																																				0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		Silent
BBX	56987	broad.mit.edu	37	3	107510094	107510094	+	Silent	SNP	G	G	T			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr3:107510094G>T	ENST00000325805.8	+	15	2588	c.2301G>T	c.(2299-2301)ggG>ggT	p.G767G	BBX_ENST00000406780.1_Silent_p.G737G|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000416476.2_Missense_Mutation_p.G431V|BBX_ENST00000402543.1_Intron|BBX_ENST00000415149.2_Silent_p.G737G			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	767	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G737G(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TAGGAAGTGGGGATAAATGGT	0.358																																																1	Substitution - coding silent(1)	ovary(1)	3											86.0	82.0	83.0					3																	107510094		2203	4300	6503	108992784	SO:0001819	synonymous_variant	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2301G>T	3.37:g.107510094G>T			108992784	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	CCDS46881.1	SNP	43	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.607781|2.607781	0.46527|0.46527	.|.	.|.	ENSG00000114439|ENSG00000114439	ENST00000416476|ENST00000443253	D|.	0.99239|.	-5.61|.	5.24|5.24	4.33|4.33	0.51752|0.51752	.|.	0.763871|0.763871	0.12641|0.12641	N|N	0.451270|0.451270	T|.	0.66577|.	0.2803|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;P|.	0.57257|.	0.979;0.952|.	P;P|.	0.59487|.	0.858;0.526|.	T|.	0.65569|.	-0.6136|.	9|.	0.87932|0.59425	D|D	0|0.04	-10.2082|-10.2082	10.8961|10.8961	0.47023|0.47023	0.0:0.2049:0.7951:0.0|0.0:0.2049:0.7951:0.0	.|.	48;431|.	Q9NRU5;A2RRM7|.	.;.|.	V|X	431|39	ENSP00000403860:G431V|.	ENSP00000403860:G431V|ENSP00000402372:G39X	G|G	+|+	2|1	0|0	BBX|BBX	108992784|108992784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.649000|2.649000	0.46656|0.46656	2.724000|2.724000	0.93272|0.93272	0.650000|0.650000	0.86243|0.86243	GGG|GGA		0.358	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		Silent
SEC22A	26984	broad.mit.edu	37	3	122943997	122943997	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr3:122943997C>G	ENST00000309934.4	+	3	1290	c.394C>G	c.(394-396)Ctt>Gtt	p.L132V	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Missense_Mutation_p.L132V	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	132					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.L132V(1)		NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TCCCAGGTCTCTTTCAACAAA	0.378																																																1	Substitution - Missense(1)	ovary(1)	3											87.0	92.0	90.0					3																	122943997		2203	4300	6503	124426687	SO:0001583	missense	26984			AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.394C>G	3.37:g.122943997C>G	ENSP00000310521:p.Leu132Val		124426687	B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	CCDS3021.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056619	0.36277	.	.	ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000480631;ENST00000487572;ENST00000309934	T;T;T;T;T	0.22336	2.2;2.2;1.96;2.23;2.2	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.76574	2.34	0.58432	D	0.999998	D	0.63880	0.993	D	0.76071	0.987	T	0.13202	-1.0518	10	0.26408	T	0.33	0.1054	12.4973	0.55935	0.0:0.9126:0.0:0.0873	.	132	Q96IW7	SC22A_HUMAN	V	132	ENSP00000417972:L132V;ENSP00000420343:L132V;ENSP00000420574:L132V;ENSP00000420015:L132V;ENSP00000310521:L132V	ENSP00000310521:L132V	L	+	1	0	SEC22A	124426687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.807000	0.55591	2.639000	0.89480	0.655000	0.94253	CTT		0.378	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		Missense_Mutation
KALRN	8997	broad.mit.edu	37	3	124165611	124165611	+	Splice_Site	SNP	C	C	A			TCGA-13-0905-01	TCGA-13-0905-10			C	A	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr3:124165611C>A	ENST00000240874.3	+	21	3582	c.3425C>A	c.(3424-3426)gCg>gAg	p.A1142E	KALRN_ENST00000360013.3_Splice_Site_p.A1142E|KALRN_ENST00000460856.1_Splice_Site_p.A1133E	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1142					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1142E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTCCCATAGGCGCTTGACTGG	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											102.0	105.0	104.0					3																	124165611		2203	4300	6503	125648301	SO:0001630	splice_region_variant	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3424-1C>A	3.37:g.124165611C>A			125648301	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	SNP	27	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.071891|5.071891	0.93950|0.93950	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.50277|.	0.75;0.75;0.75|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76169|0.76169	0.3950|0.3950	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.976;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.997;0.953;0.999;0.995|.	T|T	0.74253|0.74253	-0.3725|-0.3725	10|5	0.42905|.	T|.	0.14|.	.|.	19.3433|19.3433	0.94352|0.94352	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1133;488;1142;1142|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	E|S	1133;1142;1142|1111	ENSP00000418611:A1133E;ENSP00000240874:A1142E;ENSP00000353109:A1142E|.	ENSP00000240874:A1142E|.	A|R	+|+	2|1	0|0	KALRN|KALRN	125648301|125648301	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.933000|0.933000	0.57130|0.57130	7.623000|7.623000	0.83113|0.83113	2.797000|2.797000	0.96272|0.96272	0.555000|0.555000	0.69702|0.69702	GCG|CGC		0.458	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	Missense_Mutation	Missense_Mutation
CHST2	9435	broad.mit.edu	37	3	142840774	142840774	+	Silent	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr3:142840774G>A	ENST00000309575.3	+	2	2500	c.1116G>A	c.(1114-1116)gcG>gcA	p.A372A		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	372					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.A372A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TGGAGGCCGCGGGCCACAAGC	0.662																																																2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	3											25.0	31.0	29.0					3																	142840774		2202	4296	6498	144323464	SO:0001819	synonymous_variant	9435			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1116G>A	3.37:g.142840774G>A			144323464	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	CCDS3129.1	SNP	39	Broad																																																																																				0.662	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		Silent
PDZD2	23037	broad.mit.edu	37	5	32089619	32089619	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr5:32089619G>A	ENST00000438447.1	+	20	6453	c.6065G>A	c.(6064-6066)tGt>tAt	p.C2022Y	PDZD2_ENST00000282493.3_Missense_Mutation_p.C2022Y			O15018	PDZD2_HUMAN	PDZ domain containing 2	2022					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.C2022Y(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCTCCTAAGTGTAGAGCAGAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	5											135.0	147.0	143.0					5																	32089619		2203	4300	6503	32125376	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6065G>A	5.37:g.32089619G>A	ENSP00000402033:p.Cys2022Tyr		32125376	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812102	0.16537	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07567	3.18;3.18	4.84	1.99	0.26369	.	0.917207	0.09272	N	0.824956	T	0.07954	0.0199	L	0.41236	1.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37865	-0.9687	10	0.38643	T	0.18	.	7.179	0.25761	0.091:0.326:0.583:0.0	.	2022	O15018	PDZD2_HUMAN	Y	2022;1823;2022	ENSP00000402033:C2022Y;ENSP00000282493:C2022Y	ENSP00000282493:C2022Y	C	+	2	0	PDZD2	32125376	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	0.683000	0.25349	0.220000	0.20860	-0.127000	0.14921	TGT		0.622	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			Missense_Mutation
PCDHB16	57717	broad.mit.edu	37	5	140567248	140567248	+	IGR	SNP	C	C	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr5:140567248C>G	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTACCGGGCTGAGCTGAGA	0.428																																																0			5											56.0	59.0	58.0					5																	140567248		2180	4293	6473	140547432	SO:0001628	intergenic_variant	56127			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567248C>G			140547432	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	SNP	28	Broad																																																																																				0.428	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		Missense_Mutation
ZNF300	91975	broad.mit.edu	37	5	150275377	150275377	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr5:150275377G>A	ENST00000274599.5	-	6	1844	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	ZNF300_ENST00000446148.2_Missense_Mutation_p.S491F|ZNF300_ENST00000418587.2_Missense_Mutation_p.S439F|ZNF300_ENST00000394226.2_Missense_Mutation_p.S475F|ZNF300_ENST00000427179.1_3'UTR	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S475F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACTTGCGGGAGAATGTCTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	5											84.0	80.0	81.0					5																	150275377		2203	4300	6503	150255570	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1424C>T	5.37:g.150275377G>A	ENSP00000274599:p.Ser475Phe		150255570	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	CCDS4311.2	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252934	0.39797	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	3.97	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38134	0.1029	L	0.53671	1.685	0.09310	N	0.999999	D	0.56035	0.974	P	0.48166	0.569	T	0.17868	-1.0355	9	0.62326	D	0.03	.	8.0219	0.30415	0.2117:0.0:0.7883:0.0	.	475	Q96RE9	ZN300_HUMAN	F	491;475;439;475	ENSP00000397178:S491F;ENSP00000274599:S475F;ENSP00000392593:S439F;ENSP00000377773:S475F	ENSP00000274599:S475F	S	-	2	0	ZNF300	150255570	0.000000	0.05858	0.963000	0.40424	0.995000	0.86356	-2.421000	0.01031	1.034000	0.39945	0.591000	0.81541	TCC		0.423	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		Missense_Mutation
GABRA6	2559	broad.mit.edu	37	5	161117296	161117296	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr5:161117296G>C	ENST00000274545.5	+	7	1196	c.763G>C	c.(763-765)Gtc>Ctc	p.V255L	GABRA6_ENST00000523217.1_Missense_Mutation_p.V245L|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	255					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V255L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CATTATGACAGTCATTCTTTC	0.393										TCGA Ovarian(5;0.080)																																						1	Substitution - Missense(1)	ovary(1)	5											178.0	162.0	167.0					5																	161117296		2203	4300	6503	161049874	SO:0001583	missense	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.763G>C	5.37:g.161117296G>C	ENSP00000274545:p.Val255Leu		161049874	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	SNP	36	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.910775|4.910775	0.92178|0.92178	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000520000|ENST00000274545;ENST00000523217;ENST00000523691	.|D;D;D	.|0.87809	.|-2.3;-2.3;-2.3	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Neurotransmitter-gated ion-channel transmembrane domain (2);	.|0.129238	.|0.52532	.|D	.|0.000075	D|D	0.95118|0.95118	0.8418|0.8418	M|M	0.91510|0.91510	3.215|3.215	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.95936|0.95936	0.8942|0.8942	5|10	.|0.87932	.|D	.|0	.|.	18.9873|18.9873	0.92777|0.92777	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|255	.|Q16445	.|GBRA6_HUMAN	H|L	194|255;245;175	.|ENSP00000274545:V255L;ENSP00000430527:V245L;ENSP00000427989:V175L	.|ENSP00000274545:V255L	Q|V	+|+	3|1	2|0	GABRA6|GABRA6	161049874|161049874	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.995000|0.995000	0.86356|0.86356	9.751000|9.751000	0.98889|0.98889	2.491000|2.491000	0.84063|0.84063	0.655000|0.655000	0.94253|0.94253	CAG|GTC		0.393	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			Missense_Mutation
GRM6	2916	broad.mit.edu	37	5	178413538	178413538	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr5:178413538G>A	ENST00000517717.1	-	9	1755	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S	GRM6_ENST00000231188.5_Missense_Mutation_p.P573S|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	573					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.P573S(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACAGGTGTGGGGCGGCAGCCC	0.706																																																1	Substitution - Missense(1)	ovary(1)	5											19.0	20.0	20.0					5																	178413538		2197	4287	6484	178346144	SO:0001583	missense	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1717C>T	5.37:g.178413538G>A	ENSP00000430767:p.Pro573Ser		178346144		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528471	0.44969	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90004	-2.6;-2.6	4.97	3.14	0.36123	.	.	.	.	.	D	0.92388	0.7584	M	0.76170	2.325	0.45676	D	0.99859	D;B	0.59767	0.986;0.039	P;B	0.60236	0.871;0.04	D	0.91356	0.5108	9	0.46703	T	0.11	.	13.2946	0.60290	0.0:0.4668:0.5332:0.0	.	729;573	E7EX65;O15303	.;GRM6_HUMAN	S	729;573;573	ENSP00000231188:P573S;ENSP00000430767:P573S	ENSP00000231188:P573S	P	-	1	0	GRM6	178346144	1.000000	0.71417	0.912000	0.35992	0.925000	0.55904	3.803000	0.55560	0.574000	0.29417	0.462000	0.41574	CCC		0.706	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			Missense_Mutation
HIST1H2BH	8345	broad.mit.edu	37	6	26252061	26252061	+	Silent	SNP	G	G	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr6:26252061G>C	ENST00000356350.2	+	1	183	c.183G>C	c.(181-183)ggG>ggC	p.G61G	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	61					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G61G(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						AAGCCATGGGGATCATGAATT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	6											138.0	131.0	133.0					6																	26252061		2203	4300	6503	26360040	SO:0001819	synonymous_variant	8345			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.183G>C	6.37:g.26252061G>C			26360040	B2R541|Q4VB74	Silent	SNP	ENST00000356350.2	37	CCDS4601.1	SNP	41	Broad																																																																																				0.552	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		Silent
C6orf47	57827	broad.mit.edu	37	6	31627261	31627261	+	Nonsense_Mutation	SNP	A	A	T			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr6:31627261A>T	ENST00000375911.1	-	1	1288	c.464T>A	c.(463-465)tTg>tAg	p.L155*	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	155						cytoplasm (GO:0005737)		p.L155*(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CAGCCAGCCCAACAGCTTCTC	0.642																																																1	Substitution - Nonsense(1)	ovary(1)	6											62.0	73.0	69.0					6																	31627261		1508	2708	4216	31735240	SO:0001587	stop_gained	57827			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.464T>A	6.37:g.31627261A>T	ENSP00000365076:p.Leu155*		31735240	B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Nonsense_Mutation	SNP	ENST00000375911.1	37	CCDS34399.1	SNP	5	Broad	.	.	.	.	.	.	.	.	.	.	A	44	11.120735	0.99518	.	.	ENSG00000204439	ENST00000375911;ENST00000538106	.	.	.	5.79	5.79	0.91817	.	0.113691	0.35179	N	0.003389	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4709	12.5142	0.56024	1.0:0.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000365076:L155X	L	-	2	0	C6orf47	31735240	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.848000	0.48278	2.208000	0.71279	0.533000	0.62120	TTG		0.642	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		Nonsense_Mutation
TULP1	7287	broad.mit.edu	37	6	35471419	35471419	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr6:35471419C>G	ENST00000229771.6	-	13	1319	c.1240G>C	c.(1240-1242)Ggc>Cgc	p.G414R	TULP1_ENST00000322263.4_Missense_Mutation_p.G361R	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	414					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G414R(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CCACGGAAGCCCAGCACGTTG	0.632																																					GBM(55;1027 1091 11115 23439)											1	Substitution - Missense(1)	ovary(1)	6											24.0	25.0	25.0					6																	35471419		2200	4299	6499	35579397	SO:0001583	missense	7287			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1240G>C	6.37:g.35471419C>G	ENSP00000229771:p.Gly414Arg		35579397	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980325	0.92982	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.98937	-5.25;-5.25	5.16	5.16	0.70880	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.943	D	0.99755	1.1019	10	0.87932	D	0	-29.9949	18.6594	0.91467	0.0:1.0:0.0:0.0	.	361;414	O00294-2;O00294	.;TULP1_HUMAN	R	414;361	ENSP00000229771:G414R;ENSP00000319414:G361R	ENSP00000229771:G414R	G	-	1	0	TULP1	35579397	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.441000	0.80485	2.398000	0.81561	0.491000	0.48974	GGC		0.632	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			Missense_Mutation
MEP1A	4224	broad.mit.edu	37	6	46761419	46761419	+	Silent	SNP	T	T	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr6:46761419T>C	ENST00000230588.4	+	3	120	c.111T>C	c.(109-111)ttT>ttC	p.F37F		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	37					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F37F(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATGCAGATTTTGGTGAACAGA	0.308																																																1	Substitution - coding silent(1)	ovary(1)	6											47.0	50.0	49.0					6																	46761419		2203	4297	6500	46869378	SO:0001819	synonymous_variant	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.111T>C	6.37:g.46761419T>C			46869378	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	CCDS4918.1	SNP	63	Broad																																																																																				0.308	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		Silent
FAXC	84553	broad.mit.edu	37	6	99797093	99797093	+	Silent	SNP	C	C	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr6:99797093C>G	ENST00000389677.5	-	1	438	c.156G>C	c.(154-156)ggG>ggC	p.G52G		NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	52						integral component of membrane (GO:0016021)		p.G52G(1)									CTGCCATGATCCCACCGTAAT	0.592																																																1	Substitution - coding silent(1)	ovary(1)	6											65.0	65.0	65.0					6																	99797093		2203	4300	6503	99903814	SO:0001819	synonymous_variant	84553			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.156G>C	6.37:g.99797093C>G			99903814	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Silent	SNP	ENST00000389677.5	37	CCDS34500.1	SNP	30	Broad																																																																																				0.592	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		Silent
TRAF3IP2	10758	broad.mit.edu	37	6	111912676	111912676	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr6:111912676T>G	ENST00000340026.6	-	3	1235	c.641A>C	c.(640-642)gAt>gCt	p.D214A	TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.D205A|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.D205A|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	214	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.D214A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GCCCAGGACATCCTGGGGCTG	0.637																																																1	Substitution - Missense(1)	ovary(1)	6											70.0	73.0	72.0					6																	111912676		2203	4300	6503	112019369	SO:0001583	missense	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.641A>C	6.37:g.111912676T>G	ENSP00000345984:p.Asp214Ala		112019369	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37		SNP	50	Broad	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272483	0.80580	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.64803	-0.08;-0.07;-0.12	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.76796	-0.2827	10	0.87932	D	0	-18.5829	14.8032	0.69932	0.0:0.0:0.0:1.0	.	214;205;205	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	A	214;205;214;205	ENSP00000357750:D205A;ENSP00000345984:D214A;ENSP00000352889:D205A	ENSP00000345984:D214A	D	-	2	0	TRAF3IP2	112019369	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.172000	0.65003	2.233000	0.73108	0.454000	0.30748	GAT		0.637	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			Missense_Mutation
ENPP3	5169	broad.mit.edu	37	6	132047338	132047338	+	Silent	SNP	T	T	C			TCGA-13-0905-01	TCGA-13-0905-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr6:132047338T>C	ENST00000414305.1	+	21	2279	c.1951T>C	c.(1951-1953)Ttg>Ctg	p.L651L	ENPP3_ENST00000358229.5_Silent_p.L651L|ENPP3_ENST00000357639.3_Silent_p.L651L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	651	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.L651L(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AGTCCCCCAGTTGGTAAGTTC	0.418																																																1	Substitution - coding silent(1)	ovary(1)	6											148.0	140.0	143.0					6																	132047338		2203	4300	6503	132089031	SO:0001819	synonymous_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1951T>C	6.37:g.132047338T>C			132089031	Q5JTL3	Silent	SNP	ENST00000414305.1	37	CCDS5148.1	SNP	60	Broad																																																																																				0.418	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			Silent
SHPRH	257218	broad.mit.edu	37	6	146256203	146256204	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr6:146256203_146256204CC>AT	ENST00000367505.2	-	13	3093_3094	c.2829_2830GG>AT	c.(2827-2832)caGGat>caATat	p.D944Y	SHPRH_ENST00000367503.3_Missense_Mutation_p.D944Y|SHPRH_ENST00000275233.7_Missense_Mutation_p.D944Y|SHPRH_ENST00000438092.2_Missense_Mutation_p.D944Y			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	944					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D944Y(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACCACCACATCCTGGCAGCACA	0.49																																																1	Substitution - Missense(1)	ovary(1)	6																																								146297897	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2829_2830delinsAT	6.37:g.146256203_146256204delinsAT	ENSP00000356475:p.Asp944Tyr		146297896	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	DNP	ENST00000367505.2	37	CCDS43513.2	DNP	30	Broad																																																																																				0.490	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		Missense_Mutation
PDE10A	10846	broad.mit.edu	37	6	165843787	165843787	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0905-01	TCGA-13-0905-10			A	T	A	A	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr6:165843787A>T	ENST00000366882.1	-	10	915	c.761T>A	c.(760-762)cTc>cAc	p.L254H	PDE10A_ENST00000539869.2_Missense_Mutation_p.L264H|PDE10A_ENST00000354448.4_Missense_Mutation_p.L254H			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	254					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.L254H(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TGATACGTCGAGTAGGAAGTC	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)											1	Substitution - Missense(1)	ovary(1)	6											158.0	150.0	153.0					6																	165843787		2203	4300	6503	165763777	SO:0001583	missense	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.761T>A	6.37:g.165843787A>T	ENSP00000355847:p.Leu254His		165763777	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		SNP	11	Broad	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988006	0.74589	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.72282	-0.64;-0.64	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80146	-0.1504	10	0.87932	D	0	.	16.2826	0.82703	1.0:0.0:0.0:0.0	.	264;254	Q9ULW9;Q9Y233	.;PDE10_HUMAN	H	254;282;264;254;253	ENSP00000355847:L254H;ENSP00000346435:L254H	ENSP00000341187:L264H	L	-	2	0	PDE10A	165763777	1.000000	0.71417	0.948000	0.38648	0.555000	0.35460	8.879000	0.92398	2.307000	0.77673	0.528000	0.53228	CTC		0.353	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			Missense_Mutation
DAGLB	221955	broad.mit.edu	37	7	6456311	6456311	+	Silent	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr7:6456311G>A	ENST00000297056.6	-	11	1543	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A	DAGLB_ENST00000428902.2_Silent_p.A331A|DAGLB_ENST00000421761.2_Silent_p.A202A|DAGLB_ENST00000436575.1_Silent_p.A417A|DAGLB_ENST00000425398.2_Silent_p.A329A	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	458					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A458A(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GCGGGTAGGCGGCTCTGAGCA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	7											40.0	47.0	45.0					7																	6456311		2203	4300	6503	6422836	SO:0001819	synonymous_variant	221955			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1374C>T	7.37:g.6456311G>A			6422836	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	ENST00000297056.6	37	CCDS5350.1	SNP	39	Broad																																																																																				0.627	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		Silent
VSTM2A	222008	broad.mit.edu	37	7	54617631	54617631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr7:54617631C>A	ENST00000407838.3	+	4	808	c.402C>A	c.(400-402)taC>taA	p.Y134*	VSTM2A_ENST00000402026.2_Nonsense_Mutation_p.Y133*|VSTM2A_ENST00000302287.3_Nonsense_Mutation_p.Y134*|VSTM2A_ENST00000402613.3_Nonsense_Mutation_p.Y134*|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Nonsense_Mutation_p.Y134*	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	134	Ig-like V-type.					extracellular region (GO:0005576)		p.Y133*(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATGCCAACTACGGGGAGCTTC	0.522																																																1	Substitution - Nonsense(1)	ovary(1)	7											59.0	60.0	59.0					7																	54617631		2203	4300	6503	54585125	SO:0001587	stop_gained	222008			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.402C>A	7.37:g.54617631C>A	ENSP00000384967:p.Tyr134*		54585125	A4D2E9|B5MC94	Nonsense_Mutation	SNP	ENST00000407838.3	37	CCDS5512.2	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	37	6.151705	0.97329	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	.	.	.	5.06	0.422	0.16457	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-25.7096	7.0105	0.24859	0.0:0.4295:0.0:0.5705	.	.	.	.	X	134;134;134;133;134	.	ENSP00000303108:Y134X	Y	+	3	2	VSTM2A	54585125	0.492000	0.26027	1.000000	0.80357	0.998000	0.95712	-0.278000	0.08490	0.219000	0.20840	0.655000	0.94253	TAC		0.522	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		Nonsense_Mutation
CSMD1	64478	broad.mit.edu	37	8	3076922	3076922	+	Silent	SNP	T	T	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr8:3076922T>C	ENST00000520002.1	-	30	5085	c.4530A>G	c.(4528-4530)gaA>gaG	p.E1510E	CSMD1_ENST00000542608.1_Silent_p.E1509E|CSMD1_ENST00000400186.3_Silent_p.E1510E|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Silent_p.E1510E|CSMD1_ENST00000602723.1_Silent_p.E1510E|CSMD1_ENST00000539096.1_Silent_p.E1509E|CSMD1_ENST00000537824.1_Silent_p.E1509E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1510	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.E1238E(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AATCTTCCCCTTCATAGATGT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	8											40.0	41.0	41.0					8																	3076922		1830	4083	5913	3064329	SO:0001819	synonymous_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4530A>G	8.37:g.3076922T>C			3064329	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	5.949	0.359102	0.11239	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.48	-4.74	0.03249	.	.	.	.	.	T	0.61110	0.2321	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60229	-0.7304	4	.	.	.	.	12.6193	0.56594	0.0:0.4273:0.0:0.5727	.	.	.	.	G	990	.	.	R	-	1	2	CSMD1	3064329	0.994000	0.37717	0.268000	0.24571	0.678000	0.39670	0.258000	0.18387	-1.078000	0.03117	-0.451000	0.05528	AGG		0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		Silent
UBR5	51366	broad.mit.edu	37	8	103277451	103277451	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0905-01	TCGA-13-0905-10			T	A	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr8:103277451T>A	ENST00000520539.1	-	53	8084	c.7478A>T	c.(7477-7479)gAt>gTt	p.D2493V	UBR5_ENST00000521922.1_Missense_Mutation_p.D2486V|UBR5_ENST00000518205.1_Missense_Mutation_p.D221V|UBR5_ENST00000220959.4_Missense_Mutation_p.D2492V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2493	Asp/Glu-rich (acidic).|HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.D2493V(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATCTGTATCATCTAAATCCAT	0.428																																					Ovarian(131;96 1741 5634 7352 27489)											1	Substitution - Missense(1)	ovary(1)	8											121.0	117.0	119.0					8																	103277451		2203	4300	6503	103346627	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7478A>T	8.37:g.103277451T>A	ENSP00000429084:p.Asp2493Val		103346627	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	SNP	50	Broad	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717353	0.48622	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.55760	0.9;0.9;0.5;0.9	5.46	5.46	0.80206	HECT (2);	0.059098	0.64402	D	0.000004	T	0.38772	0.1053	N	0.22421	0.69	0.58432	D	0.999999	B;B	0.28233	0.078;0.204	B;B	0.26969	0.038;0.075	T	0.32508	-0.9904	10	0.52906	T	0.07	.	11.5307	0.50607	0.0:0.0:0.1496:0.8504	.	2486;2493	E7EMW7;O95071	.;UBR5_HUMAN	V	2493;2492;221;2486	ENSP00000429084:D2493V;ENSP00000220959:D2492V;ENSP00000428693:D221V;ENSP00000427819:D2486V	ENSP00000220959:D2492V	D	-	2	0	UBR5	103346627	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.873000	0.69644	2.064000	0.61679	0.533000	0.62120	GAT		0.428	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		Missense_Mutation
EFR3A	23167	broad.mit.edu	37	8	133015518	133015518	+	Silent	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr8:133015518G>A	ENST00000254624.5	+	22	2571	c.2346G>A	c.(2344-2346)ttG>ttA	p.L782L	EFR3A_ENST00000519656.1_Silent_p.L746L|EFR3A_ENST00000334503.4_Silent_p.L782L|EFR3A_ENST00000521940.1_3'UTR	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	782						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.L782L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CCCAAATATTGGAACTCACCA	0.318																																																1	Substitution - coding silent(1)	ovary(1)	8											95.0	88.0	90.0					8																	133015518		2203	4300	6503	133084700	SO:0001819	synonymous_variant	23167			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.2346G>A	8.37:g.133015518G>A			133084700	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	CCDS34942.2	SNP	47	Broad																																																																																				0.318	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		Silent
KCNQ3	3786	broad.mit.edu	37	8	133144488	133144488	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr8:133144488G>C	ENST00000388996.4	-	14	2243	c.1823C>G	c.(1822-1824)cCa>cGa	p.P608R	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P596R|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P488R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	608					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P608R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGATGTGGATGGTCTGGCTAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	8											148.0	139.0	142.0					8																	133144488		2203	4300	6503	133213670	SO:0001583	missense	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1823C>G	8.37:g.133144488G>C	ENSP00000373648:p.Pro608Arg		133213670	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615591	0.46631	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99080	-5.31;-5.3;-5.4	5.77	5.77	0.91146	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.182108	0.47852	D	0.000212	D	0.96543	0.8872	N	0.24115	0.695	0.28167	N	0.928734	B;B	0.19073	0.033;0.033	B;B	0.26094	0.035;0.066	D	0.90761	0.4665	10	0.33141	T	0.24	-0.2267	12.6481	0.56746	0.0752:0.0:0.9248:0.0	.	596;608	E7ET42;O43525	.;KCNQ3_HUMAN	R	608;488;596;585;487	ENSP00000373648:P608R;ENSP00000429799:P488R;ENSP00000428790:P596R	ENSP00000373648:P608R	P	-	2	0	KCNQ3	133213670	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.445000	0.66594	2.885000	0.99019	0.655000	0.94253	CCA		0.398	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		Missense_Mutation
AGTPBP1	23287	broad.mit.edu	37	9	88247912	88247912	+	Silent	SNP	A	A	T			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr9:88247912A>T	ENST00000357081.3	-	14	1824	c.1680T>A	c.(1678-1680)ctT>ctA	p.L560L	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.L520L|AGTPBP1_ENST00000432218.1_Silent_p.L398L|AGTPBP1_ENST00000376109.3_Silent_p.L572L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	560					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.L520L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CAGTAAGAGGAAGACTGCAGT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	9											123.0	115.0	118.0					9																	88247912		2203	4300	6503	87437732	SO:0001819	synonymous_variant	23287			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1680T>A	9.37:g.88247912A>T			87437732	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37		SNP	9	Broad																																																																																				0.433	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		Silent
MRRF	92399	broad.mit.edu	37	9	125075605	125075605	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chr9:125075605C>G	ENST00000344641.3	+	6	962	c.651C>G	c.(649-651)aaC>aaG	p.N217K	MRRF_ENST00000297908.3_Missense_Mutation_p.N165K|MRRF_ENST00000394315.3_Intron|MRRF_ENST00000373723.5_Intron|MRRF_ENST00000373729.1_Missense_Mutation_p.N173K	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	217					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)		p.N217K(1)		breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						ACTCAATGAACAAGCTGAAGA	0.448																																																1	Substitution - Missense(1)	ovary(1)	9											147.0	123.0	131.0					9																	125075605		2203	4300	6503	124115426	SO:0001583	missense	92399			AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.651C>G	9.37:g.125075605C>G	ENSP00000343867:p.Asn217Lys		124115426	A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Missense_Mutation	SNP	ENST00000344641.3	37	CCDS6840.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	1.028	-0.682611	0.03353	.	.	ENSG00000148187	ENST00000297908;ENST00000344641;ENST00000373729	T;T;T	0.38722	1.12;1.12;1.12	5.14	-1.11	0.09840	Ribosome recycling factor domain (2);	0.258863	0.43747	D	0.000534	T	0.17959	0.0431	N	0.12887	0.27	0.80722	D	1	B;P	0.41232	0.041;0.743	B;B	0.34242	0.013;0.178	T	0.03483	-1.1032	10	0.87932	D	0	-21.7003	6.4162	0.21717	0.0:0.464:0.1612:0.3748	.	165;217	Q96E11-8;Q96E11	.;RRFM_HUMAN	K	165;217;173	ENSP00000297908:N165K;ENSP00000343867:N217K;ENSP00000362834:N173K	ENSP00000297908:N165K	N	+	3	2	MRRF	124115426	0.578000	0.26717	0.996000	0.52242	0.653000	0.38743	-0.333000	0.07894	-0.218000	0.10018	-0.378000	0.06908	AAC		0.448	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777		Missense_Mutation
FAM47B	170062	broad.mit.edu	37	X	34961820	34961820	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chrX:34961820G>A	ENST00000329357.5	+	1	908	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	291	Pro-rich.							p.R291H(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCGAGACTCGCGTATCTCAT	0.632																																																1	Substitution - Missense(1)	ovary(1)	X											56.0	54.0	55.0					X																	34961820		2202	4300	6502	34871741	SO:0001583	missense	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.872G>A	X.37:g.34961820G>A	ENSP00000328307:p.Arg291His		34871741	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	5.124	0.208579	0.09757	.	.	ENSG00000189132	ENST00000329357	T	0.13778	2.56	0.235	-0.47	0.12131	.	.	.	.	.	T	0.07773	0.0195	L	0.29908	0.895	0.09310	N	1	B	0.31640	0.333	B	0.23574	0.047	T	0.21314	-1.0249	9	0.59425	D	0.04	.	2.7385	0.05247	0.4748:0.2605:0.2647:0.0	.	291	Q8NA70	FA47B_HUMAN	H	291	ENSP00000328307:R291H	ENSP00000328307:R291H	R	+	2	0	FAM47B	34871741	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.197000	0.03038	-2.196000	0.00751	-2.201000	0.00304	CGC		0.632	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		Missense_Mutation
LAS1L	81887	broad.mit.edu	37	X	64738127	64738127	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chrX:64738127T>C	ENST00000374811.3	-	12	1707	c.1667A>G	c.(1666-1668)gAg>gGg	p.E556G	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.E539G|LAS1L_ENST00000374804.5_Missense_Mutation_p.E497G	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	556					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E556G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GCCCTGCTCCTCCTGTTGCTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	X											109.0	98.0	102.0					X																	64738127		2203	4300	6503	64654852	SO:0001583	missense	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1667A>G	X.37:g.64738127T>C	ENSP00000363944:p.Glu556Gly		64654852	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	CCDS14381.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	T	7.557	0.663967	0.14710	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.59	-0.0409	0.13870	.	0.240470	0.28230	N	0.016117	T	0.29620	0.0739	L	0.51422	1.61	0.09310	N	0.999999	B;B;B;B	0.11235	0.004;0.002;0.001;0.004	B;B;B;B	0.09377	0.003;0.004;0.001;0.004	T	0.18209	-1.0344	9	0.52906	T	0.07	.	3.5513	0.07847	0.1863:0.2158:0.0:0.5979	.	497;539;556;69	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	G	539;556;497	.	ENSP00000363937:E497G	E	-	2	0	LAS1L	64654852	0.001000	0.12720	0.025000	0.17156	0.042000	0.13812	-0.056000	0.11787	0.052000	0.16007	0.441000	0.28932	GAG		0.527	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		Missense_Mutation
L1CAM	3897	broad.mit.edu	37	X	153131183	153131183	+	Silent	SNP	G	G	C			TCGA-13-0905-01	TCGA-13-0905-10			G	C	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0905-01	TCGA-13-0905-10	g.chrX:153131183G>C	ENST00000370060.1	-	20	2712	c.2523C>G	c.(2521-2523)gtC>gtG	p.V841V	L1CAM_ENST00000370057.3_Silent_p.V841V|L1CAM_ENST00000361981.3_Silent_p.V836V|L1CAM_ENST00000361699.4_Silent_p.V841V|L1CAM_ENST00000538883.1_Silent_p.V843V|L1CAM_ENST00000370055.1_Silent_p.V836V|L1CAM_ENST00000543994.1_Silent_p.V843V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	841	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.V841V(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGCCCTTGACCTGGGCCA	0.602																																																1	Substitution - coding silent(1)	ovary(1)	X											91.0	95.0	94.0					X																	153131183		2203	4300	6503	152784377	SO:0001819	synonymous_variant	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2523C>G	X.37:g.153131183G>C			152784377	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	CCDS14733.1	SNP	45	Broad																																																																																				0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		Silent
MMP19	4327	broad.mit.edu	37	12	56234522	56234534	+	Frame_Shift_Del	DEL	CCAGCCTGCACCT	CCAGCCTGCACCT	-			TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-13-0905-01	TCGA-13-0905-10	g.chr12:56234522_56234534delCCAGCCTGCACCT	ENST00000322569.4	-	4	528_540	c.437_449delAGGTGCAGGCTGG	c.(436-450)gaggtgcaggctggtfs	p.EVQAG146fs	MMP19_ENST00000409200.3_Frame_Shift_Del_p.EVQAG146fs|MMP19_ENST00000548629.1_Frame_Shift_Del_p.EVQAG123fs|MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000547487.1_5'Flank	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	146					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E146fs*55(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GTCAGCCGCACCAGCCTGCACCTCTTGGAAGGT	0.592																																																1	Deletion - Frameshift(1)	ovary(1)	12																																								54520801	SO:0001589	frameshift_variant	4327			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.437_449delAGGTGCAGGCTGG	12.37:g.56234522_56234534delCCAGCCTGCACCT	ENSP00000313437:p.Glu146fs		54520789	B4E030|O15278|O95606|Q99580	Frame_Shift_Del	DEL	ENST00000322569.4	37	CCDS8895.1	DEL	18	Broad																																																																																				0.592	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		Frame_Shift_Del
SUPT16H	11198	broad.mit.edu	37	14	21831173	21831197	+	Splice_Site	DEL	TGCTCAGTGAAAACTCTTACTTCTG	TGCTCAGTGAAAACTCTTACTTCTG	-	rs368671709		TCGA-13-0905-01	TCGA-13-0905-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-13-0905-01	TCGA-13-0905-10	g.chr14:21831173_21831197delTGCTCAGTGAAAACTCTTACTTCTG	ENST00000216297.2	-	13	1845_1850	c.1507_1512delCAGAAGTAAGAGTTTTCACTGAGCA	c.(1507-1512)cagaagdel	p.QK503fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	503					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATGATCTCACTGCTCAGTGAAAACTCTTACTTCTGAATCTGCTGT	0.436																																																2	Unknown(2)	ovary(1)|large_intestine(1)	14																																								20901037	SO:0001630	splice_region_variant	11198			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1511+1CAGAAGTAAGAGTTTTCACTGAGCA>-	14.37:g.21831173_21831197delTGCTCAGTGAAAACTCTTACTTCTG			20901013	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Splice_Site_Del	DEL	ENST00000216297.2	37	CCDS9569.1	DEL	55	Broad																																																																																				0.436	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		Frame_Shift_Del	Splice_Site_Del
